eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| paraganglioma | ||||
| Disease ID | 361 |
|---|---|
| Disease | paraganglioma |
| Definition | A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992) |
| Synonym | [m] gangliocytic paraganglioma [m]gangliocytic paraganglioma [m]paraganglioma nos [m]paraganglioma nos (morphologic abnormality) gangliocytic paraganglioma gangliocytic paraganglioma (disorder) gangliocytic paraganglioma (morphologic abnormality) gangliocytic paragangliomas neoplasm of paraganglion neoplasm of paraganglion (disorder) neoplasm of the paraganglion paraganglioma (disorder) paraganglioma (morphologic abnormality) paraganglioma [disease/finding] paraganglioma, gangliocytic paraganglioma, nos paragangliomas paragangliomas 1 paragangliomas, familial, 1 paragangliomas, gangliocytic paragangliomata paraganglion neoplasm paraganglion tumor paraganglionic neoplasm paraganglionic tumor pgl pgl1 tumor of paraganglion tumor of the paraganglion |
| OMIM | |
| DOID | |
| UMLS | C0030421 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:46) C0020538 | hypertension | 7 C0031511 | pheochromocytoma | 3 C0001339 | acute pancreatitis | 2 C0085113 | neurofibromatosis | 2 C0030305 | pancreatitis | 2 C0017075 | ganglioneuroma | 2 C0025268 | men 2a | 1 C0031269 | peutz-jeghers syndrome | 1 C0238301 | nasopharyngeal carcinoma | 1 C0040137 | thyroid nodules | 1 C0033687 | proteinuria | 1 C0017653 | glomus tumour | 1 C0158699 | renal agenesis | 1 C0879615 | stromal tumor | 1 C0031511 | pheochromocytomas | 1 C0019562 | von hippel lindau syndrome | 1 C0149931 | migraine | 1 C0011649 | mature cystic teratoma | 1 C0220650 | brain metastasis | 1 C1378050 | oncocytoma | 1 C0206693 | medullary carcinoma | 1 C0019562 | von hippel-lindau syndrome | 1 C0002726 | amyloidosis | 1 C0031511 | adrenal pheochromocytoma | 1 C0015464 | facial palsy | 1 C0025268 | multiple endocrine neoplasia type 2 | 1 C1368903 | cystic teratoma | 1 C0040137 | thyroid nodule | 1 C0025268 | multiple endocrine neoplasia type 2a | 1 C0031039 | pericardial effusion | 1 C0014544 | epileptic seizure | 1 C0027819 | neuroblastoma | 1 C0020540 | malignant hypertension | 1 C0010481 | cushing's syndrome | 1 C0021843 | intestinal obstruction | 1 C0206754 | neuroendocrine tumor | 1 C0014544 | epileptic seizures | 1 C0007134 | renal carcinoma | 1 C0025202 | melanoma | 1 C0238198 | gastrointestinal stromal tumor | 1 C0155616 | secondary hypertension | 1 C0041296 | tuberculosis | 1 C0041327 | pulmonary tuberculosis | 1 C0027662 | multiple endocrine neoplasia | 1 C0010051 | coronary artery aneurysm | 1 C0238462 | medullary carcinoma of thyroid | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:61) 5926 | ARID4A | 1.353 | DISEASES 9790 | BMS1 | 2.537 | DISEASES 55216 | C11orf57 | 3.951 | DISEASES 796 | CALCA | 3.753 | DISEASES 885 | CCK | 1.3 | DISEASES 79577 | CDC73 | 1.41 | DISEASES 84701 | COX4I2 | 1.178 | DISEASES 1431 | CS | 1.559 | DISEASES 1621 | DBH | 2.119 | DISEASES 81624 | DIAPH3 | 1.134 | DISEASES 54583 | EGLN1 | 4.347 | DISEASES 2271 | FH | 2.651 | DISEASES 2520 | GAST | 2.204 | DISEASES 2641 | GCG | 1.133 | DISEASES 3091 | HIF1A | 1.085 | DISEASES 3418 | IDH2 | 1.028 | DISEASES 3481 | IGF2 | 1.153 | DISEASES 128239 | IQGAP3 | 1.727 | DISEASES 11202 | KLK8 | 3.859 | DISEASES 3855 | KRT7 | 1.845 | DISEASES 57128 | LYRM4 | 1.834 | DISEASES 4149 | MAX | 3.631 | DISEASES 4191 | MDH2 | 3.232 | DISEASES 4221 | MEN1 | 3.277 | DISEASES 196410 | METTL7B | 1.229 | DISEASES 4237 | MFAP2 | 1.358 | DISEASES 2315 | MLANA | 2.938 | DISEASES 4311 | MME | 1.687 | DISEASES 4519 | MT-CYB | 1.33 | DISEASES 100288485 | MTRNR2L7 | 1.937 | DISEASES 56901 | NDUFA4L2 | 1.934 | DISEASES 4763 | NF1 | 4.762 | DISEASES 9054 | NFS1 | 1.542 | DISEASES 7080 | NKX2-1 | 1.925 | DISEASES 93034 | NT5C1B | 1.184 | DISEASES 7849 | PAX8 | 1.054 | DISEASES 149830 | PRNT | 1.403 | DISEASES 5728 | PTEN | 1.181 | DISEASES 5793 | PTPRG | 1.196 | DISEASES 5923 | RASGRF1 | 1.012 | DISEASES 11186 | RASSF1 | 1.296 | DISEASES 83593 | RASSF5 | 2.018 | DISEASES 5979 | RET | 5.399 | DISEASES 644096 | SDHAF1 | 3.987 | DISEASES 6390 | SDHB | 7.873 | DISEASES 6391 | SDHC | 7.249 | DISEASES 6392 | SDHD | 7.79 | DISEASES 7536 | SF1 | 1.557 | DISEASES 293 | SLC25A6 | 1.017 | DISEASES 23583 | SMUG1 | 3.482 | DISEASES 6752 | SSTR2 | 2.447 | DISEASES 8859 | STK19 | 1.603 | DISEASES 7054 | TH | 2.409 | DISEASES 26521 | TIMM8B | 3.919 | DISEASES 7316 | UBC | 1.112 | DISEASES 7422 | VEGFA | 1.29 | DISEASES 391104 | VHLL | 2.081 | DISEASES 7432 | VIP | 1.422 | DISEASES 81030 | ZBP1 | 2.372 | DISEASES 339487 | ZBTB8OS | 1.445 | DISEASES 195828 | ZNF367 | 2.932 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 361 |
