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

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/100000
25
217
50

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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