AT
MCID: ATX002
MIFTS: 93

Ataxia Telangiectasia (AT) malady

Neuronal diseases, Eye diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases categories

Summaries for Ataxia Telangiectasia

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NINDS:43 Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays.

MalaCards: Ataxia Telangiectasia, also known as ataxia-telangiectasia, is related to breast cancer and nijmegen breakage syndrome, and has symptoms including t-cell deficiency/cellular immunity deficiency, lymphopenia and chromosome breakage. An important gene associated with Ataxia Telangiectasia is ATM (ataxia telangiectasia mutated), and among its related pathways are DNA Damage and p53 signaling pathway. The compounds serine and camptothecin have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related mouse phenotypes are mortality/aging and tumorigenesis.

Genetics Home Reference:21 Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.

NIH Rare Diseases:42 Ataxia telangiectasia (a-t) is an inherited childhood disorder that causes degeneration in the part of the brain that controls motor movements and speech. the condition is characterized by neurological signs, telangiectasias, susceptibility to infections and an increased risk of cancer. mutations in the atm gene cause ataxia-telangiectasia. the condition is inherited in an autosomal recessive pattern. there is no cure for a-t and, currently, no way to slow the progression of the disease. treatment is symptomatic and supportive. last updated: 5/25/2011

MedlinePlus:33 Ataxia-telangiectasia (at) is a rare, inherited disease. it affects the nervous system, immune system, and other body systems. symptoms appear in young children, usually before age 5. they include ataxia - trouble coordinating movements poor balance slurred speech tiny, red spider veins, called telangiectasias, on the skin and eyes lung infections delayed physical and sexual development people with at have an increased risk of developing diabetes and cancers, particularly lymphoma and leukemia. although it affects the brain, people with at usually have normal or above normal intelligence. at has no cure. treatments might improve some symptoms. they include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamin therapy. nih: national institute of neurological disorders and stroke

Wikipedia:63 Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative,... more...

Description from OMIM:46 208900,208910

GeneReviews summary for ataxia-telangiectas

Aliases & Classifications for Ataxia Telangiectasia

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 9diseasecard, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
ataxia-telangiectasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

ataxia telangiectasia 8 63 42 43 10 44 33 30 60
ataxia-telangiectasia 9 19 20 22 21 46 48
louis-bar syndrome 63 19 42 21 48
telangiectasia, cerebello-oculocutaneous 63 21
a-t 63 21
immunodeficiency with ataxia telangiectasia 42
cerebello-oculocutaneous telangiectasia 42
ataxia telangiectasia syndrome 21
odontoma dysphagia syndrome 60
boder-sedgwick syndrome 8
louis bar syndrome 8
atm 21
at 42


External Ids:

Disease Ontology8 DOID:12704
NCIt39 C2887
MeSH34 D001260
SNOMED-CT56 68504005
MESH via Orphanet35 D001260
ICD10 via Orphanet26 G11.3
SNOMED-CT via Orphanet57 68504005
UMLS via Orphanet61 C0004135

Related Diseases for Ataxia Telangiectasia

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Ataxia Telangiectasia family:

Ataxia Telangiectasia Variant V1 Ataxia-Telangiectasia Variant

Diseases related to Ataxia Telangiectasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 3060)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.0CHEK2, ATM
2nijmegen breakage syndrome31.0MRE11A, ATR, ATM, CHEK2, NBN
3leukemia30.9GADD45A, TOP2B, TOP2A, ATM, MTCP1, CHEK2
4early-onset ataxia with oculomotor apraxia and hypoalbuminemia30.6NBN, MRE11A
5lung cancer30.6CHEK2, ATM, TOP2A, GADD45A
6bloom syndrome30.4ATM
7xeroderma pigmentosum30.4GADD45A
8colon cancer30.4CHEK1, CHEK2, TOP2B, GADD45A
9fanconi's anemia30.3NBN, CHEK1, ATM, MRE11A
10werner syndrome30.3NBN, ATM, MRE11A
11adenocarcinoma30.3CHEK2, TOP2A, GADD45A, MRE11A
12non-hodgkin lymphoma30.3TOP2A, ATM, TCL1A, NBN
13pancreatic cancer30.3GADD45A, TOP2A, ATM
14meningioma30.2TOP2A
15prolymphocytic leukemia30.2ATM, MTCP1, TCL1A
16melanoma30.2GADD45A, TOP2A, ATM, CHEK2, CHEK1, NBN
17microcephaly30.0NBN, ATM, ATR, MRE11A
18ovarian cancer30.0GADD45A, TOP2A, ATR, ATM, CHEK2, NBN
19colorectal cancer30.0MRE11A, TOP2A, ATM, CHEK2, CHEK1, NBN
20seckel syndrome30.0CHEK1, ATM, ATR
21li-fraumeni syndrome30.0ATM, CHEK2
22stomach cancer30.0TOP2A, ATR, CHEK2, CHEK1
23hodgkin's lymphoma30.0TOP2A, ATM, TCL1A
24b-cell lymphomas29.9ATM, TRG, TCL1A, NBN
25prostate cancer29.8SERPINA2P, TRG, CHEK2, ATM, TOP2A, GADD45A
26burkitt's lymphoma29.6GADD45A, ATM, CHEK2, TRG, TCL1A, NBN
27ulnar neuropathy10.6
28odontoma dysphagia syndrome10.5
29ataxia10.5
30acute leukemia10.4
31neuroblastoma10.4
32neuronitis10.4
33cerebellar ataxia10.4
34eclampsia10.4
35influenza10.4
36lymphoblastic leukemia10.3
37squamous cell carcinoma10.3
38pre-eclampsia10.3
39acute myocardial infarction10.3
40dementia10.3
41hyperlipidemia type 310.3
42tetanus10.3
43syphilis10.3
44t-cell leukemia10.3
45type 1 diabetes mellitus10.3
46prion disease10.3
47diabetic ketoacidosis10.3
48meningitis10.3
49type 2 diabetes mellitus10.3
50sarcoma10.3

Graphical network of the top 20 diseases related to Ataxia Telangiectasia:



Diseases related to ataxia telangiectasia

Clinical Features for Ataxia Telangiectasia

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

208900,208910

Clinical synopsis from OMIM:

208900

Symptoms:

48 (show all 39)
  • t-cell deficiency/cellular immunity deficiency
  • lymphopenia
  • chromosome breakage
  • premature ageing
  • albinism (hair)
  • skin hypoplasia/aplasia/atrophy
  • cafe-au-lait spot
  • abnormal gait
  • anomalies of the immunitary system
  • thymic aplasia/hypoplasia
  • abnormal hepatic enzymes/transaminases
  • insulin-independent/type 2 diabetes
  • diabetes mellitus
  • elocution disorders/dysarthria/dysphonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • tremor
  • ataxia/incoordination/trouble of the equilibrium
  • nystagmus
  • abnormal eye movements/oculomotor disorder
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypertonia/spasticity/rigidity/stiffness
  • anomalies of skin, subcutaneous tissue and mucosae
  • repeat respiratory infections
  • short stature/dwarfism/nanism
  • neoplasms/tumors
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • premature greying of hair
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • abnormal/polycystic ovaries
  • telangiectasiae of mucosae
  • strabismus/squint
  • telangiectasiae of the skin
  • movement disorder
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • late puberty/hypogonadism/hypogenitalism
  • autosomal recessive inheritance

Drugs & Therapeutics for Ataxia Telangiectasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Ataxia Telangiectasia

Drug clinical trials:

Search ClinicalTrials for Ataxia Telangiectasia

Search NIH Clinical Center for Ataxia Telangiectasia

Search CenterWatch for Ataxia Telangiectasia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Ataxia Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia Telangiectasia:
Renexus
Embryonic/Adult Cultured Cells Related to Ataxia Telangiectasia:
Human retinal stem cells secreting CNTF, PMIDs: 16805711, 17508034, 16505355, 23049090, 15684670, 12581701, 15223826, 18830926

Genetic Tests for Ataxia Telangiectasia

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20GeneTests, 22GTR
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Genetic tests related to Ataxia Telangiectasia:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia20 ATM
2 Ataxia-Telangiectasia Syndrome22

Anatomical Context for Ataxia Telangiectasia

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32MalaCards
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MalaCards organs/tissues related to Ataxia Telangiectasia:

32
Eye, Brain, Skin, Lung, Breast, T cells, B cells, Testes, Ovary, Colon, Myeloid, Thyroid, Endothelial, Heart, Liver, Bone, Cardiac myocytes, Skeletal muscle, Testis, Pancreas, Prostate

