Immunodeficiency 35

Preferred Label : Immunodeficiency 35;

Symbol : IMD35;

CISMeF acronym : IMD35; TYK2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tyk2 deficiency; Hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive; Tyrosine kinase 2 deficiency; Hies with atypical mycobacteriosis, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosine kinase 2 gene (TYK2, 176941.0001);

Prefixed ID : #611521;

Details

Origin ID

611521;

UMLS CUI

C1969086;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
- TYK2 wt Allele [NCIt concept]
- immunodeficiency 35 [DO Concept]
Broader ORDO disease(s)
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive tyrosine kinase 2 deficiency [ICD-11 More detail]
- Hyperimmunoglobulin E syndrome due to TYK2 deficiency [ICD-11 More detail]
- Susceptibility to infection due to TYK2 deficiency [ORDO Disease]
- Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) [SNOMED CT concept]
- tyrosine kinase 2 deficiency [MeSH concept]
- tyrosine kinase 2 deficiency [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 35 [DO Concept]
Genes related to phenotype
- Tyrosine kinase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgE level [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent mycobacterial infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent viral infections [HPO term]
ORDO concept(s)
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
- Susceptibility to infection due to TYK2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive tyrosine kinase 2 deficiency [ICD-11 More detail]
- Susceptibility to infection due to TYK2 deficiency [ORDO Disease]
- Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) [SNOMED CT concept]
- tyrosine kinase 2 deficiency [MeSH Supplementary Concept]
- tyrosine kinase 2 deficiency [MeSH concept]

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