Protoporphyria, Erythropoietic, 1 (EPP1)

Alias:
Erythropoietic Protoporphyria
Epp
Autosomal Erythropoietic Protoporphyria
Protoporphyria, Erythropoietic
Ferrochelatase Deficiency
Protoporphyria
Erythrohepatic Protoporphyria
Heme Synthetase Deficiency
Epp1
Protoporphyria Erythropoietic
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Protoporphyria, Erythropoietic, 1, also known as erythropoietic protoporphyria, is related to x-linked protoporphyria and cutaneous porphyria, and has symptoms including edema, pruritus and burning sensation. An important gene associated with Protoporphyria, Erythropoietic, 1 is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Insulin receptor recycling. The drugs Afamelanotide and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are erythema and cutaneous photosensitivity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
30
251
66

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!
Wechat
Comparison
Al agent
Tutorials
Back to top