Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)

Alias:
Christ-Siemens-Touraine Syndrome
Xhed
Ectodermal Dysplasia 1
X-Linked Anhidrotic Ectodermal Dysplasia
Cst Syndrome
Xlhed
Ed1
Ectodermal Dysplasia 1, Hypohidrotic/hair/tooth Type, X-Linked
Ectodermal Dysplasia, Anhidrotic, X-Linked
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrotic X-Linked Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Ectd1
Eda1
Hed1
Eda
Ectodermal Dysplasia 1 Hypohidrotic/hair/tooth Type X-Linked
Dysplasia, Ectodermal, Type 1, Hypohidrotic, X-Linked
Hypohidrotic Ectodermal Dysplasia, X-Linked
Ectodermal Dysplasia, Hypohidrotic, 1
Ectodermal Dysplasia Anhidrotic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked, also known as christ-siemens-touraine syndrome, is related to ectodermal dysplasia and immune deficiency and ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including dyspnea, dry skin and koilonychia. An important gene associated with Ectodermal Dysplasia 1, Hypohidrotic, X-Linked is EDA (Ectodysplasin A), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Colorectal Cancer Metastasis. The drugs Immunoglobulins and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are everted lower lip vermilion and microdontia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
1-9/1000000
21
252
156

Medical Symptom

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

Gene & Mutation

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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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