Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: ATX030
MIFTS: 79

Ataxia-Telangiectasia

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Blood diseases, Immune diseases, Ear diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Ataxia-Telangiectasia

About this section

MalaCards integrated aliases for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 57 24 25 59 75 13 38 40
Ataxia Telangiectasia 38 12 76 53 54 75 37 55 43 44 15 73
Louis-Bar Syndrome 57 53 25 59 75
Ataxia-Telangiectasia Variant 59 29 6 73
at 57 53 75
Ataxia-Telangiectasia Syndrome 29 6
At1 57 75
Immunodeficiency with Ataxia Telangiectasia 53
Telangiectasia, Cerebello-Oculocutaneous 25
Cerebello-Oculocutaneous Telangiectasia 53
Ataxia Telangiectasia Syndrome 25
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 59
a-T 25
Atm 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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 Immune diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
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 : 54 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 back pain, cerebellar ataxia and headache. 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 nystagmus and diabetes mellitus

OMIM : 57 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 : 75 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 : 53 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.

MedlinePlus : 43 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 : 25 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.

Wikipedia : 76 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 217)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 34.9 MRE11 NBN
2 nijmegen breakage syndrome 32.1 ATM BRCA1 CHEK2 MRE11 NBN RAD50
3 werner syndrome 30.7 MRE11 NBN RPA1
4 li-fraumeni syndrome 2 30.7 CHEK2 TP53
5 xeroderma pigmentosum, variant type 30.5 ATM RPA1 RPA2 TP53
6 bilateral breast cancer 30.3 ATM BRCA1 CHEK2
7 lymphoma, non-hodgkin, familial 29.9 ATM FAS-AS1 NBN TP53
8 fanconi anemia, complementation group a 28.6 ATM BRCA1 CHEK1 MRE11 NBN RAD50
9 li-fraumeni syndrome 28.5 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
10 ovarian cancer 28.4 ATM BRCA1 CDKN1A CHEK2 NBN TP53
11 breast cancer 27.1 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
12 ataxia-telangiectasia-like disorder 2 12.5
13 ataxia-telangiectasia with generalized skin pigmentation and early death 12.2
14 menarche, age at, quantitative trait locus 1 12.0
15 menopause, natural, age at, quantitative trait locus 1 11.9
16 menopause, natural, age at, quantitative trait locus 2 11.9
17 menopause, natural, age at, quantitative trait locus 4 11.9
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.9
19 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
20 ear antitragus, tag at base of 11.8
21 teeth present at birth 11.8
22 menarche, age at, quantitative trait locus 2 11.8
23 menarche, age at, quantitative trait locus 3 11.8
24 pulmonary fungal infections in patients deemed at risk 11.8
25 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
26 arterial tortuosity syndrome 11.7
27 antithrombin iii deficiency 11.6
28 ceroid lipofuscinosis, neuronal, 1 11.6
29 andersen cardiodysrhythmic periodic paralysis 11.4
30 ocular motor apraxia 11.4
31 cerebellar hypoplasia 11.0
32 anemia, sideroblastic, and spinocerebellar ataxia 11.0
33 nijmegen breakage syndrome-like disorder 10.5 MRE11 RAD50
34 leukemia 10.5
35 lymphoma 10.5
36 uterine corpus serous adenocarcinoma 10.5 BRCA1 TP53
37 lung cancer 10.4
38 synchronous bilateral breast carcinoma 10.4 ATM BRCA1 TP53
39 myxosarcoma 10.4 ATM BRCA1 TP53
40 female breast cancer 10.4 ATM BRCA1 TP53
41 aging 10.3
42 leukemia, acute lymphoblastic 10.3
43 lymphoblastic leukemia 10.3
44 lymphoma, hodgkin, classic 10.3
45 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3
46 neuronitis 10.3
47 actinic cheilitis 10.2 CDKN1A TP53
48 bloom syndrome 10.2
49 gastric cancer 10.2
50 dystonia 10.2

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

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

Growth Height:
short stature

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Ataxia-Telangiectasia:

