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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked agammaglobulinemia
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Accession:DOID:14179 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1;   AGMX1;   Agammaglobulinemia, BTK;   Agammaglobulinemia, X-Linked, Type I;   BTK deficiency;   Bruton agammaglobulinemia tyrosine kinase deficiency;   Bruton's Agammaglobulinemia;   Bruton's agammaglobulinaemia;   Bruton's sex-linked agammaglobulinemia;   Bruton's type agammaglobulinemia;   Bruton-type (congenital X-linked) agammaglobulinemia;   Bruton-type agammaglobulinemia;   IMD1;   XLA;   agammaglobulinemia, Bruton tyrosine kinase;   congenital agammaglobulinemia;   immunodeficiency 1
 narrow_synonym: X-linked hypoagammaglobulinemia;   X-linked hypogammaglobulinemia
 primary_id: MESH:C537409
 alt_id: OMIM:300755
 xref: NCI:C3822;   ORDO:47
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked agammaglobulinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by OMIM:300755
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Hypoagammaglobulinemia, X-linked
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
ClinVar Annotator: match by term: X-linked agammaglobulinemia
OMIM
ClinVar
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8380905 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10678660 PMID:10737994 PMID:10859027 PMID:10887125 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11564824 PMID:11586956 PMID:11668622 PMID:11742281 PMID:11809909 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15661032 PMID:16160918 PMID:16712653 PMID:16751014 PMID:16862044 PMID:16951917 PMID:17045652 PMID:17164954 PMID:17327079 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:21397315 PMID:24001798 PMID:24033266 PMID:24820629 PMID:24885015 PMID:25741868 PMID:26915675 PMID:27512878 PMID:27577878 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 PMID:30627929, PMID:15024743, PMID:12655572 RGD:11040588, RGD:11040698 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia X-linked type 2 OMIM
ClinVar
PMID:29636373 NCBI chr  X:37,790,004...38,196,365
Ensembl chr  X:37,790,586...38,196,204
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      primary immunodeficiency disease 2376
        lymphoproliferative syndrome 682
          agammaglobulinemia 63
            X-linked agammaglobulinemia 3
              immunodeficiency 61 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Immune & Inflammatory Diseases 3588
        immune system disease 2957
          Immunoproliferative Disorders 691
            lymphoproliferative syndrome 682
              agammaglobulinemia 63
                X-linked agammaglobulinemia 3
                  immunodeficiency 61 1
paths to the root