Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
porphyria |
| gptkbp:affects |
heme biosynthesis
|
| gptkbp:causedBy |
mutation in CPOX gene
|
| gptkbp:diagnosedBy |
genetic testing
urine porphyrin analysis |
| gptkbp:enzymeDeficiency |
gptkb:coproporphyrinogen_oxidase
|
| gptkbp:firstDescribed |
1937
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA792
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary coproporphyria
|
| gptkbp:ICD-10_code |
E80.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
121300
|
| gptkbp:otherName |
gptkb:HCP
gptkb:coproporphyria_hereditaria |
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
abdominal pain
photosensitivity neurological symptoms |
| gptkbp:treatment |
avoidance of triggers
intravenous hemin |
| gptkbp:bfsParent |
gptkb:Porphyria
gptkb:coproporphyrinogen_III |
| gptkbp:bfsLayer |
7
|