Animal Models for Ataxia Telangiectasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ataxia Telangiectasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076811.1GADD45A, TOP2B, ATR, ATM, CHEK2, CHEK1
2MP:000200611.0NBN, MRE11A, GADD45A, ATR, ATM, CHEK2
3MP:000538411.0MRE11A, GADD45A, TOP2B, ATR, ATM, CHEK2
4MP:000538010.7MRE11A, GADD45A, TOP2B, RAD17
5MP:000538910.5GADD45A, ATR, CHEK1, ANTXR1, TCL1A, NBN

Publications for Ataxia Telangiectasia

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50PubMed
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Articles related to Ataxia Telangiectasia:

(show top 50)    (show all 724)
idTitleAuthorsYear
1
Cerebral abnormalities in adults with ataxia-telangiectasia. (23886747)
2014
2
DNA-dependent Protein Kinase Regulates DNA End Resection in Concert with Mre11-Rad50-Nbs1 (MRN) and Ataxia Telangiectasia-mutated (ATM). (24220101)
2013
3
Ataxia-telangiectasia or neurologic Wilson's disease: when strong family history becomes a diagnostic bias. (22826023)
2013
4
EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia. (24162653)
2013
5
Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle. (22941977)
2013
6
Ataxia-telangiectasia mutated kinase-mediated upregulation of NKG2D ligands on leukemia cells by resveratrol results in enhanced natural killer cell susceptibility. (23445485)
2013
7
Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging. (23975689)
2013
8
MicroRNA-18a upregulates autophagy and ataxia telangiectasia mutated gene expression in HCT116 colon cancer cells. (23229340)
2013
9
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. (22649200)
2012
10
The cellular ataxia telangiectasia-mutated kinase promotes epstein-barr virus lytic reactivation in response to multiple different types of lytic reactivation-inducing stimuli. (23015717)
2012
11
Inhibition of ataxia telangiectasia- and Rad3-related function abrogates the in vitro and in vivo tumorigenicity of human colon cancer cells through depletion of the CD133(+) tumor-initiating cell fraction. (21308861)
2011
12
The DNA damage response kinases DNA-dependent protein kinase (DNA-PK) and ataxia telangiectasia mutated (ATM) Are stimulated by bulky adduct-containing DNA. (21487018)
2011
13
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. (21665257)
2011
14
Over Expression of Nucleophosmin and Nucleolin Contributes to the Suboptimal Activation of a G2/M Checkpoint in Ataxia Telangiectasia Fibroblasts. (21499441)
2010
15
Ataxia-Telangiectasia and mechanical ventilation: a word of caution. (19085928)
2009
16
Syndrome of premature ageing in ataxia-telangiectasia patients]. (19799357)
2009
17
Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation. (18633429)
2009
18
Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning. (19344645)
2009
19
Foxo3 is essential for the regulation of ataxia telangiectasia mutated and oxidative stress-mediated homeostasis of hematopoietic stem cells. (18424439)
2008
20
Breast cancer incidence and the effect of cigarette smoking in heterozygous carriers of mutations in the ataxia-telangiectasia gene. (18990761)
2008
21
The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle. (18456574)
2008
22
Ataxia-telangiectasia mutated expression is associated with tobacco smoke exposure in esophageal cancer tissues and benzo[a]pyrene diol epoxide in cell lines. (17019709)
2007
23
Repair of potentially lethal damage in normal cells and ataxia telangiectasia cells; consideration of non-homologous end-joining. (17132914)
2007
24
The Mre11-Rad50-Nbs1 complex acts both upstream and downstream of ataxia telangiectasia mutated and Rad3-related protein (ATR) to regulate the S-phase checkpoint following UV treatment. (17526493)
2007
25
Characterization of the porcine ATM gene: towards the generation of a novel non-murine animal model for Ataxia-Telangiectasia. (17933474)
2007
26
Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome. (17591387)
2007
27
Extracellular signal-related kinase positively regulates ataxia telangiectasia mutated, homologous recombination repair, and the DNA damage response. (17283137)
2007
28
Loss of ataxia telangiectasia mutated- and Rad3-related function potentiates the effects of chemotherapeutic drugs on cancer cell survival. (17431119)
2007
29
Lung disease in ataxia-telangiectasia. (17524020)
2007
30
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. (16832357)
2006
31
Molecular basis of ataxia telangiectasia and related diseases. (16038621)
2005
32
Molecular pathology of ataxia telangiectasia. (16189143)
2005
33
Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. (15723659)
2005
34
Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice. (15863839)
2005
35
Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasia. (16150740)
2005
36
Antibody response to a seven-valent pneumococcal conjugated vaccine in patients with ataxia-telangiectasia. (15163897)
2004
37
Human cytomegalovirus causes endothelial injury through the ataxia telangiectasia mutant and p53 DNA damage signaling pathways. (15105295)
2004
38
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. (15039971)
2004
39
Ataxia-telangiectasia: diagnosis and treatment. (14653405)
2003
40
Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro. (10973490)
2000
41
Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM. (10500142)
1999
42
Ataxia telangiectasia with long survival. (18639085)
1998
43
An ataxia telangiectasia model: inefficient cell differentiation and possible reversal by serine protease inhibitors, tumor necrosis factor inhibitors, dexamethasone, and glutathione enhancers. (9881837)
1998
44
Genotype-phenotype relationships in ataxia-telangiectasia and variants. (9497252)
1998
45
A frequent polymorphism of the gene mutated in ataxia telangiectasia. (9076718)
1997
46
Mutations associated with variant phenotypes in ataxia- telangiectasia. (8755918)
1996
47
Microdissection study of the myenteric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic biliary atresia, pediatric AIDS and Werdnig-Hoffmann disease. (1409139)
1992
48
Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups. (1283330)
1992
49
Molecular analysis of a t(14;14) translocation in leukemic T-cells of an ataxia telangiectasia patient. (2783489)
1989
50
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. (3239952)
1988

