eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multiple endocrine neoplasia type 2 | ||||
| Disease ID | 34 |
|---|---|
| Disease | multiple endocrine neoplasia type 2 |
| Definition | A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease. |
| Synonym | familial chromaffinomatosis mea 2a mea ii mea iia mea type 2a mea type ii mea, type 2 men 002 men 002 a men 2 men 2a men 2a - multiple endocrine neoplasia syndrome type 2a men 2a syndrome men ii men iia men type 2 men type 2a men type ii men, type 2 men-2a syndrome men-2a syndromes men2a mult endo neop type iia multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type ii multiple endocrine adenomatosis, type 2 multiple endocrine adenomatosis, type ii multiple endocrine neopl type 2a multiple endocrine neoplasia [men] type iia multiple endocrine neoplasia syndrome type 2a multiple endocrine neoplasia type 2a multiple endocrine neoplasia type 2a (disorder) multiple endocrine neoplasia type 2a (men 2a) multiple endocrine neoplasia type 2a [disease/finding] multiple endocrine neoplasia type ii multiple endocrine neoplasia, type 2 multiple endocrine neoplasia, type 2 (disorder) multiple endocrine neoplasia, type ii multiple endocrine neoplasia, type iia multiple endocrine neoplasms type 2a neopl multiple endocrine type 2a neoplasia multiple endocrine type 002 a neoplasia, multiple endocrine type 2a neoplasms multiple endocrine type 002 a neoplasms, multiple endocrine type 2a pheochromocytoma and amyloid producing medullary thyroid carcinoma pheochromocytoma and amyloid-producing medullary thyroid carcinoma ptc syndrome sipple syndrome sipple's syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0025268 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:34) C0031511 | pheochromocytoma | 8 C0031511 | pheochromocytomas | 5 C0007115 | thyroid ca | 4 C0238462 | medullary thyroid carcinoma | 3 C0549473 | thyroid carcinoma | 3 C0020502 | hyperparathyroidism | 3 C0031511 | phaeochromocytoma | 2 C0030421 | paraganglioma | 2 C0027858 | neuroma | 2 C0238463 | papillary thyroid cancer | 1 C0030517 | parathyroid disease | 1 C0025268 | men 2a | 1 C0007115 | thyroid cancer | 1 C0011847 | diabetes | 1 C0262587 | parathyroid adenomas | 1 C0238462 | medullary thyroid cancer | 1 C0031511 | adrenal pheochromocytoma | 1 C0024299 | lymphoma | 1 C0151468 | thyroid adenoma | 1 C0021359 | infertility | 1 C0002726 | amyloidosis | 1 C0040128 | thyroid disease | 1 C0020538 | hypertension | 1 C0334634 | mantle cell lymphoma | 1 C0221002 | primary hyperparathyroidism | 1 C0025202 | malignant melanoma | 1 C0035412 | rhabdomyosarcoma | 1 C0010481 | cushing's syndrome | 1 C0011570 | depression | 1 C0677055 | carcinoma of the vulva | 1 C0262587 | parathyroid adenoma | 1 C0206655 | alveolar rhabdomyosarcoma | 1 C0242429 | sore throat | 1 C0018799 | heart disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:53) 55811 | ADCY10 | 1.172 | DISEASES 1176 | AP3S1 | 2.712 | DISEASES 9048 | ARTN | 1.126 | DISEASES 493 | ATP2B4 | 1.482 | DISEASES 8707 | B3GALT2 | 2.965 | DISEASES 11176 | BAZ2A | 2.272 | DISEASES 665 | BNIP3L | 1.067 | DISEASES 796 | CALCA | 6.03 | DISEASES 846 | CASR | 2.735 | DISEASES 79577 | CDC73 | 4.612 | DISEASES 1114 | CHGB | 1.931 | DISEASES 55715 | DOK4 | 2.247 | DISEASES 220164 | DOK6 | 3.077 | DISEASES 1910 | EDNRB | 4.749 | DISEASES 2618 | GART | 2.019 | DISEASES 9247 | GCM2 | 1.265 | DISEASES 2668 | GDNF | 4.573 | DISEASES 2674 | GFRA1 | 3.388 | DISEASES 389400 | GFRAL | 3.644 | DISEASES 51022 | GLRX2 | 1.746 | DISEASES 9402 | GRAP2 | 1.844 | DISEASES 2887 | GRB10 | 1.09 | DISEASES 2885 | GRB2 | 2.001 | DISEASES 220988 | HNRNPA3 | 4.833 | DISEASES 3185 | HNRNPF | 2.743 | DISEASES 80789 | INTS5 | 2.372 | DISEASES 4221 | MEN1 | 5.238 | DISEASES 8031 | NCOA4 | 2.088 | DISEASES 4763 | NF1 | 2.662 | DISEASES 4803 | NGF | 1.51 | DISEASES 4914 | NTRK1 | 1.973 | DISEASES 5727 | PTCH1 | 3.175 | DISEASES 8643 | PTCH2 | 1.182 | DISEASES 5792 | PTPRF | 2.299 | DISEASES 5795 | PTPRJ | 1.233 | DISEASES 5979 | RET | 8.016 | DISEASES 284654 | RSPO1 | 1.11 | DISEASES 6390 | SDHB | 2.73 | DISEASES 6391 | SDHC | 2.419 | DISEASES 6392 | SDHD | 2.794 | DISEASES 6464 | SHC1 | 3.978 | DISEASES 53358 | SHC3 | 1.197 | DISEASES 9121 | SLC16A5 | 2.824 | DISEASES 6714 | SRC | 1.524 | DISEASES 7311 | UBA52 | 1.179 | DISEASES 51377 | UCHL5 | 1.51 | DISEASES 29799 | YPEL1 | 3.159 | DISEASES 7581 | ZNF33A | 3.307 | DISEASES 7582 | ZNF33B | 4.122 | DISEASES 51710 | ZNF44 | 1.433 | DISEASES 115560 | ZNF501 | 1.474 | DISEASES 148266 | ZNF569 | 1.446 | DISEASES 284390 | ZNF763 | 1.474 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 34 |
|---|---|
| Disease | multiple endocrine neoplasia type 2 |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:68) HP:0000157 | Abnormality of the tongue HP:0000843 | Hyperparathyroidism HP:0003639 | Increased urinary epinephrine HP:0001012 | Multiple lipomas HP:0008221 | Adrenal hyperplasia HP:0000492 | Abnormality of the eyelid HP:0000787 | Nephrolithiasis HP:0200008 | Intestinal polyposis HP:0012378 | Fatigue HP:0002653 | Bone pain HP:0001166 | Arachnodactyly HP:0002019 | Constipation HP:0001824 | Weight loss HP:0002027 | Abdominal pain HP:0002251 | Aganglionic megacolon HP:0003005 | Ganglioneuroma HP:0003198 | Myopathy HP:0000767 | Pectus excavatum HP:0012649 | Increased inflammatory response HP:0005214 | Intestinal obstruction HP:0002716 | Lymphadenopathy HP:0003401 | Paresthesia HP:0000098 | Tall stature HP:0004370 | Abnormality of temperature regulation HP:0003307 | Hyperlordosis HP:0002014 | Diarrhea HP:0005692 | Joint hyperflexibility HP:0002615 | Hypotension HP:0000822 | Hypertension HP:0001574 | Abnormality of the integument HP:0002017 | Nausea and vomiting HP:0009830 | Peripheral neuropathy HP:0004372 | Reduced consciousness/confusion HP:0001944 | Dehydration HP:0100735 | Hypertensive crisis HP:0000739 | Anxiety HP:0000175 | Cleft palate HP:0010741 | Edema of the lower limbs HP:0003528 | Elevated calcitonin HP:0002666 | Pheochromocytoma HP:0007400 | Irregular hyperpigmentation HP:0002650 | Scoliosis HP:0011675 | Arrhythmia HP:0001131 | Corneal dystrophy HP:0002808 | Kyphosis HP:0002251 | Hirschsprung megacolon HP:0006443 | Patellar aplasia HP:0002865 | Medullary thyroid carcinoma HP:0003118 | Increased circulating cortisol level HP:0001761 | Pes cavus HP:0000988 | Skin rash HP:0003100 | Slender long bone HP:0003072 | Hypercalcemia HP:0011830 | Abnormality of oral mucosa HP:0100631 | Neoplasm of the adrenal gland HP:0000179 | Thick lower lip vermilion HP:0000958 | Dry skin HP:0001324 | Muscle weakness HP:0001337 | Tremor HP:0000819 | Diabetes mellitus HP:0000716 | Depression HP:0000989 | Pruritus HP:0001252 | Muscular hypotonia HP:0002039 | Anorexia HP:0007565 | Multiple cafe-au-lait spots HP:0100835 | Benign neoplasm of the central nervous system HP:0000980 | Pallor HP:0002897 | Parathyroid adenoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:28) HP:0002666 | Pheochromocytoma | 8 HP:0002664 | Neoplasia | 4 HP:0000843 | Hyperparathyroidism | 3 HP:0002865 | Medullary thyroid carcinoma | 3 HP:0002251 | Hirschsprung megacolon | 3 HP:0002890 | Thyroid carcinoma | 3 HP:0030731 | Carcinoma | 3 HP:0002668 | Paragangliomas | 2 HP:0030430 | Pinched nerve | 2 HP:0002861 | Melanoma | 1 HP:0000820 | Thyroid abnormality | 1 HP:0003419 | Low back pain | 1 HP:0002665 | Lymphoma | 1 HP:0001824 | Weight loss | 1 HP:0008200 | Primary hyperparathyroidism | 1 HP:0002897 | Parathyroid adenoma | 1 HP:0010783 | Erythema | 1 HP:0002859 | Rhabdomyosarcoma | 1 HP:0006748 | Adrenal pheochromocytoma | 1 HP:0012531 | Pain | 1 HP:0000718 | Aggressive behaviour | 1 HP:0006779 | Alveolar rhabdomyosarcoma | 1 HP:0000854 | Thyroid adenoma | 1 HP:0011034 | Amyloid disease | 1 HP:0003418 | Back pain | 1 HP:0000822 | Hypertension | 1 HP:0000789 | Infertility | 1 HP:0000716 | Depression | 1 |
