Hypocalcemia, autosomal dominant 1

Preferred Label : Hypocalcemia, autosomal dominant 1;

Symbol : HYPOC1;

CISMeF acronym : HYPOC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypercalciuric hypocalcemia; Hypocalcemia, familial;

Included titles and symbols : Hypocalcemia, autosomal dominant 1, with bartter syndrome;

Description : Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013). Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see 146200). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder. - Genetic Heterogeneity of Autosomal Dominant Hypocalcemia Autosomal dominant hypocalcemia-2 (HYPOC2; 615361) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium-sensing receptor gene (CASR, 601199.0004);

Prefixed ID : #601198;

Details

Origin ID

601198;

UMLS CUI

C3715128;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant hypocalcemia (disorder) [SNOMED CT concept]
- hypercalciuric hypocalcemia, familial [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- autosomal dominant hypocalcemia 1 [DO Concept]
DO Cross reference
- autosomal dominant hypocalcemia 1 [DO Concept]
Genes related to phenotype
- Calcium-sensing receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Childhood onset [HPO term]
- Decreased circulating parathyroid hormone level [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Hypercalciuria [HPO term]
- Hyperphosphatemia [HPO term]
- Hypocalcemia [HPO term]
- Hypokalemia [HPO term]
- Hypomagnesemia [HPO term]
- Increased circulating renin level [HPO term]
- Juvenile onset [HPO term]
- Laryngospasm [HPO term]
- Muscle spasm [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Paresthesia [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Tetany [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Autosomal dominant hypocalcemia [ORDO Disease]
- Bartter syndrome [ORDO Disease]
- Familial isolated hypoparathyroidism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant hypocalcemia 1 [DO Concept]

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