Adrenal Hypoplasia, Congenital (AHC)

Alias:

X-Linked Adrenal Hypoplasia Congenita

Congenital Adrenal Hypoplasia

Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism

X-Linked Ahc

Ahc

Ahc with Isolated Gonadotropin Deficiency

Congenital Adrenal Hypoplasia, X-Linked

X-Linked Congenital Adrenal Hypoplasia

Cytomegalic Adrenocortical Hypoplasia

Adrenal Hypoplasia Congenita

Ahc with Hhg

Ahch

Ahx

Adrenal Hypoplasia Congenital, X-Linked

X-Linked Adrenal Hypoplasia Congenital

Congenital Hypoplasia of Adrenal Gland

Cah - [congenital Adrenal Hypoplasia]

Congenital Adrenal Gland Hypoplasia

Congenital Small Adrenal Gland

Primary Adrenal Hypoplasia

Addison Disease, X-Linked

X-Linked Addison Disease

Adrenal Hypoplasia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Adrenal Hypoplasia, Congenital, also known as x-linked adrenal hypoplasia congenita, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and chromosome xp21 deletion syndrome. An important gene associated with Adrenal Hypoplasia, Congenital is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1), and among its related pathways/superpathways are Diseases of glycosylation and Metabolism of steroids. Affiliated tissues include adrenal gland and adrenal cortex, and related phenotypes are oligozoospermia and hyperpigmentation of the skin

Related ID：

MALACARDS：ADR049

OMIM：300200

MESH：D000309

ICD11：265522474