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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肾上腺发育不全，先天性，又称性联肾上腺发育不全，与宫内发育迟缓、骨骺发育不良、肾上腺发育不全和生殖器异常以及染色体xp21缺失综合征有关。与先天性肾上腺发育不全有关的重要基因是NR0B1（核受体亚家族0组B成员1），其相关通路/超级通路包括糖基化疾病和类固醇代谢。附属组织包括肾上腺和肾上腺皮质，相关表型为少精子症和皮肤色素沉着。

Related ID：

MALACARDS：ADR049

OMIM：300200

MESH：D000309

ICD11：265522474