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AT
MCID: ATX030
MIFTS: 82

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
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Aliases & Classifications for Ataxia-Telangiectasia

About this section

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 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
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Skin diseases Endocrine diseases Blood diseases Ear diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Sources

Summaries for Ataxia-Telangiectasia

About this section
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 Mecasermin and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and brain, 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
Sources

Related Diseases for Ataxia-Telangiectasia

About this section

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 5680)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 34.7 MRE11 NBN
2 nijmegen breakage syndrome 33.0 ATM BRCA1 CHEK2 MRE11 NBN RAD50
3 ocular motor apraxia 32.4 APTX ATM
4 synchronous bilateral breast carcinoma 31.8 ATM BRCA1 TP53
5 lig4 syndrome 31.6 ATM ATR DCLRE1C NBN PRKDC
6 xeroderma pigmentosum, variant type 30.8 ATM RPA1 RPA2 TP53
7 t-cell prolymphocytic leukemia 30.7 ATM CHEK2 TCL1A
8 werner syndrome 30.5 MRE11 NBN RPA1
9 fanconi anemia, complementation group g 30.5 CHEK1 CHEK2
10 li-fraumeni syndrome 2 30.3 CHEK2 TP53
11 bilateral breast cancer 30.2 ATM BRCA1 CHEK2
12 seckel syndrome 1 29.9 ATR CHEK1
13 breast cancer 29.8 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
14 lymphoma, non-hodgkin, familial 29.8 ATM FAS-AS1 NBN TCL1A TP53
15 fanconi anemia, complementation group a 29.8 ATM BRCA1 CHEK1 MRE11 NBN RAD50
16 li-fraumeni syndrome 29.7 ATM BRCA1 CHEK1 CHEK2 TP53
17 female breast cancer 29.7 ATM BRCA1 TP53
18 severe combined immunodeficiency with sensitivity to ionizing radiation 29.6 DCLRE1C PRKDC TP53BP1
19 sporadic breast cancer 29.5 ATM BRCA1 CHEK2 TP53
20 breast-ovarian cancer, familial 1 28.8 BRCA1 NBN
21 uterine corpus serous adenocarcinoma 28.7 BRCA1 TP53
22 hereditary breast ovarian cancer syndrome 28.5 ATM BRCA1 CHEK2 MRE11 NBN RAD50
23 ataxia-telangiectasia-like disorder 2 12.7
24 ataxia-telangiectasia with generalized skin pigmentation and early death 12.4
25 menarche, age at, quantitative trait locus 1 12.2
26 menopause, natural, age at, quantitative trait locus 1 12.1
27 menopause, natural, age at, quantitative trait locus 2 12.1
28 menopause, natural, age at, quantitative trait locus 4 12.1
29 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.1
30 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.1
31 ear antitragus, tag at base of 12.0
32 teeth present at birth 12.0
33 menarche, age at, quantitative trait locus 2 12.0
34 menarche, age at, quantitative trait locus 3 12.0
35 pulmonary fungal infections in patients deemed at risk 12.0
36 poliomyelitis in patients with immunodeficiencies deemed at risk 12.0
37 arterial tortuosity syndrome 11.9
38 antithrombin iii deficiency 11.8
39 ceroid lipofuscinosis, neuronal, 1 11.8
40 andersen cardiodysrhythmic periodic paralysis 11.6
41 hereditary antithrombin deficiency 11.6
42 atypical teratoid rhabdoid tumor 11.6
43 telangiectasis 11.5
44 ceroid lipofuscinosis, neuronal, 5 11.5
45 parkinson disease 10 11.4
46 leiomyomatosis, diffuse, with alport syndrome 11.4
47 ataxia and polyneuropathy, adult-onset 11.3
48 cerebellar hypoplasia 11.2
49 anemia, sideroblastic, and spinocerebellar ataxia 11.2
50 ceroid lipofuscinosis, neuronal, 2 11.2

