Porphyria, Congenital Erythropoietic (CEP)

Alias:
Congenital Erythropoietic Porphyria
Gunther Disease
Cep
Günther Disease
Deficiency of Uroporphyrinogen Iii Synthase
Uroporphyrinogen Iii Synthase Deficiency
Porphyria, Erythropoietic, Congenital
Porphyria, Erythropoietic
Cutaneous Porphyria
Uros Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Porphyria, Congenital Erythropoietic, also known as congenital erythropoietic porphyria, is related to porphyria, acute intermittent and photoparoxysmal response 1. An important gene associated with Porphyria, Congenital Erythropoietic is UROS (Uroporphyrinogen III Synthase), and among its related pathways/superpathways are Metabolism and Hemesynthesis defects and porphyrias. The drugs Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin and bone marrow, and related phenotypes are abnormal blistering of the skin and fragile skin

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
7
60
84

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
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