Ectodermal Dysplasia

Alias:
Ectodermal Dysplasia Syndrome
Congenital Ectodermal Dysplasia
Congenital Ectodermal Defect
Dysplasia, Ectodermal
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectodermal Dysplasia, also known as congenital ectodermal dysplasia, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia 1, hypohidrotic, x-linked. An important gene associated with Ectodermal Dysplasia is EDA (Ectodysplasin A), and among its related pathways/superpathways are Innate Immune System and Signal Transduction. The drugs Immunoglobulins and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include Epidermis, skin and salivary gland, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region
Related ID:
MESH:D004476
ICD11:1156567558

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
6-9/10000
89
822
1

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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CAS Number
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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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