Erythropoietic protoporphyria
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
porphyria |
| gptkbp:affects |
gptkb:skin
liver |
| gptkbp:causedBy |
mutation in ALAS2 gene (rare)
mutation in FECH gene |
| gptkbp:complication |
gptkb:liver_disease
gallstones |
| gptkbp:discoveredIn |
1961
|
| gptkbp:frequency |
rare
|
| gptkbp:hasBiomarker |
elevated protoporphyrin in erythrocytes
|
| https://www.w3.org/2000/01/rdf-schema#label |
Erythropoietic protoporphyria
|
| gptkbp:inheritance |
autosomal recessive
X-linked (rare) |
| gptkbp:MeSH_ID |
D011676
|
| gptkbp:namedAfter |
gptkb:protoporphyrin
erythropoiesis |
| gptkbp:OMIM |
177000
|
| gptkbp:onset |
childhood
early adulthood |
| gptkbp:symptom |
itching
photosensitivity redness swelling blistering (rare) skin pain |
| gptkbp:treatment |
gptkb:beta-carotene
gptkb:afamelanotide sun protection liver transplantation (severe cases) |
| gptkbp:bfsParent |
gptkb:ESP
|
| gptkbp:bfsLayer |
5
|