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Curly Hair-Acral Keratoderma-Caries Syndrome (CHACS)

Alias:
Chacs
Chac Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Curly Hair-Acral Keratoderma-Caries Syndrome, also known as chacs, is related to amed syndrome, digenic. An important gene associated with Curly Hair-Acral Keratoderma-Caries Syndrome is VPS13A (Vacuolar Protein Sorting 13 Homolog A). Affiliated tissues include skin and caudate nucleus.
Related ID：
MALACARDS：CRL002
OMIM：607656

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Child
<1/1000000
1
4
1
CRL002

Medical Symptom

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

Gene & Mutation

#
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
No Data Found!
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