acute intermittent porphyria

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:disease porphyria
gptkbp:affects	gptkb:nervous_system gastrointestinal system
gptkbp:causedBy	mutation in HMBS gene
gptkbp:compatibleWith	gptkb:cutaneous_porphyria
gptkbp:complication	paralysis chronic kidney disease seizures hyponatremia hepatocellular carcinoma
gptkbp:enzymeDeficiency	porphobilinogen deaminase
gptkbp:firstDescribed	gptkb:Magnus_Blix 1889
gptkbp:frequency	1-2 per 100,000
gptkbp:hasBiomarker	elevated delta-aminolevulinic acid in urine elevated porphobilinogen in urine
gptkbp:hasDiagnosticMethod	urine delta-aminolevulinic acid urine porphobilinogen
gptkbp:hasOrphanetID	792
https://www.w3.org/2000/01/rdf-schema#label	acute intermittent porphyria
gptkbp:ICD-10_code	E80.21
gptkbp:inheritance	autosomal dominant
gptkbp:isAcute	true
gptkbp:isHereditary	true
gptkbp:MeSH_ID	D011169
gptkbp:OMIM	176000
gptkbp:onset	adolescence or adulthood
gptkbp:otherName	gptkb:Swedish_type_porphyria gptkb:AIP
gptkbp:prevalence	rare
gptkbp:sexPredilection	more common in females
gptkbp:symptom	vomiting abdominal pain hypertension tachycardia neurological symptoms psychiatric symptoms
gptkbp:treatment	gptkb:hemin pain management glucose
gptkbp:triggeredBy	gptkb:beer fasting drugs stress hormonal changes
gptkbp:bfsParent	gptkb:Porphyria gptkb:Muscle_Relaxants,_Central
gptkbp:bfsLayer	7