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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
Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Colobomatous microphthalmia

DNM1L
(UniProt - OMIM)
 ABCB6
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DNM1L
(0.63)
SOX2


Citations in the biomedical literature:


Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
DNM1L
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2



Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Colobomatous microphthalmia

Synonym(s):
(no synonyms)

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
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:
9 OMIM references -
No MeSH references
No signs/symptoms info available.