AT
MCID: ATX002
MIFTS: 86

Ataxia Telangiectasia (AT) malady

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

Summaries for Ataxia Telangiectasia

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NINDS:45 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 short stature/dwarfism/nanism, skin hypoplasia/aplasia/atrophy and cafe-au-lait spot. An important gene associated with Ataxia Telangiectasia is ATM (ataxia telangiectasia mutated), and among its related pathways are DNA Damage Induced 14-3-3Sigma Signaling and GADD45 Pathway. The compounds neocarzinostatin and bpde have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Genetics Home Reference:22 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:44 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:35 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:66 Ataxia telangiectasia (A-T) (also referred to as Louis?Bar syndrome) is a rare, neurodegenerative,... more...

Description from OMIM:48 208900,208910

GeneReviews summary for ataxia-telangiectas

Aliases & Classifications for Ataxia Telangiectasia

About this section
Sources:
9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 46Novoseek, 35MedlinePlus, 32LifeMap Discovery™, 63UMLS, 10diseasecard, 20GeneReviews, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 41NCIt, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
ataxia-telangiectasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

ataxia telangiectasia 9 66 44 45 11 46 35 32 63
ataxia-telangiectasia 10 20 21 23 22 48 50
louis-bar syndrome 66 20 44 22 50
telangiectasia, cerebello-oculocutaneous 66 22
a-t 66 22
immunodeficiency with ataxia telangiectasia 44
cerebello-oculocutaneous telangiectasia 44
ataxia telangiectasia syndrome 22
odontoma dysphagia syndrome 63
boder-sedgwick syndrome 9
louis bar syndrome 9
atm 22
at 44


External Ids:

Disease Ontology9 DOID:12704
NCIt41 C2887
MeSH36 D001260
SNOMED-CT59 68504005
MESH via Orphanet37 D001260
ICD10 via Orphanet27 G11.3
SNOMED-CT via Orphanet60 68504005
UMLS via Orphanet64 C0004135

Related Diseases for Ataxia Telangiectasia

About this section
Sources:
18GeneCards, 19GeneDecks
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 3388)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.2ATM, CHEK2
2nijmegen breakage syndrome30.9MRE11A, ATR, ATM, NBN, CHEK2, RAD50
3early-onset ataxia with oculomotor apraxia and hypoalbuminemia30.7MRE11A, NBN
4werner syndrome30.4NBN, ATM, MRE11A
5cerebellar degeneration30.4ATM, MRE11A
6fanconi's anemia30.4MRE11A, ATM, NBN, RAD50
7burkitt's lymphoma30.2CHEK2, ATM
8seckel syndrome30.2ATM, ATR
9nijmegen breakage syndrome-like disorder30.2RAD50
10bilateral breast cancer30.1ATM, CHEK2
11li-fraumeni syndrome30.1ATM, CHEK2
12microcephaly30.0MRE11A, ATR, ATM, NBN, RAD50
13ovarian cancer29.9CHEK2, NBN, ATM, ATR
14colorectal cancer29.9MRE11A, ATM, NBN, CHEK2, RAD50
15stomach cancer29.9NBN, CHEK2, RAD50
16ataxia11.5
17neuropathy10.7
18leukemia10.6
19schizophrenia10.6
20hypertension10.6
21prostate cancer10.6
22ulnar neuropathy10.6
23arthritis10.6
24pancreatitis10.5
25tuberculosis10.5
26obesity10.5
27rheumatoid arthritis10.5
28sarcoma10.5
29acute mountain sickness10.5
30aneurysm10.5
31asthma10.5
32multiple sclerosis10.4
33neuronitis10.4
34lung cancer10.4
35neuroblastoma10.4
36insulin resistance10.4
37eclampsia10.4
38influenza10.4
39lymphoblastic leukemia10.4
40dysgerminoma10.4
41pre-eclampsia10.4
42thalassemia10.4
43atherosclerosis10.4
44blindness10.3
45bipolar disorder10.3
46dementia10.3
47hyperlipidemia type 310.3
48bloom syndrome10.3
49xeroderma pigmentosum10.3
50colon cancer10.3

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



Diseases related to ataxia telangiectasia

Symptoms for Ataxia Telangiectasia

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

208900

Clinical features from OMIM:

208900,208910

Symptoms:

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

Drugs & Therapeutics for Ataxia Telangiectasia

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Ataxia Telangiectasia:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia21 ATM
2 Ataxia-Telangiectasia Syndrome23