| Disease ID | 34 |
|---|---|
| Disease | multiple endocrine neoplasia type 2 |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:99) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913306 | 10679286 | 5979 | RET | umls:C0025268 | BeFree | Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y806C mutation was not affected by substitution of phenylalanine for tyrosine 905 that abolished the activity of RET with the MEN 2A mutation. | 0.613995491 | 2000 | NA | NA | NA | NA | NA |
| rs146646971 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114598 | G | C,T |
| rs146838520 | 16712668 | 5979 | RET | umls:C0025268 | BeFree | Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal. | 0.613995491 | 2006 | RET | 10 | 43120129 | C | T |
| rs148935214 | 19906784 | 5979 | RET | umls:C0025268 | BeFree | RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic mutations for VHL and MEN 2. | 0.613995491 | 2010 | RET | 10 | 43114546 | C | T |
| rs149513065 | 9502784 | 5979 | RET | umls:C0025268 | BeFree | In contrast, three mutations mapping into the intracytoplasmic domain neither modified the transforming capacity of RET-MEN 2A nor stimulated the catalytic activity of RET in our ligand-independent system (S767R, P1039L, M1064T). | 0.613995491 | 1998 | RET | 10 | 43128115 | T | C |
| rs1799939 | 12702567 | 5979 | RET | umls:C0025268 | BeFree | Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. | 0.613995491 | 2003 | RET | 10 | 43114671 | G | A |
| rs1799939 | 15240649 | 5979 | RET | umls:C0025268 | BeFree | In 46 cases of sporadic MTCs, we also studied the cosegregation of somatic RET gene mutation and G691S polymorphism as well as the linkage of the polymorphism with RET germline mutation in 60 members of eight multiple endocrine neoplasia type 2 families. | 0.613995491 | 2004 | RET | 10 | 43114671 | G | A |
| rs193922700 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114680 | C | T |
| rs267607010 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114497 | C | G |
| rs34677591 | 22584711 | 6392 | SDHD | umls:C0025268 | BeFree | Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome. | 0.005081451 | 2012 | SDHD;TIMM8B | 11 | 112086941 | G | A |
| rs34682185 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43106382 | G | A |
| rs369367198 | 21655256 | 4914 | NTRK1 | umls:C0025268 | BeFree | We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC presented a novel p.C634Y/V292M/R67H/R982C compound mutation, due to the involvement of p.C634Y in the proband with MEN 2A and p.V292M/R67H/R982C in the proband's husband with FMTC. | 0.003257302 | 2011 | NTRK1 | 1 | 156873743 | G | A |
| rs377767397 | 16712668 | 5979 | RET | umls:C0025268 | BeFree | Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal. | 0.613995491 | 2006 | RET | 10 | 43113628 | G | A,C,T |
| rs377767398 | 16712668 | 5979 | RET | umls:C0025268 | BeFree | Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal. | 0.613995491 | 2006 | NA | NA | NA | NA | NA |
| rs377767405 | 17527003 | 5979 | RET | umls:C0025268 | BeFree | A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case. | 0.613995491 | 2007 | RET | 10 | 43114489 | G | A,C,T |
| rs377767406 | 16839264 | 2744 | GLS | umls:C0025268 | BeFree | We report here on a rare extracellular mutation of the RET gene that led to the substitution of a tyrosine for an aspartate in codon 631 (D631Y, GAC to TAC) in two Korean families with MEN 2A. | 0.000271442 | 2006 | RET | 10 | 43114491 | G | A,T |
| rs377767406 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114491 | G | A,T |
| rs377767406 | 16839264 | 5979 | RET | umls:C0025268 | BeFree | We report here on a rare extracellular mutation of the RET gene that led to the substitution of a tyrosine for an aspartate in codon 631 (D631Y, GAC to TAC) in two Korean families with MEN 2A. | 0.613995491 | 2006 | RET | 10 | 43114491 | G | A,T |
| rs377767409 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | NA | NA | NA | NA | NA |
| rs377767419 | 10679286 | 5979 | RET | umls:C0025268 | BeFree | Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y806C mutation was not affected by substitution of phenylalanine for tyrosine 905 that abolished the activity of RET with the MEN 2A mutation. | 0.613995491 | 2000 | RET | 10 | 43119555 | A | G |
| rs377767429 | 10679286 | 5979 | RET | umls:C0025268 | BeFree | Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y806C mutation was not affected by substitution of phenylalanine for tyrosine 905 that abolished the activity of RET with the MEN 2A mutation. | 0.613995491 | 2000 | NA | NA | NA | NA | NA |
| rs377767435 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114491 | GAC | - |
| rs377767436 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114503 | - | ACGAGCTGTGCC |
| rs377767437 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114508 | - | TGCCGCACG |
| rs387906531 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114496 | G | C |
| rs74799832 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43121968 | T | C |
| rs74799832 | 22199277 | 5979 | RET | umls:C0025268 | BeFree | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | 0.613995491 | 2011 | RET | 10 | 43121968 | T | C |
| rs74799832 | 7559902 | 5979 | RET | umls:C0025268 | BeFree | The hereditary multiple endocrine neoplasia syndromes types 2A and B (MEN 2A and B) were recently linked to germline mutations in the RET proto-oncogene, altering one of five cysteine residues in exon 10 or 11 (MEN 2A), or substituting a methionine for a threonine at codon 918 in exon 16 (MEN 2B). | 0.613995491 | 1995 | RET | 10 | 43121968 | T | C |
| rs74799832 | 11389085 | 5979 | RET | umls:C0025268 | BeFree | RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wild-type RET, activates a NF-kappaB-dependent reporter construct upon transient transfection in HeLa cells. | 0.613995491 | 2001 | RET | 10 | 43121968 | T | C |
| rs74799832 | 10679286 | 5979 | RET | umls:C0025268 | BeFree | Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y806C mutation was not affected by substitution of phenylalanine for tyrosine 905 that abolished the activity of RET with the MEN 2A mutation. | 0.613995491 | 2000 | RET | 10 | 43121968 | T | C |
| rs75030001 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43118458 | G | C,T |
| rs75030001 | 9506724 | 5979 | RET | umls:C0025268 | UNIPROT | A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. | 0.613995491 | 1998 | RET | 10 | 43118458 | G | C,T |
| rs75076352 | 9111993 | 5979 | RET | umls:C0025268 | BeFree | A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. | 0.613995491 | 1997 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 12150334 | 5979 | RET | umls:C0025268 | BeFree | We performed genetic screening in 88 members of an extended family with MEN-2A and found 18 members positive for RET mutation (Cys634Gly). | 0.613995491 | 2002 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 25515555 | 5979 | RET | umls:C0025268 | BeFree | RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation. | 0.613995491 | 2015 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 11389085 | 5979 | RET | umls:C0025268 | BeFree | RET harboring the mutations C634R (MEN 2A) or M918T (MEN 2B), in contrast to wild-type RET, activates a NF-kappaB-dependent reporter construct upon transient transfection in HeLa cells. | 0.613995491 | 2001 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 12930027 | 5979 | RET | umls:C0025268 | BeFree | A RET C634R mutation in a Thai female with multiple endocrine neoplasia type 2A. | 0.613995491 | 2003 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 19201392 | 5979 | RET | umls:C0025268 | BeFree | Multiple endocrine neoplasia type 2a and germ line C634G RET mutation diagnosed in an 80-year-old patient. | 0.613995491 | 2009 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 19201392 | 4489 | MT1A | umls:C0025268 | BeFree | The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multiple MTC in a carrier of C634G mutation were unusual and argued for the possible role of genetic modifier(s) in this MEN 2a patient. | 0.002714419 | 2009 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 15472167 | 5979 | RET | umls:C0025268 | BeFree | The construct was transiently expressed in 293T cells in parallel with a wild-type RET and a C634R MEN 2A-associated RET mutant. | 0.613995491 | 2004 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 19201392 | 4914 | NTRK1 | umls:C0025268 | BeFree | The diagnosis of Men2a at the age of 80 years and the absence of lymph node metastasis of the multiple MTC in a carrier of C634G mutation were unusual and argued for the possible role of genetic modifier(s) in this MEN 2a patient. | 0.003257302 | 2009 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 23617071 | 5979 | RET | umls:C0025268 | BeFree | A heterozygous mutation p.Cys634Arg in the RET gene was identified in 5 patients with MEN2A and one asymptomatic family member. | 0.613995491 | 2013 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 15592804 | 5979 | RET | umls:C0025268 | BeFree | Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome. | 0.613995491 | 2005 | RET | 10 | 43114500 | T | A,C,G |
| rs75076352 | 18752792 | 5979 | RET | umls:C0025268 | BeFree | Unusual presentation of multiple endocrine neoplasia type 2A in a patient with the C634R mutation of the RET-protooncogene. | 0.613995491 | 2008 | RET | 10 | 43114500 | T | A,C,G |
| rs75234356 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43120144 | T | G |
| rs75234356 | 20554711 | 5979 | RET | umls:C0025268 | BeFree | The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A. | 0.613995491 | 2010 | RET | 10 | 43120144 | T | G |
| rs75234356 | 24449023 | 5979 | RET | umls:C0025268 | BeFree | We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. | 0.613995491 | 2013 | RET | 10 | 43120144 | T | G |
| rs75873440 | 21834681 | 5979 | RET | umls:C0025268 | BeFree | The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo. | 0.613995491 | 2011 | RET | 10 | 43112173 | G | A,T |
| rs75873440 | 24601688 | 5979 | RET | umls:C0025268 | BeFree | Our group described a p.G533C RET gene mutation in a large family with multiple endocrine neoplasia type 2 syndrome. | 0.613995491 | 2014 | RET | 10 | 43112173 | G | A,T |
| rs75873440 | 18805915 | 5979 | RET | umls:C0025268 | BeFree | Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene. | 0.613995491 | 2008 | RET | 10 | 43112173 | G | A,T |
| rs75873440 | 23461807 | 5979 | RET | umls:C0025268 | BeFree | We report for the first time a family from the United States with a rare mutation involving exon 8 of the RET proto-oncogene, corresponding to a p.Gly533Cys substitution (G533C) leading to the development of MEN2A syndrome in several affected family members. | 0.613995491 | 2014 | RET | 10 | 43112173 | G | A,T |
| rs75996173 | 9497883 | 5979 | RET | umls:C0025268 | BeFree | PCR amplification and sequencing of the RET oncogene from the metastatic parathyroid carcinoma and genomic DNA revealed a heterozygous mutation (Cys634Tyr) in exon 11, as has previously been described to occur in MEN 2A. | 0.613995491 | 1997 | RET | 10 | 43114501 | G | A,C,T |
| rs75996173 | 23723040 | 5979 | RET | umls:C0025268 | BeFree | Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families. | 0.613995491 | 2014 | RET | 10 | 43114501 | G | A,C,T |
| rs75996173 | 25515555 | 5979 | RET | umls:C0025268 | BeFree | RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation. | 0.613995491 | 2015 | RET | 10 | 43114501 | G | A,C,T |
| rs75996173 | 12746565 | 5979 | RET | umls:C0025268 | BeFree | Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation. | 0.613995491 | 2003 | RET | 10 | 43114501 | G | A,C,T |
| rs75996173 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114501 | G | A,C,T |
