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acute intermittent porphyria

Disease Summary
Associated Targets (5)
Tclin

2

Tchem

2

Tbio

1


GARD Rare
Mondo Description Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.
Uniprot Description A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
Mondo Term and Equivalent IDs
MONDO:0008294:  acute intermittent porphyria
GARD:0005732: 
MESH:D017118: 
NCIT:C84536: 
Orphanet:79276: 
SCTID:234422006: 
UMLS:C0162565: