erythropoietic protoporphyria
GPTKB entity
Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
porphyria |
| gptkbp:abbreviation |
gptkb:EPP
|
| gptkbp:affects |
gptkb:skin
liver |
| gptkbp:causedBy |
mutation in FECH gene
mutation in ALAS2 gene |
| gptkbp:causedByAccumulationOf |
gptkb:protoporphyrin_IX
|
| gptkbp:causedByDeficiencyOf |
gptkb:ferrochelatase
|
| gptkbp:complication |
gptkb:liver_disease
gallstones |
| gptkbp:discoveredBy |
gptkb:André_L._L._de_Gramont
|
| gptkbp:firstDescribed |
1961
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
erythropoietic protoporphyria
|
| gptkbp:inheritance |
autosomal recessive
X-linked (rare) |
| gptkbp:MeSH_ID |
D011902
|
| gptkbp:OMIM |
177000
|
| gptkbp:onset |
childhood
early adulthood |
| gptkbp:symptom |
itching
photosensitivity swelling erythema blistering (rare) skin pain |
| gptkbp:treatment |
gptkb:beta-carotene
gptkb:afamelanotide sun protection liver transplantation (in severe cases) |
| gptkbp:bfsParent |
gptkb:Porphyria
gptkb:afamelanotide gptkb:ferrochelatase |
| gptkbp:bfsLayer |
7
|