MeSH Browser

MeSH Supplementary: Hypocalciuric hypercalcemia, familial, type 1
Unique ID: C537145
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537145
Entry Term(s): Familial Benign Hypercalcemia 1; Familial benign hypercalcemia type 1; Familial hypocalciuric hypercalcemia; Hypercalcemia, Familial Benign; Hypercalcemia, familial benign type 1; Hypocalciuric Hypercalcemia, Familial, Type I
Heading Mapped to: Hypercalcemia / congenital
Frequency: 104
Note: A heritable form of hypercalcemia that is transmitted as an autosomal dominant trait with a high degree of PENETRANCE. It is characterized by chronic elevation of serum calcium levels, very low urinary calcium excretion, normal to slightly elevated circulating PARATHYROID HORMONE levels, and hypermagnesemia. Affected individuals are usually asymptomatic, but CHONDROCALCINOSIS and PANCREATITIS may occur in some cases. Mutations in the CASR gene have been identified. OMIM: 145980
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Hypocalciuric hypercalcemia, familial, type 1 MeSH Supplementary Concept Data 2024