Uncombable Hair Syndrome 1 (UHS1)

Alias:
Uncombable Hair Syndrome
Pili Trianguli Et Canaliculi
Uhs
Unmanageable Hair Syndrome
Cheveux Incoiffables
Spun Glass Hair
Uhs1
Hair, Uncombable Syndrome, Type 1
Hair, Uncombable Syndrome
Chevelure En Vadrouille
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Uncombable Hair Syndrome 1, also known as uncombable hair syndrome, is related to loose anagen hair syndrome and intellectual disability-polydactyly-uncombable hair syndrome. An important gene associated with Uncombable Hair Syndrome 1 is PADI3 (Peptidyl Arginine Deiminase 3). Affiliated tissues include skin and heart, and related phenotypes are coarse hair and white hair
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
3
22
13

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

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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