Porphyria, Acute Hepatic (AHEPP)

Alias:
Porphobilinogen Synthase Deficiency
Lead Poisoning
Delta-Aminolevulinate Dehydratase Deficiency
Acute Hepatic Porphyria
Alad Deficiency
Doss Porphyria
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency
Porphyria Due to Ala Dehydratase Deficiency
Lead Poisoning, Susceptibility to
Porphyria Due to Alad Deficiency
Lead Intoxication
Porphyria of Doss
Porphyria, Ala-D
Porphyria, Alad
Alad Porphyria
Porphyria Alad
Saturnism
Plumbism
Ahepp
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Porphyria, Acute Hepatic, also known as porphobilinogen synthase deficiency, is related to variegate porphyria and harderoporphyria, and has symptoms including vomiting and muscle weakness. An important gene associated with Porphyria, Acute Hepatic is ALAD (Aminolevulinate Dehydratase). The drugs Ethanol and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are abnormal circulating enzyme concentration or activity and constipation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Child
1-9/100000
1
6
23

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