Disorder "Congenital erythropoietic porphyria"
Found 3 records
Disorder information
Disorder name:
Congenital erythropoietic porphyria
Disoder ID:
OMIM entry:
Synonyms:
Günther disease, CEP
Definition:
Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
2
Effect type:
Expressivity(3)
Modifier effect:
Altered severity(3)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| UROS | UROS:rs117926090 | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Correlated with phenotype variabilitymore | more |
| SEC23B | SEC23B:rs146917730 | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Correlated with phenotype variabilitymore | more |
| ALAS2 | ALAS2:rs139596860 | Expressivity | Altered severity | Gene activity study | ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.more | more |
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