" /> Hypocalciuric hypercalcemia, familial, type III - CISMeF





Preferred Label : Hypocalciuric hypercalcemia, familial, type III;

Symbol : HHC3;

CISMeF acronym : FBH3; HHC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypercalcemia, familial benign, type III; Familial benign hypercalcemia, type III; Hypercalcemia, familial benign, oklahoma type; FBH3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the adaptor-related protein complex 2, sigma-1 subunit gene (AP2S1, 602242.0001);

Laboratory abnormalities : Hypocalciuria; Hypercalcemia; Hypermagnesemia, mild; Hypophosphatemia, mild;

Prefixed ID : #600740;

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03/05/2025


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