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 diabetes mellitus 59 32 Frequent (79-30%) HP:0000819
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
8 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
10 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
11 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
15 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
16 neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0002664
17 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
18 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
19 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
20 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
21 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
22 mucosal telangiectasiae 59 32 hallmark (90%) Very frequent (99-80%) HP:0100579
23 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
24 abnormality of the testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000035
25 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
26 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
27 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
28 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
29 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
30 aplasia/hypoplasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008065
31 aplasia/hypoplasia of the thymus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010515
32 abnormality of eye movement 59 Very frequent (99-80%)
33 neurological speech impairment 59 Very frequent (99-80%)
34 immunodeficiency 59 Very frequent (99-80%)
35 abnormality of movement 59 Very frequent (99-80%)
36 sinusitis 32 HP:0000246
37 myoclonus 32 HP:0001336
38 glucose intolerance 32 HP:0000833
39 dystonia 32 HP:0001332
40 reduced tendon reflexes 32 HP:0001315
41 conjunctival telangiectasia 32 HP:0000524
42 abnormality of the immune system 59 Very frequent (99-80%)
43 prematurely aged appearance 59 Very frequent (99-80%)
44 hypoplasia of the thymus 32 HP:0000778
45 lymphoma 32 HP:0002665
46 choreoathetosis 32 HP:0001266
47 abnormality of the hair 32 HP:0001595
48 abnormal spermatogenesis 32 HP:0008669
49 elevated alpha-fetoprotein 32 HP:0006254
50 bronchiectasis 32 HP:0002110

UMLS symptoms related to Ataxia-Telangiectasia:


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

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

26 (show top 50) (show all 60)
# 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 CHEK1 CHEK2 RPA2 BRCA1
4 Decreased viability GR00221-A-3 10.82 CHEK1 CHEK2 RPA2 ATM BRCA1
5 Decreased viability GR00221-A-4 10.82 CHEK1 CHEK2 ATM
6 Decreased viability GR00240-S-1 10.82 CHEK1
7 Decreased viability GR00301-A 10.82 CHEK1 BRCA1 RPA1 ATR
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 CHEK1 CHEK2 RPA2 ATM BRCA1 RPA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.76 ATM PRKDC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.76 DCLRE1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.76 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.76 CHEK1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.76 CHEK2 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.76 ATR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.76 CHEK2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.76 DCLRE1C CHEK1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.76 DCLRE1C ATM CHEK1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.76 CHEK2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.76 CHEK1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.76 DCLRE1C CHEK1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.76 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.76 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.76 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.76 ATM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.76 ATM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.76 ATR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.76 CHEK1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.76 ATR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.76 ATR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.76 CHEK2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.76 PRKDC ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.76 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.76 ATM PRKDC
36 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.76 CHEK1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.76 PRKDC
38 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.76 CHEK1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.76 CHEK1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.76 ATR
41 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.76 CHEK1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.76 PRKDC
43 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.76 ATM
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.76 ATM
45 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.76 DCLRE1C ATR PRKDC CHEK1 ATM CHEK2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.76 DCLRE1C
47 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.25 PCNA PRKDC RAD50 RPA1 RPA2 TP53
48 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.07 RPA1 TP53 TP53BP1 ATM ATR BRCA1
49 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.07 RPA1 TP53 TP53BP1 ATM ATR BRCA1
50 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.95 ATM ATR CHEK1 CHEK2 PRKDC

