Cytoscape Web
Click node...

Erythropoietic protoporphyria
2 OMIM references -
2 associated genes
6 connected diseases
9 signs/symptoms
Disease Type of connection
X-linked sideroblastic anemia
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
X-linked sideroblastic anemia - ataxia
Dedifferentiated liposarcoma
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
Synonym(s):
- EPP
- XLDPP
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: D046351
Gene symbol UniProt reference OMIM reference
ALAS2 P22557301300
FECH P22830612386
Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Skin photosensitivity
- Urticaria

Occasional
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Cirrhosis
- Cutaneous edema
- Eczema
- Microcytic anemia