MCID: ATX030
MIFTS: 86

Ataxia-Telangiectasia 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

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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 based summary: Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder and breast cancer, and has symptoms including polycystic ovaries, strabismus and nystagmus. An important gene associated with Ataxia-Telangiectasia is ATM (ataxia telangiectasia mutated), and among its related pathways are Fanconi anemia pathway and DNA Damage Induced 14-3-3Sigma Signaling. The compounds ku 55933 and ku 60019 have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related mouse phenotypes are embryogenesis and behavior/neurological.

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:23 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.

OMIM:47 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases,... (208900) more...

Wikipedia:65 Ataxia telangiectasia (A-T) (also referred to as Louis?Bar syndrome) is a rare, neurodegenerative,... more...

GeneReviews summary for ataxia-telangiectas

Aliases & Classifications for Ataxia-Telangiectasia

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Sources:
47OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 44NINDS, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 34MedlinePlus, 35MeSH, 57SNOMED-CT, 40NCIt, 62UMLS, 63UMLS via Orphanet, 36MESH via Orphanet, 28ICD10 via Orphanet
See all sources

Ataxia-Telangiectasia, Aliases & Descriptions:

Name: Ataxia-Telangiectasia 47 11 21 43 23 49 32
Ataxia Telangiectasia 32 10 65 43 22 44 12 45 34
Louis-Bar Syndrome 65 21 43 23 49
Telangiectasia, Cerebello-Oculocutaneous 65 23
Ataxia-Telangiectasia Variant 49 24
a-T 65 23
Immunodeficiency with Ataxia Telangiectasia 43
 
Cerebello-Oculocutaneous Telangiectasia 43
Ataxia Telangiectasia Syndrome 23
Boder-Sedgwick Syndrome 10
Louis Bar Syndrome 10
V-at 49
Atm 23
at 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
ataxia-telangiectasia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe); Age of onset: Childhood,Infancy; Age of death: adult


External Ids:

OMIM47 208900
Disease Ontology10 DOID:12704
MeSH35 D001260
NCIt40 C2887
SNOMED-CT57 68504005
Orphanet49 100, 370109
UMLS via Orphanet63 C0004135
MESH via Orphanet36 D001260
ICD10 via Orphanet28 G11.3

Related Diseases for Ataxia-Telangiectasia

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Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder Ataxia Telangiectasia Variant V1

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

(show top 50)    (show all 3335)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia-telangiectasia-like disorder31.1MRE11A, NBN
2breast cancer31.1NBN, CHEK2, ATM, TOPBP1
3nijmegen breakage syndrome31.0MRE11A, ATM, ATR, NBN, LIG4, CHEK2
4leukemia31.0CHEK2, NBN, LIG4, ATM
5lung cancer30.6NBN, LIG4, ATM, CHEK2
6werner syndrome30.4ATM, MRE11A, NBN
7apraxia30.4APTX, MRE11A
8cerebellar degeneration30.3ATM, MRE11A
9cerebellar ataxia30.3APTX, ATM
10nijmegen breakage syndrome-like disorder30.2RAD50
11bilateral breast cancer30.1CHEK2, ATM
12li-fraumeni syndrome30.1ATM, CHEK2
13burkitt lymphoma30.1ATM, CHEK2
14seckel syndrome30.1ATR, ATM, LIG4
15stomach cancer30.0CHEK2, RAD50, NBN
16microcephaly30.0ATR, NBN, MRE11A, RAD50, ATM, LIG4
17colorectal cancer30.0RAD50, MRE11A, ATM, NBN, CHEK2
18fanconi anemia, complementation group a29.2RAD50, NBN, ATM, MRE11A, LIG4
19ataxia11.5
20neuropathy10.7
21schizophrenia10.6
22ulnar neuropathy10.6
23prostate cancer10.6
24arthritis10.6
25pancreatitis10.6
26tuberculosis10.5
27obesity10.5
28rheumatoid arthritis10.5
29sarcoma10.5
30acute mountain sickness10.5
31asthma10.5
32aneurysm10.5
33neuroblastoma10.4
34neuronitis10.4
35lymphoblastic leukemia10.4
36eclampsia10.4
37influenza10.4
38hepatitis c10.4
39pre-eclampsia10.4
40dystonia10.4
41dysgerminoma10.4
42atherosclerosis10.4
43blindness10.4
44thalassemia10.4
45acute myocardial infarction10.4
46bipolar disorder10.4
47malaria10.4
48burns10.4
49dementia10.4
50hyperlipidemia type 310.4