Anatomical Context for Ataxia Telangiectasia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Ataxia Telangiectasia:

34
Brain, Eye, Skin, Lung, Breast, T cells, B cells, Testes, Ovary, Colon, Thyroid, Myeloid, Heart, Endothelial, Bone, Skeletal muscle, Cardiac myocytes, Liver, Pancreas, Prostate, Testis

Animal Models for Ataxia Telangiectasia or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Ataxia Telangiectasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3ANTXR1, NBN, ATM, ATR, RAD50
2MP:00053898.0ATM, MRE11A, ATR, RAD50, ANTXR1, NBN
3MP:00053808.0MRE11A, ATR, ATM, NBN, RAD50
4MP:00053977.7ATR, ATM, NBN, CHEK2, MRE11A, RAD50
5MP:00020067.6ATR, RAD50, MRE11A, ANTXR1, CHEK2, NBN
6MP:00053877.6RAD50, ANTXR1, CHEK2, NBN, ATM, ATR
7MP:00053847.5ANTXR1, MRE11A, ATR, ATM, NBN, CHEK2
8MP:00107687.4RAD50, MRE11A, ATR, ATM, NBN, CHEK2

Publications for Ataxia Telangiectasia

About this section
Sources:
53PubMed
See all sources

Articles related to Ataxia Telangiectasia:

(show top 50)    (show all 717)
idTitleAuthorsYear
1
Inhibition of Ataxia Telangiectasia Mutated (ATM) Kinase Suppresses Herpes Simplex Virus Type 1 (HSV-1) Keratitis. (24370835)
2013
2
Infections of the respiratory system in patients with ataxia-telangiectasia. (23761391)
2013
3
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. (23807571)
2013
4
Dermatologic manifestations of ataxia-telangiectasia syndrome. (23360865)
2013
5
Ataxia telangiectasia: learning from previous mistakes. (23242084)
2012
6
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. (22006793)
2012
7
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. (22213089)
2012
8
Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice. (21321203)
2011
9
Ataxia telangiectasia: A report of two cousins and review of literature. (22563157)
2011
10
Ataxia telangiectasia and Rad3-related overexpressing cancer cells induce prolonged Ga88 arrest and develop resistance to ionizing radiation. (21294646)
2011
11
Ataxia telangiectasia mutated (Atm) and DNA-PKcs kinases have overlapping activities during chromosomal signal joint formation. (21245316)
2011
12
Ataxia telangiectasia: Family management. (20838492)
2010
13
Update on the management of the immunodeficiency in ataxia-telangiectasia. (20477642)
2009
14
Clinical spectrum of ataxia-telangiectasia in adulthood. (19535770)
2009
15
Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment. (19650357)
2009
16
Ataxia-Telangiectasia and mechanical ventilation: a word of caution. (19085928)
2009
17
Elevated ornithine decarboxylase levels activate ataxia telangiectasia mutated-DNA damage signaling in normal keratinocytes. (18381427)
2008
18
Foxo3 is essential for the regulation of ataxia telangiectasia mutated and oxidative stress-mediated homeostasis of hematopoietic stem cells. (18424439)
2008
19
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
20
Comparison of ataxia-telangiectasia mutated protein expression in diffuse large B-cell lymphomas of primary central nervous system and non-central nervous system origin. (17516749)
2007
21
Mutation and genomic deletion status of ataxia telangiectasia mutated (ATM) and p53 confer specific gene expression profiles in mantle cell lymphoma. (16461462)
2006
22
Recruitment of ataxia-telangiectasia mutated to the p21(waf1) promoter by ZBP-89 plays a role in mucosal protection. (16952553)
2006
23
Modifications of nuclear architecture and chromatin organization in ataxia telangiectasia cells are coupled to changes of gene transcription. (16795050)
2006
24
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. (16380133)
2006
25
Ataxia telangiectasia mutated down-regulates phospho-extracellular signal-regulated kinase 1/2 via activation of MKP-1 in response to radiation. (17178844)
2006
26
Identification of an ataxia telangiectasia-mutated protein mediated surveillance system to regulate Bcl-2 overexpression. (16636671)
2006
27
Molecular basis of ataxia telangiectasia and related diseases. (16038621)
2005
28
Molecular pathology of ataxia telangiectasia. (16189143)
2005
29
Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A. (15510216)
2004
30
ATP activates ataxia-telangiectasia mutated (ATM) in vitro. Importance of autophosphorylation. (12645530)
2003
31
53BP1 and NFBD1/MDC1-Nbs1 function in parallel interacting pathways activating ataxia-telangiectasia mutated (ATM) in response to DNA damage. (14695167)
2003
32
Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. (12393664)
2002
33
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
34
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. (11382771)
2001
35
Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulated lymphoblasts for detection of ATM protein. (10780798)
2000
36
Spontaneous and oxidative stress-induced programmed cell death in lymphocytes from patients with ataxia telangiectasia (AT). (10606975)
2000
37
Efficient DNA base excision repair in ataxia telangiectasia cells. (11082200)
2000
38
Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM. (10500142)
1999
39
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations. (9792410)
1998
40
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. (9711876)
1998
41
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. (9343108)
1997
42
An unusual case of urinary incontinence, ataxia-telangiectasia, and metastatic dysgerminoma: case report and review of the literature. (9301718)
1997
43
Comparative genome mapping of the ataxia-telangiectasia region in mouse, rat, and Syrian hamster. (8786135)
1996
44
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
45
Testing the role of p53 in the expression of genetic instability and apoptosis in ataxia-telangiectasia. (7836842)
1994
46
Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells. (8247533)
1993
47
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. (1279391)
1992
48
Ataxia-telangiectasia in a child with vaccine-associated paralytic poliomyelitis. (1517916)
1992
49
Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus. (2331673)
1990
50
Gonadoblastoma and dysgerminoma with ataxia-telangiectasia. (990441)
1976

