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Hepatoerythropoietic porphyria
1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
Hepatoerythropoietic porphyria
Pulverulent cataract

UROD
(UniProt - OMIM)
 CRYBB1
(UniProt - OMIM)
CRYGC
(UniProt - OMIM)
GJA3
(UniProt - OMIM)
GJA8
(UniProt - OMIM)
LIM2
(UniProt - OMIM)
MAF
(UniProt - OMIM)
VIM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
UROD
(0.63)
VIM


Citations in the biomedical literature:


Hepatoerythropoietic porphyria
UROD
Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM



Hepatoerythropoietic porphyria
Pulverulent cataract

Synonym(s):
- HEP
Synonym(s):
- Dusty cataract
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: D017121
External references:
7 OMIM references -
No MeSH references
Hepatoerythropoietic porphyria

Very frequent
- Autosomal dominant inheritance
- Hemolytic anemia
- Skin photosensitivity
- Thin skin



Pulverulent cataract

(no data available)