Mhc class I deficiency 1

Preferred Label : Mhc class I deficiency 1;

Symbol : MHC1D1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hla class I deficiency, 1; Bls, type I; Bare lymphocyte syndrome, type I;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transporter, ATP-binding cassette, major histocompatibility complex, 2 gene (TAP2, 170261.0004);

Laboratory abnormalities : Normal CD8 /CD4 ratio;

Prefixed ID : #604571;

Details

Origin ID

604571;

UMLS CUI

C1858266;

Currated CISMeF NLP mapping
- Bare Lymphocyte Syndrome Type 1 [NCIt concept]
- Immunodeficiency by defective expression of MHC class I [ORDO Disease]
- MHC class I deficiency [DO Concept]
- bare lymphocyte syndrome, type I [MeSH concept]
- bare lymphocyte syndrome, type I [MeSH Supplementary Concept]
- bare lymphocyte syndromes type 1 [Disease (Nov.)]
DO Cross reference
- MHC class I deficiency [DO Concept]
Genes related to phenotype
- Transporter, atp-binding cassette, major histocompatibility complex, 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Bronchiolitis [HPO term]
- Chronic otitis media [HPO term]
- Chronic sinusitis [HPO term]
- Ectopia lentis [HPO term]
- Emphysema [HPO term]
- Nasal polyposis [HPO term]
- Nasal polyps [HPO term]
- Recurrent bronchitis [HPO term]
- Skin ulcer [HPO term]
ORDO concept(s)
- Immunodeficiency by defective expression of MHC class I [ORDO Disease]
See also inter- (CISMeF)
- Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bare Lymphocyte Syndrome Type 1 [NCIt concept]
- Immunodeficiency by defective expression of MHC class I [ORDO Disease]
- Immunodeficiency by defective expression of human leukocyte antigen class 1 (disorder) [SNOMED CT concept]
- bare lymphocyte syndrome, type I [MeSH Supplementary Concept]
- bare lymphocyte syndrome, type I [MeSH concept]
- bare lymphocyte syndromes type 1 [Disease (Nov.)]

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