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 APTX RPA1 TP53 TP53BP1 ATM ATR
2 endocrine/exocrine gland MP:0005379 10.36 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3 hematopoietic system MP:0005397 10.32 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
4 immune system MP:0005387 10.31 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
5 growth/size/body region MP:0005378 10.27 ATM ATR BRCA1 CDKN1A NBN NPAT
6 homeostasis/metabolism MP:0005376 10.27 NBN NPAT PRKDC TP53 TP53BP1 TRIM29
7 mortality/aging MP:0010768 10.24 RAD50 RPA1 TP53 TP53BP1 ATM ATR
8 embryo MP:0005380 10.22 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
9 adipose tissue MP:0005375 10.16 ATM ATR BRCA1 CDKN1A PCNA PRKDC
10 neoplasm MP:0002006 10.13 RPA1 TP53 TP53BP1 ATM ATR BRCA1
11 digestive/alimentary MP:0005381 10.08 ATR BRCA1 CDKN1A NPAT PRKDC RAD50
12 integument MP:0010771 10.01 ATM ATR BRCA1 CDKN1A CHEK1 PRKDC
13 nervous system MP:0003631 10 TP53 ATM ATR BRCA1 CDKN1A CHEK2
14 reproductive system MP:0005389 9.77 TP53BP1 ATM ATR BRCA1 CDKN1A CHEK1
15 pigmentation MP:0001186 9.55 ATR BRCA1 PRKDC RAD50 TP53
16 respiratory system MP:0005388 9.17 ATR BRCA1 CDKN1A NPAT PRKDC RAD50
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 105)
# 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 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Metformin Approved Phase 4 657-24-9 14219 4091
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7
Amantadine Approved Phase 4 768-94-5 2130
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9 Adrenergic Agents Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-2 Receptor Agonists Phase 4
12 Adrenergic alpha-Agonists Phase 4
13 Analgesics Phase 4
14 Antihypertensive Agents Phase 4
15 Autonomic Agents Phase 4,Phase 3,Not Applicable
16 Contraceptive Agents Phase 4
17 Estradiol 17 beta-cypionate Phase 4
18 Estradiol 3-benzoate Phase 4
19 Estrogens Phase 4
20 Hormone Antagonists Phase 4,Phase 3,Not Applicable
21 Hormones Phase 4,Phase 3,Not Applicable
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
23 insulin Phase 4
24 Insulin, Globin Zinc Phase 4
25 Mitogens Phase 4,Phase 2
26 Neurotransmitter Agents Phase 4
27 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
28 Sympatholytics Phase 4
29 Hypoglycemic Agents Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
32 Antiparkinson Agents Phase 4
33 Antiviral Agents Phase 4,Not Applicable
34 Dopamine Agents Phase 4
35 arginine Nutraceutical Phase 4
36
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Not Applicable 50-02-2 5743
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
38 Vaccines Phase 3
39 Antiemetics Phase 3,Not Applicable
40 Anti-Inflammatory Agents Phase 3,Not Applicable
41 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
42 BB 1101 Phase 3,Not Applicable
43 Dexamethasone acetate Phase 3,Not Applicable 1177-87-3
44 Gastrointestinal Agents Phase 3,Not Applicable
45 glucocorticoids Phase 3,Not Applicable
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 179463-17-3, 162808-62-0 468682 2826718

Interventional clinical trials:

(show all 31)
# 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 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 Not yet recruiting NCT03563053 Phase 3
7 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
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 A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer Recruiting NCT03423628 Phase 1 AZD1390
14 ATRi Transition Rollover Study Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
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 Not Applicable
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 Not Applicable
19 Susceptibility to Infections in Ataxia Telangiectasia Completed NCT02345135 Not Applicable
20 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
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 Not Applicable
24 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Recruiting NCT02246491 Not Applicable
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 The Use of Air Cleaners to Mitigate Cardiopulmonary Health Impact of Indoor Exposure to Particles and Phthalates Recruiting NCT03500614 Not Applicable
30 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
31 Blood Markers of Early Pancreas Cancer Not yet recruiting NCT03568630

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

Sources

Genetic Tests for Ataxia-Telangiectasia

About this section

Genetic tests related to Ataxia-Telangiectasia:

# Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome 29 ATM
2 Ataxia-Telangiectasia Variant 29
Sources

Anatomical Context for Ataxia-Telangiectasia

About this section

MalaCards organs/tissues related to Ataxia-Telangiectasia:

