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Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Combined immunodeficiency due to STK4 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pulverulent cataract
Combined immunodeficiency due to STK4 deficiency

CRYBB1
(UniProt - OMIM)
 STK4
(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
(0.63)
STK4


Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Combined immunodeficiency due to STK4 deficiency
STK4



Pulverulent cataract
Combined immunodeficiency due to STK4 deficiency

Synonym(s):
- Dusty cataract
Synonym(s):
- CID due to STK4 deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.