Details of Disease

General Information of Disease (ID: DISPW6O5)

Disease Name Familial hypocalciuric hypercalcemia 1
Synonyms
hypercalcemia, familial benign type 1; familial benign hypercalcemia type 1; hypocalciuric hypercalcemia, familial, type 1; FBH1; hypocalciuric hypercalcemia, acquired; hypercalcemia, familial benign; hypocalciuric hypercalcemia, familial, type I; Fhh1; familial hypocalciuric hypercalcemia caused by mutation in CASR; HHC1; hypocalciuric hypercalcemia type I; FHH type 1; familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia type I; CASR familial hypocalciuric hypercalcemia; familial hypocalciuric hypercalcemia type 1; hpocalciuric hypercalcemia, type I
Definition Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.
Disease Hierarchy
DIS5A054: Abnormal mineralization disorder
DIS0K7FK: Familial hypocalciuric hypercalcemia
DISPW6O5: Familial hypocalciuric hypercalcemia 1
Disease Identifiers
MONDO ID
MONDO_0007791
MESH ID
C537145
UMLS CUI
C0342637
OMIM ID
145980
MedGen ID
137973
Orphanet ID
93372

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ASRGL1 TT4WT91 Limited Genetic Variation [1]
GNA11 TTSRXJW Strong Genetic Variation [2]
PTH TT6F7GZ Strong Altered Expression [3]
CASR TTBUYHA Definitive Autosomal dominant [4]
SLC11A2 TT2IS7P Definitive Altered Expression [5]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
NAT10 DEZV4AP Limited Genetic Variation [1]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALPP OTZU4G9W Limited Genetic Variation [1]
ATRNL1 OTY5JUX2 Limited Genetic Variation [1]
CCL27 OTUZYC61 Limited Genetic Variation [1]
PDLIM3 OTVXQC81 Limited Genetic Variation [1]
AQP2 OTQLBKK6 Strong Altered Expression [6]
CDC73 OT6JASZ1 Strong Biomarker [7]
HFE OTDD93KB Strong Biomarker [8]
PTRH1 OTOAOS93 Strong Biomarker [9]
TRPV5 OTWF4L0U Strong Biomarker [10]
CASR OT2PEJDO Definitive Autosomal dominant [4]
CHMP2B OTZA7RJB Definitive Altered Expression [5]
DMRT1 OT5PU9U1 Definitive Altered Expression [5]
RNASE1 OTKZ7CO9 Definitive Genetic Variation [11]
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⏷ Show the Full List of 13 DOT(s)

References

1 Association between iron overload and osteoporosis in patients with hereditary hemochromatosis.Osteoporos Int. 2009 Apr;20(4):549-55. doi: 10.1007/s00198-008-0701-4. Epub 2008 Jul 26.
2 Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function G(11) Mutation.J Bone Miner Res. 2018 Jan;33(1):32-41. doi: 10.1002/jbmr.3241. Epub 2017 Sep 22.
3 Cinacalcet sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation.Pancreatology. 2019 Sep;19(6):801-804. doi: 10.1016/j.pan.2019.07.045. Epub 2019 Jul 30.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5 Duodenal expression of iron transport molecules in patients with hereditary hemochromatosis or iron deficiency.J Cell Mol Med. 2012 Aug;16(8):1816-26. doi: 10.1111/j.1582-4934.2011.01458.x.
6 The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene.Eur J Endocrinol. 2016 Oct;175(4):299-309. doi: 10.1530/EJE-16-0369. Epub 2016 Jul 14.
7 Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.Endocr Relat Cancer. 2018 Feb;25(2):T15-T28. doi: 10.1530/ERC-17-0266. Epub 2017 Sep 5.
8 R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis.Eur J Radiol. 2017 Apr;89:149-155. doi: 10.1016/j.ejrad.2017.02.006. Epub 2017 Feb 5.
9 Neonatal hypercalcemia.J Nephrol. 2003 Jul-Aug;16(4):606-8.
10 WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4.Am J Physiol Renal Physiol. 2007 Feb;292(2):F545-54. doi: 10.1152/ajprenal.00187.2006. Epub 2006 Oct 3.
11 Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors.J Clin Endocrinol Metab. 1995 Nov;80(11):3107-10. doi: 10.1210/jcem.80.11.7593409.