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X-linked adrenal hypoplasia congenita

Disease Summary
Associated Targets (20)
Tbio

12

Tclin

4

Tchem

4


GARD Rare
Mondo Description A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.
Uniprot Description A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.
Disease Ontology Description An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.
Mondo Term and Equivalent IDs
MONDO:0010264:  X-linked adrenal hypoplasia congenita
GARD:0000555: 
NCIT:C123725: 
Orphanet:95702: 
SCTID:93235007: 
UMLS:C0342482: