Lipoid congenital adrenal hyperplasia

Preferred Label : Lipoid congenital adrenal hyperplasia;

Symbol : LCAH;

CISMeF acronym : LCAH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adrenal hyperplasia I; Lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism;

Description : Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996).;

Inheritance : Autosomal recessive;

Prefixed ID : #201710;

Details

Origin ID

201710;

UMLS CUI

C0342474;

Automatic exact mappings (from CISMeF team)
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) [SNOMED CT concept]
- Congenital Adrenal Hyperplasia [NCIt concept]
- Congenital Lipoid Adrenal Hyperplasia [NCIt concept]
- congenital adrenal hyperplasia [DO Concept]
Currated CISMeF NLP mapping
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Lipoid congenital adrenal hyperplasia [MeSH concept]
- congenital lipoid adrenal hyperplasia [Disease (Nov.)]
- lipoid congenital adrenal hyperplasia [MeSH Supplementary Concept]
DO Cross reference
- congenital adrenal hyperplasia [DO Concept]
Genes related to phenotype
- Steroidogenic acute regulatory protein [OMIM gene]
HPO term(s)
- Adrenogenital syndrome [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital adrenal hyperplasia [HPO term]
- Hypospadias [HPO term]
- Renal salt wasting [HPO term]
ORDO concept(s)
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 20,22-desmolase deficiency [MedDRA Preferred Term]
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) [SNOMED CT concept]
- Congenital Lipoid Adrenal Hyperplasia [NCIt concept]
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Lipoid congenital adrenal hyperplasia [MeSH concept]
- cholesterol monooxygenase (side-chain cleaving) deficiency [SNOMED Notion]
- congenital lipoid adrenal hyperplasia [Disease (Nov.)]
- lipoid congenital adrenal hyperplasia [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Congenital adrenal hyperplasia [ORDO Disease]

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