Wrinkly Skin Syndrome (WSS)

Alias:
Wss
Wrinkled Skin Syndrome
Skin, Wrinkly, Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Wrinkly Skin Syndrome, also known as wss, is related to cutis laxa, autosomal recessive, type iib and immunodeficiency 47. An important gene associated with Wrinkly Skin Syndrome is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways are Keratinization and Amino acid metabolism. Affiliated tissues include skin and bone, and related phenotypes are excessive skin wrinkling on dorsum of hands and fingers and failure to thrive
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
19
75
35

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

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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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