Statements (37)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
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
|
https://www.w3.org/2000/01/rdf-schema#label |
porphyria cutanea tarda
|
gptkbp:ICD-10_code |
E80.1
|
gptkbp:inheritance |
autosomal dominant
sporadic |
gptkbp:isMostCommonTypeOf |
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
|