Agammaglobulinemia 1, autosomal recessive

Preferred Label : Agammaglobulinemia 1, autosomal recessive;

Symbol : AGM1;

CISMeF acronym : AGM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal recessive, due to ighm defect;

Description : Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by mutation in the BTK gene (300300). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia. - Genetic Heterogeneity of Autosomal Agammaglobulinemia Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 (613500), caused by mutation in the IGLL1 gene (146770); AGM3 (613501), caused by mutation in the CD79A gene (112205); AGM4 (613502), caused by mutation in the BLNK gene (604515); AGM5 (613506), caused by disruption of the LRRC8 gene (608360); AGM6 (612692), caused by mutation in the CD79B gene (147245); and AGM7 (615214), caused by mutation in the PIK3R1 gene (171833).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin mu gene (IGHM, 147020.0001);

Laboratory abnormalities : Neutropenia;

Prefixed ID : #601495;

Details

Origin ID

601495;

UMLS CUI

C3152144;

Automatic exact mappings (from CISMeF team)
- IGHM wt Allele [NCIt concept]
- Isolated agammaglobulinemia [ORDO Disease]
- PGM3 wt Allele [NCIt concept]
- phosphoglucomutase 3 [ORDO Gene]
- phosphoglucomutase 3 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal agammaglobulinemia [ORDO Disease]
- Autosomal recessive agammaglobulinaemia [ICD-11 More detail]
- agammaglobulinemia, non-Bruton type [MeSH Supplementary Concept]
DO Cross reference
- agammaglobulinemia [DO Concept]
Genes related to phenotype
- Immunoglobulin heavy chain constant region mu [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic diarrhea [HPO term]
- Conjunctivitis [HPO term]
- Decreased circulating antibody level [HPO term]
- Failure to thrive [HPO term]
- Infantile onset [HPO term]
- Neutropenia [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Rectal abscess [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent enteroviral infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
ORDO concept(s)
- Autosomal agammaglobulinemia [ORDO Disease]
- Isolated agammaglobulinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal Recessive Agammaglobulinemia [NCIt concept]

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