Cytoscape Web
Click node...

Recurrent infections associated with rare immunoglobulin isotypes deficiency
1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Constitutional mismatch repair deficiency syndrome
1 OMIM reference -
4 associated genes
No signs/symptoms info
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Constitutional mismatch repair deficiency syndrome

IGHG2
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
IGKC
(UniProt - OMIM)
 MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)
PMS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IGKC
(0.63)
MLH1


Citations in the biomedical literature:


Recurrent infections associated with rare immunoglobulin isotypes deficiency
IGHG2 IGKC
Constitutional mismatch repair deficiency syndrome
MLH1 MSH2 MSH6 PMS2



Recurrent infections associated with rare immunoglobulin isotypes deficiency
Constitutional mismatch repair deficiency syndrome

Synonym(s):
- IgG subclass deficiency with IgA subclass deficiency
- Isolated IgG subclass deficiency
- Kappa-chain deficiency
- Selective IgG subclass deficiency
Synonym(s):
- CMMR-D syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.