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Hepatoerythropoietic porphyria
1 OMIM reference -
1 associated gene
7 connected diseases
4 signs/symptoms
Disease Type of connection
Porphyria cutanea tarda
Giant cell glioblastoma
Gliosarcoma
Diaphyseal medullary stenosis - bone malignancy
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Pulverulent cataract
Synonym(s):
- HEP
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: D017121
Gene symbol UniProt reference OMIM reference
UROD P06132613521
Very frequent
- Autosomal dominant inheritance
- Hemolytic anemia
- Skin photosensitivity
- Thin skin