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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
Short stature due to partial GHR deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Short stature due to partial GHR deficiency

TYK2
(UniProt - OMIM)
 GHR
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TYK2
(0.73)
GHR


Citations in the biomedical literature:


Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
TYK2
Short stature due to partial GHR deficiency
GHR



Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Short stature due to partial GHR deficiency

Synonym(s):
- AR hyper-IgE syndrome due to TYK2 deficiency
- AR-HIES due to TYK2 deficiency
Synonym(s):
- Short stature due to partial growth hormone receptor deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.