AT
MCID: ATX002
MIFTS: 81

Ataxia Telangiectasia (AT) malady

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

Summaries for Ataxia Telangiectasia

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NINDS:44 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 nijmegen breakage syndrome and bloom syndrome, and has symptoms including autosomal recessive inheritance, hypertonia/spasticity/rigidity/stiffness and seizures/epilepsy/absences/spasms/status epilepticus. 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 skin, ovary and liver, and related mouse phenotypes are mortality/aging and tumorigenesis.

NIH Rare Diseases:43 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:34 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

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.

Wikipedia:64 Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative,... more...

Description from OMIM:47 208900,208910

GeneReviews summary for ataxia-telangiectas

Aliases & Classifications for Ataxia Telangiectasia

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Reproductive, Skin, Endocrine, Blood, Immune


Characteristics (Orphanet epidemiological data):

49
ataxia-telangiectasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

ataxia telangiectasia 8 64 43 44 10 45 34 31 61
ataxia-telangiectasia 9 19 20 22 21 47 49
louis-bar syndrome 64 19 43 21 49
telangiectasia, cerebello-oculocutaneous 64 21
a-t 64 21
immunodeficiency with ataxia telangiectasia 43
cerebello-oculocutaneous telangiectasia 43
ataxia telangiectasia syndrome 21
odontoma dysphagia syndrome 61
boder-sedgwick syndrome 8
louis bar syndrome 8
atm 21
at 43


External Ids:

Disease Ontology8 DOID:12704
NCIt40 C2887
MeSH35 D001260
SNOMED-CT57 68504005
MESH via Orphanet36 D001260
ICD10 via Orphanet26 G11.3
SNOMED-CT via Orphanet58 68504005
UMLS via Orphanet62 C0004135

Related Diseases for Ataxia Telangiectasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 3298)
idRelated DiseaseScoreTop Affiliating Genes
1nijmegen breakage syndrome31.1MRE11A, ATR, ATM, CHEK2, NBN
2bloom syndrome30.7ATM
3early-onset ataxia with oculomotor apraxia and hypoalbuminemia30.6NBN, MRE11A
4fanconi's anemia30.5NBN, CHEK1, ATM, MRE11A
5xeroderma pigmentosum30.5GADD45A
6werner syndrome30.4NBN, ATM, MRE11A
7adenocarcinoma30.4CHEK2, TOP2A, GADD45A, MRE11A
8microcephaly30.0NBN, ATM, ATR, MRE11A
9colorectal cancer30.0MRE11A, TOP2A, ATM, CHEK2, CHEK1, NBN
10burkitt's lymphoma30.0GADD45A, ATM, CHEK2, TRG, TCL1A, NBN
11acute lymphoblastic leukemia, childhood30.0TOP2A, ATM, NBN
12stomach cancer30.0TOP2A, ATR, CHEK2, CHEK1
13non-hodgkin lymphoma30.0TOP2A, ATM, TCL1A, NBN
14li-fraumeni syndrome29.7ATM, CHEK2
15b-cell lymphomas29.5ATM, TRG, TCL1A, NBN
16breast cancer, invasive ductal29.4ATM, TOP2A
17ataxia11.5
18ataxia-telangiectasia variant10.7
19n syndrome10.7
20ulnar neuropathy10.6
21odontoma dysphagia syndrome10.6
22alzheimer's disease10.5
23t-cell leukemia10.5
24acute leukemia10.4
25acute mountain sickness10.4
26eclampsia10.4
27insulin resistance10.4
28squamous cell carcinoma10.4
29dysgerminoma10.4
30adenoma10.4
31fanconi syndrome10.3
32hyperlipidemia type 310.3
33coronary heart disease10.3
34tetanus10.3
35acute myocardial infarction10.3
36syphilis10.3
37bronchopulmonary dysplasia10.3
38atopy10.3
39parkinson's disease10.3
40protein s deficiency10.3
41agammaglobulinemia10.3
42apraxia10.3
43t cell deficiency10.3
44hereditary ataxia10.3
45protein r deficiency10.3
46pulmonary function10.3
47lip disease10.3
48hepatitis b10.3
49micro syndrome10.3
50sepsis10.3

