Porphyria, Acute Intermittent (AIP)

Porphyria, Acute Intermittent(来自ICD-11)
别称:
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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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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MALACARDS
AD
Adolescent
<1/1000000
18
129
123

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