Lipoid Congenital Adrenal Hyperplasia (LCAH)

Alias:

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Lipoid Cah

Cah

Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism

Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism

Congenital Adrenogenital Disorders Associated with Enzyme Deficiency

Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency

Congenital Female Adrenal Pseudohermaphroditism

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Hyperplasia, Lipoid

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Adrenal Hyperplasia, Congenital

Congenital Hyperadrenocorticism

Adrenal Hyperplasia Congenital

Congenital Adrenogenitalism

Adrenal Hyperplasia I

Lcah

Ah1

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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

脂质性先天性肾上腺增生症，又称先天性肾上腺增生症，与肾上腺增生症、先天性、由于类固醇11-β-羟化酶缺乏和肾上腺增生症、先天性、由于17-α-羟化酶缺乏有关。脂质性先天性肾上腺增生症相关的重要基因是STAR（类固醇急性调节蛋白），其相关通路/超通路包括代谢和代谢途径生物转化阶段I和II。在该疾病的背景下，已提到的药物有泼尼松和地塞米松。附属组织包括肾上腺皮质和皮质，相关表型为尿道下裂和肾盐排泄丧失。

Related ID：

MALACARDS：LPD012

OMIM：201710

MESH：D000312

ICD11：172733763