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



Diseases related to ataxia telangiectasia

Clinical Features for Ataxia Telangiectasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

208900,208910

Clinical synopsis from OMIM:

208900

Symptoms:

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

Drugs & Therapeutics for Ataxia Telangiectasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Ataxia Telangiectasia:

id Genetic test Affiliating Genes
1 Ataxia-telangiectasia20 ATM
2 Ataxia-telangiectasia Syndrome22

Anatomical Context for Ataxia Telangiectasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Ataxia Telangiectasia:

33
Skin, Ovary, Liver, Brain, Lung, Heart, Skeletal muscle, Colon, Pancreas, Thyroid, Breast, Prostate, Testis, Myeloid, T cells, B lymphoblasts, B cells, Endothelial, Cardiac myocytes

Animal Models for Ataxia Telangiectasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Ataxia Telangiectasia:

37
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

Sources:
51PubMed
See all sources

Articles related to Ataxia Telangiectasia:

(show top 50)    (show all 725)
idTitleAuthorsYear
1
The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia. (23502677)
2013
2
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. (23946315)
2013
3
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis. (23121321)
2013
4
Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia-telangiectasia. (23011031)
2013
5
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. (23142947)
2013
6
Ataxia telangiectasia and Rad3-related overexpressing cancer cells induce prolonged Ga88 arrest and develop resistance to ionizing radiation. (21294646)
2011
7
Heme oxygenase-1 and carbon monoxide modulate DNA repair through ataxia-telangiectasia mutated (ATM) protein. (21849621)
2011
8
Activation of interferon-stimulated genes by gamma-ray irradiation independently of the ataxia telangiectasia mutated-p53 pathway. (21357441)
2011
9
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. (21394101)
2011
10
Gallic acid induces apoptosis of lung fibroblasts via a reactive oxygen species-dependent ataxia telangiectasia mutated-p53 activation pathway. (20151649)
2010
11
Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. (19705055)
2009
12
Inhibition of ataxia telangiectasia mutated kinase activity enhances TRAIL-mediated apoptosis in human melanoma cells. (19351839)
2009
13
Psoralen-induced DNA interstrand cross-links block transcription and induce p53 in an ataxia-telangiectasia and rad3-related-dependent manner. (19064630)
2009
14
A novel ataxia-telangiectasia mutated autoregulatory feedback mechanism in murine embryonic stem cells. (19324671)
2009
15
Ku, Artemis, and ataxia-telangiectasia-mutated: signalling networks in DNA damage. (18243767)
2008
16
Brain MRI abnormalities in ataxia-telangiectasia. (18469676)
2008
17
Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis. (17600866)
2007
18
Transcriptome analysis of the Aspergillus nidulans AtmA (ATM, Ataxia-Telangiectasia mutated) null mutant. (17880424)
2007
19
Regulation of oxidative stress responses by ataxia-telangiectasia mutated is required for T cell proliferation. (17404255)
2007
20
Mutation and genomic deletion status of ataxia telangiectasia mutated (ATM) and p53 confer specific gene expression profiles in mantle cell lymphoma. (16461462)
2006
21
ATM and the DNA damage response. Workshop on ataxia-telangiectasia and related syndromes. (16439996)
2006
22
Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk. (16497724)
2006
23
Defective Mre11-dependent activation of Chk2 by ataxia telangiectasia mutated in colorectal carcinoma cells in response to replication-dependent DNA double strand breaks. (16905549)
2006
24
Effects of hydroxyurea and aphidicolin on phosphorylation of ataxia telangiectasia mutated on Ser 1981 and histone H2AX on Ser 139 in relation to cell cycle phase and induction of apoptosis. (16528719)
2006
25
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. (17124347)
2006
26
Ataxia-telangiectasia genes and breast cancer risk in a French family study. (16180724)
2005
27
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. (16266405)
2005
28
Ataxia telangiectasia mutated (ATM) and ATM and Rad3-related protein exhibit selective target specificities in response to different forms of DNA damage. (15533933)
2005
29
Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk. (15824150)
2005
30
Analysis of ataxia-telangiectasia mutated (ATM)- and Nijmegen breakage syndrome (NBS)-regulated gene expression patterns. (14745549)
2004
31
Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case-control study. (15217510)
2004
32
Desferrioxamine treatment increases the genomic stability of Ataxia-telangiectasia cells. (12967654)
2003
33
Aberrant sensing of extracellular Ca2+ by cultured ataxia telangiectasia fibroblasts. (12545170)
2003
34
A critical role for Pin2/TRF1 in ATM-dependent regulation. Inhibition of Pin2/TRF1 function complements telomere shortening, radiosensitivity, and the G(2)/M checkpoint defect of ataxia-telangiectasia cells. (11744712)
2002
35
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. (12195425)
2002
36
Increased oxidative stress in ataxia telangiectasia evidenced by alterations in redox state of brains from Atm-deficient mice. (11280737)
2001
37
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes. (10864201)
2000
38
Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia]. (10891797)
2000
39
The ataxia-telangiectasia related protein ATR mediates DNA-dependent phosphorylation of p53. (10435622)
1999
40
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. (9711876)
1998
41
Cloning and expression of the ataxia-telangiectasia gene in baculovirus. (9535798)
1998
42
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. (9343108)
1997
43
An unusual case of urinary incontinence, ataxia-telangiectasia, and metastatic dysgerminoma: case report and review of the literature. (9301718)
1997
44
Rapamycin resistance in ataxia-telangiectasia. (8806686)
1996
45
The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor. (7644499)
1995
46
Reduced induction of P53 protein by gamma-irradiation in ataxia telangiectasia cells without constitutional mutations in exons 5, 6, 7, and 8 of the p53 gene. (7923077)
1994
47
Response of fibroblast cultures from ataxia-telangiectasia patients to reactive oxygen species generated during inflammatory reactions. (7925323)
1994
48
Cloning of a candidate gene for ataxia-telangiectasia group D. (1609804)
1992
49
The ets-1 gene and ataxia telangiectasia. (1981470)
1990
50
Bromodeoxyuridine (BrdU) template and thymidine pool effects on high frequencies of sister-chromatid exchange (SCE) in Bloom syndrome cells and a mutant cell line (AsHa) originated from ataxia telangiectasia. (2374555)
1990

