Cleft Lip/palate-Ectodermal Dysplasia Syndrome (CLPED1)

唇/腭裂-外胚层发育不良综合征(来自ICD-11)

别称:

Orofacial Cleft 7

Zlotogora-Ogur Syndrome

Clped1

Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate

Cleft Lip/palate-Syndactyly-Pili Torti Syndrome

Cleft Lip-Palate-Ectodermal Dysplasia Syndrome

Ectodermal Dysplasia, Margarita Island Type

Ectodermal Dysplasia Margarita Type

Ectodermal Dysplasia 4

Ed4

Ectodermal Dysplasia, Cleft Lip and Palate, Mental Retardation, and Syndactyly

Non-Syndromic Cleft Lip with or Without Cleft Palate 7

Syndactyly-Ectodermal Dysplasia-Cleft Lip/palate

Ectodermal Dysplasia 4, Hair/nail Type

Margarita Type of Ectodermal Dysplasia

Zlotogora-Zilberman-Tenenbaum Syndrome

Margarita Island Ectodermal Dysplasia

Non-Syndromic Cleft Lip/palate 7

Non-Syndromic Orofacial Cleft 7

Ectodermal Dysplasia, Type 4

Ectodermal Dysplasia Type 4

Ectd4

Edmi

Ofc7

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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

唇裂/腭裂-表皮发育不良综合征，也称为口腔颌面部裂7，与唇裂/腭裂和表皮发育不良有关。唇裂/腭裂-表皮发育不良综合征的一个重要相关基因是NECTIN1（Nectin细胞粘附分子1），其相关通路/超级通路包括PAK通路和Sertoli-Sertoli细胞连接动力学。相关组织包括皮肤和骨骼，相关表型为巨耳和上唇裂。

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