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Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
1 OMIM reference -
1 associated gene
23 connected diseases
No signs/symptoms info
Disease Type of connection
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Distal 22q11.2 microdeletion syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Laron syndrome
Short stature due to partial GHR deficiency
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Fetal akinesia-cerebral and retinal hemorrhage syndrome
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Autosomal agammaglobulinemia
SHORT syndrome
Synonym(s):
- AR hyper-IgE syndrome due to TYK2 deficiency
- AR-HIES due to TYK2 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TYK2 P29597176941
No signs/symptoms info available.