Disease #01671 (AT (ataxia-telangiectasia (AT)), OMIM:208900)

Official abbreviation AT
Name ataxia-telangiectasia (AT)
OMIM ID 208900
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 908
Phenotype entries for this disease 167
Associated with 1 gene ATM
Associated tissues -
Disease features autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, predisposition to malignancy, chromosomal breakag; AT cells are abnormally sensitive to killing by ionizing radiation (IR), abnormally resistant to inhibition of DNA synthesis by ionizing radiation
Remarks -


Individuals

908 entries on 10 pages. Showing entries 1 - 100.
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00073133 - ATX286 - M - France - - 0 - - AT - ATM ATM 2 1 Claire Guissart
00104957 - - 2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents F yes Russian Federation white - 0 - - AT HP:0001260 Dysarthria;HP:0005407 Decreased number of CD4+ T cells;HP:0002837 Recurrent bronchitis; HP:0006254 Elevated alpha-fetoprotein;HP:0001251 Ataxia;HP:0000524 Conjunctival telangiectasia;HP:0008348 Immunoglobulin IgG2 deficiency ATM ATM 1 1 Jekaterina Shubina
00104958 - - 2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents M yes Russian Federation white - 0 - - AT HP:0008348 Immunoglobulin IgG2 deficiency; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0005407 Decreased number of CD4+ T cells ATM ATM 1 1 Jekaterina Shubina
00104982 - - 2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Child with ataxia-telangiectasia. F yes Russian Federation white - 0 - - AT HP:0008348 Immunoglobulin IgG2 deficiency;HP:0000524 Conjunctival telangiectasia; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0002837 Recurrent bronchitis; HP:0005407 Decreased number of CD4+ T cells ATM ATM 1 1 Jekaterina Shubina
00109566 - PubMed: Gilad 1996b - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109567 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109568 - PubMed: Byrd 1996; PubMed: Stankovic 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109569 - PubMed: Gilad 1996b Initiation codon changed to Thr - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109570 - PubMed: Buzin 2003 Initiation codon changed to Thr - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109571 - PubMed: Teraoka 1999; PubMed: Buzin 2003 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109572 - PubMed: Buzin 2003 Initiation codon changed to Ile - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109573 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109574 - - - M ? Pakistan - - 0 - - AT - ATM ATM 1 1 Monica Martinez-Gallo
00109575 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109576 - PubMed: Mitui 2003 - - - - Iberian - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109577 - PubMed: Teraoka 1999; PubMed: Becker-Catania 2000 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109578 - PubMed: Gilad 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109579 - PubMed: Gilad 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109580 - PubMed: Gilad 1996a - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109581 - PubMed: Mitui 2003 - - - - Iberian - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109582 - PubMed: Jeddane 2013 - - ? Morocco - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109583 - PubMed: Magliozzi 2006 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109584 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109585 - PubMed: Castellvi-Bel 1999 - - - - North-American - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109586 - PubMed: Becker-Catania 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109587 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109588 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109589 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109590 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109591 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109592 - PubMed: Cavalieri 2006 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109593 - - - - - - - - 0 - - AT - ATM ATM 2 1 Kotoka Nakamura
00109594 - PubMed: Verhagen 2011 - - - Netherlands - - 0 - - AT - ATM ATM 2 1 Frans BL Hogervorst
00109595 - - - - - Netherlands - - 0 - - AT - ATM ATM 1 1 Frans BL Hogervorst
00109596 - PubMed: Laake 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109597 - PubMed: Birrell 2005 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109598 - PubMed: Demuth 2011 - - - - Russian - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109599 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109600 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109601 - PubMed: Angele 2003 - - - - - - 0 - - AT - ATM ATM 4 1 Patrick Concannon
00109602 - PubMed: Teraoka 1999; PubMed: Mitui 2005 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109603 - PubMed: Mitui 2005 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109604 - PubMed: Babaei 2005 - - - Iran - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109605 - PubMed: Babaei 2005 - - - Iran - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109606 - PubMed: Mitui 2005 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109607 - PubMed: Castellvi-Bel 1999 - - - Poland - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109608 - PubMed: Podralska 2014 - M ? (Poland) - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109609 - - - - - Japan Japanese - 0 - - AT - ATM ATM 2 1 Kotoka Nakamura
00109610 - PubMed: Telatar 1998 - - - Poland - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109611 - PubMed: Teraoka 1999; PubMed: Mitui 2005 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109612 - PubMed: Podralska 2014 - M ? Poland - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109613 - PubMed: Gilad 1996b; PubMed: Magliozzi 2006 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109614 - PubMed: Izatt 1999 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109615 - PubMed: Ejima and Sasaki 1998 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109616 - - - - - Netherlands - - 0 - - AT - ATM ATM 1 1 Frans BL Hogervorst
00109617 - PubMed: Laake 2000 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109618 ? / AT35 PubMed: Dork 2004, PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - 0 - - AT slow disease progression; 7y-ataxia; 45y-wheelchair; dystonia, dysarthria, abnormal movements, ccular telangiectasia; 60y-no cancer ATM ATM 2 1 Patrick Concannon
00109619 - - - - - Netherlands - - 0 - - AT - ATM ATM 1 1 Frans BL Hogervorst
00109620 - PubMed: Gilad 1996b - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109621 - PubMed: Byrd 1996 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109622 - PubMed: Babaei 2005 - - - Iran - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109623 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109624 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM - 0 1 Patrick Concannon
00109625 - PubMed: Jiang 2006 - - - China - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109626 - PubMed: Coutinho 2004 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109627 - PubMed: Mitui 2003 - - - Spain - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109628 - PubMed: Demuth 2011 - M - Portugal - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109629 - PubMed: Carranza 2016 - M ? Spain - - 0 - - AT - ATM ATM 2 2 Ignacio J. Molina
00109630 - PubMed: Carranza 2016 - - ? Spain - - 0 - - AT - ATM ATM 2 1 Ignacio J. Molina
00109631 - PubMed: Laake 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109632 - PubMed: Castellvi-Bel 1999 - - - Turkey - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109633 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109634 - PubMed: Magliozzi 2006 compound heterozygote, second allele not detected by DHPLC - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109635 - PubMed: Mitui 2003 - - - Spain - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109636 - PubMed: Cavalieri 2006 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109637 - PubMed: Magliozzi 2006 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109638 - - - - - Netherlands - - 0 - - AT - ATM ATM 1 1 Frans BL Hogervorst
00109639 - - - - - - - - 0 - - AT - ATM ATM 1 1 Frans BL Hogervorst
00109640 - PubMed: Broeks 1998 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109641 - PubMed: Teraoka 1999; PubMed: Buzin 2003 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109642 - PubMed: Gilad 1996b - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109643 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109644 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109645 - PubMed: Mitui 2003 - - - - Iberian - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109646 - PubMed: Buzin 2003 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109647 - PubMed: Verhagen 2011 - M - Netherlands - - 0 - - AT - ATM ATM 2 1 Frans BL Hogervorst
00109648 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109649 - PubMed: Teraoka 1999 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109650 - PubMed: Carranza 2016 - - ? Spain - - 0 - - AT - ATM ATM 2 1 Ignacio J. Molina
00109651 - PubMed: Carranza 2016 - - ? Spain - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109652 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109653 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109654 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109655 - PubMed: Becker-Catania 2000 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109656 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109657 - PubMed: Coutinho 2005 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109658 - PubMed: Mitui 2003 - - - - Iberian - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109659 - PubMed: Laake 2000 - - - - - - 0 - - AT - ATM ATM 2 1 Patrick Concannon
00109660 - PubMed: Laake 2000 - - - - - - 0 - - AT - ATM ATM 1 1 Patrick Concannon
00109661 - PubMed: Nakamura 2011 - - - Japan Japanese - 0 - - AT - ATM ATM 2 1 Kotoka Nakamura
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