41
Eye, Skin, Brain, Lung, T Cells, Breast, B Cells
Sources

Publications for Ataxia-Telangiectasia

About this section

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 1025)
# Title Authors Year
1
Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis? ( 29582093 )
2018
2
3F-Box protein 32 degrades ataxia telangiectasia and Rad3-related and regulates DNA damage response induced by gemcitabine in pancreatic cancer. ( 29805624 )
2018
3
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia. ( 29866155 )
2018
4
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
5
Atm reactivation reverses ataxia telangiectasia phenotypes in vivo. ( 29472706 )
2018
6
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature. ( 29600275 )
2018
7
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. ( 29489040 )
2018
8
B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients. ( 29739685 )
2018
9
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
10
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing. ( 29664460 )
2018
11
The Identification of Potent, Selective, and Orally Available Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase: The Discovery of AZD0156 (8-{6-[3-(Dimethylamino)propoxy]pyridin-3-yl}-3-methyl-1-(tetrahydro-2 H-pyran-4-yl)-1,3-dihydro-2 H-imidazo[4,5- c]quinolin-2-one). ( 29683659 )
2018
12
Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands. ( 29978608 )
2018
13
Ataxia telangiectasia mutated kinase deficiency impairs the autophagic response early during myocardial infarction. ( 29652546 )
2018
14
Ataxia-Telangiectasia Mutated Kinase in the Control of Oxidative Stress, Mitochondria, and Autophagy in Cancer: A Maestro With a Large Orchestra. ( 29616191 )
2018
15
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
16
Correction to Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 29969258 )
2018
17
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
18
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome. ( 29620677 )
2018
19
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
20
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
21
Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone. ( 29608596 )
2018
22
Ataxia telangiectasia mutated kinase is an autophagic balancer at the onset of heart failure. ( 29750568 )
2018
23
Ataxia-Telangiectasia Mutated (ATM) Kinase Regulates eNOS Expression and Modulates Radiosensitivity in Endothelial Cells Exposed to Ionizing Radiation. ( 29474156 )
2018
24
<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
25
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
26
Ataxia-telangiectasia gene (<i>ATM</i>) mutation heterozygosity in breast cancer: a narrative review. ( 29719442 )
2018
27
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
28
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia. ( 28744812 )
2017
29
Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling. ( 29152614 )
2017
30
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
31
Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel. ( 29163336 )
2017
32
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
33
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. ( 28981872 )
2017
34
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms. ( 29288088 )
2017
35
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. ( 28196983 )
2017
36
Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis. ( 28543935 )
2017
37
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )
2017
38
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? ( 28778179 )
2017
39
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. ( 28162005 )
2017
40
B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. ( 28701397 )
2017
41
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. ( 28746835 )
2017
42
Neurofibromatosis type-1 in a patient with ataxia-telangiectasia. ( 29237983 )
2017
43
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. ( 28716242 )
2017
44
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
45
Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions. ( 28929041 )
2017
46
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
47
The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research. ( 28825373 )
2017
48
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
49
Growth hormone treatment in patients with ataxia telangiectasia. ( 28948852 )
2017
50
A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility. ( 28756982 )
2017
Sources

