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Retinitis Pigmentosa 76 (RP76)

Alias:
Rp76
Retinitis Pigmentosa, Type 76
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 76, also known as rp76, is related to muscular dystrophy-dystroglycanopathy , type a, 3 and muscular dystrophy-dystroglycanopathy. An important gene associated with Retinitis Pigmentosa 76 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include retina and bone, and related phenotypes are reduced visual acuity and nyctalopia
Related ID：
MALACARDS：RTN190
OMIM：617123
MESH：D012174

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
11
15
RTN190

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
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Score
Mutations
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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
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IF
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