congenital erythropoietic porphyria
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
porphyria |
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:Gunther_disease
|
| gptkbp:category |
inborn error of metabolism
|
| gptkbp:deficiencyCauses |
gptkb:uroporphyrinogen_III_synthase
|
| gptkbp:diagnosedBy |
urine porphyrin analysis
|
| gptkbp:firstDescribed |
gptkb:Hans_Gunther
1911 |
| gptkbp:hasOrphanetID |
ORPHA648
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital erythropoietic porphyria
|
| gptkbp:ICD-10_code |
E80.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:UROS_gene
|
| gptkbp:OMIM |
263700
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
gptkb:hypertrichosis
gptkb:anemia splenomegaly photosensitivity red urine blistering of skin erythrodontia |
| gptkbp:treatment |
blood transfusion
bone marrow transplantation sun avoidance |
| gptkbp:bfsParent |
gptkb:Porphyria
|
| gptkbp:bfsLayer |
7
|