Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
porphyria |
| gptkbp:causedBy |
mutation in PPOX gene
|
| gptkbp:enzymeDeficiency |
gptkb:protoporphyrinogen_oxidase
|
| gptkbp:firstDescribed |
1937
|
| https://www.w3.org/2000/01/rdf-schema#label |
variegate porphyria
|
| gptkbp:ICD-10_code |
E80.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
176200
|
| gptkbp:otherName |
gptkb:VP
|
| gptkbp:prevalence |
most common in South Africa
|
| gptkbp:riskFactor |
gptkb:beer
fasting stress certain drugs hormonal changes |
| gptkbp:symptom |
abdominal pain
muscle weakness photosensitivity blistering skin lesions neuropsychiatric symptoms |
| gptkbp:treatment |
symptomatic management
avoidance of triggers intravenous hemin |
| gptkbp:bfsParent |
gptkb:Porphyria
|
| gptkbp:bfsLayer |
7
|