Details of Disease

General Information of Disease (ID: DIS0K7FK)

Disease Name Familial hypocalciuric hypercalcemia
Synonyms hypocalciuric hypercalcemia; FBH; FBHH; FHH; familial benign hypocalciuric hypercalcemia; familial benign hypercalcemia
Definition
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
Disease Hierarchy
DISRGY2N: Endocrine disease
DISO5FAY: Inborn error of metabolism
DIS7FXIH: Interstitial lung disease specific to childhood
DISKQ2K7: Hypercalcaemia
DIS0K7FK: Familial hypocalciuric hypercalcemia
Disease Identifiers
MONDO ID
MONDO_0018458
UMLS CUI
C1809471
MedGen ID
369200
Orphanet ID
405
SNOMED CT ID
237885008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GNA11 TTSRXJW Strong Genetic Variation [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ATP2B1 DTJWQ1L Definitive Altered Expression [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP2B2 OT1NPZ9T Definitive Altered Expression [2]
ATP2B3 OT9DIEOP Definitive Altered Expression [2]
RNASE1 OTKZ7CO9 Definitive Genetic Variation [3]
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References

1 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.
2 Calcium-ATPase activity in erythrocyte ghosts from patients with familial benign hypercalcaemia.Scand J Clin Lab Invest. 1985 Jun;45(4):349-53. doi: 10.3109/00365518509161018.
3 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.