Immunodeficiency 27a

Preferred Label : Immunodeficiency 27a;

Symbol : IMD27A;

CISMeF acronym : IMD27A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 27a, mycobacteriosis, autosomal recessive; Ifngr1 deficiency, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interferon-gamma receptor 1 gene (IFNGR1, 107470.0001);

Prefixed ID : #209950;

Details

Origin ID

209950;

UMLS CUI

C4011949;

Automatic exact mappings (from CISMeF team)
- Disseminated atypical mycobacterial infection (disorder) [SNOMED CT concept]
- IFNGR1 wt Allele [NCIt concept]
- Mendelian susceptibility to mycobacterial diseases [ORDO Disease]
- immunodeficiency 27A [DO Concept]
- mycobacterium infections, nontuberculous [MeSH Descriptor]
Currated CISMeF NLP mapping
- Immunodeficiency 27A [NCIt concept]
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) [SNOMED CT concept]
- atypical mycobacteriosis, familial [MeSH concept]
- interferon gamma, receptor 1, deficiency [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 27A [DO Concept]
Genes related to phenotype
- Interferon-gamma receptor 1 [OMIM gene]
HPO term(s)
- Abnormal bronchus physiology [HPO term]
- Anemia [HPO term]
- Anorexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Enlarged mesenteric lymph node [HPO term]
- Fever [HPO term]
- Hepatosplenomegaly [HPO term]
- Histiocytosis [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoplasia of the femoral head [HPO term]
- Increased circulating IgG level [HPO term]
- Increased circulating IgM level [HPO term]
- Increased inflammatory response [HPO term]
- Leukocytosis [HPO term]
- Lymphadenopathy [HPO term]
- Night sweats [HPO term]
- Pneumonia [HPO term]
- Pulmonary infiltrates [HPO term]
- Rheumatoid factor positive [HPO term]
- Salmonella osteomyelitis [HPO term]
- Splenomegaly [HPO term]
- Thrombocytosis [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [ORDO Disease]
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 27A [NCIt concept]
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) [SNOMED CT concept]
- interferon gamma, receptor 1, deficiency [MeSH Supplementary Concept]

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