Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (ECTD10B)

Alias:
Hypohidrotic Ectodermal Dysplasia
Anhidrotic Ectodermal Dysplasia
Hed
Christ-Siemens-Touraine Syndrome
Ectodermal Dysplasia, Hypohidrotic
Ectodermal Dysplasia Anhidrotic
Ectd10b
Eda
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/hair/tooth, Autosomal Recessive
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive
Dysplasia, Ectodermal, Hypohidrotic
Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia, Anhidrotic
Cst Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 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 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (Ectodysplasin A Receptor), 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 skin and eye, and related phenotypes are abnormality of the dentition and abnormal facial shape
Related ID:
MESH:D004476
ICD11:673167184

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Newborn
1-9/100000
46
523
59

Medical Symptom

#
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

Name
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
Year
IF
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