Variations for Ataxia-Telangiectasia

About this section

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

75 (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
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
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
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 5060)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) deletion Pathogenic rs587776547 GRCh38 Chromosome 11, 108331887: 108331895
2 ATM NM_000051.3(ATM): c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) deletion Pathogenic rs587776547 GRCh37 Chromosome 11, 108202614: 108202622
3 ATM NM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) deletion Pathogenic rs796051856 GRCh38 Chromosome 11, 108329210: 108329215
4 ATM NM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) deletion Pathogenic rs796051856 GRCh37 Chromosome 11, 108199937: 108199942
5 ATM NM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274 single nucleotide variant Pathogenic rs774925473 GRCh37 Chromosome 11, 108179837: 108179837
6 ATM NM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274 single nucleotide variant Pathogenic rs774925473 GRCh38 Chromosome 11, 108309110: 108309110
7 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh37 Chromosome 11, 108199929: 108199929
8 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh38 Chromosome 11, 108329202: 108329202
9 ATM NM_000051.3(ATM): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55861249 GRCh37 Chromosome 11, 108098533: 108098533
10 ATM NM_000051.3(ATM): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55861249 GRCh38 Chromosome 11, 108227806: 108227806
11 ATM NM_000051.3(ATM): c.9139C> T (p.Arg3047Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434219 GRCh37 Chromosome 11, 108236203: 108236203
12 ATM NM_000051.3(ATM): c.9139C> T (p.Arg3047Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434219 GRCh38 Chromosome 11, 108365476: 108365476
13 ATM NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) indel Pathogenic/Likely pathogenic rs267606668 GRCh37 Chromosome 11, 108203575: 108203576
14 ATM NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) indel Pathogenic/Likely pathogenic rs267606668 GRCh38 Chromosome 11, 108332848: 108332849
15 ATM NM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs) indel Pathogenic rs587776549 GRCh38 Chromosome 11, 108272813: 108272815
16 ATM NM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs) indel Pathogenic rs587776549 GRCh37 Chromosome 11, 108143540: 108143542
17 ATM NM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs) deletion Pathogenic rs587776550 GRCh38 Chromosome 11, 108333946: 108333949
18 ATM NM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs) deletion Pathogenic rs587776550 GRCh37 Chromosome 11, 108204673: 108204676
19 ATM NM_000051.3(ATM): c.3576G> A (p.Lys1192=) single nucleotide variant Pathogenic rs587776551 GRCh38 Chromosome 11, 108281168: 108281168
20 ATM NM_000051.3(ATM): c.3576G> A (p.Lys1192=) single nucleotide variant Pathogenic rs587776551 GRCh37 Chromosome 11, 108151895: 108151895
21 ATM NM_000051.3(ATM): c.7327C> T (p.Arg2443Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434220 GRCh37 Chromosome 11, 108200960: 108200960
22 ATM NM_000051.3(ATM): c.7327C> T (p.Arg2443Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434220 GRCh38 Chromosome 11, 108330233: 108330233
23 ATM NM_000051.3(ATM): c.4081C> T (p.Gln1361Ter) single nucleotide variant Pathogenic rs121434222 GRCh37 Chromosome 11, 108158414: 108158414
24 ATM NM_000051.3(ATM): c.4081C> T (p.Gln1361Ter) single nucleotide variant Pathogenic rs121434222 GRCh38 Chromosome 11, 108287687: 108287687
25 ATM NM_000051.3(ATM): c.2839-581_2839-578delGTAA deletion Pathogenic rs587776552 GRCh38 Chromosome 11, 108270483: 108270486
26 ATM NM_000051.3(ATM): c.2839-581_2839-578delGTAA deletion Pathogenic rs587776552 GRCh37 Chromosome 11, 108141210: 108141213
27 ATM NM_000051.3(ATM): c.496+5G> A single nucleotide variant Likely pathogenic rs796051858 GRCh38 Chromosome 11, 108235839: 108235839
28 ATM NM_000051.3(ATM): c.496+5G> A single nucleotide variant Likely pathogenic rs796051858 GRCh37 Chromosome 11, 108106566: 108106566
29 ATM NM_000051.3(ATM): c.146C> G (p.Ser49Cys) single nucleotide variant risk factor rs1800054 GRCh37 Chromosome 11, 108098576: 108098576
30 ATM NM_000051.3(ATM): c.146C> G (p.Ser49Cys) single nucleotide variant risk factor rs1800054 GRCh38 Chromosome 11, 108227849: 108227849
31 ATM NM_000051.3(ATM): c.6200C> A (p.Ala2067Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397514577 GRCh37 Chromosome 11, 108188101: 108188101
32 ATM NM_000051.3(ATM): c.6200C> A (p.Ala2067Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397514577 GRCh38 Chromosome 11, 108317374: 108317374
33 ATM NM_000051.3(ATM): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779815 GRCh38 Chromosome 11, 108250804: 108250804
34 ATM NM_000051.3(ATM): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779815 GRCh37 Chromosome 11, 108121531: 108121531
35 ATM NM_000051.3(ATM): c.1564_1565delGA (p.Glu522Ilefs) deletion Pathogenic rs587779817 GRCh38 Chromosome 11, 108251029: 108251030
36 ATM NM_000051.3(ATM): c.1564_1565delGA (p.Glu522Ilefs) deletion Pathogenic rs587779817 GRCh37 Chromosome 11, 108121756: 108121757
37 ATM NM_000051.3(ATM): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs587779818 GRCh38 Chromosome 11, 108227873: 108227873
38 ATM NM_000051.3(ATM): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs587779818 GRCh37 Chromosome 11, 108098600: 108098600
39 ATM NM_000051.3(ATM): c.2502dupA (p.Val835Serfs) duplication Pathogenic rs587779822 GRCh38 Chromosome 11, 108267206: 108267206
40 ATM NM_000051.3(ATM): c.2502dupA (p.Val835Serfs) duplication Pathogenic rs587779822 GRCh37 Chromosome 11, 108137933: 108137933
41 ATM NM_000051.3(ATM): c.2638+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs587779826 GRCh38 Chromosome 11, 108267344: 108267344
42 ATM NM_000051.3(ATM): c.2638+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs587779826 GRCh37 Chromosome 11, 108138071: 108138071
43 ATM NM_000051.3(ATM): c.3372C> G (p.Tyr1124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779833 GRCh38 Chromosome 11, 108279578: 108279578
44 ATM NM_000051.3(ATM): c.3372C> G (p.Tyr1124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779833 GRCh37 Chromosome 11, 108150305: 108150305
45 ATM NM_000051.3(ATM): c.3802delG (p.Val1268Terfs) deletion Pathogenic rs587779834 GRCh38 Chromosome 11, 108284282: 108284282
46 ATM NM_000051.3(ATM): c.3802delG (p.Val1268Terfs) deletion Pathogenic rs587779834 GRCh37 Chromosome 11, 108155009: 108155009
47 ATM NM_000051.3(ATM): c.5290delC (p.Leu1764Tyrfs) deletion Pathogenic/Likely pathogenic rs587779846 GRCh38 Chromosome 11, 108301760: 108301760
48 ATM NM_000051.3(ATM): c.5290delC (p.Leu1764Tyrfs) deletion Pathogenic/Likely pathogenic rs587779846 GRCh37 Chromosome 11, 108172487: 108172487
49 ATM NM_000051.3(ATM): c.5791delGinsCCT (p.Ala1931Profs) indel Pathogenic/Likely pathogenic rs587779851 GRCh38 Chromosome 11, 108310188: 108310188
50 ATM NM_000051.3(ATM): c.5791delGinsCCT (p.Ala1931Profs) indel Pathogenic/Likely pathogenic rs587779851 GRCh37 Chromosome 11, 108180915: 108180915
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:

