Hypotrichosis 7 (HYPT7)

毛发缺少症7型(来自ICD-11)

别称:

Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis

Hypotrichosis, Localized, Autosomal Recessive 2

Hypt7

Lah2

Hypotrichosis, Autosomal Recessive

Hypotrichosis, Total, Mari Type

Total Hypotrichosis, Mari Type

Wh/ht

Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis

Woolly Hair Autosomal Recessive 2 with or Without Hypotrichosis

Autosomal Recessive Woolly Hair with or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 2

Autosomal Recessive Localized Hypotrichosis

Alopecia Universalis Congenita Mari Type

Autosomal Recessive Hypotrichosis

Hypotrichosis Autosomal Recessive

Woolly Hair Autosomal Recessive 2

Hypotrichosis, Type 7, Mari Type

Total Mari Type Hypotrichosis

Total Hypotrichosis Mari Type

Hypotrichosis

Hypotrichoses

Arwh2

Lah

Htl

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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

7号无毛症，也被称为羊毛状毛发，常染色体隐性2型，伴有或不伴有无毛症，与3号无毛症和先天性无毛症，青少年黄斑性视网膜病变有关。与7号无毛症有关的重要基因是LIPH（脂酶H），其相关通路/超级通路包括角质化。在该疾病的背景下，已提到的药物包括Bimatoprost和抗高血压药物。附属组织包括皮肤和骨骼，相关表型为羊毛状毛发和稀疏毛发。

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