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Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

TYK2
(UniProt - OMIM)
 CBL
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TYK2
(0.74)
CBL


Citations in the biomedical literature:


Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
TYK2
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL



Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Synonym(s):
- AR hyper-IgE syndrome due to TYK2 deficiency
- AR-HIES due to TYK2 deficiency
Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.