|---|---|
| Disease | paraganglioma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0020538 | hypertension | 5 C0010481 | cushing's syndrome | 2 C0153690 | bone metastases | 1 C0020540 | malignant hypertension | 1 C2103615 | bilateral pheochromocytoma | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894309 | 18826997 | 6392 | SDHD | umls:C0030421 | BeFree | Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. | 0.323606399 | 2008 | SDHD;TIMM8B | 11 | 112086940 | C | A,T |
| rs77724903 | 16388093 | 5979 | RET | umls:C0030421 | BeFree | We present the case of a 38-yr-old man with a sporadic, multifocal pheochromocytoma and paraganglioma who was discovered to carry a Y791F germline mutation in exon 13 of the RET proto-oncogene. | 0.031552066 | 2005 | RET | 10 | 43118460 | A | T |
| rs80338846 | 12218630 | 6392 | SDHD | umls:C0030421 | BeFree | Mutation analysis of the SDHD gene of paraganglioma 1 showed the L95P mutation in six affected family members and two nonaffected carriers protected from becoming affected by genomic imprinting. | 0.323606399 | 2002 | SDHD | 11 | 112088981 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006737 | Extraadrenal pheochromocytoma | MP:0002050 | increased pheochromocytoma incidence | greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension |
| HP:0001686 | Loss of voice | MP:0001155 | arrest of spermatogenesis | block of the process by which spermatogonial stem cells divide and differentiate into spermatozoa |
| HP:0003334 | Elevated circulating catecholamine level | MP:0002968 | increased circulating alkaline phosphatase level | elevated concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0001605 | Vocal cord paralysis | MP:0000756 | forelimb paralysis | loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0002640 | Hypertension associated with pheochromocytoma | MP:0002050 | increased pheochromocytoma incidence | greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension |
| HP:0006748 | Adrenal pheochromocytoma | MP:0002050 | increased pheochromocytoma incidence | greater than the expected number of a benign neoplasm derived from adrenal medullary cells, occurring in a specific population in a given time period; usually associated with hypertension |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0030074 | Chemodectoma | 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:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0003001 | Glomus jugular tumor | 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:0006715 | Glomus tympanicum paraganglioma | 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:0002640 | Hypertension associated with 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:0001649 | Tachycardia | 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:0006737 | Extraadrenal 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:0000740 | Anxiety (with 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:0006748 | Adrenal 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:0001605 | Vocal cord paralysis | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0001962 | Palpitations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001686 | Loss of voice | 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:0002331 | Headache (with 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:0002886 | Vagal paraganglioma | 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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003334 | Elevated circulating catecholamine level | 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 |
| Disease ID | 361 |
|---|---|
| Disease | paraganglioma |
| Case | (Waiting for update.) |