Genetic Variations for Ataxia Telangiectasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ataxia Telangiectasia:

62 (show all 39)
id Symbol AA change Variation ID SNP ID
1ATMp.Lys224GluVAR_010801
2ATMp.Pro292LeuVAR_010802
3ATMp.Ile323ValVAR_010803
4ATMp.Phe570SerVAR_010808
5ATMp.Asn768AspVAR_010812
6ATMp.Arg785CysVAR_010813
7ATMp.Leu950ArgVAR_010815
8ATMp.Leu1001GlnVAR_010816
9ATMp.His1082LeuVAR_010819
10ATMp.Glu1091AspVAR_010820
11ATMp.Leu1420ProVAR_010823
12ATMp.Leu1465ProVAR_010826
13ATMp.Pro1566ArgVAR_010827
14ATMp.Thr1743IleVAR_010831
15ATMp.Val1913GlyVAR_010836
16ATMp.Asp2016GlyVAR_010838
17ATMp.Gly2063GluVAR_010839
18ATMp.Ala2067AspVAR_010840
19ATMp.Ser2218CysVAR_010844
20ATMp.Arg2227CysVAR_010846
21ATMp.Val2424GlyVAR_010854
22ATMp.Tyr2470AspVAR_010858
23ATMp.Trp2491ArgVAR_010860
24ATMp.His2554AspVAR_010862
25ATMp.Asp2625GlnVAR_010863
26ATMp.Leu2656ProVAR_010865
27ATMp.Glu2668GlyVAR_010868
28ATMp.Ile2702ArgVAR_010870
29ATMp.Ala2726ValVAR_010874
30ATMp.Cys2824TyrVAR_010878
31ATMp.Phe2827CysVAR_010879
32ATMp.Pro2829LeuVAR_010880
33ATMp.Arg2832CysVAR_010881
34ATMp.Arg2849ProVAR_010882
35ATMp.Ser2855ArgVAR_010883
36ATMp.Gly2867ArgVAR_010886
37ATMp.Glu2904GlyVAR_010889
38ATMp.Arg2909GlyVAR_010890
39ATMp.Arg3008CysVAR_010893

Expression for genes affiliated with Ataxia Telangiectasia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ataxia Telangiectasia

Search GEO for disease gene expression data for Ataxia Telangiectasia.

Pathways for genes affiliated with Ataxia Telangiectasia

About this section
Sources:
4Cell Signaling Technology, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 53Reactome, 55SinoBiological, 59Tocris Bioscience, 49PharmGKB
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Pathways related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.1MRE11A, GADD45A, ATR, ATM, ATRIP, CHEK2
2
Hide members
11.0NBN, MRE11A, GADD45A, ATR, ATM, ATRIP
3
Hide members
11.0MRE11A, GADD45A, ATR, ATM, ATRIP, CHEK2
410.9GADD45A, ATR, ATM, ATRIP, CHEK2, CHEK1
5
Hide members
10.9TOP2A, ATR, ATM, ATRIP, CHEK2, CHEK1
6
Hide members
10.8GADD45A, ATR, ATM, CHEK2, CHEK1, ANTXR1
7
Hide members
10.8ATR, ATM, ATRIP, CHEK2, CHEK1, RAD17
8
Hide members
10.8ATR, ATM, ATRIP, CHEK2, CHEK1, RAD17
910.8MRE11A, GADD45A, ATR, ATM, CHEK2, CHEK1
1010.8MRE11A, GADD45A, ATR, ATM, CHEK2, CHEK1
1110.8MRE11A, GADD45A, TOP2A, ATM, CHEK2, CHEK1
12
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
10.8NBN, CHEK2, ATM, ATR, MRE11A
13
Hide members
10.8ATR, ATM, ATRIP, CHEK2, CHEK1
14
Hide members
10.8MRE11A, ATR, ATM, CHEK2, CHEK1
15
Hide members
10.8CHEK1, CHEK2, ATM, ATR, GADD45A
1610.8MRE11A, GADD45A, ATM, CHEK2, CHEK1
17
Hide members
10.7MRE11A, ATR, ATM, NBN
18
Hide members
10.7NBN, ATM, ATR, MRE11A
1910.7CHEK1, CHEK2, ATM, ATR
20
Cell cycle Role of 14-3-3 proteins in cell cycle regulation
Hide members
10.7CHEK1, CHEK2, ATM, ATR
2110.7ATR, ATM, CHEK2, CHEK1
2210.7ATR, ATM, CHEK2, CHEK1
2310.7ATR, ATM, CHEK2, CHEK1
24
Hide members
10.7ATM, ATR, MRE11A
2510.7MRE11A, ATM, NBN
26
Hide members
10.7MRE11A, ATM, NBN
27
Hide members
10.7MRE11A, ATM, NBN
28
Hide members
10.7MRE11A, ATM, NBN
2910.7ATM, ATR, GADD45A
3010.7RAD17, ATM, ATR
31
Hide members
10.7TOP2B, TOP2A, CHEK2
32
Cell cycle Cell cycle (generic schema)
Hide members
10.7CHEK1, CHEK2, TOP2A
3310.6CHEK1, ATR
3410.6ATM, GADD45A
3510.6TOP2B, TOP2A

Compounds for genes affiliated with Ataxia Telangiectasia

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 28IUPHAR, 2BitterDB, 24HMDB
See all sources

Compounds related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1serine4411.5GADD45A, TOP2A, ATR, ATM, CHEK2, CHEK1
2camptothecin44 59 1113.4NBN, MRE11A, GADD45A, TOP2B, TOP2A, ATR
3etoposide44 49 59 1114.4GADD45A, TOP2B, TOP2A, ATR, ATM, CHEK2
4doxorubicin44 49 1113.3GADD45A, TOP2B, TOP2A, ATM, CHEK2, CHEK1
5threonine4411.3GADD45A, ATR, ATM, CHEK2, CHEK1, TCL1A
6hydroxyurea44 49 1113.2ATR, ATM, CHEK2, CHEK1, RAD17, NBN
7genistein44 28 59 2 11 2416.2GADD45A, TOP2B, TOP2A, ATR, ATM, CHEK2
8ku 600195911.2ATR, ATM, ANTXR1, MMAB, SERPINA2P
9ku 559335911.2ATR, ATM, ANTXR1, MMAB, SERPINA2P
10cisplatin44 49 59 1114.2GADD45A, TOP2B, TOP2A, ATM, CHEK2, CHEK1
11atp44 2812.2TOP2B, TOP2A, ATM, CHEK2, CHEK1, MMAB
12caffeine44 49 28 2 11 2416.2GADD45A, ATR, ATM, CHEK2, CHEK1
13n acetylcysteine4411.1GADD45A, ATM, CHEK2, CHEK1, NBN
14aphidicolin4411.1ATR, ATM, CHEK2, CHEK1
15sn 3844 5912.1CHEK1, CHEK2, TOP2A, TOP2B
16methylmethanesulfonate4411.1GADD45A, ATR, CHEK1, NBN
17cytarabine44 49 1113.1TOP2A, ATR, ATM, CHEK1
18bpde4411.0CHEK1, CHEK2, ATM
19adriamycin4411.0TOP2B, TOP2A, CHEK2, CHEK1
20mnng4411.0CHEK2, GADD45A
21tcs 23125910.9CHEK2, CHEK1
22sb 2180785910.9CHEK2, CHEK1
23nsc 109555 ditosylate5910.9CHEK2, CHEK1
24pf 4777365910.9CHEK2, CHEK1
25okadaic acid44 5911.9ATR, ATM, CHEK2, CHEK1
26topotecan44 1111.9CHEK1, ATM, TOP2A
27mitoxantrone44 49 1112.9TOP2B, TOP2A, ATM
28cpt 115910.9TOP2B, TOP2A
29doxorubicin hydrochloride5910.9TOP2B, TOP2A
30debromohymenialdisine44 1111.9CHEK2, CHEK1
31neocarzinostatin4410.9ATM, CHEK2
32dexrazoxane44 1111.8TOP2A, TOP2B
33phosphatidylinositol4410.8NBN, CHEK1, CHEK2, ATM, ATR
34gal 14410.8TOP2A, TOP2B
35rpa 24410.7ATR, CHEK1
36mitomycin c4410.7MRE11A, ATM, NBN
37tin(2+)4410.7NBN, MRE11A
38wortmannin4410.6ATR, ATM, CHEK2, CHEK1
39amsacrine44 1111.6TOP2A, TOP2B
40mononucleotide4410.3NBN, MRE11A