| rs75996173 | 15592804 | 5979 | RET | umls:C0025268 | BeFree | Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome. | 0.613995491 | 2005 | RET | 10 | 43114501 | G | A,C,T |
| rs75996173 | 24643705 | 5979 | RET | umls:C0025268 | BeFree | The mutation found in the RET proto-oncogene responsible for MEN2A in pediatric patients in the south of Spain is the C635Y. | 0.613995491 | 2014 | RET | 10 | 43114501 | G | A,C,T |
| rs75996173 | 9950371 | 5979 | RET | umls:C0025268 | BeFree | High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain. | 0.613995491 | 1999 | RET | 10 | 43114501 | G | A,C,T |
| rs76262710 | 7849720 | 5979 | RET | umls:C0025268 | UNIPROT | RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. | 0.613995491 | 1994 | RET | 10 | 43113648 | T | A,C,G |
| rs76262710 | 9003111 | 5979 | RET | umls:C0025268 | BeFree | Therefore, we suggest that MEN 2A families should not be subclassified into MEN 2A and FMTC, but rather according to their specific mutation in the RET protein (i.e., for this family MEN 2A RET C618S). | 0.613995491 | 1996 | RET | 10 | 43113648 | T | A,C,G |
| rs76262710 | 8675603 | 5979 | RET | umls:C0025268 | BeFree | C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. | 0.613995491 | 1996 | RET | 10 | 43113648 | T | A,C,G |
| rs76262710 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43113648 | T | A,C,G |
| rs76262710 | 22199277 | 5979 | RET | umls:C0025268 | BeFree | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | 0.613995491 | 2011 | RET | 10 | 43113648 | T | A,C,G |
| rs77316810 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43113654 | T | A,C,G |
| rs77316810 | 22199277 | 5979 | RET | umls:C0025268 | BeFree | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | 0.613995491 | 2011 | RET | 10 | 43113654 | T | A,C,G |
| rs77503355 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43113655 | G | A,C,T |
| rs77503355 | 22199277 | 5979 | RET | umls:C0025268 | BeFree | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | 0.613995491 | 2011 | RET | 10 | 43113655 | G | A,C,T |
| rs77503355 | 7915165 | 5979 | RET | umls:C0025268 | UNIPROT | Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. | 0.613995491 | 1994 | RET | 10 | 43113655 | G | A,C,T |
| rs77558292 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43113621 | T | A,C,G |
| rs77558292 | 22584703 | 5979 | RET | umls:C0025268 | BeFree | In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism. | 0.613995491 | 2012 | RET | 10 | 43113621 | T | A,C,G |
| rs77558292 | NA | 5979 | RET | umls:C0025268 | UNIPROT | NA | 0.613995491 | NA | RET | 10 | 43113621 | T | A,C,G |
| rs77709286 | 18794325 | 5979 | RET | umls:C0025268 | BeFree | Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation. | 0.613995491 | 2008 | RET | 10 | 43114502 | C | G |
| rs77709286 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114502 | C | G |
| rs77711105 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114542 | G | A |
| rs77724903 | 16356097 | 79969 | ATAT1 | umls:C0025268 | BeFree | Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. | 0.000271442 | 2005 | RET | 10 | 43118460 | A | T |
| rs77724903 | 19906784 | 5979 | RET | umls:C0025268 | BeFree | RET p.Tyr791Phe and p.Ser649Leu and VHL p.Pro81Ser are definitely not pathogenic mutations for VHL and MEN 2. | 0.613995491 | 2010 | RET | 10 | 43118460 | A | T |
| rs77724903 | 16356097 | 5741 | PTH | umls:C0025268 | BeFree | Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. | 0.000271442 | 2005 | RET | 10 | 43118460 | A | T |
| rs77724903 | 16356097 | 5979 | RET | umls:C0025268 | BeFree | Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. | 0.613995491 | 2005 | RET | 10 | 43118460 | A | T |
| rs77724903 | 23723040 | 5979 | RET | umls:C0025268 | BeFree | Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families. | 0.613995491 | 2014 | RET | 10 | 43118460 | A | T |
| rs77724903 | 16356097 | 6898 | TAT | umls:C0025268 | BeFree | Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. | 0.000271442 | 2005 | RET | 10 | 43118460 | A | T |
| rs77724903 | 12000816 | 5979 | RET | umls:C0025268 | UNIPROT | The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel-Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispose carriers to pheochromocytomas and glomus tumors. | 0.613995491 | 2002 | RET | 10 | 43118460 | A | T |
| rs77724903 | 16356097 | 138428 | PTRH1 | umls:C0025268 | BeFree | Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. | 0.000271442 | 2005 | RET | 10 | 43118460 | A | T |
| rs77939446 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43113622 | G | A,C,T |
| rs77939446 | 22584703 | 5979 | RET | umls:C0025268 | BeFree | In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism. | 0.613995491 | 2012 | RET | 10 | 43113622 | G | A,C,T |
| rs77939446 | 7633441 | 5979 | RET | umls:C0025268 | UNIPROT | Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. | 0.613995491 | 1995 | RET | 10 | 43113622 | G | A,C,T |
| rs78935588 | 10522989 | 5979 | RET | umls:C0025268 | UNIPROT | A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. | 0.613995491 | 1999 | RET | 10 | 43114519 | C | G |
| rs78935588 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43114519 | C | G |
| rs794727130 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43119724 | GCAGTAT | - |
| rs79658334 | 10679286 | 5979 | RET | umls:C0025268 | BeFree | Like RET with the M918T or A883F MEN 2B mutation, the transforming activity of RET with the V804M/Y806C mutation was not affected by substitution of phenylalanine for tyrosine 905 that abolished the activity of RET with the MEN 2A mutation. | 0.613995491 | 2000 | RET | 10 | 43119548 | G | A,C,T |
| rs79658334 | 17316110 | 5979 | RET | umls:C0025268 | BeFree | RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype. | 0.613995491 | 2007 | RET | 10 | 43119548 | G | A,C,T |
| rs79781594 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43113649 | G | A,C,T |
| rs79781594 | 22199277 | 5979 | RET | umls:C0025268 | BeFree | MEN2A (C618S), MEN2A/familial MTC (FMTC) (C620S), and MEN2B (M918T). | 0.613995491 | 2011 | RET | 10 | 43113649 | G | A,C,T |
| rs79781594 | 9003111 | 5979 | RET | umls:C0025268 | BeFree | Therefore, we suggest that MEN 2A families should not be subclassified into MEN 2A and FMTC, but rather according to their specific mutation in the RET protein (i.e., for this family MEN 2A RET C618S). | 0.613995491 | 1996 | RET | 10 | 43113649 | G | A,C,T |
| rs79781594 | 7849720 | 5979 | RET | umls:C0025268 | UNIPROT | RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. | 0.613995491 | 1994 | RET | 10 | 43113649 | G | A,C,T |
| rs79853121 | 9502784 | 5979 | RET | umls:C0025268 | BeFree | In contrast, three mutations mapping into the intracytoplasmic domain neither modified the transforming capacity of RET-MEN 2A nor stimulated the catalytic activity of RET in our ligand-independent system (S767R, P1039L, M1064T). | 0.613995491 | 1998 | RET | 10 | 43126651 | C | A,T |
| rs80069458 | NA | 5979 | RET | umls:C0025268 | CLINVAR | NA | 0.613995491 | NA | RET | 10 | 43113629 | C | G |
| rs80069458 | 8103403 | 5979 | RET | umls:C0025268 | UNIPROT | Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. | 0.613995491 | 1993 | RET | 10 | 43113629 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0003100 | Slender long bone | MP:0013624 | decreased femur compact bone thickness | reduced width of the superficial layer of compact bone at the midpoint of the femur |
| HP:0003639 | Elevated urinary epinephrine | MP:0000538 | abnormal urinary bladder morphology | any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0008221 | Adrenal hyperplasia | MP:0009092 | endometrium hyperplasia | overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| HP:0004370 | Abnormality of temperature regulation | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0002865 | Medullary thyroid carcinoma | MP:0003496 | increased thyroid adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001574 | Abnormality of the integument | MP:0001155 | arrest of spermatogenesis | block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa |
| HP:0100631 | Neoplasm of the adrenal gland | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0100835 | Benign neoplasm of the central nervous system | MP:0003125 | abnormal septation of the cloaca | absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0002897 | Parathyroid adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0003118 | Increased circulating cortisol level | MP:0011549 | increased urine corticosterone level | an increased amount of corticosterone in the urine compared to the normal state |
| HP:0010741 | Edema of the lower limbs | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0000157 | Abnormality of the tongue | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:66) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004370 | Abnormality of temperature regulation | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001944 | Dehydration | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0003307 | Hyperlordosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000098 | Tall stature | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001574 | Abnormality of the integument | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0003118 | Increased circulating cortisol level | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0010741 | Edema of the lower limbs | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| HP:0003100 | Slender long bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004372 | Reduced consciousness/confusion | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0100735 | Hypertensive crisis | MP:0011414 | erythruria | passage of red colored urine |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006443 | Patellar aplasia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0011830 | Abnormality of oral mucosa | MP:0002169 | no abnormal phenotype detected | normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100631 | Neoplasm of the adrenal gland | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0001012 | Multiple lipomas | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001131 | Corneal dystrophy | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003528 | Elevated calcitonin | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002897 | Parathyroid adenoma | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000843 | Hyperparathyroidism | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001761 | Pes cavus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007400 | Irregular hyperpigmentation | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100835 | Benign neoplasm of the central nervous system | MP:0011865 | abnormal podocyte motility | any anomaly in the ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM); motility refers to the dynamic reorganization of the interdigitating FP structure in vivo , and to the |
| HP:0003639 | Elevated urinary epinephrine | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0002666 | Pheochromocytoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0000157 | Abnormality of the tongue | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000492 | Abnormality of the eyelid | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0200008 | Intestinal polyposis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002865 | Medullary thyroid carcinoma | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003005 | Ganglioneuroma | MP:0013795 | abnormal colon goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0008221 | Adrenal hyperplasia | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 34 |
|---|---|
| Disease | multiple endocrine neoplasia type 2 |
| Case | (Waiting for update.) |