Agammaglobulinemia, X-linked

Preferred Label : Agammaglobulinemia, X-linked;

Symbol : XLA;

CISMeF acronym : AGMX1; IMD1; XLA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bruton-type agammaglobulinemia; Agammaglobulinemia, X-linked, type 1; Immunodeficiency 1; AGMX1; IMD1;

Included titles and symbols : Hypogammaglobulinemia, X-linked;

Description : X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see 300310. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1; 601495) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Bruton agammaglobulinemia tyrosine kinase gene (BTK, 300300.0001);

Neoplasia : Increased incidence of rectosigmoid cancer;

Laboratory abnormalities : Absent or severely reduced levels of serum immunoglobulins;

Prefixed ID : #300755;

Details

Origin ID

300755;

UMLS CUI

C0221026;

Automatic exact mappings (from CISMeF team)
- BTK wt Allele [NCIt concept]
- Bruton tyrosine kinase [ORDO Gene]
- Bruton tyrosine kinase [HGNC gene]
- Isolated agammaglobulinemia [ORDO Disease]
- X-linked hypogammaglobulinemia (disorder) [SNOMED CT concept]
- agammaglobulinemia [MeSH Descriptor]
- hypogammaglobulinemia, X-Linked [MeSH Supplementary Concept]
- hypogammaglobulinemia, X-Linked [MeSH concept]
Currated CISMeF NLP mapping
- Bruton type agammaglobulinemia [MeSH concept]
- Bruton's agammaglobulinaemia [MedDRA Preferred Term]
- Bruton's agammaglobulinemia [MedDRA LLT]
- Bruton's agammaglobulinemia [PASCAL descriptor]
- X-Linked Agammaglobulinemia [NCIt concept]
- X-linked agammaglobulinaemia [ICD-11 More detail]
- X-linked agammaglobulinemia [DO Concept]
- X-linked agammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia (disorder) [SNOMED CT concept]
- bruton type agammaglobulinemia [MeSH Supplementary Concept]
- x linked agammaglobulinemia [Disease (Nov.)]
- x-linked agammaglobulinemia [SNOMED Notion]
DO Cross reference
- X-linked agammaglobulinemia [DO Concept]
Genes related to phenotype
- Bruton agammaglobulinemia tyrosine kinase [OMIM gene]
HPO term(s)
- Absent or severely reduced levels of serum immunoglobulins [HPO term]
- Agammaglobulinemia [HPO term]
- Anemia [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Bronchiolitis obliterans [HPO term]
- Childhood onset [HPO term]
- Chronic diarrhea [HPO term]
- Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine [HPO term]
- Conjunctivitis [HPO term]
- Cor pulmonale [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgE [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Delayed speech and language development [HPO term]
- Enteroviral dermatomyositis syndrome [HPO term]
- Enteroviral hepatitis [HPO term]
- Epididymitis [HPO term]
- Hearing impairment [HPO term]
- Hepatocellular carcinoma [HPO term]
- Infantile onset [HPO term]
- Infectious encephalitis [HPO term]
- Juvenile onset [HPO term]
- Lymph node hypoplasia [HPO term]
- Meningitis [HPO term]
- Neonatal onset [HPO term]
- Neutropenia [HPO term]
- Prostatitis [HPO term]
- Pyoderma [HPO term]
- Recurrent infections [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent urinary tract infections [HPO term]
- Sepsis [HPO term]
- Septic arthritis [HPO term]
- Susceptibility to infection [HPO term]
- T lymphocytopenia [HPO term]
- Urinary tract infections [HPO term]
- Wheezing [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Isolated agammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bruton type agammaglobulinemia [MeSH concept]
- Bruton's agammaglobulinaemia [MedDRA Preferred Term]
- Bruton's agammaglobulinemia [MedDRA LLT]
- Bruton's agammaglobulinemia [PASCAL descriptor]
- Congenital agammaglobulinaemia [MedDRA LLT]
- Congenital agammaglobulinemia [MedDRA LLT]
- Congenital agammaglobulinemia (disorder) [SNOMED CT concept]
- X-Linked Agammaglobulinemia [NCIt concept]
- X-linked agammaglobulinaemia [ICD-11 More detail]
- X-linked agammaglobulinaemia [MedDRA LLT]
- X-linked agammaglobulinemia [ORDO Disease]
- X-linked agammaglobulinemia [DO Concept]
- X-linked agammaglobulinemia [MedDRA LLT]
- X-linked agammaglobulinemia (disorder) [SNOMED CT concept]
- bruton type agammaglobulinemia [MeSH Supplementary Concept]
- congenital agammaglobulinemia [Radlex concept]
- x linked agammaglobulinemia [Disease (Nov.)]
- x-linked agammaglobulinemia [SNOMED Notion]

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