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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Pulverulent cataract
Glycogen storage disease due to liver phosphorylase kinase deficiency

CRYBB1 PHKA2
CRYGC PHKG2
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.63)
PHKG2



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Glycogen storage disease due to liver phosphorylase kinase deficiency
PHKA2 PHKG2



Pulverulent cataract
Glycogen storage disease due to liver phosphorylase kinase deficiency

Synonym(s):
- Dusty cataract

Synonym(s):
- GSD due to liver phosphorylase kinase deficiency
- GSD type 9A
- GSD type 9C
- GSD type IXa
- GSD type IXc
- Glycogen storage disease type 9A
- Glycogen storage disease type 9C
- Glycogen storage disease type IXa
- Glycogen storage disease type IXc
- Glycogenosis due to liver phosphorylase kinase deficiency
- Glycogenosis type 9A
- Glycogenosis type 9C
- Glycogenosis type IXa
- Glycogenosis type IXc
- XLG

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
7 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.