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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Congenital glaucoma

IGHG2 CYP1B1
IGKC LTBP2
MYOC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGKC
(0.63)
MYOC



Citations in the biomedical literature:


Recurrent infections associated with rare immunoglobulin isotypes deficiency
IGHG2 IGKC
Congenital glaucoma
CYP1B1 LTBP2 MYOC



Recurrent infections associated with rare immunoglobulin isotypes deficiency
Congenital glaucoma

Synonym(s):
- IgG subclass deficiency with IgA subclass deficiency
- Isolated IgG subclass deficiency
- Kappa-chain deficiency
- Selective IgG subclass deficiency

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.