AT
MCID: ATX030
MIFTS: 83

Ataxia-Telangiectasia (AT)

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Ataxia-Telangiectasia

MalaCards integrated aliases for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 58 25 26 60 76 13 39 41
Ataxia Telangiectasia 39 12 77 54 76 38 56 44 45 15 74
Louis-Bar Syndrome 58 77 54 26 60 76
Ataxia-Telangiectasia Variant 60 30 6 74
at 58 54 76
Ataxia-Telangiectasia Syndrome 30 6
At1 58 76
Immunodeficiency with Ataxia Telangiectasia 54
Telangiectasia, Cerebello-Oculocutaneous 26
Cerebello-Oculocutaneous Telangiectasia 54
Ataxia Telangiectasia Syndrome 26
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 60
a-T 26
Atm 26

Characteristics:

Orphanet epidemiological data:

60
ataxia-telangiectasia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (France),1-9/100000 (Italy); Age of onset: Childhood,Infancy; Age of death: adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
ataxia becomes evident at the end of the first year of life
telangiectasia become evident between the second and eighth year of life
hypersensitivity to ionizing radiation
variant at may present with dystonia only


HPO:

33
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia

NINDS : 55 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.  Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

MalaCards based summary : Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder 1 and nijmegen breakage syndrome, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Homologous recombination and Cell cycle. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and t cells, and related phenotypes are nystagmus and ataxia

Genetics Home Reference : 26 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 : 54 Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.

OMIM : 58 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. (208900)

MedlinePlus : 44 Ataxia-telangiectasia (A-T) 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 A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke

UniProtKB/Swiss-Prot : 76 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

Wikipedia : 77 Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar... more...

GeneReviews: NBK26468

Related Diseases for Ataxia-Telangiectasia

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2

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

(show top 50) (show all 5403)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 34.6 MRE11 NBN
2 nijmegen breakage syndrome 33.0 ATM BRCA1 CHEK2 MRE11 NBN RAD50
3 ocular motor apraxia 32.3 APTX ATM
4 synchronous bilateral breast carcinoma 31.8 ATM BRCA1 TP53
5 lig4 syndrome 31.1 ATM ATR DCLRE1C NBN PRKDC
6 xeroderma pigmentosum, variant type 30.9 ATM RPA1 RPA2 TP53
7 werner syndrome 30.6 MRE11 NBN RPA1
8 fanconi anemia, complementation group g 30.5 CHEK1 CHEK2
9 t-cell prolymphocytic leukemia 30.4 ATM CHEK2 TCL1A
10 li-fraumeni syndrome 2 30.3 CHEK2 TP53
11 bilateral breast cancer 30.2 ATM BRCA1 CHEK2
12 lymphoma, non-hodgkin, familial 29.8 ATM FAS-AS1 NBN TCL1A TP53
13 fanconi anemia, complementation group a 29.8 ATM BRCA1 CHEK1 MRE11 NBN RAD50
14 breast cancer 29.8 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
15 li-fraumeni syndrome 29.8 ATM BRCA1 CHEK1 CHEK2 TP53
16 female breast cancer 29.7 ATM BRCA1 TP53
17 severe combined immunodeficiency with sensitivity to ionizing radiation 29.6 DCLRE1C PRKDC TP53BP1
18 sporadic breast cancer 29.5 ATM BRCA1 CHEK2 TP53
19 uterine corpus serous adenocarcinoma 28.7 BRCA1 TP53
20 hereditary breast ovarian cancer syndrome 28.6 ATM BRCA1 CHEK2 MRE11 NBN RAD50
21 ataxia-telangiectasia-like disorder 2 12.7
22 ataxia-telangiectasia with generalized skin pigmentation and early death 12.4
23 menarche, age at, quantitative trait locus 1 12.1
24 menopause, natural, age at, quantitative trait locus 1 12.1
25 menopause, natural, age at, quantitative trait locus 2 12.1
26 menopause, natural, age at, quantitative trait locus 4 12.1
27 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.1
28 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.1
29 ear antitragus, tag at base of 12.0
30 teeth present at birth 12.0
31 menarche, age at, quantitative trait locus 2 12.0
32 menarche, age at, quantitative trait locus 3 12.0
33 pulmonary fungal infections in patients deemed at risk 12.0
34 poliomyelitis in patients with immunodeficiencies deemed at risk 12.0
35 arterial tortuosity syndrome 11.9
36 antithrombin iii deficiency 11.7
37 ceroid lipofuscinosis, neuronal, 1 11.7
38 andersen cardiodysrhythmic periodic paralysis 11.6
39 atypical teratoid rhabdoid tumor 11.6
40 hereditary antithrombin deficiency 11.4
41 leiomyomatosis, diffuse, with alport syndrome 11.3
42 anemia, sideroblastic, and spinocerebellar ataxia 11.2
43 telangiectasis 11.2
44 ceroid lipofuscinosis, neuronal, 2 11.2
45 idiopathic acute transverse myelitis 11.1
46 ceroid lipofuscinosis, neuronal, 5 11.1
47 amme complex 11.1
48 ceroid lipofuscinosis, neuronal, 6 11.1
49 parkinson disease 10 11.1
50 intermediate coronary syndrome 11.1

