Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:porphyria |
| gptkbp:affects |
gptkb:skin
liver |
| gptkbp:alsoKnownAs |
gptkb:PCT
gptkb:cutaneous_hepatic_porphyria |
| gptkbp:causedBy |
uroporphyrinogen decarboxylase deficiency
|
| gptkbp:hasDiagnosticMethod |
genetic testing
plasma porphyrin test urine porphyrin test |
| gptkbp:hasOrphanetID |
792
|
| gptkbp:ICD-10_code |
E80.1
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:isMostCommonTypeOf |
gptkb:porphyria
|
| gptkbp:namedAfter |
gptkb:Gunther
|
| gptkbp:OMIM |
176100
|
| gptkbp:onset |
adulthood
|
| gptkbp:riskFactor |
alcohol consumption
smoking HIV infection iron overload hereditary hemochromatosis estrogen use hepatitis C infection |
| gptkbp:symptom |
gptkb:hypertrichosis
photosensitivity fragile skin hyperpigmentation blistering of skin |
| gptkbp:treatment |
phlebotomy
avoidance of triggers low-dose hydroxychloroquine |
| gptkbp:bfsParent |
gptkb:Porphyria
gptkb:Wood's_lamp |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
porphyria cutanea tarda
|