Familial Hypocalciuric Hypercalcemia

Preferred Label : Familial Hypocalciuric Hypercalcemia;

NCIt related terms : Familial Benign Hypercalcemia;

NCIt definition : A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and hypocalciuria.;

Alternative definition : NICHD: Familial hypocalciuric hypercalcemia types 1,2, and 3 are a group of autosomal dominant conditions due to loss of function mutation(s) of the CASR, GNA11, and AP2S1 genes, respectively. These genes encode the extracellular calcium-sensing receptor, the guanine nucleotide-binding protein subunit alpha-11, and the AP-2 complex subunit sigma. The condition is characterized by inappropriately low urinary calcium excretion and parathyroid hormone concentration in the presence of mild hypercalcemia.;

Details

Origin ID

C123262;

UMLS CUI

C1809471;

Automatic exact mappings (from CISMeF team)
- Familial benign hypercalcemia [MedDRA LLT]
- Familial hypocalciuric hypercalcaemia [ICD-11 Subcategory]
- Familial hypocalciuric hypercalcaemia [MedDRA Preferred Term]
- Familial hypocalciuric hypercalcemia [MedDRA LLT]
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia (disorder) [SNOMED CT concept]
- Hypocalciuric hypercalcemia, familial, type I [OMIM Phenotype]
- familial hyperparathyroidism [SNOMED Notion]
- familial hypocalciuric hypercalcemia [DO Concept]
- hypocalciuric hypercalcemia, familial, type 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial benign hypercalcaemia [MedDRA LLT]
- Familial benign hypercalcemia [MedDRA LLT]
- Familial benign hypercalcemia (disorder) [Inactive SNOMED CT concept]
- Familial hypocalciuric hypercalcaemia [MedDRA Preferred Term]
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia [MedDRA LLT]
- Familial hypocalciuric hypercalcemia (disorder) [SNOMED CT concept]
- familial hypocalciuric hypercalcemia [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
related_to_genetic_biomarker
- CASR Gene [NCIt concept]
- GNA11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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