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Albinism, Oculocutaneous, Type Vi (OCA6)

Alias:
Oculocutaneous Albinism Type 6
Oca6
Oculocutaneous Albinism Type Vi
Albinism, Oculocutaneous, 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Albinism, Oculocutaneous, Type Vi, also known as oculocutaneous albinism type 6, is related to oculocutaneous albinism and dilution, pigmentary. An important gene associated with Albinism, Oculocutaneous, Type Vi is SLC24A5 (Solute Carrier Family 24 Member 5). Affiliated tissues include skin and eye, and related phenotypes are nystagmus and photophobia
Related ID：
MALACARDS：ALB017
OMIM：113750
MESH：D016115

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
10
8
ALB017

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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