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



Diseases related to ataxia-telangiectasia

Symptoms for Ataxia-Telangiectasia

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Symptoms by clinical synopsis from OMIM:

208900

Clinical features from OMIM:

208900

Symptoms:

 49 (show all 39)
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • nystagmus
  • anomalies of skin, subcutaneous tissue and mucosae
  • telangiectasiae of the skin
  • telangiectasiae of mucosae
  • premature greying of hair
  • abnormal hepatic enzymes/transaminases
  • repeat respiratory infections
  • thymic aplasia/hypoplasia
  • abnormal/polycystic ovaries
  • late puberty/hypogonadism/hypogenitalism
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • tremor
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • anomalies of the immunitary system
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • t-cell deficiency/cellular immunity deficiency
  • lymphopenia
  • autosomal recessive inheritance
  • chromosome breakage
  • premature ageing
  • albinism (hair)
  • diabetes mellitus
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • neoplasms/tumors
  • 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

HPO human phenotypes related to Ataxia-Telangiectasia:

(show all 62)
id Description Frequency HPO Source Accession
1 polycystic ovaries hallmark (90%) HP:0000147
2 strabismus hallmark (90%) HP:0000486
3 nystagmus hallmark (90%) HP:0000639
4 gait disturbance hallmark (90%) HP:0001288
5 tremor hallmark (90%) HP:0001337
6 lymphopenia hallmark (90%) HP:0001888
7 neurological speech impairment hallmark (90%) HP:0002167
8 recurrent respiratory infections hallmark (90%) HP:0002205
9 premature graying of hair hallmark (90%) HP:0002216
10 incoordination hallmark (90%) HP:0002311
11 elevated hepatic transaminases hallmark (90%) HP:0002910
12 abnormality of chromosome stability hallmark (90%) HP:0003220
13 hypogammaglobulinemia hallmark (90%) HP:0004313
14 cellular immunodeficiency hallmark (90%) HP:0005374
15 aplasia/hypoplasia of the thymus hallmark (90%) HP:0010515
16 mucosal telangiectasiae hallmark (90%) HP:0100579
17 teleangiectasia of the skin hallmark (90%) HP:0100585
18 seizures typical (50%) HP:0001250
19 hypertonia typical (50%) HP:0001276
20 neurological speech impairment typical (50%) HP:0002167
21 neoplasm typical (50%) HP:0002664
22 amyotrophy typical (50%) HP:0003202
23 short stature typical (50%) HP:0004322
24 hypopigmentation of hair typical (50%) HP:0005599
25 abnormality of the testis occasional (7.5%) HP:0000035
26 cafe-au-lait spot occasional (7.5%) HP:0000957
27 type ii diabetes mellitus occasional (7.5%) HP:0005978
28 aplasia/hypoplasia of the skin occasional (7.5%) HP:0008065
29 cognitive impairment occasional (7.5%) HP:0100543
30 autosomal recessive inheritance HP:0000007
31 female hypogonadism HP:0000134
32 sinusitis HP:0000246
33 strabismus HP:0000486
34 conjunctival telangiectasia HP:0000524
35 nystagmus HP:0000639
36 hypoplasia of the thymus HP:0000778
37 diabetes mellitus HP:0000819
38 delayed puberty HP:0000823
39 glucose intolerance HP:0000833
40 cafe-au-lait spot HP:0000957
41 seizures HP:0001250
42 ataxia HP:0001251
43 dysarthria HP:0001260
44 choreoathetosis HP:0001266
45 reduced tendon reflexes HP:0001315
46 dystonia HP:0001332
47 myoclonus HP:0001336
48 tremor HP:0001337
49 abnormality of the hair HP:0001595
50 lymphopenia HP:0001888
51 leukemia HP:0001909
52 bronchiectasis HP:0002110
53 iga deficiency HP:0002720
54 recurrent bronchitis HP:0002837
55 short stature HP:0004322
56 defective b cell differentiation HP:0005357
57 decreased number of cd4+ t cells HP:0005407
58 elevated alpha-fetoprotein HP:0006254
59 immunoglobulin igg2 deficiency HP:0008348
60 abnormal spermatogenesis HP:0008669
61 hodgkin lymphoma HP:0012189
62 non-hodgkin lymphoma HP:0012539

Drugs & Therapeutics for Ataxia-Telangiectasia

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Drug clinical trials:

Search ClinicalTrials for Ataxia-Telangiectasia

Search NIH Clinical Center 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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Genetic tests related to Ataxia-Telangiectasia:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia22 ATM
2 Ataxia-Telangiectasia Syndrome24

Anatomical Context for Ataxia-Telangiectasia

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MalaCards organs/tissues related to Ataxia-Telangiectasia:

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

Animal Models for Ataxia-Telangiectasia or affiliated genes

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MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.1ATM, RAD50, TOPBP1, ATR, NBN, MRE11A
2MP:00053867.9MRE11A, RAD50, NBN, ATM, ATR, LIG4
3MP:00020067.7RAD50, MRE11A, CHEK2, LIG4, NBN, ATM
4MP:00053897.6RAD50, LIG4, NBN, ATM, ATR, MRE11A
5MP:00053977.6RAD50, CHEK2, NBN, ATM, ATR, MRE11A
6MP:00053877.5RAD50, CHEK2, MRE11A, NBN, ATM, LIG4
7MP:00036317.3MRE11A, ATM, NBN, LIG4, ATR, RAD50
8MP:00107687.1RAD50, MRE11A, TOPBP1, ATR, ATM, NBN
9MP:00053846.3TOPBP1, LIG4, APTX, NBN, ATM, ATR

Publications for Ataxia-Telangiectasia

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Articles related to Ataxia-Telangiectasia:

(show top 50)    (show all 762)
idTitleAuthorsYear
1
Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin. (25881033)
2015
2
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. (25042086)
2014
3
Inhibition of Ataxia Telangiectasia Mutated (ATM) Kinase Suppresses Herpes Simplex Virus Type 1 (HSV-1) Keratitis. (24370835)
2013
4
Infections of the respiratory system in patients with ataxia-telangiectasia. (23761391)
2013
5
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. (23807571)
2013
6
Ataxia telangiectasia: learning from previous mistakes. (23242084)
2012
7
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. (22006793)
2012
8
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. (22213089)
2012
9
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
10
Ataxia telangiectasia: A report of two cousins and review of literature. (22563157)
2011
11
Ataxia telangiectasia and Rad3-related overexpressing cancer cells induce prolonged Ga88 arrest and develop resistance to ionizing radiation. (21294646)
2011
12
Ataxia telangiectasia mutated (Atm) and DNA-PKcs kinases have overlapping activities during chromosomal signal joint formation. (21245316)
2011
13
Ataxia telangiectasia: Family management. (20838492)
2010
14
Update on the management of the immunodeficiency in ataxia-telangiectasia. (20477642)
2009
15
Clinical spectrum of ataxia-telangiectasia in adulthood. (19535770)
2009
16
Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment. (19650357)
2009
17
Ataxia-Telangiectasia and mechanical ventilation: a word of caution. (19085928)
2009
18
Elevated ornithine decarboxylase levels activate ataxia telangiectasia mutated-DNA damage signaling in normal keratinocytes. (18381427)
2008
19
Foxo3 is essential for the regulation of ataxia telangiectasia mutated and oxidative stress-mediated homeostasis of hematopoietic stem cells. (18424439)
2008
20
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
21
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
22
Mutation and genomic deletion status of ataxia telangiectasia mutated (ATM) and p53 confer specific gene expression profiles in mantle cell lymphoma. (16461462)
2006
23
Recruitment of ataxia-telangiectasia mutated to the p21(waf1) promoter by ZBP-89 plays a role in mucosal protection. (16952553)
2006
24
Modifications of nuclear architecture and chromatin organization in ataxia telangiectasia cells are coupled to changes of gene transcription. (16795050)
2006
25
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing. (16411093)
2006
26
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. (16380133)
2006
27
Ataxia telangiectasia mutated down-regulates phospho-extracellular signal-regulated kinase 1/2 via activation of MKP-1 in response to radiation. (17178844)
2006
28
Molecular basis of ataxia telangiectasia and related diseases. (16038621)
2005
29
Molecular pathology of ataxia telangiectasia. (16189143)
2005
30
Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A. (15510216)
2004
31
ATP activates ataxia-telangiectasia mutated (ATM) in vitro. Importance of autophosphorylation. (12645530)
2003
32
53BP1 and NFBD1/MDC1-Nbs1 function in parallel interacting pathways activating ataxia-telangiectasia mutated (ATM) in response to DNA damage. (14695167)
2003
33
Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. (12393664)
2002
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
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
Comparative genome mapping of the ataxia-telangiectasia region in mouse, rat, and Syrian hamster. (8786135)
1996
43
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. (7573059)
1995
44
An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant. (7788963)
1995
45
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
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

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

64 (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:

7 (show all 18)
id Gene Variation 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.9079dupA (p.Ser3027Lysfs)duplicationLikely pathogenicGRCh38Chr 11, 108365415: 108365416
8NM_000051.3(ATM): c.7636_7644delTCTAGAATT (p.Arg2547_Ser2549del)deletionPathogenicGRCh38Chr 11, 108331885: 108331893
9ATMNM_000051.3(ATM): c.103C> T (p.Arg35Ter)single nucleotide variantPathogenicrs55861249GRCh37Chr 11, 108098533: 108098533
10NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro)indelLikely pathogenic, Pathogenicrs267606668GRCh37Chr 11, 108203575: 108203576
11NM_000051.3(ATM): c.7883_7887delTTATA (p.Ile2629Serfs)deletionPathogenicGRCh38Chr 11, 108332856: 108332860
12ATMNM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs)indelPathogenicGRCh38Chr 11, 108272813: 108272815
13NM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs)deletionPathogenicGRCh38Chr 11, 108333946: 108333949
14ATMNM_000051.3(ATM): c.3576G> A (p.Lys1192=)single nucleotide variantPathogenicGRCh38Chr 11, 108281168: 108281168
15ATMNM_000051.3(ATM): c.7327C> T (p.Arg2443Ter)single nucleotide variantPathogenicrs121434220GRCh37Chr 11, 108200960: 108200960
16ATMNM_000051.3(ATM): c.1066-6T> Gsingle nucleotide variantPathogenic, risk factorrs201686625GRCh38Chr 11, 108248927: 108248927
17ATMNM_000051.3: c.2839-581_2839-578delGTAAdeletionPathogenicGRCh38Chr 11, 108270483: 108270486
18ATMNM_000051.3(ATM): c.2250G> A (p.Lys750=)single nucleotide variantLikely pathogenic, Pathogenicrs1137887GRCh38Chr 11, 108256340: 108256340

Expression for genes affiliated with Ataxia-Telangiectasia

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Search GEO for disease gene expression data for Ataxia-Telangiectasia.

Pathways for genes affiliated with Ataxia-Telangiectasia

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Pathways related to Ataxia-Telangiectasia according to GeneCards/GeneDecks:

(show all 37)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9ATM, ATR
29.9ATM, ATR
39.9ATR, ATM
49.9ATR, ATM
5
Show member pathways
9.9ATM, ATR
69.7NBN, MRE11A
79.7ATM, TOPBP1
8
Show member pathways
9.6MRE11A, RAD50
9
Show member pathways
p53 pathway38
9.4CHEK2, ATM, ATR
10
Show member pathways
9.4ATR, ATM, CHEK2
11
Show member pathways
9.4CHEK2, ATR, ATM
129.4CHEK2, ATR, ATM
13
Show member pathways
Cell cycle38
9.4ATM, CHEK2, ATR
14
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
9.4ATR, ATM, CHEK2
159.4ATR, CHEK2, ATM
16
Show member pathways
9.4ATR, CHEK2, ATM
17
Show member pathways
9.4CHEK2, ATM, ATR
18
Show member pathways
9.2RAD50, NBN, MRE11A
199.0ATM, NBN, CHEK2, ATR
20
Show member pathways
8.9RAD50, ATM, MRE11A, NBN
218.9NBN, ATM, RAD50, MRE11A
22
Show member pathways
Homologous recombination38
8.9MRE11A, NBN, RAD50, ATM
23
Show member pathways
ATM Signaling Pathway38
8.8RAD50, CHEK2, ATM, MRE11A
248.8RAD50, CHEK2, ATM, MRE11A
25
Show member pathways
8.5ATM, NBN, RAD50, MRE11A, ATR
26
Show member pathways
8.5MRE11A, ATR, ATM, RAD50, NBN
27
Show member pathways
Non-homologous end joining38
DNA damage NHEJ mechanisms of DSBs repair60
8.5RAD50, LIG4, NBN, MRE11A
28
Show member pathways
8.5MRE11A, CHEK2, RAD50, ATR, ATM
298.5ATM, MRE11A, ATR, RAD50, CHEK2
30
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
8.5CHEK2, ATM, ATR, MRE11A, RAD50
31
Show member pathways
8.2RAD50, LIG4, NBN, ATM, MRE11A
32
Show member pathways
DNA damage response38
8.1MRE11A, ATM, NBN, CHEK2, RAD50, ATR
338.1MRE11A, ATR, RAD50, CHEK2, NBN, ATM
34
Show member pathways
8.1CHEK2, NBN, ATM, ATR, RAD50, MRE11A
358.0MRE11A, ATR, ATM, NBN, TOPBP1, RAD50
36
Show member pathways
7.9RAD50, ATM, MRE11A, ATR, NBN, LIG4
37
Show member pathways
7.9MRE11A, ATR, ATM, LIG4, RAD50, CHEK2

Compounds for genes affiliated with Ataxia-Telangiectasia

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Compounds related to Ataxia-Telangiectasia according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1ku 559336110.1ATM, ATR
2ku 600196110.1ATM, ATR
3neocarzinostatin4510.0ATM, CHEK2
4bpde459.9CHEK2, ATM
5aphidicolin459.7CHEK2, ATM, ATR
6mitomycin c459.6MRE11A, NBN, ATM
7caffeine45 30 3 51 26 1314.6ATM, ATR, CHEK2
8okadaic acid45 6110.6ATR, ATM, CHEK2
9tin(2+)459.5RAD50, NBN, MRE11A
10mononucleotide459.5RAD50, MRE11A, NBN
11genistein45 30 61 3 26 1314.4ATR, ATM, CHEK2
12n acetylcysteine459.4ATM, NBN, CHEK2
13etoposide45 51 61 1312.3NBN, ATM, ATR, CHEK2
14rapamycin459.2ATM, NBN, CHEK2
15polynucleotide459.2LIG4, APTX
16threonine459.1NBN, ATR, ATM, CHEK2
17wortmannin459.0CHEK2, ATM, ATR, LIG4
18doxorubicin45 51 1311.0CHEK2, NBN, ATM
19Adenosine triphosphate26 139.8ATM, CHEK2, LIG4, ATR
20methylmethanesulfonate458.8ATR, NBN, APTX, RAD50
21phosphatidylinositol458.7LIG4, CHEK2, ATM, ATR, NBN
22serine458.6NBN, ATM, ATR, CHEK2, RAD50
23camptothecin45 61 1310.4RAD50, NBN, CHEK2, ATM, ATR, MRE11A
24hydroxyurea45 51 1310.3CHEK2, RAD50, TOPBP1, NBN, ATM, ATR