Variations for Ataxia Telangiectasia

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Ataxia Telangiectasia:

65 (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

Clinvar genetic disease variations for Ataxia Telangiectasia:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1ATMNM_000051.3(ATM): c.6100C> T (p.Arg2034Ter)single nucleotide variantPathogenicGRCh38Chr 11, 108316015: 108316015
2ATMNM_000051.3(ATM): c.1024_1027delAAAG (p.Glu343Ilefs)deletionPathogenicGRCh38Chr 11, 108247086: 108247089
3ATMNM_000051.3(ATM): c.477_481delATCTC (p.Ser160Alafs)deletionPathogenicGRCh38Chr 11, 108235815: 108235819
4NM_000051.3(ATM): c.7788G> A (p.Glu2596=)single nucleotide variantPathogenicGRCh38Chr 11, 108332037: 108332037
5NM_000051.3(ATM): c.8035_8050del16 (p.Asn2679Serfs)deletionPathogenicGRCh38Chr 11, 108334993: 108335008
6NM_000051.3(ATM): c.8266A> T (p.Lys2756Ter)single nucleotide variantPathogenicGRCh38Chr 11, 108335959: 108335959
7NM_000051.3(ATM): c.7636_7644delTCTAGAATT (p.Arg2547_Ser2549del)deletionPathogenicGRCh38Chr 11, 108331885: 108331893
8ATMNM_000051.3(ATM): c.103C> T (p.Arg35Ter)single nucleotide variantPathogenicrs55861249GRCh37Chr 11, 108098533: 108098533
9NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro)indelLikely pathogenic, Pathogenicrs267606668GRCh37Chr 11, 108203575: 108203576
10NM_000051.3(ATM): c.7883_7887delTTATA (p.Ile2629Serfs)deletionPathogenicGRCh38Chr 11, 108332856: 108332860
11ATMNM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs)indelPathogenicGRCh38Chr 11, 108272813: 108272815
12NM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs)deletionPathogenicGRCh38Chr 11, 108333946: 108333949
13ATMNM_000051.3(ATM): c.3576G> A (p.Lys1192=)single nucleotide variantPathogenicGRCh38Chr 11, 108281168: 108281168
14ATMNM_000051.3(ATM): c.7327C> T (p.Arg2443Ter)single nucleotide variantPathogenicrs121434220GRCh37Chr 11, 108200960: 108200960
15ATMNM_000051.3(ATM): c.1066-6T> Gsingle nucleotide variantPathogenic, Uncertain significance, risk factorrs201686625GRCh38Chr 11, 108248927: 108248927
16ATMNM_000051.3: c.2839-581_2839-578delGTAAdeletionPathogenicGRCh38Chr 11, 108270483: 108270486
17ATMNM_000051.3(ATM): c.2250G> A (p.Lys750=)single nucleotide variantLikely pathogenic, Pathogenicrs1137887GRCh38Chr 11, 108256340: 108256340

