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Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Pulverulent cataract

DNM1L
(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)
DNM1L
(0.65)
VIM


Citations in the biomedical literature:


Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
DNM1L
Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM



Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Pulverulent cataract

Synonym(s):
(no synonyms)

Synonym(s):
- Dusty cataract
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references
No signs/symptoms info available.