Adrenal hypoplasia, congenital

Preferred Label : Adrenal hypoplasia, congenital;

Symbol : AHC;

CISMeF acronym : AHC; AHCH; AHX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : AHCH; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; Addison disease, X-linked; AHX; Ahc with isolated gonadotropin deficiency; Ahc with hhg; Cytomegalic adrenocortical hypoplasia;

Description : Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see 240200) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999). A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (307030), and Duchenne muscular dystrophy (DMD; 310200) is caused by deletion of multiple genes on chromosome Xp21 (see 300679).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 0, group B, member 1 gene (NR0B1, 300473.0001);

Laboratory abnormalities : Hyponatremia; Decreased serum cortisol; Decreased serum follicle-stimulating hormone (FSH); Decreased serum luteinizing hormone (LH); Decreased serum androgens; Decreased serum testosterone; Increased adrenocorticotropic hormone (ACTH);

Prefixed ID : #300200;

Details

Origin ID

300200;

UMLS CUI

C0342482;

Automatic exact mappings (from CISMeF team)
- Acute epidemic haemorrhagic conjunctivitis [ICD-11 Subcategory]
- Adrenal hypoplasia congenita [ORDO Disease]
- Alternating hemiplegia of childhood [ORDO Disease]
- Congenital Adrenal Gland Hypoplasia [NCIt concept]
- Congenital adrenal hypoplasia [ICD-11 Category]
- Congenital adrenal hypoplasia [HPO term]
- Congenital hypoplasia of adrenal gland (disorder) [SNOMED CT concept]
- Hypoadrenocorticism, Familial [MeSH Descriptor]
- NR0B1 wt Allele [NCIt concept]
- X-linked adrenal hypoplasia congenita [DO Concept]
- a-Hexachlorocyclohexane [NCIt concept]
- alternating hemiplegia of childhood [DO Concept]
- anterior hypothalamic commissure [UBERON concept]
- nuclear receptor subfamily 0 group B member 1 [ORDO Gene]
- symbol withdrawn AHC [HGNC gene]
DO Cross reference
- X-linked adrenal hypoplasia congenita [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 0, group b, member 1 [OMIM gene]
HPO term(s)
- Absence of pubertal development [HPO term]
- Adrenal hypoplasia [HPO term]
- Adrenal insufficiency [HPO term]
- Azoospermia [HPO term]
- Childhood onset [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating aldosterone level [HPO term]
- Decreased circulating cortisol level [HPO term]
- Dehydration [HPO term]
- Delayed puberty [HPO term]
- Failure to thrive [HPO term]
- Glucocorticoid insufficiency [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hyponatremia [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Mineralocorticoid insufficiency [HPO term]
- Muscular dystrophy [HPO term]
- Neonatal onset [HPO term]
- Oligospermia [HPO term]
- Precocious puberty [HPO term]
- Primary adrenal insufficiency [HPO term]
- Primary adrenocortical failure [HPO term]
- Renal salt wasting [HPO term]
- X-linked recessive inheritance [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- X-linked adrenal hypoplasia congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Adrenal Gland Hypoplasia [NCIt concept]
- Congenital adrenal gland hypoplasia [MedDRA Preferred Term]
- Congenital adrenal hypoplasia [HPO term]
- Congenital adrenal hypoplasia, X-linked (disorder) [SNOMED CT concept]
- Congenital hypoplasia of adrenal gland (disorder) [SNOMED CT concept]
- X-Linked Adrenal Hypoplasia Congenita [NCIt concept]
- X-linked adrenal hypoplasia congenita [ORDO Disease]
- congenital hypoplasia of adrenal gland [SNOMED Notion]

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