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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
7 associated genes
8 signs/symptoms
Pulverulent cataract
Congenital fiber-type disproportion myopathy

CRYBB1 ACTA1
CRYGC ITGA7
GJA3 MYL2
GJA8 PTPLA
LIM2 SEPN1
MAF TPM2
VIM TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.72)
ACTA1



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3



Pulverulent cataract
Congenital fiber-type disproportion myopathy

Synonym(s):
- Dusty cataract

Synonym(s):
- CFTDM

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Congenital fiber-type disproportion myopathy

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Hypotonia
- Myopathy

Frequent
- Pectus excavatum
- Repeat respiratory infections
- Scoliosis



Pulverulent cataract

(no data available)