Hypocalciuric hypercalcemia, familial, type I

Preferred Label : Hypocalciuric hypercalcemia, familial, type I;

Symbol : HHC1;

CISMeF acronym : FBH1; FHH; FHH1; HHC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Familial benign hypercalcemia 1; Hypercalcemia, familial benign; FHH1; FBH1; Hhc; FHH;

Included titles and symbols : Hypocalciuric hypercalcemia, acquired;

Description : Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH; 168450) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010). - Genetic Heterogeneity of Hypocalciuric Hypercalcemia Familial hypocalciuric hypercalcemia type II (HHC2; 145981) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13, and HHC3 (600740) is caused by mutation in the AP2S1 gene (602242) on chromosome 19q13.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium-sensing receptor gene (CASR, 601199.0001);

Laboratory abnormalities : Hypocalciuria; Hypercalcemia; Hypermagnesemia; Urinary calcium-creatinine ratio 0.01:1 supports diagnosis; Normal concentration of parathyroid hormone; Hypercalciuria (in some patients);

Prefixed ID : #145980;

Details

Origin ID

145980;

UMLS CUI

C0342637;

Automatic exact mappings (from CISMeF team)
- Acquired hypocalciuric hypercalcemia [ICD-11 More detail]
- Familial Hypocalciuric Hypercalcemia [NCIt concept]
- Familial benign hypercalcemia [MedDRA LLT]
- Familial hypocalciuric hypercalcaemia [ICD-11 Subcategory]
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia (disorder) [SNOMED CT concept]
- Familial hypocalciuric hypercalcemia type 1 [ORDO Disease]
- Hypocalciuric hypercalcemia, familial, type 1 [MeSH concept]
- calcium sensing receptor [ORDO Gene]
- familial hypocalciuric hypercalcemia [DO Concept]
- familial hypocalciuric hypercalcemia 1 [DO Concept]
- hypocalciuric hypercalcemia, acquired [MeSH concept]
- hypocalciuric hypercalcemia, acquired [MeSH Supplementary Concept]
- hypocalciuric hypercalcemia, familial, type 1 [MeSH Supplementary Concept]
- symbol withdrawn HHC1 [HGNC gene]
Broader ORDO disease(s)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
DO Cross reference
- familial hypocalciuric hypercalcemia 1 [DO Concept]
Genes related to phenotype
- Calcium-sensing receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hypermagnesemia [HPO term]
- Hyperparathyroidism [HPO term]
- Hypocalciuria [HPO term]
- Nephrolithiasis [HPO term]
- Pancreatitis [HPO term]
- Parathyroid adenoma [HPO term]
ORDO concept(s)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia type 1 [ORDO Disease]
See also inter- (CISMeF)
- Acquired hypocalciuric hypercalcemia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypocalciuric hypercalcemia type 1 [ORDO Disease]
- Hypocalciuric hypercalcemia, familial, type 1 [MeSH concept]
- hypocalciuric hypercalcemia, familial, type 1 [MeSH Supplementary Concept]

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