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



Diseases related to Ataxia-Telangiectasia

Symptoms & Phenotypes for Ataxia-Telangiectasia

Human phenotypes related to Ataxia-Telangiectasia:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
4 tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0001337
5 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
6 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
7 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
8 decreased antibody level in blood 60 33 hallmark (90%) Very frequent (99-80%) HP:0004313
9 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
10 mucosal telangiectasiae 60 33 hallmark (90%) Very frequent (99-80%) HP:0100579
11 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
12 polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0000147
13 lymphopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001888
14 abnormality of chromosome stability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003220
15 cellular immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0005374
16 aplasia/hypoplasia of the thymus 60 33 hallmark (90%) Very frequent (99-80%) HP:0010515
17 elevated hepatic transaminase 33 hallmark (90%) HP:0002910
18 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
19 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
20 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
21 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
22 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
23 neoplasm 60 33 frequent (33%) Frequent (79-30%) HP:0002664
24 hypopigmentation of hair 60 33 frequent (33%) Frequent (79-30%) HP:0005599
25 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
26 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
27 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
28 abnormality of the testis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000035
29 multiple cafe-au-lait spots 60 33 occasional (7.5%) Occasional (29-5%) HP:0007565
30 aplasia/hypoplasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008065
31 diabetes mellitus 60 33 Frequent (79-30%) HP:0000819
32 abnormality of eye movement 60 Very frequent (99-80%)
33 neurological speech impairment 60 Very frequent (99-80%)
34 immunodeficiency 60 Very frequent (99-80%)
35 abnormality of movement 60 Very frequent (99-80%)
36 sinusitis 33 HP:0000246
37 myoclonus 33 HP:0001336
38 glucose intolerance 33 HP:0001952
39 elevated hepatic transaminases 60 Very frequent (99-80%)
40 dystonia 33 HP:0001332
41 reduced tendon reflexes 33 HP:0001315
42 conjunctival telangiectasia 33 HP:0000524
43 abnormality of the immune system 60 Very frequent (99-80%)
44 prematurely aged appearance 60 Very frequent (99-80%)
45 hypoplasia of the thymus 33 HP:0000778
46 lymphoma 33 HP:0002665
47 choreoathetosis 33 HP:0001266
48 abnormality of the hair 33 HP:0001595
49 abnormal spermatogenesis 33 HP:0008669
50 elevated alpha-fetoprotein 33 HP:0006254

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
hypogonadism
impaired spermatogenesis

Respiratory Airways:
bronchiectasis
bronchitis

Skin Nails Hair Skin:
cafe-au-lait spots
cutaneous telangiectasia
progeric skin changes
sclerodermatous skin changes

Immunology:
thymus hypoplasia
normal numbers of b cells
defective b cell differentiation
lymphocytopenia
reduced numbers of t cells
more
Neurologic Central Nervous System:
seizures
tremor
myoclonus
dystonia
choreoathetosis
more
Head And Neck Head:
sinusitis

Genitourinary Internal Genitalia Female:
hypogonadism

Neoplasia:
hodgkin lymphoma
leukemia
non-hodgkin lymphoma
increased risk in heterozygotes

Skin Nails Hair Hair:
progeric hair changes

Laboratory Abnormalities:
increased levels of alpha fetoprotein
increased levels of carcinoembryonic antigen
reduced iga levels
reduced ige levels
reduced igg levels, particularly the igg2 subclass
more

Clinical features from OMIM:

208900

UMLS symptoms related to Ataxia-Telangiectasia:


seizures, tremor, myoclonus, back pain, pain, headache, syncope, chronic pain, sciatica, cerebellar ataxia, vertigo/dizziness, sleeplessness, cerebellar ataxia/dyskinesia

GenomeRNAi Phenotypes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

27 (show top 50) (show all 61)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.82 RPA2
2 Decreased viability GR00221-A-1 10.82 CHEK1 RPA2
3 Decreased viability GR00221-A-2 10.82 BRCA1 CHEK1 CHEK2 RPA2
4 Decreased viability GR00221-A-3 10.82 BRCA1 CHEK1 ATM CHEK2 RPA2
5 Decreased viability GR00221-A-4 10.82 CHEK1 ATM CHEK2
6 Decreased viability GR00240-S-1 10.82 CHEK1
7 Decreased viability GR00301-A 10.82 ATR BRCA1 CHEK1 RPA1
8 Decreased viability GR00342-S-2 10.82 CHEK2
9 Decreased viability GR00381-A-1 10.82 CHEK1
10 Decreased viability GR00402-S-2 10.82 ATR BRCA1 CHEK1 RPA1 ATM CHEK2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.77 ATM PRKDC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.77 DCLRE1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.77 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.77 CHEK1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.77 ATM CHEK2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.77 ATR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.77 CHEK2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.77 CHEK1 DCLRE1C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.77 ATM CHEK1 DCLRE1C
20 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.77 CHEK2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.77 CHEK1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.77 CHEK1 DCLRE1C
23 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.77 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.77 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.77 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.77 ATM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.77 ATM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.77 ATR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.77 CHEK1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.77 ATR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.77 ATR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.77 CHEK2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.77 ATM PRKDC
34 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.77 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.77 ATM PRKDC
36 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.77 CHEK1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.77 PRKDC
38 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.77 CHEK1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.77 CHEK1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.77 ATM
41 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.77 ATR
42 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.77 CHEK1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.77 PRKDC
44 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.77 ATM
45 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.77 ATM
46 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.77 ATM ATR CHEK1 CHEK2 DCLRE1C PRKDC
47 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.77 DCLRE1C
48 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.22 APTX ATM ATR BRCA1 CHEK1 CHEK2
49 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.04 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
50 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.04 ATM ATR BRCA1 CHEK1 CHEK2 MRE11

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 APTX ATM ATR BRCA1 CHEK1 CHEK2
2 endocrine/exocrine gland MP:0005379 10.27 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
3 hematopoietic system MP:0005397 10.22 ATM ATR BRCA1 CHEK2 DCLRE1C MRE11
4 growth/size/body region MP:0005378 10.21 ATM ATR BRCA1 DCLRE1C NBN NPAT
5 immune system MP:0005387 10.17 ATM ATR BRCA1 CHEK2 DCLRE1C MRE11
6 cardiovascular system MP:0005385 10.16 ATM ATR BRCA1 CHEK1 DCLRE1C MRE11
7 embryo MP:0005380 10.13 ATM ATR BRCA1 CHEK1 MRE11 NBN
8 homeostasis/metabolism MP:0005376 10.11 APTX ATM ATR BRCA1 CHEK2 MRE11
9 mortality/aging MP:0010768 10.1 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
10 adipose tissue MP:0005375 10.07 ATM ATR BRCA1 PCNA PRKDC TP53
11 neoplasm MP:0002006 9.93 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
12 reproductive system MP:0005389 9.44 ATM ATR BRCA1 CHEK1 MRE11 NBN
13 pigmentation MP:0001186 9.35 ATR BRCA1 PRKDC RAD50 TP53

Drugs & Therapeutics for Ataxia-Telangiectasia

Drugs for Ataxia-Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Mecasermin Approved, Investigational Phase 4 68562-41-4
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
8
Amantadine Approved Phase 4 768-94-5 2130
9 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
10 Adrenergic Agonists Phase 4
11 Contraceptive Agents Phase 4
12 Hormones Phase 4,Phase 3,Not Applicable
13 arginine Phase 4
14 Autonomic Agents Phase 4,Phase 3,Not Applicable
15 Adrenergic alpha-2 Receptor Agonists Phase 4
16 Neurotransmitter Agents Phase 4
17 Sympatholytics Phase 4
18 Adrenergic alpha-Agonists Phase 4
19 Hormone Antagonists Phase 4,Phase 3,Not Applicable
20 Insulin, Globin Zinc Phase 4
21 Estradiol 17 beta-cypionate Phase 4
22 Estradiol 3-benzoate Phase 4
23 insulin Phase 4
24 Adrenergic Agents Phase 4
25 Analgesics Phase 4
26 Antihypertensive Agents Phase 4
27 Mitogens Phase 4,Phase 2
28 Estrogens Phase 4
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
30 Hypoglycemic Agents Phase 4
31 Dopamine Agents Phase 4
32 Antiviral Agents Phase 4,Phase 1,Phase 2,Not Applicable
33 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
34 Antiparkinson Agents Phase 4
35 Analgesics, Non-Narcotic Phase 4
36
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Not Applicable 1177-87-3
37
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Not Applicable 50-02-2 5743
38
Prednisone Approved, Vet_approved Phase 3,Not Applicable 53-03-2 5865
39
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
40
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
41
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
42
Olaparib Approved Phase 3,Phase 2,Phase 1 763113-22-0 23725625
43
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
44
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
45
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
46 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
47 Immunologic Factors Phase 3,Phase 1,Phase 2,Not Applicable
48 Vaccines Phase 3
49 BB 1101 Phase 3,Not Applicable
50 Anti-Inflammatory Agents Phase 3,Not Applicable

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
5 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
6 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
7 Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer Recruiting NCT03732820 Phase 3 olaparib;abiraterone acetate
8 Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell Transplant Completed NCT00110045 Phase 2 caspofungin acetate
9 To Assess Safety and Efficacy of Agents Targeting DNA Damage Repair With Olaparib Versus Olaparib Monotherapy. Recruiting NCT03330847 Phase 2 Olaparib Continuous (28-Day cycle) 300 mg BD.;AZD6738 160 mg OD + olaparib continuous 300 mg BD (28-day cycle).;AZD1775 150 mg BD + olaparib 200 mg BD (21-day cycle).
10 A Study of AZD6738 and Acalabrutinib in Subjects With Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) Recruiting NCT03328273 Phase 1, Phase 2 AZD6738;acalabrutinib
11 9-ING-41 in Patients With Advanced Cancers Recruiting NCT03678883 Phase 1, Phase 2 9-ING-41;Gemcitabine - 21 day cycle;Doxorubicin.;Lomustine;Carboplatin.;Nab paclitaxel.;Paclitaxel.;Gemcitabine - 28 day cycle
12 Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer Patients Active, not recruiting NCT01063517 Phase 2 olaparib;paclitaxel;Placebo
13 N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T) Not yet recruiting NCT03759678 Phase 2 IB1001
14 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2 MK-4827
15 First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344
16 A Study to Investigate Biomarker Effects of Pre-Surgical Treatment With DNA Damage Repair (DDR) Agents in Patients With Head and Neck Squamous Cell Carcinoma (HNSCC). Recruiting NCT03022409 Phase 1 AZD6738;Olaparib
17 A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer Recruiting NCT03423628 Phase 1 AZD1390
18 ATRi Transition Rollover Study Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
19 AZD6738 & Gemcitabine as Combination Therapy Not yet recruiting NCT03669601 Phase 1 AZD6738;Gemcitabine
20 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
21 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348 Not Applicable
22 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
23 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200 Not Applicable
24 Susceptibility to Infections in Ataxia Telangiectasia Completed NCT02345135 Not Applicable
25 Study for Treatment of Cancer in Children With Ataxia-telangiectasia Completed NCT00187057 Not Applicable vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
26 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
27 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
28 The Use of Air Cleaners to Mitigate Cardiopulmonary Health Impact of Indoor Exposure to Particles and Phthalates Completed NCT03500614 Not Applicable
29 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia Recruiting NCT03357978 Not Applicable
30 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
31 Blood Markers of Early Pancreas Cancer Recruiting NCT03568630
32 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
33 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
34 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
35 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Terminated NCT02246491 Not Applicable
36 Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Terminated NCT02857894

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ataxia-Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia-Telangiectasia:
Renexus� (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Ataxia-Telangiectasia:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: ataxia telangiectasia

Genetic Tests for Ataxia-Telangiectasia

Genetic tests related to Ataxia-Telangiectasia:

# Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome 30 ATM
2 Ataxia-Telangiectasia Variant 30

Anatomical Context for Ataxia-Telangiectasia

MalaCards organs/tissues related to Ataxia-Telangiectasia:

42
Skin, Eye, T Cells, Brain, Breast, Lung, B Cells

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 1985)
# Title Authors Year
1
Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers. ( 30746633 )
2019
2
ATM mutation spectrum in Russian children with ataxia-telangiectasia. ( 30772474 )
2019
3
Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity. ( 30796268 )
2019
4
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations. ( 30819809 )
2019
5
Arecoline-regulated ataxia telangiectasia mutated expression level in oral cancer progression. ( 30821076 )
2019
6
"Optimization of potent and selective Ataxia Telangiectasia Mutated (ATM) inhibitors suitable for a proof-of-concept study in Huntington's disease models". ( 30840447 )
2019
7
Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome. ( 30854690 )
2019
8
NMR- and MD simulation-based structural characterization of the membrane-associating FATC domain of ataxia telangiectasia mutated. ( 30867195 )
2019
9
Ataxia-Telangiectasia Mutated is located in cardiac mitochondria and impacts oxidative phosphorylation. ( 30886180 )
2019
10
Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation. ( 30888062 )
2019
11
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. ( 30301590 )
2019
12
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. ( 30549301 )
2019
13
GSE4 peptide suppresses oxidative and telomere deficiencies in ataxia telangiectasia patient cells. ( 30670828 )
2019
14
DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients. ( 30679601 )
2019
15
Ataxia-telangiectasia: A review of clinical features and molecular pathology. ( 30685876 )
2019
16
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of Ataxia Telangiectasia mouse model. ( 30745336 )
2019
17
Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis? ( 29582093 )
2018
18
3F-Box protein 32 degrades ataxia telangiectasia and Rad3-related and regulates DNA damage response induced by gemcitabine in pancreatic cancer. ( 29805624 )
2018
19
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia. ( 29866155 )
2018
20
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
21
Atm reactivation reverses ataxia telangiectasia phenotypes in vivo. ( 29472706 )
2018
22
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature. ( 29600275 )
2018
23
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. ( 29489040 )
2018
24
B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients. ( 29739685 )
2018
25
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
26
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing. ( 29664460 )
2018
27
The Identification of Potent, Selective, and Orally Available Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase: The Discovery of AZD0156 (8-{6-[3-(Dimethylamino)propoxy]pyridin-3-yl}-3-methyl-1-(tetrahydro-2 H-pyran-4-yl)-1,3-dihydro-2 H-imidazo[4,5- c]quinolin-2-one). ( 29683659 )
2018
28
Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands. ( 29978608 )
2018
29
Ataxia telangiectasia mutated kinase deficiency impairs the autophagic response early during myocardial infarction. ( 29652546 )
2018
30
Ataxia-Telangiectasia Mutated Kinase in the Control of Oxidative Stress, Mitochondria, and Autophagy in Cancer: A Maestro With a Large Orchestra. ( 29616191 )
2018
31
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
32
Correction to Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 29969258 )
2018
33
Nuclear factor erythroid 2-related factor 2-antioxidant activation through the action of ataxia telangiectasia-mutated serine/threonine kinase is essential to counteract oxidative stress in bovine mammary epithelial cells. ( 29605311 )
2018
34
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome. ( 29620677 )
2018
35
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
36
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
37
Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone. ( 29608596 )
2018
38
Ataxia telangiectasia mutated kinase is an autophagic balancer at the onset of heart failure. ( 29750568 )
2018
39
Ataxia-Telangiectasia Mutated (ATM) Kinase Regulates eNOS Expression and Modulates Radiosensitivity in Endothelial Cells Exposed to Ionizing Radiation. ( 29474156 )
2018
40
<sup>1</sup> H,<sup>15</sup>N, and<sup>13</sup>C chemical shift assignments of the micelle immersed FAT C-terminal (FATC) domains of the human protein kinases ataxia-telangiectasia mutated (ATM) and DNA-dependent protein kinase catalytic subunit (DNA-PKcs) fused to the B1 domain of streptococcal protein G (GB1). ( 29349619 )
2018
41
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
42
Ataxia-telangiectasia gene (<i>ATM</i>) mutation heterozygosity in breast cancer: a narrative review. ( 29719442 )
2018
43
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
44
Neurovisual Assessment in Children with Ataxia Telangiectasia. ( 28992644 )
2018
45
Ataxia Telangiectasia Mutated Protein Loss and Benefit From Oxaliplatin-based Chemotherapy in Colorectal Cancer. ( 30042009 )
2018
46
Retroperitoneal extramedullary hematopoietic pseudotumor in ataxia-telangiectasia. ( 30046399 )
2018
47
PATRIOT: A phase I study to assess the tolerability, safety and biological effects of a specific ataxia telangiectasia and Rad3-related (ATR) inhibitor (AZD6738) as a single agent and in combination with palliative radiation therapy in patients with solid tumours. ( 30073210 )
2018
48
Ataxia telangiectasia mutated deficiency does not result in genetic susceptibility to 50 Hz magnetic fields exposure in mouse embryonic fibroblasts. ( 30091795 )
2018
49
Secondary enuresis and urological manifestations in children with ataxia telangiectasia. ( 30100180 )
2018
50
Palbociclib enhances radiosensitivity of hepatocellular carcinoma and cholangiocarcinoma via inhibiting ataxia telangiectasia-mutated kinase-mediated DNA damage response. ( 30103095 )
2018

Variations for Ataxia-Telangiectasia

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

76 (show all 44)
# Symbol AA change Variation ID SNP ID
1 ATM p.Pro292Leu VAR_010802 rs747727055
2 ATM p.Ile323Val VAR_010803 rs587781511
3 ATM p.Phe570Ser VAR_010808 rs777301065
4 ATM p.Asn768Asp VAR_010812
5 ATM p.Arg785Cys VAR_010813 rs587778065
6 ATM p.Leu950Arg VAR_010815 rs786203054
7 ATM p.Leu1001Gln VAR_010816
8 ATM p.His1082Leu VAR_010819
9 ATM p.Glu1091Asp VAR_010820
10 ATM p.Leu1420Pro VAR_010823
11 ATM p.Leu1465Pro VAR_010826 rs730881391
12 ATM p.Pro1566Arg VAR_010827
13 ATM p.Thr1743Ile VAR_010831 rs587779844
14 ATM p.Val1913Gly VAR_010836 rs106050168
15 ATM p.Asp2016Gly VAR_010838 rs587781302
16 ATM p.Gly2063Glu VAR_010839 rs866290641
17 ATM p.Ala2067Asp VAR_010840 rs397514577
18 ATM p.Ser2218Cys VAR_010844
19 ATM p.Arg2227Cys VAR_010846 rs564652222
20 ATM p.Val2424Gly VAR_010854 rs28904921
21 ATM p.Tyr2470Asp VAR_010858 rs876659365
22 ATM p.Trp2491Arg VAR_010860
23 ATM p.His2554Asp VAR_010862
24 ATM p.Asp2625Gln VAR_010863
25 ATM p.Leu2656Pro VAR_010865 rs121434218
26 ATM p.Ile2702Arg VAR_010870 rs876659735
27 ATM p.Ala2726Val VAR_010874
28 ATM p.Cys2824Tyr VAR_010878 rs876660927
29 ATM p.Phe2827Cys VAR_010879 rs121434216
30 ATM p.Pro2829Leu VAR_010880 rs938431501
31 ATM p.Arg2832Cys VAR_010881 rs587779872
32 ATM p.Arg2849Pro VAR_010882 rs587782202
33 ATM p.Ser2855Arg VAR_010883 rs780905851
34 ATM p.Gly2867Arg VAR_010886
35 ATM p.Glu2904Gly VAR_010889 rs786202826
36 ATM p.Arg2909Gly VAR_010890
37 ATM p.Arg3008Cys VAR_010893 rs587782292
38 ATM p.Leu1046Pro VAR_077237 rs568461905
39 ATM p.Gly2023Arg VAR_077238 rs11212587
40 ATM p.Leu2068Ser VAR_077239
41 ATM p.Tyr2080Asp VAR_077240 rs106479546
42 ATM p.Tyr2627His VAR_077241
43 ATM p.Phe2834Leu VAR_077242
44 ATM p.Asn3003Asp VAR_077243 rs1137889

ClinVar genetic disease variations for Ataxia-Telangiectasia:

6 (show top 50) (show all 7082)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs730881359 GRCh38 Chromosome 11, 108227625: 108227625
2 ATM NM_000051.3(ATM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs730881359 GRCh37 Chromosome 11, 108098352: 108098352
3 ATM NM_000051.3(ATM): c.76G> C (p.Glu26Gln) single nucleotide variant Uncertain significance rs730881361 GRCh38 Chromosome 11, 108227779: 108227779
4 ATM NM_000051.3(ATM): c.76G> C (p.Glu26Gln) single nucleotide variant Uncertain significance rs730881361 GRCh37 Chromosome 11, 108098506: 108098506
5 ATM NM_000051.3(ATM): c.95G> A (p.Arg32His) single nucleotide variant Uncertain significance rs368161489 GRCh38 Chromosome 11, 108227798: 108227798
6 ATM NM_000051.3(ATM): c.95G> A (p.Arg32His) single nucleotide variant Uncertain significance rs368161489 GRCh37 Chromosome 11, 108098525: 108098525
7 ATM NM_000051.3(ATM): c.237delA (p.Lys79Asnfs) deletion Pathogenic/Likely pathogenic rs730881303 GRCh38 Chromosome 11, 108229229: 108229229
8 ATM NM_000051.3(ATM): c.237delA (p.Lys79Asnfs) deletion Pathogenic/Likely pathogenic rs730881303 GRCh37 Chromosome 11, 108099956: 108099956
9 ATM NM_000051.3(ATM): c.283C> A (p.Gln95Lys) single nucleotide variant Uncertain significance rs587781545 GRCh38 Chromosome 11, 108229275: 108229275
10 ATM NM_000051.3(ATM): c.283C> A (p.Gln95Lys) single nucleotide variant Uncertain significance rs587781545 GRCh37 Chromosome 11, 108100002: 108100002
11 ATM NM_000051.3(ATM): c.322G> A (p.Ala108Thr) single nucleotide variant Uncertain significance rs730881370 GRCh38 Chromosome 11, 108229314: 108229314
12 ATM NM_000051.3(ATM): c.322G> A (p.Ala108Thr) single nucleotide variant Uncertain significance rs730881370 GRCh37 Chromosome 11, 108100041: 108100041
13 ATM NM_000051.3(ATM): c.368delA (p.Tyr123Leufs) deletion Pathogenic rs730881296 GRCh38 Chromosome 11, 108235706: 108235706
14 ATM NM_000051.3(ATM): c.368delA (p.Tyr123Leufs) deletion Pathogenic rs730881296 GRCh37 Chromosome 11, 108106433: 108106433
15 ATM NM_000051.3(ATM): c.398A> T (p.Asn133Ile) single nucleotide variant Uncertain significance rs730881330 GRCh38 Chromosome 11, 108235736: 108235736
16 ATM NM_000051.3(ATM): c.398A> T (p.Asn133Ile) single nucleotide variant Uncertain significance rs730881330 GRCh37 Chromosome 11, 108106463: 108106463
17 ATM NM_000051.3(ATM): c.518G> T (p.Arg173Met) single nucleotide variant Uncertain significance rs372694758 GRCh38 Chromosome 11, 108243974: 108243974
18 ATM NM_000051.3(ATM): c.518G> T (p.Arg173Met) single nucleotide variant Uncertain significance rs372694758 GRCh37 Chromosome 11, 108114701: 108114701
19 ATM NM_000051.3(ATM): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs730881333 GRCh38 Chromosome 11, 108243994: 108243994
20 ATM NM_000051.3(ATM): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs730881333 GRCh37 Chromosome 11, 108114721: 108114721
21 ATM NM_000051.3(ATM): c.539A> G (p.Gln180Arg) single nucleotide variant Uncertain significance rs730881334 GRCh38 Chromosome 11, 108243995: 108243995
22 ATM NM_000051.3(ATM): c.539A> G (p.Gln180Arg) single nucleotide variant Uncertain significance rs730881334 GRCh37 Chromosome 11, 108114722: 108114722
23 ATM NM_000051.3(ATM): c.549_550delTA (p.His183Glnfs) deletion Pathogenic rs730881297 GRCh38 Chromosome 11, 108244005: 108244006
24 ATM NM_000051.3(ATM): c.549_550delTA (p.His183Glnfs) deletion Pathogenic rs730881297 GRCh37 Chromosome 11, 108114732: 108114733
25 ATM NM_000051.3(ATM): c.742C> T (p.Arg248Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881336 GRCh38 Chromosome 11, 108244867: 108244867
26 ATM NM_000051.3(ATM): c.742C> T (p.Arg248Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881336 GRCh37 Chromosome 11, 108115594: 108115594
27 ATM NM_000051.3(ATM): c.811C> A (p.Leu271Ile) single nucleotide variant Uncertain significance rs730881339 GRCh38 Chromosome 11, 108244936: 108244936
28 ATM NM_000051.3(ATM): c.811C> A (p.Leu271Ile) single nucleotide variant Uncertain significance rs730881339 GRCh37 Chromosome 11, 108115663: 108115663
29 ATM NM_000051.3(ATM): c.1019C> G (p.Ala340Gly) single nucleotide variant Uncertain significance rs730881387 GRCh38 Chromosome 11, 108247081: 108247081
30 ATM NM_000051.3(ATM): c.1019C> G (p.Ala340Gly) single nucleotide variant Uncertain significance rs730881387 GRCh37 Chromosome 11, 108117808: 108117808
31 ATM NM_000051.3(ATM): c.1080T> G (p.Asp360Glu) single nucleotide variant Uncertain significance rs199869975 GRCh38 Chromosome 11, 108248947: 108248947
32 ATM NM_000051.3(ATM): c.1080T> G (p.Asp360Glu) single nucleotide variant Uncertain significance rs199869975 GRCh37 Chromosome 11, 108119674: 108119674
33 ATM NM_000051.3(ATM): c.1210C> G (p.Gln404Glu) single nucleotide variant Uncertain significance rs730881340 GRCh38 Chromosome 11, 108249077: 108249077
34 ATM NM_000051.3(ATM): c.1210C> G (p.Gln404Glu) single nucleotide variant Uncertain significance rs730881340 GRCh37 Chromosome 11, 108119804: 108119804
35 ATM NM_000051.3(ATM): c.1671G> A (p.Met557Ile) single nucleotide variant Uncertain significance rs730881341 GRCh38 Chromosome 11, 108251900: 108251900
36 ATM NM_000051.3(ATM): c.1671G> A (p.Met557Ile) single nucleotide variant Uncertain significance rs730881341 GRCh37 Chromosome 11, 108122627: 108122627
37 ATM NM_000051.3(ATM): c.1727T> C (p.Ile576Thr) single nucleotide variant Uncertain significance rs730881342 GRCh38 Chromosome 11, 108251956: 108251956
38 ATM NM_000051.3(ATM): c.1727T> C (p.Ile576Thr) single nucleotide variant Uncertain significance rs730881342 GRCh37 Chromosome 11, 108122683: 108122683
39 ATM NM_000051.3(ATM): c.1748A> G (p.Tyr583Cys) single nucleotide variant Uncertain significance rs587780614 GRCh38 Chromosome 11, 108251977: 108251977
40 ATM NM_000051.3(ATM): c.1748A> G (p.Tyr583Cys) single nucleotide variant Uncertain significance rs587780614 GRCh37 Chromosome 11, 108122704: 108122704
41 ATM NM_000051.3(ATM): c.1792A> G (p.Ile598Val) single nucleotide variant Uncertain significance rs730881343 GRCh38 Chromosome 11, 108252021: 108252021
42 ATM NM_000051.3(ATM): c.1792A> G (p.Ile598Val) single nucleotide variant Uncertain significance rs730881343 GRCh37 Chromosome 11, 108122748: 108122748
43 ATM NM_000051.3(ATM): c.1837G> T (p.Val613Leu) single nucleotide variant Uncertain significance rs200124136 GRCh38 Chromosome 11, 108252851: 108252851
44 ATM NM_000051.3(ATM): c.1837G> T (p.Val613Leu) single nucleotide variant Uncertain significance rs200124136 GRCh37 Chromosome 11, 108123578: 108123578
45 ATM NM_000051.3(ATM): c.1953A> G (p.Leu651=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881283 GRCh38 Chromosome 11, 108253868: 108253868
46 ATM NM_000051.3(ATM): c.1953A> G (p.Leu651=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881283 GRCh37 Chromosome 11, 108124595: 108124595
47 ATM NM_000051.3(ATM): c.2096A> G (p.Glu699Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147934285 GRCh38 Chromosome 11, 108254011: 108254011
48 ATM NM_000051.3(ATM): c.2096A> G (p.Glu699Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs147934285 GRCh37 Chromosome 11, 108124738: 108124738
49 ATM NM_000051.3(ATM): c.2159G> A (p.Arg720His) single nucleotide variant Uncertain significance rs55830714 GRCh38 Chromosome 11, 108256249: 108256249
50 ATM NM_000051.3(ATM): c.2159G> A (p.Arg720His) single nucleotide variant Uncertain significance rs55830714 GRCh37 Chromosome 11, 108126976: 108126976

Expression for Ataxia-Telangiectasia

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

Pathways for Ataxia-Telangiectasia

Pathways related to Ataxia-Telangiectasia according to KEGG:

38
# Name Kegg Source Accession
1 Homologous recombination hsa03440
2 Cell cycle hsa04110
3 Cellular senescence hsa04218

Pathways related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
2
Show member pathways
13.56 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
3
Show member pathways
13.34 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
4
Show member pathways
13.22 ATM ATR MRE11 NBN RAD50 RPA1
5
Show member pathways
13.15 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
6
Show member pathways
13.09 ATM ATR BRCA1 CHEK2 MRE11 NBN
7
Show member pathways
12.91 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
8 12.88 APTX ATM ATR BRCA1 CHEK1 CHEK2
9
Show member pathways
12.78 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
10
Show member pathways
12.69 ATM ATR BRCA1 MRE11 NBN RAD50
11
Show member pathways
12.62 BRCA1 PCNA RPA1 TP53 TP53BP1
12
Show member pathways
12.6 ATM PCNA RPA1 RPA2 TP53
13
Show member pathways
12.6 ATM BRCA1 CHEK2 DCLRE1C MRE11 NBN
14 12.55 ATM ATR CHEK1 CHEK2 PCNA PRKDC
15
Show member pathways
12.51 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
16
Show member pathways
12.5 ATM ATR CHEK1 CHEK2 TP53
17
Show member pathways
12.49 ATM ATR BRCA1 CHEK1 MRE11 NBN
18 12.48 ATM ATR CHEK1 CHEK2 PCNA TP53
19
Show member pathways
12.45 ATR CHEK1 PCNA RPA1 RPA2
20
Show member pathways
12.45 ATM ATR BRCA1 CHEK1 CHEK2 PRKDC
21
Show member pathways
12.42 ATM MRE11 NBN RAD50 TP53
22 12.38 ATM ATR CHEK1 CHEK2 MRE11 NBN
23 12.36 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
24
Show member pathways
12.34 ATM BRCA1 MRE11 NBN RAD50 RPA1
25
Show member pathways
12.23 ATM ATR RPA1 RPA2
26 12.07 CHEK1 NPAT PCNA PRKDC RPA1 RPA2
27
Show member pathways
11.95 PCNA RPA1 RPA2
28 11.95 ATR BRCA1 RPA1 RPA2
29
Show member pathways
11.91 ATM BRCA1 CHEK1 CHEK2 MRE11 NBN
30 11.9 ATM BRCA1 CHEK1 CHEK2 PRKDC TP53
31
Show member pathways
11.87 PCNA RPA1 RPA2
32 11.82 ATM ATR CHEK1 CHEK2 TP53
33 11.81 ATM ATR BRCA1 CHEK2 MRE11 NBN
34 11.79 ATM MRE11 NBN RAD50
35 11.74 ATM BRCA1 TP53
36
Show member pathways
11.73 ATM CHEK2 TP53
37 11.73 ATM ATR CHEK1 CHEK2 DCLRE1C MRE11
38
Show member pathways
11.73 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
39
Show member pathways
11.69 ATM ATR CHEK1 CHEK2 TP53
40 11.54 ATM ATR BRCA1 PCNA TP53
41 11.42 BRCA1 DCLRE1C MRE11 NBN PRKDC RAD50
42 11.37 ATM ATR BRCA1 MRE11 NBN PCNA
43 11.36 ATM ATR CHEK1 CHEK2 PRKDC
44 11.23 ATM ATR BRCA1 TP53
45
Show member pathways
11.2 MRE11 NBN RAD50
46 11.2 ATM ATR BRCA1 CHEK1 CHEK2 NBN
47
Show member pathways
11.15 ATM MRE11 NBN RAD50
48 10.89 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
49 10.85 ATR CHEK1
50 10.39 CHEK2 TP53

GO Terms for Ataxia-Telangiectasia

Cellular components related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.97 ATR BRCA1 MRE11 NBN RAD50 TP53BP1
2 nuclear body GO:0016604 9.84 PCNA RPA2 TP53 TP53BP1
3 PML body GO:0016605 9.8 ATR CHEK2 MRE11 NBN RPA1 RPA2
4 condensed nuclear chromosome GO:0000794 9.78 BRCA1 CHEK1 RAD50 RPA2
5 chromatin GO:0000785 9.73 APTX CHEK1 PCNA RPA2
6 site of double-strand break GO:0035861 9.72 MRE11 NBN RAD50 RPA2 TP53BP1
7 replication fork GO:0005657 9.71 CHEK1 NBN PCNA TP53BP1
8 Mre11 complex GO:0030870 9.63 MRE11 NBN RAD50
9 chromosome, telomeric region GO:0000781 9.56 ATM CHEK1 CHEK2 MRE11 NBN RAD50
10 DNA replication factor A complex GO:0005662 9.55 RPA1 RPA2
11 nonhomologous end joining complex GO:0070419 9.52 DCLRE1C PRKDC
12 DNA repair complex GO:1990391 9.51 ATM TP53BP1
13 nuclear chromosome, telomeric region GO:0000784 9.36 ATM ATR DCLRE1C MRE11 NBN PCNA
14 nucleus GO:0005634 10.32 APTX ATM ATR BRCA1 CHEK1 CHEK2
15 nucleoplasm GO:0005654 10.09 APTX ATM ATR BRCA1 CHEK1 CHEK2

Biological processes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.99 APTX DCLRE1C MRE11 RAD50
2 meiotic cell cycle GO:0051321 9.98 MRE11 NBN RAD50 RPA1
3 double-strand break repair via homologous recombination GO:0000724 9.97 BRCA1 MRE11 NBN RAD50 RPA1 RPA2
4 double-strand break repair GO:0006302 9.97 APTX BRCA1 CHEK2 DCLRE1C MRE11 NBN
5 regulation of signal transduction by p53 class mediator GO:1901796 9.93 ATM CHEK1 CHEK2 TP53
6 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.92 ATM CHEK2 PCNA TP53
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.92 ATM BRCA1 CHEK2 PRKDC
8 double-strand break repair via nonhomologous end joining GO:0006303 9.92 ATM BRCA1 DCLRE1C MRE11 NBN PRKDC
9 interstrand cross-link repair GO:0036297 9.91 ATR DCLRE1C RPA1 RPA2
10 response to ionizing radiation GO:0010212 9.9 ATM BRCA1 DCLRE1C PRKDC
11 transcription-coupled nucleotide-excision repair GO:0006283 9.89 PCNA RPA1 RPA2
12 DNA duplex unwinding GO:0032508 9.89 MRE11 NBN RAD50
13 regulation of cellular response to heat GO:1900034 9.89 ATM ATR RPA1 RPA2
14 cellular response to UV GO:0034644 9.88 ATR PCNA TP53
15 nucleotide-excision repair GO:0006289 9.88 RPA1 RPA2 TP53
16 DNA damage checkpoint GO:0000077 9.88 ATM ATR CHEK1 CHEK2 NBN TP53BP1
17 DNA damage response, detection of DNA damage GO:0042769 9.87 PCNA RPA1 RPA2
18 nucleotide-excision repair, DNA incision GO:0033683 9.87 PCNA RPA1 RPA2
19 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.87 PCNA RPA1 RPA2
20 translesion synthesis GO:0019985 9.86 PCNA RPA1 RPA2
21 reciprocal meiotic recombination GO:0007131 9.86 ATM MRE11 RAD50 RPA2
22 mismatch repair GO:0006298 9.85 PCNA RPA1 RPA2
23 response to gamma radiation GO:0010332 9.85 CHEK2 PRKDC TP53
24 telomere capping GO:0016233 9.85 NBN PRKDC RAD50
25 DNA double-strand break processing GO:0000729 9.85 ATM BRCA1 MRE11 NBN RAD50
26 cellular response to gamma radiation GO:0071480 9.84 ATM ATR CHEK2 TP53
27 nucleotide-excision repair, DNA gap filling GO:0006297 9.83 PCNA RPA1 RPA2
28 positive regulation of protein autophosphorylation GO:0031954 9.83 MRE11 NBN RAD50
29 error-free translesion synthesis GO:0070987 9.83 PCNA RPA1 RPA2
30 replicative senescence GO:0090399 9.83 ATM ATR CHEK1 CHEK2 TP53
31 error-prone translesion synthesis GO:0042276 9.82 PCNA RPA1 RPA2
32 positive regulation of kinase activity GO:0033674 9.82 MRE11 NBN RAD50
33 telomere maintenance via semi-conservative replication GO:0032201 9.81 PCNA RPA1 RPA2
34 telomere maintenance via telomerase GO:0007004 9.81 MRE11 RAD50 RPA1 RPA2
35 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.8 BRCA1 CHEK2 TP53
36 positive regulation of telomere maintenance GO:0032206 9.79 MRE11 NBN RAD50
37 DNA damage induced protein phosphorylation GO:0006975 9.76 ATM CHEK1 CHEK2
38 base-excision repair GO:0006284 9.75 RPA1 RPA2 TP53
39 mitotic G2 DNA damage checkpoint GO:0007095 9.73 MRE11 NBN
40 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.73 NBN TP53
41 positive regulation of protein oligomerization GO:0032461 9.73 TCL1A TP53
42 signal transduction in response to DNA damage GO:0042770 9.73 CHEK2 NBN
43 DNA unwinding involved in DNA replication GO:0006268 9.73 RPA1 RPA2
44 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.73 ATM ATR
45 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.72 BRCA1 CHEK1
46 telomere maintenance via recombination GO:0000722 9.72 RAD50 RPA2
47 cellular response to X-ray GO:0071481 9.72 ATM TP53BP1
48 V(D)J recombination GO:0033151 9.72 DCLRE1C PRKDC
49 negative regulation of telomere capping GO:1904354 9.72 ATM NBN RAD50
50 mitotic G1 DNA damage checkpoint GO:0031571 9.71 RPA2 TP53

Molecular functions related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.93 ATM ATR CHEK1 CHEK2 PRKDC
2 nucleotide binding GO:0000166 9.91 ATM ATR CHEK1 CHEK2 RAD50
3 ubiquitin protein ligase binding GO:0031625 9.88 BRCA1 CHEK2 RPA2 TP53
4 enzyme binding GO:0019899 9.88 BRCA1 PCNA PRKDC RPA2 TP53
5 single-stranded DNA binding GO:0003697 9.77 APTX RPA1 RPA2
6 double-stranded DNA binding GO:0003690 9.73 APTX MRE11 PRKDC RPA2
7 p53 binding GO:0002039 9.72 TP53 TP53BP1 TRIM29
8 5'-3' exonuclease activity GO:0008409 9.58 DCLRE1C MRE11
9 ATP-dependent DNA helicase activity GO:0004003 9.58 MRE11 NBN RAD50
10 G-rich strand telomeric DNA binding GO:0098505 9.57 RPA1 RPA2
11 MutLalpha complex binding GO:0032405 9.52 ATR PCNA
12 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.5 DCLRE1C MRE11 RAD50
13 DNA-dependent protein kinase activity GO:0004677 9.46 ATM PRKDC
14 protein N-terminus binding GO:0047485 9.43 APTX ATM NBN NPAT RPA2 TP53
15 double-stranded telomeric DNA binding GO:0003691 9.26 RAD50
16 damaged DNA binding GO:0003684 9.23 APTX BRCA1 DCLRE1C NBN PCNA RPA1
17 single-stranded telomeric DNA binding GO:0043047 9.16 RAD50 RPA1
18 protein binding GO:0005515 10.35 APTX ATM ATR BRCA1 CHEK1 CHEK2
19 ATP binding GO:0005524 10.14 ATM ATR CHEK1 CHEK2 PRKDC RAD50
20 identical protein binding GO:0042802 10.04 BRCA1 CHEK2 MRE11 PCNA TCL1A TP53
21 DNA binding GO:0003677 10.03 APTX ATM ATR BRCA1 MRE11 PCNA

Sources for Ataxia-Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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