37
# 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 59)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 66
Show member pathways
 13.91 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
2
Cell Cycle, Mitotic 66
Show member pathways
 13.58 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3
DNA Double-Strand Break Repair 66
Show member pathways
 13.36 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
4
Cellular Senescence (REACTOME) 66
Show member pathways
 13.26 ATM ATR CDKN1A MRE11 NBN RAD50
5
Regulation of TP53 Activity 66
Show member pathways
 13.16 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
6
TCR Signaling (Qiagen) 64
Show member pathways
 13.1 ATM ATR BRCA1 CHEK2 MRE11 NBN
7
DNA Damage 4
12.92 APTX ATM ATR BRCA1 CDKN1A CHEK1
8
Chks in Checkpoint Regulation 64
Show member pathways
 12.85 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
9
Cell Cycle Checkpoints 66
Show member pathways
 12.84 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
10
Meiosis 66
Show member pathways
 12.7 ATM ATR BRCA1 MRE11 NBN RAD50
11
Mitotic G1-G1/S phases 66
Show member pathways
 12.66 ATM CDKN1A PCNA RPA1 RPA2 TP53
12
SUMOylation 66
Show member pathways
 12.62 BRCA1 PCNA RPA1 TP53 TP53BP1
13
DNA Double Strand Break Response 66
Show member pathways
 12.6 ATM BRCA1 CHEK2 DCLRE1C MRE11 NBN
14
HTLV-I infection 37
12.59 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
15
Cell cycle 1 37
12.57 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
16
DNA Damage Response 1
Show member pathways
 12.55 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
17
Apoptosis Pathway 72
Show member pathways
 12.51 ATM ATR CHEK1 CHEK2 TP53
18
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.51 ATM ATR BRCA1 CHEK1 MRE11 NBN
19
MicroRNAs in cancer 37
12.5 ATM BRCA1 CDKN1A TP53
20
DNA Damage/Telomere Stress Induced Senescence 66
Show member pathways
 12.49 ATM CDKN1A MRE11 NBN RAD50 TP53
21
p53 Signaling 64
Show member pathways
 12.47 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
22
E2F mediated regulation of DNA replication 66
Show member pathways
 12.45 ATR CHEK1 PCNA RPA1 RPA2
23
Cellular senescence (KEGG) 37
12.42 ATM ATR CDKN1A CHEK1 CHEK2 MRE11
24
Integrated Breast Cancer Pathway 1
12.38 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
25
Cyclins and Cell Cycle Regulation 64
Show member pathways
 12.37 ATM ATR CDKN1A TP53
26
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 66
Show member pathways
 12.35 ATM BRCA1 MRE11 NBN RAD50 RPA1
27
Cell cycle Role of SCF complex in cell cycle regulation 22
Show member pathways
 12.25 BRCA1 CDKN1A CHEK1 CHEK2
28
Cellular response to heat stress 66
Show member pathways
 12.23 ATM ATR RPA1 RPA2
29
SMAD Signaling Network 64
12.09 ATM ATR CDKN1A TP53
30
Retinoblastoma (RB) in Cancer 1
12.09 CDKN1A CHEK1 NPAT PCNA PRKDC RPA1
31
ATM Pathway 64
Show member pathways
 12.01 ATM BRCA1 CDKN1A CHEK1 CHEK2 MRE11
32
Fanconi anemia pathway 66 37
11.96 ATR BRCA1 RPA1 RPA2
33
Senescence and Autophagy in Cancer 1
11.92 CDKN1A PCNA TP53
34
TP53 Regulates Transcription of Cell Cycle Genes 66
Show member pathways
 11.91 CDKN1A PCNA TP53
35
Pathways Affected in Adenoid Cystic Carcinoma 1
11.91 ATM BRCA1 CHEK1 CHEK2 PRKDC TP53
36
Mismatch repair 37 66 1
Show member pathways
 11.89 PCNA RPA1 RPA2
37
Platinum drug resistance 37
11.84 ATM BRCA1 CDKN1A TP53
38
p53 pathway 1
11.82 ATM ATR CHEK1 CHEK2 TP53
39
Regulation of Telomerase 1
11.79 ATM MRE11 NBN RAD50
40
E2F transcription factor network 1
11.75 ATM BRCA1 CDKN1A
41
Regulation of TP53 Expression and Degradation 66
Show member pathways
 11.75 ATM CHEK2 TP53
42
BRCA1 Pathway 64
Show member pathways
 11.73 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
43
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 22
Show member pathways
 11.69 ATM ATR CHEK1 CHEK2 TP53
44
ATM Signaling Network in Development and Disease 1
11.68 ATM ATR CHEK1 CHEK2 DCLRE1C MRE11
45
Hepatitis C and Hepatocellular Carcinoma 1
11.58 BRCA1 CDKN1A TP53
46
miRNAs involved in DNA damage response 1
11.57 ATM CDKN1A TP53
47
GADD45 Pathway 64
11.57 ATM ATR BRCA1 CDKN1A PCNA TP53
48
DNA damage_NHEJ mechanisms of DSBs repair 22
11.42 BRCA1 DCLRE1C MRE11 NBN PRKDC RAD50
49
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 61
11.37 ATM ATR CHEK1 CHEK2 PRKDC
50
BARD1 signaling events 1
11.37 ATM ATR BRCA1 MRE11 NBN PCNA
Sources