GO Terms for genes affiliated with Ataxia Telangiectasia

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Sources:
16Gene Ontology
See all sources

Cellular components related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00565411.2ATR, TOP2A, TOP2B, MRE11A, ATM, ATRIP
2chromosome, telomeric regionGO:00078110.9RAD17, CHEK1, CHEK2, ATM, MRE11A
3nucleoidGO:00929510.7TOP2B, TOP2A
4Mre11 complexGO:03087010.7NBN, MRE11A
5site of double-strand breakGO:03586110.6MRE11A, NBN
6synaptonemal complexGO:00079510.6TOP2A, TOP2B
7PML bodyGO:01660510.6NBN, CHEK2, ATR
8replication forkGO:00565710.3NBN, CHEK1

Biological processes related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1DNA repairGO:00628111.3MRE11A, GADD45A, TOP2A, ATR, ATM, ATRIP
2response to DNA damage stimulusGO:00697411.2MRE11A, TOP2A, ATR, ATM, CHEK2, CHEK1
3DNA damage checkpointGO:00007711.2NBN, ATR, ATRIP, CHEK2, CHEK1, RAD17
4DNA replicationGO:00626011.1RAD17, CHEK1, ATRIP, ATR, TOP2A
5replicative senescenceGO:09039911.0CHEK1, CHEK2, ATM, ATR
6double-strand break repairGO:00630211.0MRE11A, ATM, CHEK2, NBN
7DNA damage induced protein phosphorylationGO:00697511.0ATM, CHEK2, CHEK1
8double-strand break repair via homologous recombinationGO:00072410.9NBN, ATM, MRE11A
9sister chromatid segregationGO:00081910.9TOP2A, TOP2B
10mitotic recombinationGO:00631210.8TOP2B, TOP2A
11positive regulation of kinase activityGO:03367410.8NBN, MRE11A
12resolution of meiotic recombination intermediatesGO:00071210.8TOP2A, TOP2B
13DNA topological changeGO:00626510.8TOP2A, TOP2B
14signal transduction in response to DNA damageGO:04277010.8GADD45A, CHEK2
15positive regulation of protein autophosphorylationGO:03195410.7NBN, MRE11A
16positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.7ATM, ATR
17cellular response to gamma radiationGO:07148010.7ATM, ATR
18negative regulation of DNA replicationGO:00815610.6RAD17, ATR
19DNA-dependent DNA replicationGO:00626110.6TOP2B, TOP2A
20cell cycle arrestGO:00705010.6NBN, ATM, GADD45A
21DNA duplex unwindingGO:03250810.3NBN, MRE11A

Molecular functions related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.5NBN, BRAT1, MRE11A, NPAT, GADD45A, TOP2A
2ATP bindingGO:00552411.0TOP2B, TOP2A, ATR, ATM, CHEK2, CHEK1
3protein serine/threonine kinase activityGO:00467410.7CHEK1, CHEK2, ATM, ATR
4protein C-terminus bindingGO:00802210.6MRE11A, NPAT, TOP2B, TOP2A
5DNA topoisomerase type II (ATP-hydrolyzing) activityGO:00391810.6TOP2A, TOP2B
6protein N-terminus bindingGO:04748510.4NBN, ATM, NPAT

Products for genes affiliated with Ataxia Telangiectasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ataxia Telangiectasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet