eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial hypocalciuric hypercalcemia | ||||
| Disease ID | 795 |
|---|---|
| Disease | familial hypocalciuric hypercalcemia |
| Definition | Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL. It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day. - Wikipedia Reference: https://en.wikipedia.org/wiki/familial hypocalciuric hypercalcemia |
| Synonym | familial benign hypercalcemia 1 familial benign hypercalcemia type 1 fbh1 fhh1 hhc1 hypercalcemia, familial benign hypercalcemia, familial benign type 1 hypocalciuric hypercalcemia, familial, type 1 hypocalciuric hypercalcemia, familial, type i |
| Orphanet | |
| OMIM | |
| UMLS | C0342637 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:48) 203 | AK1 | 1.781 | DISEASES 393 | ARHGAP4 | 4.046 | DISEASES 220202 | ATOH7 | 1.008 | DISEASES 493 | ATP2B4 | 1.945 | DISEASES 23545 | ATP6V0A2 | 1.509 | DISEASES 551 | AVP | 1.621 | DISEASES 796 | CALCA | 1.802 | DISEASES 833 | CARS | 1.866 | DISEASES 846 | CASR | 7.375 | DISEASES 79577 | CDC73 | 4.483 | DISEASES 11117 | EMILIN1 | 2.919 | DISEASES 115548 | FCHO2 | 4.406 | DISEASES 89848 | FCHSD1 | 4.854 | DISEASES 9873 | FCHSD2 | 3.511 | DISEASES 342184 | FMN1 | 3.404 | DISEASES 23048 | FNBP1 | 4.913 | DISEASES 57720 | GPR107 | 3.696 | DISEASES 2859 | GPR35 | 2.299 | DISEASES 2875 | GPT | 1.675 | DISEASES 9641 | IKBKE | 1.932 | DISEASES 221037 | JMJD1C | 2.415 | DISEASES 3762 | KCNJ5 | 1.232 | DISEASES 55818 | KDM3A | 1.897 | DISEASES 51780 | KDM3B | 2.709 | DISEASES 3909 | LAMA3 | 1.287 | DISEASES 4221 | MEN1 | 3.589 | DISEASES 8972 | MGAM | 1.252 | DISEASES 4536 | MT-ND2 | 1.333 | DISEASES 387129 | NPSR1 | 3.131 | DISEASES 23762 | OSBP2 | 2.035 | DISEASES 5132 | PDC | 1.66 | DISEASES 5580 | PRKCD | 1.892 | DISEASES 5744 | PTHLH | 1.477 | DISEASES 83593 | RASSF5 | 1.951 | DISEASES 5979 | RET | 2.282 | DISEASES 6035 | RNASE1 | 1.957 | DISEASES 8153 | RND2 | 2.91 | DISEASES 55819 | RNF130 | 2.48 | DISEASES 6166 | RPL36AL | 3.127 | DISEASES 6559 | SLC12A3 | 2.269 | DISEASES 8671 | SLC4A4 | 1.104 | DISEASES 9498 | SLC4A8 | 1.431 | DISEASES 114815 | SORCS1 | 2.086 | DISEASES 57522 | SRGAP1 | 4.12 | DISEASES 9901 | SRGAP3 | 3.815 | DISEASES 9322 | TRIP10 | 4.384 | DISEASES 10587 | TXNRD2 | 1.165 | DISEASES 7421 | VDR | 1.59 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 795 |
|---|---|
| Disease | familial hypocalciuric hypercalcemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0004398 | Peptic ulcer HP:0000843 | Hyperparathyroidism HP:0000787 | Nephrolithiasis HP:0003127 | Low urine calcium levels HP:0012378 | Fatigue HP:0001733 | Pancreatitis HP:0012032 | Lipoma HP:0002960 | Autoimmunity HP:0002918 | Hypermagnesemia HP:0000934 | Chondrocalcinosis HP:0002017 | Nausea and vomiting HP:0008732 | Renal hypophosphatemia HP:0012609 | Hypomagnesiuria HP:0002574 | Episodic abdominal pain HP:0002918 | High blood magnesium levels HP:0001733 | Pancreatic inflammation HP:0000121 | Nephrocalcinosis HP:0003127 | Hypocalciuria HP:0008250 | Infantile hypercalcemia HP:0003529 | Parathormone-independent increased renal tubular calcium reabsorption HP:0000787 | Renal calculi HP:0003072 | Hypercalcemia HP:0002199 | Hypocalcemic seizures HP:0003513 | Reduced ratio of renal calcium clearance to creatinine clearance HP:0002315 | Headache HP:0002749 | Osteomalacia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 795 |
|---|---|
| Disease | familial hypocalciuric hypercalcemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:31) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893705 | 12469911 | 846 | CASR | umls:C0342637 | BeFree | This report is the first to show that an R648stop CaR mutation yields a truncated receptor that is expressed on the cell surface but is devoid of biological activity, resulting in FHH. | 0.588425452 | 2002 | CASR | 3 | 122283896 | C | G,T |
| rs104893705 | 11231970 | 846 | CASR | umls:C0342637 | BeFree | We have identified a novel R648X mutation in the CaSR gene in one patient with FHH in Taiwan | 0.588425452 | 2001 | CASR | 3 | 122283896 | C | G,T |
| rs121909260 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122257275 | A | C,G |
| rs121909262 | 11095989 | 846 | CASR | umls:C0342637 | BeFree | A 44-year-old female with familial hypocalciuric hypercalcemia (FHH) due to a homozygous missense mutation (Pro40Ala) in calcium sensing receptor (CaSR) gene has type 2 diabetes mellitus. | 0.588425452 | 2000 | CASR | 3 | 122254304 | C | G,T |
| rs121909262 | 24517148 | 846 | CASR | umls:C0342637 | BeFree | Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C) or neonatal severe hyperparathyroidism (W718X) was assessed. | 0.588425452 | 2014 | CASR | 3 | 122254304 | C | G,T |
| rs142704083 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122285045 | G | A |