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



Diseases related to Ataxia-Telangiectasia
Sources

Symptoms & Phenotypes for Ataxia-Telangiectasia

About this section

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 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
9 decreased antibody level in blood 60 33 hallmark (90%) Very frequent (99-80%) HP:0004313
10 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
11 mucosal telangiectasiae 60 33 hallmark (90%) Very frequent (99-80%) HP:0100579
12 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
13 polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0000147
14 lymphopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001888
15 abnormality of chromosome stability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003220
16 cellular immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0005374
17 aplasia/hypoplasia of the thymus 60 33 hallmark (90%) Very frequent (99-80%) HP:0010515
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 multiple cafe-au-lait spots 60 33 occasional (7.5%) Occasional (29-5%) HP:0007565
29 aplasia/hypoplasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008065
30 abnormal testis morphology 33 occasional (7.5%) HP:0000035
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 dystonia 33 HP:0001332
40 reduced tendon reflexes 33 HP:0001315
41 conjunctival telangiectasia 33 HP:0000524
42 abnormality of the testis 60 Occasional (29-5%)
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 decreased proportion of cd4-positive t cells 33 HP:0005407
49 decreased circulating iga level 33 HP:0002720
50 abnormal spermatogenesis 33 HP:0008669

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:
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

UMLS symptoms related to Ataxia-Telangiectasia:


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

Drugs & Therapeutics for Ataxia-Telangiectasia

About this section

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

Interventional clinical trials:

(show all 37)
# 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 Effects of Vitamin B3 in Patients With Ataxia Telangiectasia Enrolling by invitation NCT03962114 Phase 2
14 N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T) Not yet recruiting NCT03759678 Phase 2 IB1001
15 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2 MK-4827
16 First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344
17 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
18 A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer Recruiting NCT03423628 Phase 1 AZD1390
19 ATRi Transition Rollover Study Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
20 AZD6738 & Gemcitabine as Combination Therapy Not yet recruiting NCT03669601 Phase 1 AZD6738;Gemcitabine
21 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
22 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348 Not Applicable
23 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
24 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200 Not Applicable
25 Susceptibility to Infections in Ataxia Telangiectasia Completed NCT02345135 Not Applicable
26 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
27 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
28 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
29 The Use of Air Cleaners to Mitigate Cardiopulmonary Health Impact of Indoor Exposure to Particles and Phthalates Completed NCT03500614 Not Applicable
30 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia Recruiting NCT03357978 Not Applicable
31 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
32 Blood Markers of Early Pancreas Cancer Recruiting NCT03568630
33 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
34 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
35 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
36 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Terminated NCT02246491 Not Applicable
37 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

Sources

Genetic Tests for Ataxia-Telangiectasia

About this section

Genetic tests related to Ataxia-Telangiectasia:

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

Anatomical Context for Ataxia-Telangiectasia

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MalaCards organs/tissues related to Ataxia-Telangiectasia:

42
Skin, Breast, Brain, T Cells, Bone, Lung, Heart
Sources

Publications for Ataxia-Telangiectasia

About this section

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 2012)
# Title Authors Year
1
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. ( 30301590 )
2019
2
The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia. ( 30338439 )
2019
3
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations. ( 30339652 )
2019
4
The Ataxia telangiectasia-mutated and Rad3-related protein kinase regulates cellular hydrogen sulfide concentrations. ( 30470507 )
2019
5
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia. ( 30504431 )
2019
6
GSE4 peptide suppresses oxidative and telomere deficiencies in ataxia telangiectasia patient cells. ( 30670828 )
2019
7
DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients. ( 30679601 )
2019
8
Ataxia-telangiectasia: A review of clinical features and molecular pathology. ( 30685876 )
2019
9
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model. ( 30745336 )
2019
10
Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers. ( 30746633 )
2019
11
ATM mutation spectrum in Russian children with ataxia-telangiectasia. ( 30772474 )
2019
12
Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity. ( 30796268 )
2019
13
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations. ( 30819809 )
2019
14
Arecoline-regulated ataxia telangiectasia mutated expression level in oral cancer progression. ( 30821076 )
2019
15
"Optimization of potent and selective Ataxia Telangiectasia Mutated (ATM) inhibitors suitable for a proof-of-concept study in Huntington's disease models". ( 30840447 )
2019
16
Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome. ( 30854690 )
2019
17
NMR- and MD simulation-based structural characterization of the membrane-associating FATC domain of ataxia telangiectasia mutated. ( 30867195 )
2019
18
Ataxia-Telangiectasia Mutated is located in cardiac mitochondria and impacts oxidative phosphorylation. ( 30886180 )
2019
19
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
20
Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia. ( 30933018 )
2019
21
Inhibition of Ataxia-Telangiectasia Mutated and RAD3-related (ATR) overcomes oxaliplatin resistance and promotes anti-tumor immunity in colorectal cancer. ( 30987998 )
2019
22
Ataxia telangiectasia and Rad3-related inhibitors and cancer therapy: where we stand. ( 31018854 )
2019
23
Three new cases of Ataxia-Telangiectasia-Like Disorder: no impairment of the ATM pathway, but S-phase checkpoint defect. ( 31033087 )
2019
24
Functional classification of ATM variants in Ataxia-Telangiectasia patients. ( 31050087 )
2019
25
Rational design of 5-(4-(isopropylsulfonyl)phenyl)-3-(3-(4-((methylamino)methyl)phenyl)isoxazol-5-yl)pyrazin-2-amine (VX-970, M6620): Optimization of intra- and inter-molecular polar interactions of a new ataxia telangiectasia mutated and Rad3-related (ATR) kinase inhibitor. ( 31074988 )
2019
26
Interleukin 6-triggered ataxia-telangiectasia mutated kinase activation facilitates epithelial-to-mesenchymal transition in lung cancer by upregulating vimentin expression. ( 31100307 )
2019
27
Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38. ( 31107893 )
2019
28
Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands. ( 29978608 )
2018
29
Neurovisual Assessment in Children with Ataxia Telangiectasia. ( 28992644 )
2018
30
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
31
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. ( 29155101 )
2018
32
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
33
Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management. ( 29200166 )
2018
34
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
35
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms. ( 29288088 )
2018
36
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
37
1H, 15N, and 13C 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
38
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
39
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
40
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
41
Atm reactivation reverses ataxia telangiectasia phenotypes in vivo. ( 29472706 )
2018
42
Ataxia-Telangiectasia Mutated (ATM) Kinase Regulates eNOS Expression and Modulates Radiosensitivity in Endothelial Cells Exposed to Ionizing Radiation. ( 29474156 )
2018
43
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. ( 29489040 )
2018
44
Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis? ( 29582093 )
2018
45
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature. ( 29600275 )
2018
46
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
47
Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone. ( 29608596 )
2018
48
Ataxia-Telangiectasia Mutated Kinase in the Control of Oxidative Stress, Mitochondria, and Autophagy in Cancer: A Maestro With a Large Orchestra. ( 29616191 )
2018
49
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome. ( 29620677 )
2018
50
Ataxia telangiectasia mutated kinase deficiency impairs the autophagic response early during myocardial infarction. ( 29652546 )
2018
Sources

Variations for Ataxia-Telangiectasia

About this section

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 7090)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.8578_8580delTCT (p.Ser2860del) deletion Uncertain significance rs786203976 GRCh38 Chromosome 11, 108345902: 108345904
2 ATM NM_000051.3(ATM): c.8578_8580delTCT (p.Ser2860del) deletion Uncertain significance rs786203976 GRCh37 Chromosome 11, 108216629: 108216631
3 ATM NM_000051.3(ATM): c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) deletion Conflicting interpretations of pathogenicity rs587776547 GRCh38 Chromosome 11, 108331887: 108331895
4 ATM NM_000051.3(ATM): c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) deletion Conflicting interpretations of pathogenicity rs587776547 GRCh37 Chromosome 11, 108202614: 108202622
5 ATM NM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) deletion Pathogenic rs796051856 GRCh38 Chromosome 11, 108329210: 108329215
6 ATM NM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) deletion Pathogenic rs796051856 GRCh37 Chromosome 11, 108199937: 108199942
7 ATM NM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274 single nucleotide variant Conflicting interpretations of pathogenicity rs774925473 GRCh37 Chromosome 11, 108179837: 108179837
8 ATM NM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274 single nucleotide variant Conflicting interpretations of pathogenicity rs774925473 GRCh38 Chromosome 11, 108309110: 108309110
9 ATM NM_000051.3(ATM): c.8480T> G (p.Phe2827Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121434216 GRCh37 Chromosome 11, 108216531: 108216531
10 ATM NM_000051.3(ATM): c.8480T> G (p.Phe2827Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121434216 GRCh38 Chromosome 11, 108345804: 108345804
11 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh37 Chromosome 11, 108199929: 108199929
12 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh38 Chromosome 11, 108329202: 108329202
13 ATM NM_000051.3(ATM): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55861249 GRCh37 Chromosome 11, 108098533: 108098533
14 ATM NM_000051.3(ATM): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55861249 GRCh38 Chromosome 11, 108227806: 108227806
15 ATM NM_000051.3(ATM): c.3118A> G (p.Met1040Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3092857 GRCh37 Chromosome 11, 108143299: 108143299
16 ATM NM_000051.3(ATM): c.3118A> G (p.Met1040Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3092857 GRCh38 Chromosome 11, 108272572: 108272572
17 ATM NM_000051.3(ATM): c.9139C> T (p.Arg3047Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434219 GRCh37 Chromosome 11, 108236203: 108236203
18 ATM NM_000051.3(ATM): c.9139C> T (p.Arg3047Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434219 GRCh38 Chromosome 11, 108365476: 108365476
19 ATM NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) indel Pathogenic/Likely pathogenic rs267606668 GRCh37 Chromosome 11, 108203575: 108203576
20 ATM NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) indel Pathogenic/Likely pathogenic rs267606668 GRCh38 Chromosome 11, 108332848: 108332849
21 ATM NM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs) indel Pathogenic rs587776549 GRCh38 Chromosome 11, 108272813: 108272815
22 ATM NM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs) indel Pathogenic rs587776549 GRCh37 Chromosome 11, 108143540: 108143542
23 ATM NM_000051.3(ATM): c.7988_7991del (p.Val2663Alafs) deletion Pathogenic rs587776550 GRCh38 Chromosome 11, 108333946: 108333949
24 ATM NM_000051.3(ATM): c.7988_7991del (p.Val2663Alafs) deletion Pathogenic rs587776550 GRCh37 Chromosome 11, 108204673: 108204676
25 ATM NM_000051.3(ATM): c.3576G> A (p.Lys1192=) single nucleotide variant Pathogenic rs587776551 GRCh38 Chromosome 11, 108281168: 108281168
