Immunodeficiency 61

Preferred Label : Immunodeficiency 61;

Symbol : IMD61;

CISMeF acronym : AGMX2; XLA2; IMD61;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XLA2; AGMX2; Agammaglobulinemia, X-linked, type 2;

Description : For a phenotypic description of X-linked agammaglobulinemia, see AGMX1 (300755).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the SH3-domain kinase-binding protein 1 gene (SH3KBP1, 300374.0001);

Prefixed ID : #300310;

Details

Origin ID

300310;

UMLS CUI

C1845903;

Automatic exact mappings (from CISMeF team)
- Isolated agammaglobulinemia [ORDO Disease]
- immunodeficiency 61 [DO Concept]
Currated CISMeF NLP mapping
- Agammaglobulinemia, X-linked, type 2 [MeSH concept]
- agammaglobulinemia, X-linked, type 2 [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 61 [DO Concept]
Genes related to phenotype
- Sh3-domain kinase-binding protein 1 [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Arthritis [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Colon cancer [HPO term]
- Frequent Giardia lamblia infestation [HPO term]
- Increased risk of colorectal cancer [HPO term]
- Malabsorption [HPO term]
- Obesity [HPO term]
- Prone to bacterial infection, but not viral [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fever [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Variable expressivity [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Recurrent viral infections [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)
- Agammaglobulinemia, X-linked, type 2 [MeSH concept]
- agammaglobulinemia, X-linked, type 2 [MeSH Supplementary Concept]
- immunodeficiency 61 [DO Concept]
Validated automatic mappings to NTBT
- X-linked agammaglobulinemia [ORDO Disease]

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