Acute Porphyria

Alias:
Porphyrias, Hepatic
Acute Intermittent Porphyria
Hepatic Porphyria
Porphyria Hepatic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acute Porphyria, also known as porphyrias, hepatic, is related to porphyria and anemia, sideroblastic, 1, and has symptoms including abdominal pain, neuropathy and autonomic instability. An important gene associated with Acute Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Hemesynthesis defects and porphyrias. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are Reduced mammosphere formation and homeostasis/metabolism
Related ID:
MESH:D017094

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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29
222
33

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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