26 ATM NM_000051.3(ATM): c.3576G> A (p.Lys1192=) single nucleotide variant Pathogenic rs587776551 GRCh37 Chromosome 11, 108151895: 108151895
27 ATM NM_000051.3(ATM): c.7327C> T (p.Arg2443Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434220 GRCh37 Chromosome 11, 108200960: 108200960
28 ATM NM_000051.3(ATM): c.7327C> T (p.Arg2443Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434220 GRCh38 Chromosome 11, 108330233: 108330233
29 ATM NM_000051.3(ATM): c.1066-6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs201686625 GRCh38 Chromosome 11, 108248927: 108248927
30 ATM NM_000051.3(ATM): c.1066-6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs201686625 GRCh37 Chromosome 11, 108119654: 108119654
31 ATM NM_000051.3(ATM): c.4081C> T (p.Gln1361Ter) single nucleotide variant Pathogenic rs121434222 GRCh37 Chromosome 11, 108158414: 108158414
32 ATM NM_000051.3(ATM): c.4081C> T (p.Gln1361Ter) single nucleotide variant Pathogenic rs121434222 GRCh38 Chromosome 11, 108287687: 108287687
33 ATM NM_000051.3(ATM): c.2839-579_2839-576del deletion Likely pathogenic rs587776552 GRCh38 Chromosome 11, 108270485: 108270488
34 ATM NM_000051.3(ATM): c.2839-579_2839-576del deletion Likely pathogenic rs587776552 GRCh37 Chromosome 11, 108141212: 108141215
35 ATM NM_000051.3(ATM): c.2250G> A (p.Lys750=) single nucleotide variant Pathogenic/Likely pathogenic rs1137887 GRCh38 Chromosome 11, 108256340: 108256340
36 ATM NM_000051.3(ATM): c.2250G> A (p.Lys750=) single nucleotide variant Pathogenic/Likely pathogenic rs1137887 GRCh37 Chromosome 11, 108127067: 108127067
37 ATM NM_000051.3(ATM): c.8030A> G (p.Tyr2677Cys) single nucleotide variant Uncertain significance rs28942103 GRCh37 Chromosome 11, 108205715: 108205715
38 ATM NM_000051.3(ATM): c.8030A> G (p.Tyr2677Cys) single nucleotide variant Uncertain significance rs28942103 GRCh38 Chromosome 11, 108334988: 108334988
39 ATM NM_000051.3(ATM): c.496+5G> A single nucleotide variant Likely pathogenic rs796051858 GRCh38 Chromosome 11, 108235839: 108235839
40 ATM NM_000051.3(ATM): c.496+5G> A single nucleotide variant Likely pathogenic rs796051858 GRCh37 Chromosome 11, 108106566: 108106566
41 ATM NM_000051.3(ATM): c.146C> G (p.Ser49Cys) single nucleotide variant risk factor rs1800054 GRCh37 Chromosome 11, 108098576: 108098576
42 ATM NM_000051.3(ATM): c.146C> G (p.Ser49Cys) single nucleotide variant risk factor rs1800054 GRCh38 Chromosome 11, 108227849: 108227849
43 ATM NM_000051.3(ATM): c.6200C> A (p.Ala2067Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397514577 GRCh37 Chromosome 11, 108188101: 108188101
44 ATM NM_000051.3(ATM): c.6200C> A (p.Ala2067Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397514577 GRCh38 Chromosome 11, 108317374: 108317374
45 ATM NM_000051.3(ATM): c.1009C> T (p.Arg337Cys) single nucleotide variant Uncertain significance rs138398778 GRCh38 Chromosome 11, 108247071: 108247071
46 ATM NM_000051.3(ATM): c.1009C> T (p.Arg337Cys) single nucleotide variant Uncertain significance rs138398778 GRCh37 Chromosome 11, 108117798: 108117798
47 ATM NM_000051.3(ATM): c.1010G> A (p.Arg337His) single nucleotide variant Conflicting interpretations of pathogenicity rs202160435 GRCh38 Chromosome 11, 108247072: 108247072
48 ATM NM_000051.3(ATM): c.1010G> A (p.Arg337His) single nucleotide variant Conflicting interpretations of pathogenicity rs202160435 GRCh37 Chromosome 11, 108117799: 108117799
49 ATM NM_000051.3(ATM): c.1073A> G (p.Asn358Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149636614 GRCh38 Chromosome 11, 108248940: 108248940
50 ATM NM_000051.3(ATM): c.1073A> G (p.Asn358Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149636614 GRCh37 Chromosome 11, 108119667: 108119667
Sources

