Cytoscape Web
Click node...

Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe early-onset axonal neuropathy due to NEFL deficiency
1 associated gene
No signs/symptoms info
Pulverulent cataract
Severe early-onset axonal neuropathy due to NEFL deficiency

CRYBB1
(UniProt - OMIM)
 NEFL
(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)
VIM
(0.75)
NEFL


Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Severe early-onset axonal neuropathy due to NEFL deficiency
NEFL



Pulverulent cataract
Severe early-onset axonal neuropathy due to NEFL deficiency

Synonym(s):
- Dusty cataract
Synonym(s):
- Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
7 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.