Expression for genes affiliated with Ataxia Telangiectasia

About this section
Sources:
2BioGPS, 16Gene 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:
51PathCards, 54QIAGEN, 31KEGG, 56Reactome, 61Thomson Reuters, 58SinoBiological, 39NCBI BioSystems Database, 62Tocris Bioscience, 13EMD Millipore, 5Cell Signaling Technology
See all sources

Pathways related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

(show all 37)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ATR, ATM
210.0ATM, ATR
3
Show member pathways
10.0ATM, ATR
410.0ATM, ATR
5
Show member pathways
p53 pathway39
9.4ATR, ATM, CHEK2
6
Show member pathways
Cell cycle39
9.4ATR, ATM, CHEK2
7
Show member pathways
9.4CHEK2, ATM, ATR
89.4ATR, ATM, CHEK2
9
Show member pathways
9.4ATR, ATM, CHEK2
109.4ATR, ATM, CHEK2
119.3MRE11A, ATRIP, NBN
12
Show member pathways
9.2RAD50, MRE11A
139.2RPA2, ATRIP, ATR
14
Show member pathways
9.1ATR, ATM, CHEK2, ANTXR1
15
Show member pathways
Non-homologous end joining39
DNA damage NHEJ mechanisms of DSBs repair61
8.8RAD50, NBN, MRE11A
16
Show member pathways
8.8RAD50, NBN, MRE11A
178.6ATR, ATRIP, ATM, NBN, CHEK2
18
Show member pathways
8.5MRE11A, ATM, NBN, RAD50
198.5RAD50, NBN, ATM, MRE11A
20
Show member pathways
ATM Signaling Pathway39
8.5MRE11A, ATM, CHEK2, RAD50
218.5RAD50, CHEK2, ATM, MRE11A
22
Show member pathways
8.5ATR, ATRIP, ATM, CHEK2, RPA2
23
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
8.5ATR, ATRIP, ATM, CHEK2, RPA2
24
Show member pathways
8.5RPA2, CHEK2, ATM, ATRIP, ATR
258.3RAD50, NBN, ATM, ATR, MRE11A
26
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
8.2MRE11A, ATR, ATM, CHEK2, RAD50
27
Show member pathways
8.2MRE11A, ATR, ATM, CHEK2, RAD50
288.2MRE11A, ATR, ATM, CHEK2, RAD50
29
Show member pathways
7.9MRE11A, ATM, NBN, RPA2, RAD50
30
Show member pathways
Homologous recombination39
7.9MRE11A, ATM, NBN, RPA2, RAD50
317.7MRE11A, ATR, ATM, NBN, CHEK2, RAD50
32
Show member pathways
7.6MRE11A, ATR, ATM, NBN, RPA2, RAD50
33
Show member pathways
7.6MRE11A, ATR, ATM, NBN, RPA2, RAD50
34
Show member pathways
7.6MRE11A, ATR, ATM, NBN, RPA2, RAD50
35
Show member pathways
7.2MRE11A, ATR, ATRIP, ATM, CHEK2, RPA2
36
Show member pathways
DNA damage response39
6.8MRE11A, ATR, ATRIP, ATM, NBN, CHEK2
37
Show member pathways
6.3TRIM29, MRE11A, RAD50, RPA2, CHEK2, NBN

Compounds for genes affiliated with Ataxia Telangiectasia

About this section
Sources:
46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank, 30IUPHAR, 3BitterDB, 52PharmGKB
See all sources

Compounds related to Ataxia Telangiectasia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1neocarzinostatin4610.0CHEK2, ATM
2bpde469.9ATM, CHEK2
3rpa 2469.8RPA2, ATR
4ku 60019629.7ATR, ATM, MMAB, ANTXR1
5ku 55933629.7ATR, ATM, MMAB, ANTXR1
6manganese46 2510.6MRE11A, ATR, MMAB
7mitomycin c469.6MRE11A, ATM, NBN
8okadaic acid46 6210.6CHEK2, ATM, ATR
9n acetylcysteine469.3CHEK2, NBN, ATM
10methylmethanesulfonate469.2ATR, NBN, RAD50
11aphidicolin469.2ATR, ATM, CHEK2, RPA2
12rapamycin469.1CHEK2, NBN, ATM
13Adenosine triphosphate25 1210.1ATR, ATM, MMAB, CHEK2
14caffeine46 30 3 52 25 1214.1RPA2, CHEK2, ATM, ATR
15tin(2+)469.1RAD50, NBN, MRE11A
16mononucleotide469.1MRE11A, NBN, RAD50
17wortmannin469.1RPA2, CHEK2, ATM, ATR
18doxorubicin46 52 1210.9ATM, NBN, CHEK2
19etoposide46 52 62 1211.7ATR, ATM, NBN, CHEK2, RPA2
20phosphatidylinositol468.6ATR, ATM, NBN, CHEK2, RPA2
21threonine468.6ATR, ATM, NBN, CHEK2, RPA2
22atp46 309.6RAD50, CHEK2, MMAB, ATM
23hydroxyurea46 52 129.9ATR, ATM, NBN, CHEK2, RPA2, RAD50
24serine467.8ATR, ATM, NBN, CHEK2, RPA2, RAD50
25camptothecin46 62 129.5RAD50, MRE11A, ATR, ATM, NBN, CHEK2