Expression for Ataxia-Telangiectasia

About this section
Search GEO for disease gene expression data for Ataxia-Telangiectasia.
Sources

Pathways for Ataxia-Telangiectasia

About this section

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
Gene Expression 67
Show member pathways
 13.87 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
2
Cell Cycle, Mitotic 67
Show member pathways
 13.56 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
3
DNA Double-Strand Break Repair 67
Show member pathways
 13.34 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
4
Cellular Senescence (REACTOME) 67
Show member pathways
 13.22 ATM ATR MRE11 NBN RAD50 RPA1
5
Regulation of TP53 Activity 67
Show member pathways
 13.15 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
6
TCR Signaling (Qiagen) 65
Show member pathways
 13.09 ATM ATR BRCA1 CHEK2 MRE11 NBN
7
Chks in Checkpoint Regulation 65
Show member pathways
 12.91 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
8
DNA Damage 4
12.88 APTX ATM ATR BRCA1 CHEK1 CHEK2
9
Cell Cycle Checkpoints 67
Show member pathways
 12.78 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
10
Meiosis 67
Show member pathways
 12.69 ATM ATR BRCA1 MRE11 NBN RAD50
11
SUMOylation 67
Show member pathways
 12.62 BRCA1 PCNA RPA1 TP53 TP53BP1
12
Mitotic G1-G1/S phases 67
Show member pathways
 12.6 ATM PCNA RPA1 RPA2 TP53
13
DNA Double Strand Break Response 67
Show member pathways
 12.6 ATM BRCA1 CHEK2 DCLRE1C MRE11 NBN
14
Cell cycle 38 1
12.55 ATM ATR CHEK1 CHEK2 PCNA PRKDC
15
DNA Damage Response 1
Show member pathways
 12.51 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
16
Apoptosis Pathway 73
Show member pathways
 12.5 ATM ATR CHEK1 CHEK2 TP53
17
Homologous DNA Pairing and Strand Exchange 67
Show member pathways
 12.49 ATM ATR BRCA1 CHEK1 MRE11 NBN
18
Human T-cell leukemia virus 1 infection 38
12.48 ATM ATR CHEK1 CHEK2 PCNA TP53
19
E2F mediated regulation of DNA replication 67
Show member pathways
 12.45 ATR CHEK1 PCNA RPA1 RPA2
20
p53 Signaling 65
Show member pathways
 12.45 ATM ATR BRCA1 CHEK1 CHEK2 PRKDC
21
DNA Damage/Telomere Stress Induced Senescence 67
Show member pathways
 12.42 ATM MRE11 NBN RAD50 TP53
22
Cellular senescence (KEGG) 38
12.38 ATM ATR CHEK1 CHEK2 MRE11 NBN
23
Integrated Breast Cancer Pathway 1
12.36 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
24
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 67
Show member pathways
 12.34 ATM BRCA1 MRE11 NBN RAD50 RPA1
25
Cellular response to heat stress 67
Show member pathways
 12.23 ATM ATR RPA1 RPA2
26
Retinoblastoma (RB) in Cancer 1
12.07 CHEK1 NPAT PCNA PRKDC RPA1 RPA2
27
Nucleotide excision repair 38
Show member pathways
 11.95 PCNA RPA1 RPA2
28
Fanconi anemia pathway 38 67
11.95 ATR BRCA1 RPA1 RPA2
29
ATM Pathway 65
Show member pathways
 11.91 ATM BRCA1 CHEK1 CHEK2 MRE11 NBN
30
Pathways Affected in Adenoid Cystic Carcinoma 1
11.9 ATM BRCA1 CHEK1 CHEK2 PRKDC TP53
31
Mismatch repair 1 67 38
Show member pathways
 11.87 PCNA RPA1 RPA2
32
p53 pathway 1
11.82 ATM ATR CHEK1 CHEK2 TP53
33
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
11.81 ATM ATR BRCA1 CHEK2 MRE11 NBN
34
Regulation of Telomerase 1
11.79 ATM MRE11 NBN RAD50
35
Platinum drug resistance 38
11.74 ATM BRCA1 TP53
36
Regulation of TP53 Expression and Degradation 67
Show member pathways
 11.73 ATM CHEK2 TP53
37
ATM Signaling Network in Development and Disease 1
11.73 ATM ATR CHEK1 CHEK2 DCLRE1C MRE11
38
BRCA1 Pathway 65
Show member pathways
 11.73 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
39
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 23
Show member pathways
 11.69 ATM ATR CHEK1 CHEK2 TP53
40
GADD45 Pathway 65
11.54 ATM ATR BRCA1 PCNA TP53
41
DNA damage_NHEJ mechanisms of DSBs repair 23
11.42 BRCA1 DCLRE1C MRE11 NBN PRKDC RAD50
42
BARD1 signaling events 1
11.37 ATM ATR BRCA1 MRE11 NBN PCNA
43
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 62
11.36 ATM ATR CHEK1 CHEK2 PRKDC
44
DNA Damage Induced 14-3-3Sigma Signaling 65
11.23 ATM ATR BRCA1 TP53
45
Telomere Extension by Telomerase 65
Show member pathways
 11.2 MRE11 NBN RAD50
46
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
11.2 ATM ATR BRCA1 CHEK1 CHEK2 NBN
47
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 11.15 ATM MRE11 NBN RAD50
48
Integrated Cancer Pathway 1
10.89 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
49
Circadian rhythm pathway 1
10.85 ATR CHEK1
50
PLK3 signaling events 1
10.39 CHEK2 TP53
Sources

GO Terms for Ataxia-Telangiectasia

About this section

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

Sources for Ataxia-Telangiectasia

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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