Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 (EEC1)

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1(来自ICD-11)
别称:
Eec Syndrome
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome
Rudiger Syndrome 1
Eec Syndrome 1
Eec Syndrome-1
Eec1
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Ectrodactyly-Cleft Lip-Palate Syndrome
Walker-Clodius Syndrome
Eec
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1, also known as eec syndrome, is related to cleft lip and cleft lip/palate, and has symptoms including photophobia An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 is TP63 (Tumor Protein P63), and among its related pathways/superpathways are mTOR Signaling and Head and neck squamous cell carcinoma. Affiliated tissues include skin and eye, and related phenotypes are carious teeth and thick eyebrow
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基础信息

遗传方式
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参考文献
MALACARDS
AD
Antenatal
1-9/100000
25
217
50

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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