GO Terms for genes affiliated with Ataxia Telangiectasia

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosome, telomeric regionGO:0007849.2NBN, RAD50
2chromosome, telomeric regionGO:0007819.2ATM, MRE11A, CHEK2
3Mre11 complexGO:0308708.9NBN, MRE11A, RAD50
4site of double-strand breakGO:0358618.9MRE11A, RAD50, NBN
5PML bodyGO:0166058.6ATR, NBN, CHEK2, RPA2
6nucleolusGO:0057307.2MRE11A, NPAT, RPA2, NBN, ATRIP, RAD50
7nucleoplasmGO:0056546.9ATM, ATR, NBN, CHEK2, RPA2, RAD50

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:04351710.2ATM, ATR
2cellular response to gamma radiationGO:07148010.1ATR, ATM
3DNA damage induced protein phosphorylationGO:00697510.0ATM, CHEK2
4peptidyl-serine phosphorylationGO:01810510.0ATM, ATR
5mitotic G2 DNA damage checkpointGO:0070959.9NBN, MRE11A
6replicative senescenceGO:0903999.8CHEK2, ATM, ATR
7response to ionizing radiationGO:0102129.7BRAT1, ATM
8protein autophosphorylationGO:0467779.5CHEK2, ATM, ATR
9regulation of mitotic recombinationGO:0000199.5RAD50, MRE11A
10telomere maintenance via telomeraseGO:0070049.5RAD50, MRE11A
11intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.4CHEK2, ATM
12DNA replicationGO:0062609.4RPA2, ATRIP, ATR
13DNA catabolic process, endonucleolyticGO:0007379.3MRE11A, RAD50
14reciprocal meiotic recombinationGO:0071319.3MRE11A, ATM, RAD50
15nucleic acid phosphodiester bond hydrolysisGO:0903059.2RAD50, MRE11A
16DNA damage checkpointGO:0000779.2ATR, ATRIP, NBN, CHEK2
17positive regulation of kinase activityGO:0336749.1MRE11A, NBN, RAD50
18positive regulation of protein autophosphorylationGO:0319549.1RAD50, NBN, MRE11A
19DNA duplex unwindingGO:0325089.1MRE11A, NBN, RAD50
20telomere maintenanceGO:0007238.8RAD50, RPA2, NBN
21cellular response to DNA damage stimulusGO:0069748.5RAD50, CHEK2, ATM, ATR, MRE11A
22double-strand break repair via homologous recombinationGO:0007248.3MRE11A, ATM, NBN, RPA2, RAD50
23double-strand break repairGO:0063027.8RAD50, RPA2, CHEK2, NBN, ATM, MRE11A
24DNA repairGO:0062817.7MRE11A, ATR, ATRIP, ATM, NBN, RPA2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activityGO:0046749.4CHEK2, ATM, ATR
2single-stranded DNA endodeoxyribonuclease activityGO:0000149.2RAD50, MRE11A
33-5 exonuclease activityGO:0084089.1MRE11A, RAD50
4protein N-terminus bindingGO:0474859.0NPAT, RPA2, NBN, ATM
5ATP-dependent DNA helicase activityGO:0040038.9RAD50, MRE11A, NBN
6ATP bindingGO:0055248.0ATR, ATM, MMAB, CHEK2, RAD50
7protein bindingGO:0055155.4NBN, CHEK2, ANTXR1, RPA2, RAD50, NPAT

Products for genes affiliated with Ataxia Telangiectasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ataxia Telangiectasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet