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


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
Registry Number
0
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 Preferred
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