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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
Fetal akinesia-cerebral and retinal hemorrhage syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Fetal akinesia-cerebral and retinal hemorrhage syndrome

TYK2
(UniProt - OMIM)
 DNM2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TYK2
(0.63)
DNM2


Citations in the biomedical literature:


Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
TYK2
Fetal akinesia-cerebral and retinal hemorrhage syndrome
DNM2



Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Fetal akinesia-cerebral and retinal hemorrhage syndrome

Synonym(s):
- AR hyper-IgE syndrome due to TYK2 deficiency
- AR-HIES due to TYK2 deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
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.