Acute intermittent porphyria
GPTKB entity
Statements (42)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
porphyria |
| gptkbp:affects |
gptkb:nervous_system
gastrointestinal system |
| gptkbp:alsoKnownAs |
gptkb:AIP
|
| gptkbp:causedBy |
mutation in HMBS gene
|
| gptkbp:complication |
liver cancer
chronic kidney disease seizures |
| gptkbp:firstDescribed |
1930s
|
| gptkbp:frequency |
1-2 per 100,000 people
|
| gptkbp:gender |
more common in females
|
| gptkbp:hasBiomarker |
elevated delta-aminolevulinic acid in urine
elevated porphobilinogen in urine |
| gptkbp:hasDiagnosticMethod |
urine delta-aminolevulinic acid
urine porphobilinogen |
| gptkbp:hasEnzymeDeficiency |
porphobilinogen deaminase
|
| https://www.w3.org/2000/01/rdf-schema#label |
Acute intermittent porphyria
|
| gptkbp:ICD-10_code |
E80.21
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
porphyrins
|
| gptkbp:OMIM |
176000
|
| gptkbp:onset |
adolescence or adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
vomiting
abdominal pain constipation hypertension muscle weakness tachycardia psychiatric symptoms |
| gptkbp:treatment |
intravenous hemin
glucose infusion |
| gptkbp:triggeredBy |
gptkb:beer
fasting stress certain drugs hormonal changes |
| gptkbp:bfsParent |
gptkb:ORPHA:110
gptkb:ORPHA:282 |
| gptkbp:bfsLayer |
7
|