Ectodermal Dysplasia 4, Hair/nail Type (ECTD4)

Alias:
Pure Hair and Nail Ectodermal Dysplasia
Ectodermal Dysplasia, Pure Hair-Nail Type
Ectd4
Ectodermal Dysplasia, 'pure' Hair/nail Type
Ectodermal Dysplasia, 'pure' Hair-Nail Type
Ectodermal Dysplasia Pure Hair-Nail Type
Dysplasia, Ectodermal, Type 4, Hair/nail
Hair-Nail Ectodermal Dysplasia
Phned
Hned
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectodermal Dysplasia 4, Hair/nail Type, also known as pure hair and nail ectodermal dysplasia, is related to ectodermal dysplasia 7, hair/nail type and ectodermal dysplasia 9, hair/nail type. An important gene associated with Ectodermal Dysplasia 4, Hair/nail Type is KRT85 (Keratin 85), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skin, and related phenotypes are sparse body hair and intellectual disability
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
26
202
3

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

Title
PMID
Journal
Year
IF
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