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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
5 associated genes
9 signs/symptoms
Pulverulent cataract
Cystic fibrosis

CRYBB1 CFTR
CRYGC CLCA4
GJA3 DCTN4
GJA8 STX1A
LIM2 TGFB1
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
VIM
(0.7)
(0.63)
CFTR
STX1A



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1



Pulverulent cataract
Cystic fibrosis

Synonym(s):
- Dusty cataract

Synonym(s):
- CF
- Mucoviscidosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare infertility
- Rare respiratory 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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D003550

Cystic fibrosis

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Repeat respiratory infections
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas

Occasional
- Hepatomegaly / liver enlargement (excluding storage disease)


Pulverulent cataract

(no data available)