X-linked agammaglobulinemia Disease Ontology Browser

Disease Ontology Browser

X-linked agammaglobulinemia (DOID:14179)
Alliance: disease page
Synonyms: Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton disease; Bruton's agammaglobulinaemia; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; Bruton-type agammaglobulinemia; BTK deficiency
Alt IDs: OMIM:300755, MESH:C537409, NCI:C3822, ORDO:47, UMLS_CUI:C0221026
Definition: An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

Disease References using Mouse Models (8)

Allelic Composition	Genetic Background	Reference	Phenotypes
\Btktm1Wk/\Btktm1Wk	involves: 129S4/SvJae * C57BL/6	J:28968	View
\Btktm1Gsv/Y	involves: 129P2/OlaHsd * C57BL/6	J:35769	View
\Btktm1Wk/\Btktm1Wk \Tectm1Welm/\Tectm1Welm	involves: 129P2/OlaHsd * C57BL/6	J:66080	View
\Btkxid/\Btkxid	CBA/HN-Btk^xid	J:81429	View
\Blnktm1Pjln/\Blnktm1Pjln \Btktm1Wk/\Btktm1Wk	involves: 129S4/SvJae * BALB/c * C57BL/6	J:70406	View
\Btkxid/\Btkxid	involves: CBA/HN * DBA/2N	J:81429	View
\Btkxid/Y	CBA/HN-Btk^xid	J:81429	View
\Btkxid/Y	involves: CBA/HN * DBA/2N	J:81429	View

Allelic Composition	Genetic Background	Reference	Phenotypes
\Pik3r1tm1Tka/\Pik3r1tm1Tka	involves: C57BL/6 * CBA	J:52228	View
\Pik3r1tm1Dfr/\Pik3r1tm1Dfr	involves: 129S6/SvEvTac * C57BL/6	J:52229, J:65523	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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