Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP)

遗传性纤维化皮肤异色症伴肌腱挛缩-肌病-肺纤维化(来自ICD-11)

别称:

Hereditary Sclerosing Poikiloderma with Tendon and Pulmonary Involvement

Poiktmp

Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Poiktmp Syndrome

Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome

Poikiloderma, Hereditary Fibrosing, Tendon Contractures, Myopathy, Pulmonary Fibrosis

Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosi

Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement

Hfp

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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

色素性、先天性半发育不良伴鱼鳞病样红皮病和肢体缺陷的稀释、色素性和先天性半发育不良，也称为遗传性结缔组织性色素性鱼鳞病伴肌腱和肺部受累，与Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis有关。与Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis有关的重要基因是FAM111B（FAM111B类胰蛋白酶样肽酶）。相关组织包括皮肤和胰腺，相关表型为肌肉无力和延迟性青春期。

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