Genetic Variations for Ataxia Telangiectasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Ataxia Telangiectasia:

63 (show all 40)
id Symbol AA change Variation 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.Ser1691ArgVAR_010830rs1800059
15ATMp.Thr1743IleVAR_010831
16ATMp.Val1913GlyVAR_010836
17ATMp.Asp2016GlyVAR_010838
18ATMp.Gly2063GluVAR_010839
19ATMp.Ala2067AspVAR_010840
20ATMp.Ser2218CysVAR_010844
21ATMp.Arg2227CysVAR_010846
22ATMp.Val2424GlyVAR_010854
23ATMp.Tyr2470AspVAR_010858
24ATMp.Trp2491ArgVAR_010860
25ATMp.His2554AspVAR_010862
26ATMp.Asp2625GlnVAR_010863
27ATMp.Leu2656ProVAR_010865
28ATMp.Glu2668GlyVAR_010868
29ATMp.Ile2702ArgVAR_010870
30ATMp.Ala2726ValVAR_010874
31ATMp.Cys2824TyrVAR_010878
32ATMp.Phe2827CysVAR_010879
33ATMp.Pro2829LeuVAR_010880
34ATMp.Arg2832CysVAR_010881
35ATMp.Arg2849ProVAR_010882
36ATMp.Ser2855ArgVAR_010883
37ATMp.Gly2867ArgVAR_010886
38ATMp.Glu2904GlyVAR_010889
39ATMp.Arg2909GlyVAR_010890
40ATMp.Arg3008CysVAR_010893

Expression for genes affiliated with Ataxia Telangiectasia

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

Sources:
4Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 54Reactome, 56SinoBiological, 60Tocris Bioscience, 50PharmGKB
See all sources

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

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 29IUPHAR, 2BitterDB, 24HMDB
See all sources

Compounds related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1serine4511.5GADD45A, TOP2A, ATR, ATM, CHEK2, CHEK1
2camptothecin45 60 1113.4NBN, MRE11A, GADD45A, TOP2B, TOP2A, ATR
3etoposide45 50 60 1114.4GADD45A, TOP2B, TOP2A, ATR, ATM, CHEK2
4doxorubicin45 50 1113.3GADD45A, TOP2B, TOP2A, ATM, CHEK2, CHEK1
5threonine4511.3GADD45A, ATR, ATM, CHEK2, CHEK1, TCL1A
6hydroxyurea45 50 1113.2ATR, ATM, CHEK2, CHEK1, RAD17, NBN
7genistein45 29 60 2 11 2416.2GADD45A, TOP2B, TOP2A, ATR, ATM, CHEK2
8ku 600196011.2ATR, ATM, ANTXR1, MMAB, SERPINA2P
9ku 559336011.2ATR, ATM, ANTXR1, MMAB, SERPINA2P
10cisplatin45 50 60 1114.2GADD45A, TOP2B, TOP2A, ATM, CHEK2, CHEK1
11atp45 2912.2TOP2B, TOP2A, ATM, CHEK2, CHEK1, MMAB
12caffeine45 50 29 2 11 2416.2GADD45A, ATR, ATM, CHEK2, CHEK1
13n acetylcysteine4511.1GADD45A, ATM, CHEK2, CHEK1, NBN
14aphidicolin4511.1ATR, ATM, CHEK2, CHEK1
15sn 3845 6012.1CHEK1, CHEK2, TOP2A, TOP2B
16methylmethanesulfonate4511.1GADD45A, ATR, CHEK1, NBN
17cytarabine45 50 1113.1TOP2A, ATR, ATM, CHEK1
18bpde4511.0CHEK1, CHEK2, ATM
19adriamycin4511.0TOP2B, TOP2A, CHEK2, CHEK1
20mnng4511.0CHEK2, GADD45A
21tcs 23126010.9CHEK2, CHEK1
22sb 2180786010.9CHEK2, CHEK1
23nsc 109555 ditosylate6010.9CHEK2, CHEK1
24pf 4777366010.9CHEK2, CHEK1
25okadaic acid45 6011.9ATR, ATM, CHEK2, CHEK1
26topotecan45 1111.9CHEK1, ATM, TOP2A
27mitoxantrone45 50 1112.9TOP2B, TOP2A, ATM
28cpt 116010.9TOP2B, TOP2A
29doxorubicin hydrochloride6010.9TOP2B, TOP2A
30debromohymenialdisine45 1111.9CHEK2, CHEK1
31neocarzinostatin4510.9ATM, CHEK2
32dexrazoxane45 1111.8TOP2A, TOP2B
33phosphatidylinositol4510.8NBN, CHEK1, CHEK2, ATM, ATR
34gal 14510.8TOP2A, TOP2B
35rpa 24510.7ATR, CHEK1
36mitomycin c4510.7MRE11A, ATM, NBN
37tin(2+)4510.7NBN, MRE11A
38wortmannin4510.6ATR, ATM, CHEK2, CHEK1
39amsacrine45 1111.6TOP2A, TOP2B
40mononucleotide4510.3NBN, MRE11A

GO Terms for genes affiliated with Ataxia Telangiectasia

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:00551511.5NPAT, CHEK2, ATRIP, ATM, ATR, TOP2A
2ATP bindingGO:00552411.0RAD17, TOP2B, TOP2A, CHEK1, ATR, ATM
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ataxia Telangiectasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet