MCID: ATX030
MIFTS: 80

Ataxia-Telangiectasia

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

Aliases & Classifications for Ataxia-Telangiectasia

MalaCards integrated aliases for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 53 23 24 55 71 13 37
Ataxia Telangiectasia 37 12 72 49 50 71 36 51 40 41 14 69
Louis-Bar Syndrome 53 49 24 55 71
Ataxia-Telangiectasia Variant 55 28 69
at 53 49 71
At1 53 71
Immunodeficiency with Ataxia Telangiectasia 49
Telangiectasia, Cerebello-Oculocutaneous 24
Cerebello-Oculocutaneous Telangiectasia 49
Ataxia Telangiectasia Syndrome 24
Ataxia-Telangiectasia Syndrome 28
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 55
a-T 24
Atm 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia

NINDS : 50 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 ataxia, seizures and tremor. 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 eye, skin and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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. Last updated: 4/5/2016

MedlinePlus : 40 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

Genetics Home Reference : 24 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.

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 221)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 34.6 MRE11 NBN
2 nijmegen breakage syndrome 32.1 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
3 li-fraumeni syndrome 2 30.3 CHEK2 TP53
4 xeroderma pigmentosum, variant type 30.1 RPA1 RPA2 TP53
5 bilateral breast cancer 30.1 ATM BRCA1 CHEK2
6 artemis deficiency 29.5 DCLRE1C H2AFX PRKDC
7 li-fraumeni syndrome 28.9 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
8 breast cancer 28.8 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
9 fanconi anemia, complementation group a 28.7 ATM BRCA1 CHEK1 H2AFX MRE11 NBN
10 ataxia-telangiectasia-like disorder 2 12.4
11 ataxia-telangiectasia with generalized skin pigmentation and early death 12.1
12 menarche, age at, quantitative trait locus 1 12.0
13 menopause, natural, age at, quantitative trait locus 1 11.9
14 menopause, natural, age at, quantitative trait locus 2 11.9
15 menopause, natural, age at, quantitative trait locus 4 11.9
16 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.9
17 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
18 ear antitragus, tag at base of 11.8
19 teeth present at birth 11.8
20 menarche, age at, quantitative trait locus 2 11.8
21 menarche, age at, quantitative trait locus 3 11.8
22 pulmonary fungal infections in patients deemed at risk 11.8
23 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
24 arterial tortuosity syndrome 11.7
25 antithrombin iii deficiency 11.6
26 ceroid lipofuscinosis, neuronal, 1 11.6
27 andersen cardiodysrhythmic periodic paralysis 11.5
28 ocular motor apraxia 11.4
29 ataxia and polyneuropathy, adult-onset 11.3
30 cerebellar hypoplasia 11.1
31 anemia, sideroblastic, and spinocerebellar ataxia 11.1
32 leukemia 10.5
33 lymphoma 10.5
34 lung cancer 10.4
35 brca1 hereditary breast and ovarian cancer syndrome 10.3 BRCA1 NBN
36 nijmegen breakage syndrome-like disorder 10.3 MRE11 RAD50
37 breast-ovarian cancer, familial 1 10.3 BRCA1 NBN
38 aging 10.3
39 lymphoblastic leukemia 10.3
40 synchronous bilateral breast carcinoma 10.3 ATM BRCA1 TP53
41 uterine corpus serous adenocarcinoma 10.3 BRCA1 TP53
42 lymphoma, hodgkin, classic 10.3
43 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3
44 neuronitis 10.3
45 squamous cell carcinoma of the larynx 10.2 PCNA TP53
46 myxosarcoma 10.2 ATM BRCA1 TP53
47 bloom syndrome 10.2
48 gastric cancer 10.2
49 dystonia 10.2
50 actinic cheilitis 10.2 CDKN1A TP53

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



Diseases related to Ataxia-Telangiectasia

Symptoms & Phenotypes for Ataxia-Telangiectasia

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
myoclonus
tremor
cerebellar ataxia
dystonia
more
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
Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

Head And Neck Head:
sinusitis

Genitourinary Internal Genitalia Female:
hypogonadism

Neoplasia:
leukemia
hodgkin lymphoma
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

Human phenotypes related to Ataxia-Telangiectasia:

55 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
3 tremor 55 31 hallmark (90%) Very frequent (99-80%) HP:0001337
4 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 diabetes mellitus 55 31 Frequent (79-30%) HP:0000819
6 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
7 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
8 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
9 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
10 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
11 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
12 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
13 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
14 delayed puberty 55 31 hallmark (90%) Very frequent (99-80%) HP:0000823
15 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
16 neoplasm 55 31 frequent (33%) Frequent (79-30%) HP:0002664
17 strabismus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000486
18 elevated hepatic transaminases 55 31 hallmark (90%) Very frequent (99-80%) HP:0002910
19 decreased antibody level in blood 55 31 hallmark (90%) Very frequent (99-80%) HP:0004313
20 premature graying of hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002216
21 hypopigmentation of hair 55 31 frequent (33%) Frequent (79-30%) HP:0005599
22 mucosal telangiectasiae 55 31 hallmark (90%) Very frequent (99-80%) HP:0100579
23 telangiectasia of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0100585
24 abnormality of the testis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000035
25 polycystic ovaries 55 31 hallmark (90%) Very frequent (99-80%) HP:0000147
26 lymphopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001888
27 abnormality of chromosome stability 55 31 hallmark (90%) Very frequent (99-80%) HP:0003220
28 cellular immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0005374
29 multiple cafe-au-lait spots 55 31 occasional (7.5%) Occasional (29-5%) HP:0007565
30 aplasia/hypoplasia of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0008065
31 aplasia/hypoplasia of the thymus 55 31 hallmark (90%) Very frequent (99-80%) HP:0010515
32 myoclonus 31 HP:0001336
33 dystonia 31 HP:0001332
34 abnormality of eye movement 55 Very frequent (99-80%)
35 neurological speech impairment 55 Very frequent (99-80%)
36 immunodeficiency 55 Very frequent (99-80%)
37 abnormality of movement 55 Very frequent (99-80%)
38 sinusitis 31 HP:0000246
39 glucose intolerance 31 HP:0000833
40 reduced tendon reflexes 31 HP:0001315
41 conjunctival telangiectasia 31 HP:0000524
42 abnormality of the immune system 55 Very frequent (99-80%)
43 prematurely aged appearance 55 Very frequent (99-80%)
44 hypoplasia of the thymus 31 HP:0000778
45 abnormality of the hair 31 HP:0001595
46 abnormal spermatogenesis 31 HP:0008669
47 elevated alpha-fetoprotein 31 HP:0006254
48 bronchiectasis 31 HP:0002110
49 choreoathetosis 31 HP:0001266
50 iga deficiency 31 HP:0002720

UMLS symptoms related to Ataxia-Telangiectasia:


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

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

25 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.7 ATM PRKDC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.7 DCLRE1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.7 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.7 CHEK1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.7 ATM CHEK2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.7 ATR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.7 CHEK2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.7 CHEK1 DCLRE1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.7 CHEK1 ATM DCLRE1C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.7 CHEK2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.7 CHEK1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.7 CHEK1 DCLRE1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.7 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.7 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.7 CHEK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.7 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.7 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.7 ATR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.7 ATR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.7 ATR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.7 CHEK2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.7 ATM PRKDC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.7 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.7 ATM PRKDC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.7 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.7 PRKDC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.7 CHEK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.7 CHEK1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.7 ATR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.7 CHEK1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.7 PRKDC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.7 ATM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.7 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.7 CHEK1 ATM CHEK2 DCLRE1C ATR PRKDC
35 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.7 DCLRE1C
36 Decreased viability GR00106-A-0 10.68 RPA2
37 Decreased viability GR00221-A-1 10.68 CHEK1 RPA2
38 Decreased viability GR00221-A-2 10.68 BRCA1 CHEK1 RPA2 CHEK2
39 Decreased viability GR00221-A-3 10.68 BRCA1 CHEK1 RPA2 ATM CHEK2
40 Decreased viability GR00221-A-4 10.68 CHEK1 ATM CHEK2
41 Decreased viability GR00240-S-1 10.68 CHEK1
42 Decreased viability GR00301-A 10.68 ATR BRCA1 CHEK1 RPA1
43 Decreased viability GR00342-S-2 10.68 CHEK2
44 Decreased viability GR00381-A-1 10.68 CHEK1
45 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 PRKDC RAD50 RPA1 RPA2 TP53 TP53BP1
46 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.1 RAD50 RPA1 TP53 TP53BP1 ATM ATR
47 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.1 RAD50 RPA1 TP53 TP53BP1 ATM ATR
48 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.91 CHEK2 PRKDC ATM ATR CHEK1
49 Increased cell death HMECs cells GR00103-A-0 9.85 ATR BRCA1 CHEK1 PCNA PRKDC TP53
50 Decreased viability after gemcitabine stimulation GR00107-A-2 9.76 ATM ATR CHEK1 PRKDC

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 APTX ATM ATR BRCA1 CDKN1A CHEK1
2 endocrine/exocrine gland MP:0005379 10.39 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3 hematopoietic system MP:0005397 10.35 CDKN1A CHEK2 DCLRE1C H2AFX MRE11 NBN
4 immune system MP:0005387 10.34 RPA1 TP53 TP53BP1 ATM ATR BRCA1
5 growth/size/body region MP:0005378 10.31 ATM ATR BRCA1 CDKN1A H2AFX NBN
6 homeostasis/metabolism MP:0005376 10.3 APTX ATM ATR BRCA1 CDKN1A CHEK2
7 mortality/aging MP:0010768 10.27 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
8 cardiovascular system MP:0005385 10.25 ATR BRCA1 CDKN1A CHEK1 H2AFX MRE11
9 embryo MP:0005380 10.22 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
10 neoplasm MP:0002006 10.17 TP53 TP53BP1 ATM ATR BRCA1 CDKN1A
11 adipose tissue MP:0005375 10.16 ATM ATR BRCA1 CDKN1A PCNA PRKDC
12 integument MP:0010771 10.01 ATM ATR BRCA1 CDKN1A CHEK1 PRKDC
13 nervous system MP:0003631 10 NPAT PRKDC RAD50 TP53 ATM ATR
14 reproductive system MP:0005389 9.8 RAD50 TP53 TP53BP1 ATM ATR BRCA1
15 pigmentation MP:0001186 9.55 ATR BRCA1 PRKDC RAD50 TP53
16 respiratory system MP:0005388 9.17 TP53 ATR BRCA1 CDKN1A NPAT PRKDC

Drugs & Therapeutics for Ataxia-Telangiectasia

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

(show top 50) (show all 104)
# 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
Metformin Approved Phase 4 657-24-9 4091 14219
4
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
5
Amantadine Approved Phase 4 768-94-5 2130
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7 Adrenergic Agents Phase 4
8 Adrenergic Agonists Phase 4
9 Adrenergic alpha-2 Receptor Agonists Phase 4
10 Adrenergic alpha-Agonists Phase 4
11 Analgesics Phase 4
12 Antihypertensive Agents Phase 4
13 Autonomic Agents Phase 4,Phase 3
14 Contraceptive Agents Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estradiol valerate Phase 4 979-32-8
18 Estrogens Phase 4
19 Hormone Antagonists Phase 4,Phase 3
20 Hormones Phase 4,Phase 3
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
22 insulin Phase 4
23 Insulin, Globin Zinc Phase 4
24 Mitogens Phase 4,Phase 2
25 Neurotransmitter Agents Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 3
27 Polyestradiol phosphate Phase 4
28 Sympatholytics Phase 4
29 Hypoglycemic Agents Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Anti-Infective Agents Phase 4,Phase 2
32 Antiparkinson Agents Phase 4
33 Antiviral Agents Phase 4,Phase 2
34 Dopamine Agents Phase 4
35 arginine Nutraceutical Phase 4
36
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
38 Vaccines Phase 3
39 Antiemetics Phase 3
40 Anti-Inflammatory Agents Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 BB 1101 Phase 3
43 Dexamethasone acetate Phase 3 1177-87-3
44 Gastrointestinal Agents Phase 3
45 glucocorticoids Phase 3
46 Dexamethasone 21-phosphate Phase 3
47 HIV Protease Inhibitors Phase 3
48 Pharmaceutical Solutions Phase 3
49
protease inhibitors Phase 3
50
Caspofungin Approved Phase 2 162808-62-0, 179463-17-3 2826718 468682

Interventional clinical trials:

(show all 29)

# 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 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
6 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
7 Gemcitabine Hydrochloride Alone or With VX-970 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Recruiting NCT02595892 Phase 2 ATR Kinase Inhibitor VX-970;Gemcitabine Hydrochloride
8 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 175 mg BD + olaparib 200 mg BD (21-day cycle).
9 A Study of AZD6738 and Acalabrutinib in Subjects With Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) Recruiting NCT03328273 Phase 1, Phase 2 AZD6738;acalabrutinib
10 Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer Patients Active, not recruiting NCT01063517 Phase 2 olaparib;paclitaxel;Placebo
11 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2 MK-4827
12 First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344;Radium-223 dichloride
13 ATRi Transition Rollover Study Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
14 A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer Not yet recruiting NCT03423628 Phase 1 AZD1390
15 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
16 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348
17 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
18 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200
19 Susceptibility to Infections in Ataxia Telangiectasia Completed NCT02345135
20 Study for Treatment of Cancer in Children With Ataxia-telangiectasia Completed NCT00187057 vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
21 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
22 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
23 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia Recruiting NCT03357978
24 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Recruiting NCT02246491
25 Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Recruiting NCT02857894
26 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
28 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
29 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632

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
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 28 ATM
2 Ataxia-Telangiectasia Variant 28

Anatomical Context for Ataxia-Telangiectasia

MalaCards organs/tissues related to Ataxia-Telangiectasia:

38
Eye, Skin, Brain, Lung, T Cells, Breast, B Cells

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 913)
# Title Authors Year
1
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
2
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
3
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
4
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
5
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
6
<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
7
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
8
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
9
Growth hormone treatment in patients with ataxia telangiectasia. ( 28948852 )
2017
10
Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats. ( 28894083 )
2017
11
Haplodeficiency of Ataxia Telangiectasia Mutated Accelerates Heart Failure After Myocardial Infarction. ( 28724653 )
2017
12
Ataxia telangiectasia and rad3 related (ATR)-promyelocytic leukemia protein (PML) pathway of the DNA damage response in the brain of rats administered arsenic trioxide. ( 29097844 )
2017
13
Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel. ( 29163336 )
2017
14
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
15
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )
2017
16
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
17
Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization. ( 28698541 )
2017
18
Inhibition of ataxia telangiectasia related-3 (ATR) improves therapeutic index in preclinical models of non-small cell lung cancer (NSCLC) radiotherapy. ( 28697853 )
2017
19
Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy. ( 28782291 )
2017
20
Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks. ( 29081736 )
2017
21
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. ( 28981872 )
2017
22
A new ataxia-telangiectasia mutation in an 11-year-old female. ( 28488180 )
2017
23
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms. ( 29288088 )
2017
24
A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility. ( 28756982 )
2017
25
Ataxia-telangiectasia: Immunodeficiency and survival. ( 28126470 )
2017
26
Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management. ( 29200166 )
2017
27
Multidisciplinary care of children and young people with ataxia-telangiectasia. ( 28338211 )
2017
28
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. ( 28082406 )
2017
29
Ataxia-Telangiectasia Mutated Modulation of Carbon Metabolism in Cancer. ( 29238697 )
2017
30
Transcriptional regulation of ataxia-telangiectasia and Rad3-related protein by activated p21-activated kinase-1 protects keratinocytes in UV-B-induced premalignant skin lesions. ( 28692051 )
2017
31
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. ( 28716242 )
2017
32
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? ( 28778179 )
2017
33
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. ( 29155101 )
2017
34
Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology). ( 28596805 )
2017
35
Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions. ( 28929041 )
2017
36
The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research. ( 28825373 )
2017
37
Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling. ( 29152614 )
2017
38
Ataxia telangiectasia syndrome: moonlighting ATM. ( 29034753 )
2017
39
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. ( 28123174 )
2017
40
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
41
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
42
Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population. ( 28642860 )
2017
43
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
44
T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib). ( 29296924 )
2017
45
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. ( 28196983 )
2017
46
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). ( 28131712 )
2017
47
B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. ( 28701397 )
2017
48
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. ( 28120234 )
2017
49
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. ( 28746835 )
2017
50
Neurofibromatosis type-1 in a patient with ataxia-telangiectasia. ( 29237983 )
2017

Variations for Ataxia-Telangiectasia

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

71 (show all 46)
# Symbol AA change Variation ID SNP ID
1 ATM p.Lys224Glu VAR_010801 rs145053092
2 ATM p.Pro292Leu VAR_010802 rs747727055
3 ATM p.Ile323Val VAR_010803 rs587781511
4 ATM p.Phe570Ser VAR_010808 rs777301065
5 ATM p.Asn768Asp VAR_010812
6 ATM p.Arg785Cys VAR_010813 rs587778065
7 ATM p.Leu950Arg VAR_010815 rs786203054
8 ATM p.Leu1001Gln VAR_010816
9 ATM p.His1082Leu VAR_010819
10 ATM p.Glu1091Asp VAR_010820
11 ATM p.Leu1420Pro VAR_010823
12 ATM p.Leu1465Pro VAR_010826 rs730881391
13 ATM p.Pro1566Arg VAR_010827
14 ATM p.Thr1743Ile VAR_010831 rs587779844
15 ATM p.Val1913Gly VAR_010836
16 ATM p.Asp2016Gly VAR_010838 rs587781302
17 ATM p.Gly2063Glu VAR_010839 rs866290641
18 ATM p.Ala2067Asp VAR_010840 rs397514577
19 ATM p.Ser2218Cys VAR_010844
20 ATM p.Arg2227Cys VAR_010846 rs564652222
21 ATM p.Val2424Gly VAR_010854 rs28904921
22 ATM p.Tyr2470Asp VAR_010858 rs876659365
23 ATM p.Trp2491Arg VAR_010860
24 ATM p.His2554Asp VAR_010862
25 ATM p.Asp2625Gln VAR_010863
26 ATM p.Leu2656Pro VAR_010865 rs121434218
27 ATM p.Glu2668Gly VAR_010868
28 ATM p.Ile2702Arg VAR_010870 rs876659735
29 ATM p.Ala2726Val VAR_010874
30 ATM p.Cys2824Tyr VAR_010878 rs876660927
31 ATM p.Phe2827Cys VAR_010879 rs121434216
32 ATM p.Pro2829Leu VAR_010880 rs938431501
33 ATM p.Arg2832Cys VAR_010881 rs587779872
34 ATM p.Arg2849Pro VAR_010882
35 ATM p.Ser2855Arg VAR_010883 rs780905851
36 ATM p.Gly2867Arg VAR_010886
37 ATM p.Glu2904Gly VAR_010889 rs786202826
38 ATM p.Arg2909Gly VAR_010890
39 ATM p.Arg3008Cys VAR_010893 rs587782292
40 ATM p.Leu1046Pro VAR_077237 rs568461905
41 ATM p.Gly2023Arg VAR_077238 rs11212587
42 ATM p.Leu2068Ser VAR_077239
43 ATM p.Tyr2080Asp VAR_077240
44 ATM p.Tyr2627His VAR_077241
45 ATM p.Phe2834Leu VAR_077242
46 ATM p.Asn3003Asp VAR_077243 rs1137889

ClinVar genetic disease variations for Ataxia-Telangiectasia:

6 (show top 50) (show all 462)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.6200C> A (p.Ala2067Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397514577 GRCh37 Chromosome 11, 108188101: 108188101
2 ATM NM_000051.3(ATM): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779815 GRCh38 Chromosome 11, 108250804: 108250804
3 ATM NM_000051.3(ATM): c.1564_1565delGA (p.Glu522Ilefs) deletion Pathogenic rs587779817 GRCh38 Chromosome 11, 108251029: 108251030
4 ATM NM_000051.3(ATM): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs587779818 GRCh38 Chromosome 11, 108227873: 108227873
5 ATM NM_000051.3(ATM): c.2502dupA (p.Val835Serfs) duplication Pathogenic rs587779822 GRCh38 Chromosome 11, 108267206: 108267206
6 ATM NM_000051.3(ATM): c.2638+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs587779826 GRCh38 Chromosome 11, 108267344: 108267344
7 ATM NM_000051.3(ATM): c.3372C> G (p.Tyr1124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779833 GRCh38 Chromosome 11, 108279578: 108279578
8 ATM NM_000051.3(ATM): c.3802delG (p.Val1268Terfs) deletion Pathogenic rs587779834 GRCh38 Chromosome 11, 108284282: 108284282
9 ATM NM_000051.3(ATM): c.5290delC (p.Leu1764Tyrfs) deletion Pathogenic/Likely pathogenic rs587779846 GRCh38 Chromosome 11, 108301760: 108301760
10 ATM NM_000051.3(ATM): c.5791delGinsCCT (p.Ala1931Profs) indel Pathogenic/Likely pathogenic rs587779851 GRCh38 Chromosome 11, 108310188: 108310188
11 ATM NM_000051.3(ATM): c.5932G> T (p.Glu1978Ter) single nucleotide variant Pathogenic rs587779852 GRCh38 Chromosome 11, 108312424: 108312424
12 ATM NM_000051.3(ATM): c.6100C> T (p.Arg2034Ter) single nucleotide variant Pathogenic/Likely pathogenic rs532480170 GRCh38 Chromosome 11, 108316015: 108316015
13 ATM NM_000051.3(ATM): c.6572+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587779856 GRCh38 Chromosome 11, 108321421: 108321421
14 ATM NM_000051.3(ATM) deletion Pathogenic/Likely pathogenic rs587779859 GRCh38 Chromosome 11, 108327635: 108327658
15 ATM NM_000051.3(ATM): c.7456C> T (p.Arg2486Ter) single nucleotide variant Pathogenic rs587779865 GRCh38 Chromosome 11, 108330362: 108330362
16 ATM NM_000051.3(ATM): c.7630-2A> C single nucleotide variant Pathogenic rs587779866 GRCh38 Chromosome 11, 108331877: 108331877
17 ATM NM_000051.3(ATM): c.7998dupT (p.Met2667Tyrfs) duplication Pathogenic/Likely pathogenic rs587779869 GRCh38 Chromosome 11, 108333956: 108333956
18 ATM NM_000051.3(ATM): c.8494C> T (p.Arg2832Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587779872 GRCh38 Chromosome 11, 108345818: 108345818
19 ATM NM_000051.3(ATM): c.8786+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs17174393 GRCh38 Chromosome 11, 108353881: 108353881
20 ATM NM_000051.3(ATM): c.8545C> T (p.Arg2849Ter) single nucleotide variant Pathogenic rs587778080 GRCh37 Chromosome 11, 108216596: 108216596
21 ATM NM_000051.3(ATM): c.1027_1030delGAAA deletion Pathogenic/Likely pathogenic rs587780612 GRCh38 Chromosome 11, 108247089: 108247092
22 ATM NM_000051.3(ATM): c.7788G> A (p.Glu2596=) single nucleotide variant Pathogenic rs587780639 GRCh38 Chromosome 11, 108332037: 108332037
23 ATM NM_000051.3(ATM): c.8266A> T (p.Lys2756Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371638537 GRCh38 Chromosome 11, 108335959: 108335959
24 ATM NM_000051.3(ATM): c.9079dupA (p.Ser3027Lysfs) duplication Pathogenic/Likely pathogenic rs587780645 GRCh38 Chromosome 11, 108365416: 108365416
25 ATM NM_000051.3(ATM): c.6997dupA (p.Thr2333Asnfs) duplication Pathogenic/Likely pathogenic rs587781299 GRCh38 Chromosome 11, 108327666: 108327666
26 ATM NM_000051.3(ATM): c.6047A> G (p.Asp2016Gly) single nucleotide variant Likely pathogenic rs587781302 GRCh38 Chromosome 11, 108315863: 108315863
27 ATM NM_000051.3(ATM): c.1402_1403delAA (p.Lys468Glufs) deletion Pathogenic/Likely pathogenic rs587781347 GRCh38 Chromosome 11, 108250867: 108250868
28 ATM NM_000051.3(ATM): c.8565_8566delTGinsAA (p.Ser2855_Val2856delinsArgIle) indel Likely pathogenic rs587781353 GRCh38 Chromosome 11, 108345889: 108345890
29 ATM NM_000051.3(ATM): c.8473C> T (p.Gln2825Ter) single nucleotide variant Pathogenic rs587781363 GRCh38 Chromosome 11, 108345797: 108345797
30 ATM NM_000051.3(ATM): c.378delT (p.Asp126Glufs) deletion Pathogenic rs587781449 GRCh38 Chromosome 11, 108235716: 108235716
31 ATM NM_000051.3(ATM): c.2921+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781558 GRCh37 Chromosome 11, 108141874: 108141874
32 ATM NM_000051.3(ATM): c.7913G> A (p.Trp2638Ter) single nucleotide variant Pathogenic/Likely pathogenic rs377349459 GRCh37 Chromosome 11, 108203613: 108203613
33 ATM NM_000051.3(ATM): c.8505C> A (p.Cys2835Ter) single nucleotide variant Pathogenic rs587781597 GRCh37 Chromosome 11, 108216556: 108216556
34 ATM NM_000051.3(ATM): c.1290_1291delTG (p.Cys430Terfs) deletion Pathogenic/Likely pathogenic rs587781598 GRCh37 Chromosome 11, 108121482: 108121483
35 ATM NM_000051.3(ATM): c.4373delG (p.Gly1458Glufs) deletion Pathogenic rs587781653 GRCh37 Chromosome 11, 108160465: 108160465
36 ATM NM_000051.3(ATM): c.2284_2285delCT (p.Leu762Valfs) deletion Pathogenic/Likely pathogenic rs587781658 GRCh37 Chromosome 11, 108128241: 108128242
37 ATM NM_000051.3(ATM): c.7096G> T (p.Glu2366Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587781672 GRCh37 Chromosome 11, 108199754: 108199754
38 ATM NM_000051.3(ATM): c.8998C> T (p.Gln3000Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587781698 GRCh37 Chromosome 11, 108236062: 108236062
39 ATM NM_000051.3(ATM): c.5908C> T (p.Gln1970Ter) single nucleotide variant Pathogenic rs587781722 GRCh37 Chromosome 11, 108181032: 108181032
40 ATM NM_000051.3(ATM): c.5712dupA (p.Ser1905Ilefs) duplication Pathogenic/Likely pathogenic rs587781730 GRCh37 Chromosome 11, 108178661: 108178661
41 ATM NM_000051.3(ATM): c.3993+1G> A single nucleotide variant Pathogenic rs200196781 GRCh37 Chromosome 11, 108155201: 108155201
42 ATM NM_000051.3(ATM): c.1355delC (p.Thr452Asnfs) deletion Pathogenic rs587781776 GRCh37 Chromosome 11, 108121547: 108121547
43 ATM NM_000051.3(ATM): c.3894dupT (p.Ala1299Cysfs) duplication Pathogenic rs587781823 GRCh37 Chromosome 11, 108155101: 108155101
44 ATM NM_000051.3(ATM): c.9023G> A (p.Arg3008His) single nucleotide variant Likely pathogenic rs587781894 GRCh37 Chromosome 11, 108236087: 108236087
45 ATM NM_000051.3(ATM): c.7517_7520delGAGA (p.Arg2506Thrfs) deletion Pathogenic rs587781905 GRCh37 Chromosome 11, 108202172: 108202175
46 ATM NM_000051.3(ATM): c.4776+2T> C single nucleotide variant Pathogenic rs587781927 GRCh37 Chromosome 11, 108164206: 108164206
47 ATM NM_000051.3(ATM): c.4198A> T (p.Lys1400Ter) single nucleotide variant Pathogenic rs587781950 GRCh37 Chromosome 11, 108159792: 108159792
48 ATM NM_000051.3(ATM): c.8185C> T (p.Gln2729Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587781967 GRCh37 Chromosome 11, 108206605: 108206605
49 ATM NM_000051.3(ATM): c.3381_3384delTCAG (p.Gln1128Lysfs) deletion Pathogenic/Likely pathogenic rs587781971 GRCh37 Chromosome 11, 108150314: 108150317
50 ATM NM_000051.3(ATM): c.790delT (p.Tyr264Ilefs) deletion Pathogenic rs587781978 GRCh37 Chromosome 11, 108115642: 108115642

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:

36
# 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 top 50) (show all 58)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
2
Show member pathways
13.84 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3
Show member pathways
13.6 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
4
Show member pathways
13.4 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
5
Show member pathways
13.3 ATM ATR CDKN1A H2AFX MRE11 NBN
6
Show member pathways
13.17 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
7
Show member pathways
13.12 ATM ATR BRCA1 CHEK2 H2AFX MRE11
8 12.96 APTX ATM ATR BRCA1 CDKN1A CHEK1
9
Show member pathways
12.89 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
10
Show member pathways
12.88 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
11
Show member pathways
12.73 ATM ATR BRCA1 H2AFX MRE11 NBN
12
Show member pathways
12.67 ATM CDKN1A PCNA RPA1 RPA2 TP53
13
Show member pathways
12.63 BRCA1 PCNA RPA1 TP53 TP53BP1
14 12.61 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
15
Show member pathways
12.61 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
16 12.58 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
17
Show member pathways
12.54 ATM CDKN1A H2AFX MRE11 NBN RAD50
18
Show member pathways
12.52 ATM ATR BRCA1 CHEK1 MRE11 NBN
19
Show member pathways
12.51 ATM ATR CHEK1 CHEK2 TP53
20
Show member pathways
12.49 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
21
Show member pathways
12.46 ATR CHEK1 PCNA RPA1 RPA2
22 12.42 ATM ATR CDKN1A CHEK1 CHEK2 MRE11
23
Show member pathways
12.42 ATM BRCA1 CHEK2 DCLRE1C H2AFX MRE11
24 12.39 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
25
Show member pathways
12.37 ATM ATR CDKN1A TP53
26
Show member pathways
12.36 ATM BRCA1 MRE11 NBN RAD50 RPA1
27 12.29 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
28
Show member pathways
12.25 BRCA1 CDKN1A CHEK1 CHEK2
29
Show member pathways
12.24 ATM ATR RPA1 RPA2
30 12.09 ATM ATR CDKN1A TP53
31 12.09 CDKN1A CHEK1 NPAT PCNA PRKDC RPA1
32
Show member pathways
12.08 ATM BRCA1 CDKN1A CHEK1 CHEK2 H2AFX
33 11.97 ATR BRCA1 RPA1 RPA2
34 11.93 ATM BRCA1 CHEK1 CHEK2 PRKDC TP53
35
Show member pathways
11.89 PCNA RPA1 RPA2
36 11.85 ATM BRCA1 CDKN1A TP53
37 11.83 ATM ATR CHEK1 CHEK2 TP53
38 11.8 ATM MRE11 NBN RAD50
39 11.77 ATM ATR CHEK1 CHEK2 DCLRE1C H2AFX
40 11.75 ATM BRCA1 CDKN1A
41
Show member pathways
11.75 ATM CHEK2 TP53
42
Show member pathways
11.73 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
43
Show member pathways
11.69 ATM ATR CHEK1 CHEK2 TP53
44 11.67 ATM CDKN1A H2AFX TP53
45 11.58 BRCA1 CDKN1A TP53
46 11.57 ATM ATR BRCA1 CDKN1A PCNA TP53
47 11.44 BRCA1 DCLRE1C MRE11 NBN PRKDC RAD50
48 11.41 ATM ATR CHEK1 CHEK2 H2AFX PRKDC
49 11.37 ATM ATR BRCA1 MRE11 NBN PCNA
50 11.25 ATM ATR BRCA1 TP53

GO Terms for Ataxia-Telangiectasia

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 9.92 CDKN1A PCNA RPA2 TP53 TP53BP1
2 PML body GO:0016605 9.91 ATR CHEK2 MRE11 NBN RPA1 RPA2
3 chromatin GO:0000785 9.88 APTX CHEK1 H2AFX RPA2 TP53
4 nuclear chromatin GO:0000790 9.86 APTX H2AFX RAD50 TP53
5 site of double-strand break GO:0035861 9.8 H2AFX MRE11 NBN RAD50 RPA2 TP53BP1
6 condensed nuclear chromosome GO:0000794 9.76 BRCA1 CHEK1 H2AFX RAD50
7 replication fork GO:0005657 9.73 CHEK1 H2AFX NBN PCNA TP53 TP53BP1
8 nuclear chromosome, telomeric region GO:0000784 9.7 ATM ATR DCLRE1C MRE11 NBN PCNA
9 Mre11 complex GO:0030870 9.61 MRE11 NBN RAD50
10 DNA replication factor A complex GO:0005662 9.58 RPA1 RPA2
11 nonhomologous end joining complex GO:0070419 9.55 DCLRE1C PRKDC
12 DNA repair complex GO:1990391 9.54 ATM TP53BP1
13 PCNA-p21 complex GO:0070557 9.51 CDKN1A PCNA
14 chromosome, telomeric region GO:0000781 9.28 ATM CHEK1 CHEK2 H2AFX MRE11 NBN
15 nucleus GO:0005634 10.38 APTX ATM ATR BRCA1 CDKN1A CHEK1
16 nucleoplasm GO:0005654 10.13 APTX ATM ATR BRCA1 CDKN1A CHEK1
17 nucleolus GO:0005730 10.04 APTX ATM CDKN1A NBN PRKDC TP53
18 chromosome GO:0005694 10.04 ATR BRCA1 H2AFX MRE11 NBN RAD50

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

(show top 50) (show all 69)
# Name GO ID Score Top Affiliating Genes
1 DNA damage checkpoint GO:0000077 9.99 ATR CHEK1 CHEK2 H2AFX NBN TP53BP1
2 meiotic cell cycle GO:0051321 9.98 H2AFX MRE11 NBN RAD50
3 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.98 ATM CDKN1A CHEK2 PCNA TP53
4 response to ionizing radiation GO:0010212 9.97 ATM BRCA1 DCLRE1C H2AFX PRKDC
5 cellular response to gamma radiation GO:0071480 9.97 ATM ATR CDKN1A CHEK2 H2AFX TP53
6 DNA synthesis involved in DNA repair GO:0000731 9.96 ATM BRCA1 MRE11 NBN RAD50
7 strand displacement GO:0000732 9.95 ATM BRCA1 MRE11 NBN RAD50
8 regulation of cellular response to heat GO:1900034 9.94 ATM ATR RPA1 RPA2
9 DNA double-strand break processing GO:0000729 9.93 ATM BRCA1 MRE11 NBN RAD50
10 G1/S transition of mitotic cell cycle GO:0000082 9.92 CDKN1A RPA1 RPA2
11 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.92 ATM BRCA1 CHEK2 PRKDC
12 interstrand cross-link repair GO:0036297 9.92 ATR DCLRE1C RPA1 RPA2
13 transcription-coupled nucleotide-excision repair GO:0006283 9.91 PCNA RPA1 RPA2
14 replicative senescence GO:0090399 9.91 ATM ATR CDKN1A CHEK1 CHEK2 TP53
15 DNA duplex unwinding GO:0032508 9.9 MRE11 NBN RAD50
16 cellular response to UV GO:0034644 9.89 ATR PCNA TP53
17 nucleotide-excision repair GO:0006289 9.89 RPA1 RPA2 TP53
18 nucleotide-excision repair, DNA incision GO:0033683 9.88 PCNA RPA1 RPA2
19 DNA damage response, detection of DNA damage GO:0042769 9.88 PCNA RPA1 RPA2
20 base-excision repair GO:0006284 9.88 RPA1 RPA2 TP53
21 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.88 BRCA1 CDKN1A CHEK2 TP53
22 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.87 PCNA RPA1 RPA2
23 translesion synthesis GO:0019985 9.87 PCNA RPA1 RPA2
24 mismatch repair GO:0006298 9.87 PCNA RPA1 RPA2
25 response to gamma radiation GO:0010332 9.87 CHEK2 PRKDC TP53
26 intrinsic apoptotic signaling pathway GO:0097193 9.86 CDKN1A NBN TP53
27 reciprocal meiotic recombination GO:0007131 9.86 ATM MRE11 RAD50
28 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.85 CDKN1A CHEK2 TP53
29 positive regulation of DNA repair GO:0045739 9.85 BRCA1 H2AFX PCNA
30 DNA replication GO:0006260 9.85 ATM ATR BRCA1 CHEK1 MRE11 NBN
31 nucleotide-excision repair, DNA gap filling GO:0006297 9.83 PCNA RPA1 RPA2
32 telomere maintenance via semi-conservative replication GO:0032201 9.83 PCNA RPA1 RPA2
33 positive regulation of protein autophosphorylation GO:0031954 9.83 MRE11 NBN RAD50
34 error-prone translesion synthesis GO:0042276 9.82 PCNA RPA1 RPA2
35 error-free translesion synthesis GO:0070987 9.82 PCNA RPA1 RPA2
36 positive regulation of kinase activity GO:0033674 9.81 MRE11 NBN RAD50
37 V(D)J recombination GO:0033151 9.8 ATM DCLRE1C PRKDC
38 positive regulation of telomere maintenance GO:0032206 9.79 MRE11 NBN RAD50
39 DNA damage induced protein phosphorylation GO:0006975 9.78 ATM CHEK1 CHEK2
40 negative regulation of telomere capping GO:1904354 9.77 ATM NBN RAD50
41 telomeric 3 overhang formation GO:0031860 9.77 MRE11 NBN RAD50
42 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.74 NBN TP53
43 determination of adult lifespan GO:0008340 9.74 ATM TP53
44 DNA ligation GO:0006266 9.74 APTX PCNA
45 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.74 BRCA1 CHEK1
46 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.73 ATM ATR
47 cellular response to X-ray GO:0071481 9.73 ATM TP53BP1
48 mitotic G1 DNA damage checkpoint GO:0031571 9.73 RPA2 TP53
49 chromosome organization involved in meiotic cell cycle GO:0070192 9.73 ATM RAD50
50 protein localization to chromosome GO:0034502 9.72 RPA1 RPA2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.99 ATM ATR CDKN1A CHEK1 CHEK2 PRKDC
2 DNA binding GO:0003677 9.97 APTX ATM ATR BRCA1 H2AFX MRE11
3 protein kinase activity GO:0004672 9.96 ATM ATR CHEK1 CHEK2 PRKDC
4 protein serine/threonine kinase activity GO:0004674 9.92 ATM ATR CHEK1 CHEK2 PRKDC
5 nucleotide binding GO:0000166 9.89 ATM ATR CHEK1 CHEK2 RAD50
6 enzyme binding GO:0019899 9.85 BRCA1 H2AFX PCNA PRKDC RPA2 TP53
7 ubiquitin protein ligase binding GO:0031625 9.83 BRCA1 CDKN1A CHEK2 RPA2 TP53
8 p53 binding GO:0002039 9.71 TP53 TP53BP1 TRIM29
9 ATP-dependent DNA helicase activity GO:0004003 9.58 MRE11 NBN RAD50
10 G-rich strand telomeric DNA binding GO:0098505 9.55 RPA1 RPA2
11 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.5 DCLRE1C MRE11 RAD50
12 MutLalpha complex binding GO:0032405 9.48 ATR PCNA
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 damaged DNA binding GO:0003684 9.32 APTX BRCA1 DCLRE1C H2AFX NBN PCNA
16 protein binding GO:0005515 10.26 APTX ATM ATR BRCA1 CDKN1A CHEK1

Sources for Ataxia-Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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