Photoparoxysmal Response 1 (PPR1)

Alias:
Photosensitivity Disease
Photosensitivity Disorders
Photoconvulsive Reaction
Photosensitivity of Skin
Dermatitis, Phototoxic
Epilepsy, Photogenic
Photosensitivity
Photodermatitis
Ppr1
Ppr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Photoparoxysmal Response 1, also known as photosensitivity disease, is related to porphyria, congenital erythropoietic and protoporphyria, erythropoietic, 1, and has symptoms including exanthema, pruritus and photophobia. An important gene associated with Photoparoxysmal Response 1 is PPR1 (Photoparoxysmal Response 1), and among its related pathways/superpathways are Hemesynthesis defects and porphyrias and TRP channels. The drugs Fluorouracil and Diclofenac have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are eeg with photoparoxysmal response and Increased shRNA abundance (Z-score > 2)
Related ID:
MESH:D010787
ICD11:374142503

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
13
90
8

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
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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