GO Terms for Ataxia-Telangiectasia

About this section

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.97 BRCA1 CDKN1A CHEK1 PRKDC TP53
2 chromosome GO:0005694 9.93 ATR BRCA1 MRE11 NBN RAD50 TP53BP1
3 nuclear body GO:0016604 9.91 CDKN1A PCNA RPA2 TP53 TP53BP1
4 chromatin GO:0000785 9.8 APTX CHEK1 MRE11 RPA2
5 PML body GO:0016605 9.8 ATR CHEK2 MRE11 NBN RPA1 RPA2
6 site of double-strand break GO:0035861 9.77 MRE11 NBN RAD50 RPA2 TP53BP1
7 replication fork GO:0005657 9.72 CHEK1 NBN PCNA TP53 TP53BP1
8 condensed nuclear chromosome GO:0000794 9.7 BRCA1 CHEK1 RAD50
9 Mre11 complex GO:0030870 9.61 MRE11 NBN RAD50
10 DNA replication factor A complex GO:0005662 9.57 RPA1 RPA2
11 chromosome, telomeric region GO:0000781 9.56 ATM CHEK1 CHEK2 MRE11 NBN RAD50
12 nonhomologous end joining complex GO:0070419 9.55 DCLRE1C PRKDC
13 DNA repair complex GO:1990391 9.54 ATM TP53BP1
14 PCNA-p21 complex GO:0070557 9.48 CDKN1A PCNA
15 nuclear chromosome, telomeric region GO:0000784 9.36 ATM ATR DCLRE1C MRE11 NBN PCNA
16 nucleus GO:0005634 10.36 APTX ATM ATR BRCA1 CDKN1A CHEK1
17 nucleoplasm GO:0005654 10.11 APTX ATM ATR BRCA1 CDKN1A CHEK1
18 nucleolus GO:0005730 10.03 APTX ATM CDKN1A NBN PRKDC TP53