| rs17107315 | 16497624 | 846 | CASR | umls:C0342637 | BeFree | In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (heterozygous CASR gene mutation L173P) and a mutation in the pancreatic secretory trypsin inhibitor gene (SPINK1) (N34S). | 0.588425452 | 2006 | SPINK1 | 5 | 147828115 | T | C |
| rs193922419 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122262093 | A | C |
| rs193922420 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122254295 | G | A |
| rs193922421 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122262279 | G | A |
| rs193922422 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122275946 | GTTT | - |
| rs193922423 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122275959 | G | A |
| rs193922423 | 17698911 | 846 | CASR | umls:C0342637 | UNIPROT | Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. | 0.588425452 | 2007 | CASR | 3 | 122275959 | G | A |
| rs193922424 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122254355 | G | - |
| rs193922425 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122282180 | C | A,T |
| rs193922426 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122282189 | G | C |
| rs193922427 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | NA | NA | NA | NA | NA |
| rs193922429 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122283838 | C | - |
| rs193922431 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122283968 | C | A |
| rs193922432 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122257101 | G | A |
| rs193922433 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122284197 | C | A |
| rs193922434 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122284208 | C | T |
| rs193922435 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122284389 | T | C |
| rs193922436 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122284443 | G | A |
| rs193922437 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122284598 | A | T |
| rs193922439 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122257164 | A | C |
| rs193922441 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122261531 | A | G |
| rs193922442 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122261589 | G | - |
| rs193922443 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122261678 | G | A,C |
| rs193922444 | NA | 846 | CASR | umls:C0342637 | CLINVAR | NA | 0.588425452 | NA | CASR | 3 | 122262009 | G | A |
| rs62269092 | 22422767 | 846 | CASR | umls:C0342637 | BeFree | Furthermore, a CaSR variant (Glu250Lys) was identified in FHH and ADHH probands and demonstrated to represent a functionally neutral polymorphism. | 0.588425452 | 2012 | CASR | 3 | 122261783 | G | A |
GWASdb Annotation(Total Genotypes:1) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 10 | 5944233 | rs6602330 | NM_178150,FBXO18 | NM_032807,FBXO18 | ENST00000397269,ENSG00000134452 | ENST00000362091,ENSG00000134452 | ENST00000470089,ENSG00000134452 | ENST00000462507,ENSG00000134452 | ENST00000379999,ENSG00000134452 | ENST00000469009,ENSG00000134452 | NA | NA | chr10,5940001,5950000,chr18,59340001,59350000,6,Hi-C | chr10,5940001,5950000,chr10,6870001,6880000,6,Hi-C | NA | LM14,41.8802 | LM52,1.4536 | LM96,1.9736 | LM115,3.4002 | LM140,4.0815 | NA | NA | NA | NA | NA | NA | 0.000 | -0.941 | -4.48 | R4 | T | NA | NA | NA | NA | NA | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003529 | Parathormone-independent increased renal tubular calcium reabsorption | MP:0000194 | increased circulating calcium level | abnormally high concentration of calcium ions in the circulating blood |
| 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 |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002199 | Hypocalcemic seizures | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0008250 | Infantile hypercalcemia | MP:0011228 | abnormal vitamin D level | any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002017 | Nausea and vomiting | 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:0004398 | Peptic ulcer | 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:0003529 | Parathormone-independent increased renal tubular calcium reabsorption | MP:0011278 | increased ear pigmentation | visually detectable excess of pigment present in the outer ear |
| HP:0012032 | Lipoma | 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:0002918 | Hypermagnesemia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0003127 | Hypocalciuria | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000121 | Nephrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002749 | Osteomalacia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000934 | Chondrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002574 | Episodic abdominal pain | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| Disease ID | 795 |
|---|---|
| Disease | familial hypocalciuric hypercalcemia |
| Case | (Waiting for update.) |