| H00245 | |
| H number | H00245 |
| Name | Calcium sensing receptor (CASR) related disease |
| Description | The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function mutations in the CASR gene are responsible for familial hypocalciuric hypercalcemia (FHH1) and for neonatal severe hyperparathyroidism (NSHPT). FHH1 is caused by homozygous mutations and characterized by benign symptoms with mild hypercalcaemia, whereas NSHPT is caused by homozygous mutations and characterized by more severe ones with severe hypercalcaemia and hyperparathyroid bone disease. Gain-of-function mutations are responsible for autosomal dominant hypocalcemia (ADH) that characterized by seizures in infancy, moderate hypocalcaemia and, absolute hypercalciuria. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | CASR [HSA:846] [KO:K04612] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C64.5 ICD-10: E83.5 MeSH: C537145 C563375 C562783 OMIM: 145980 239200 146200 601198 |
| Reference | PMID:18328986 AUTHORS Egbuna OI, Brown EM TITLE Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. JOURNAL Best Pract Res Clin Rheumatol 22:129-48 (2008) DOI:10.1016/j.berh.2007.11.006 PMID:11706743 AUTHORS Heath DA TITLE Familial hypocalciuric hypercalcemia. JOURNAL Rev Endocr Metab Disord 1:291-6 (2000) DOI:10.1023/A:1026566418011 PMID:11033758 AUTHORS Brown EM TITLE Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium. JOURNAL Endocrinol Metab Clin North Am 29:503-22 (2000) DOI:10.1016/S0889-8529(05)70148-1 PMID:11013439 AUTHORS Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE TITLE Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. JOURNAL Hum Mutat 16:281-96 (2000) DOI:10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A |