Porphyria, Acute Intermittent (AIP)

Alias:
Acute Intermittent Porphyria
Porphobilinogen Deaminase Deficiency
Pbgd Deficiency
Porphyria, Acute Intermittent, Nonerythroid Variant
Uroporphyrinogen Synthase Deficiency
Porphyria, Swedish Type
Ups Deficiency
Aip
Hydroxymethylbilane Synthase Deficiency
Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute
Porphyria Acute Intermittent
Pyrroloporphyria
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Porphyria, Acute Intermittent, also known as acute intermittent porphyria, is related to photoparoxysmal response 1 and toxic encephalopathy, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Porphyria, Acute Intermittent is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Hemesynthesis defects and porphyrias. The drugs Midazolam and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include liver and skin, and related phenotypes are abdominal pain and elevated urinary delta-aminolevulinic acid
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
18
129
123

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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