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13 OMIM references -
10 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Nuclear cataract
Congenital dyserythropoietic anemia type II

CRYAA SEC23B
CRYBB1
CRYBB2
CRYBB3
CRYGD
FYCO1
GJA3
MIP
NHS
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FYCO1
(0.72)
SEC23B



Citations in the biomedical literature:


Nuclear cataract
CRYAA CRYBB1 CRYBB2 CRYBB3 CRYGD FYCO1
GJA3 MIP NHS WFS1
Congenital dyserythropoietic anemia type II
SEC23B



Nuclear cataract
Congenital dyserythropoietic anemia type II

Synonym(s):
(no synonyms)

Synonym(s):
- CDA II
- CDA type 2
- CDA type II
- Congenital dyserythropoietic anemia type 2
- Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
- SEC23B-CDG

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic 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:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
13 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.