GO Terms for genes affiliated with Ataxia-Telangiectasia

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

idNameGO IDScoreTop Affiliating Genes
1chromosomeGO:00056949.6ATR, TOPBP1
2nuclear chromosome, telomeric regionGO:00007849.4RAD50, NBN
3chromosome, telomeric regionGO:00007819.4CHEK2, ATM, MRE11A
4Mre11 complexGO:00308709.3NBN, MRE11A, RAD50
5site of double-strand breakGO:00358619.3MRE11A, RAD50, NBN
6PML bodyGO:00166058.9TOPBP1, ATR, NBN, CHEK2
7nucleolusGO:00057307.4MRE11A, NBN, APTX, LIG4, RAD50, NPAT
8nucleoplasmGO:00056546.8MRE11A, NBN, APTX, LIG4, CHEK2, RAD50
9nucleusGO:00056346.6NPAT, RAD50, TOPBP1, LIG4, APTX, NBN

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.1ATM, ATR
2cellular response to gamma radiationGO:007148010.1ATR, ATM
3DNA damage induced protein phosphorylationGO:000697510.0CHEK2, ATM
4mitotic G2 DNA damage checkpointGO:000709510.0MRE11A, NBN
5regulation of mitotic recombinationGO:00000199.9MRE11A, RAD50
6telomere maintenance via telomeraseGO:00070049.9RAD50, MRE11A
7DNA catabolic process, endonucleolyticGO:00007379.8MRE11A, RAD50
8replicative senescenceGO:00903999.8ATM, CHEK2, ATR
9response to ionizing radiationGO:00102129.8ATM, TOPBP1
10nucleic acid phosphodiester bond hydrolysisGO:00903059.8MRE11A, RAD50
11double-strand break repair via nonhomologous end joiningGO:00063039.7LIG4, MRE11A
12intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.7ATM, CHEK2
13neuron apoptotic processGO:00514029.7ATM, LIG4
14isotype switchingGO:00451909.7NBN, LIG4
15protein autophosphorylationGO:00467779.7CHEK2, ATM, ATR
16DNA damage checkpointGO:00000779.7CHEK2, ATR, NBN
17reciprocal meiotic recombinationGO:00071319.6MRE11A, RAD50, ATM
18response to gamma radiationGO:00103329.6LIG4, CHEK2
19DNA recombinationGO:00063109.6RAD50, MRE11A
20peptidyl-serine phosphorylationGO:00181059.6ATM, ATR
21positive regulation of kinase activityGO:00336749.6RAD50, NBN, MRE11A
22positive regulation of protein autophosphorylationGO:00319549.5MRE11A, RAD50, NBN
23DNA duplex unwindingGO:00325089.5MRE11A, RAD50, NBN
24telomere maintenanceGO:00007239.4RAD50, NBN
25DNA ligationGO:00062669.4APTX, LIG4
26single strand break repairGO:00000129.4LIG4, APTX
27double-strand break repair via homologous recombinationGO:00007249.2NBN, ATM, MRE11A, RAD50
28cell proliferationGO:00082839.1NBN, LIG4, MRE11A
29DNA repairGO:00062817.8TOPBP1, ATR, LIG4, RAD50, NBN, ATM
30cellular response to DNA damage stimulusGO:00069747.5APTX, MRE11A, ATR, TOPBP1, RAD50, CHEK2
31double-strand break repairGO:00063027.4MRE11A, APTX, NBN, ATM, LIG4, CHEK2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA endodeoxyribonuclease activityGO:00000149.6RAD50, MRE11A
23-5 exonuclease activityGO:00084089.6RAD50, MRE11A
3ATP-dependent DNA helicase activityGO:00040039.3MRE11A, NBN, RAD50
4damaged DNA bindingGO:00036849.2NBN, APTX
5protein serine/threonine kinase activityGO:00046749.1ATR, CHEK2, ATM
6protein N-terminus bindingGO:00474858.8NBN, APTX, NPAT, ATM
7protein C-terminus bindingGO:00080228.8LIG4, TOPBP1, MRE11A, NPAT
8ATP bindingGO:00055248.2ATR, ATM, LIG4, CHEK2, RAD50
9DNA bindingGO:00036777.9ATM, ATR, LIG4, MRE11A, TOPBP1, RAD50
10protein bindingGO:00055156.0APTX, TOPBP1, CHEK2, RAD50, NPAT, MRE11A

Products for genes affiliated with Ataxia-Telangiectasia

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  • Antibodies
  • Proteins
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  • Proteins
  • Kits and Assays

Sources for Ataxia-Telangiectasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet