Retinitis Pigmentosa 42 (RP42)

Alias:
Rp42
Retinitis Pigmentosa, Type 42
Retinitis Pigmentosa-42
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 42, also known as rp42, is related to developmental and epileptic encephalopathy 11 and cold-induced sweating syndrome 3. An important gene associated with Retinitis Pigmentosa 42 is KLHL7 (Kelch Like Family Member 7), and among its related pathways/superpathways is Ciliary landscape. Affiliated tissues include retina and eye, and related phenotypes are reduced visual acuity and rod-cone dystrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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10
46
5

Medical Symptom

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

Gene & Mutation

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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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