Hypercalciuria, absorptive, 2

Preferred Label : Hypercalciuria, absorptive, 2;

Symbol : HCA2;

CISMeF acronym : HCA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypercalciuria, familial idiopathic;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the soluble adenylyl cyclase gene (SAC, 605205.0001);

Laboratory abnormalities : Hypercalciuria; Increased erythrocyte-membrane calcium-magnesium-ATPase; Increased sodium-potassium pump activity;

Prefixed ID : #143870;

Détails

Origin ID

143870;

UMLS CUI

C0342639;

Automatic exact mappings (from CISMeF team)
- Familial idiopathic hypercalciuria (disorder) [SNOMED CT concept]
- Hypercalciuria [ICD-11 Subcategory]
- MAGE family member C3 [HGNC gene]
- adenylate cyclase 10 [ORDO Gene]
- adenylate cyclase 10 [HGNC gene]
- hydroxycarboxylic acid receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Disorders of calcium metabolism [ICD-10 Sub-category]
- Disorders of calcium metabolism [ICD-10 Sub-category (who)]
- Idiopathic hypercalciuria [ORDO Disease]
- Idiopathic hypercalciuria [MedDRA LLT]
- hypercalciuria, absorptive, 2 [MeSH concept]
- hypercalciuria, absorptive, 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Adenylate cyclase 10 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calcium oxalate nephrolithiasis [HPO term]
- Hypercalciuria [HPO term]
ORDO concept(s)
- Idiopathic hypercalciuria [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Familial idiopathic hypercalciuria (disorder) [SNOMED CT concept]
- hypercalciuria, absorptive, 2 [MeSH Supplementary Concept]
- hypercalciuria, absorptive, 2 [MeSH concept]
Validated automatic mappings to NTBT
- calcium metabolism disorder [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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