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 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.99 APTX DCLRE1C MRE11 RAD50
2 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.97 ATM CDKN1A CHEK2 PCNA TP53
3 double-strand break repair GO:0006302 9.97 APTX BRCA1 CHEK2 DCLRE1C MRE11 NBN
4 DNA synthesis involved in DNA repair GO:0000731 9.95 ATM BRCA1 MRE11 NBN RAD50
5 regulation of cellular response to heat GO:1900034 9.94 ATM ATR RPA1 RPA2
6 response to ionizing radiation GO:0010212 9.93 ATM BRCA1 DCLRE1C PRKDC
7 DNA damage checkpoint GO:0000077 9.93 ATR CHEK1 CHEK2 NBN TP53BP1
8 G1/S transition of mitotic cell cycle GO:0000082 9.92 CDKN1A RPA1 RPA2
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.92 ATM BRCA1 CHEK2 PRKDC
10 interstrand cross-link repair GO:0036297 9.92 ATR DCLRE1C RPA1 RPA2
11 cellular response to gamma radiation GO:0071480 9.92 ATM ATR CDKN1A CHEK2 TP53
12 strand displacement GO:0000732 9.91 ATM BRCA1 MRE11 NBN RAD50
13 replicative senescence GO:0090399 9.91 ATM ATR CDKN1A CHEK1 CHEK2 TP53
14 transcription-coupled nucleotide-excision repair GO:0006283 9.9 PCNA RPA1 RPA2
15 positive regulation of kinase activity GO:0033674 9.9 MRE11 NBN RAD50
16 base-excision repair GO:0006284 9.9 MRE11 RPA1 RPA2 TP53
17 regulation of signal transduction by p53 class mediator GO:1901796 9.9 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
18 DNA duplex unwinding GO:0032508 9.89 MRE11 NBN RAD50
19 cellular response to UV GO:0034644 9.89 ATR PCNA TP53
20 nucleotide-excision repair GO:0006289 9.88 RPA1 RPA2 TP53
21 DNA damage response, detection of DNA damage GO:0042769 9.88 PCNA RPA1 RPA2
22 nucleotide-excision repair, DNA incision GO:0033683 9.88 PCNA RPA1 RPA2
23 DNA double-strand break processing GO:0000729 9.88 ATM BRCA1 MRE11 NBN RAD50
24 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.87 PCNA RPA1 RPA2
25 translesion synthesis GO:0019985 9.87 PCNA RPA1 RPA2
26 mismatch repair GO:0006298 9.87 PCNA RPA1 RPA2
27 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.87 BRCA1 CDKN1A CHEK2 TP53
28 reciprocal meiotic recombination GO:0007131 9.86 ATM MRE11 RAD50
29 response to gamma radiation GO:0010332 9.86 CHEK2 PRKDC TP53
30 intrinsic apoptotic signaling pathway GO:0097193 9.86 CDKN1A NBN TP53
31 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.85 CDKN1A CHEK2 TP53
32 telomere capping GO:0016233 9.85 NBN PRKDC RAD50
33 telomere maintenance via semi-conservative replication GO:0032201 9.83 PCNA RPA1 RPA2
34 nucleotide-excision repair, DNA gap filling GO:0006297 9.83 PCNA RPA1 RPA2
35 positive regulation of protein autophosphorylation GO:0031954 9.83 MRE11 NBN RAD50
36 error-prone translesion synthesis GO:0042276 9.82 PCNA RPA1 RPA2
37 error-free translesion synthesis GO:0070987 9.82 PCNA RPA1 RPA2
38 V(D)J recombination GO:0033151 9.81 ATM DCLRE1C PRKDC
39 positive regulation of telomere maintenance GO:0032206 9.79 MRE11 NBN RAD50
40 DNA damage induced protein phosphorylation GO:0006975 9.78 ATM CHEK1 CHEK2
41 negative regulation of telomere capping GO:1904354 9.77 ATM NBN RAD50
42 telomeric 3 overhang formation GO:0031860 9.76 MRE11 NBN RAD50
43 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.74 NBN TP53
44 determination of adult lifespan GO:0008340 9.74 ATM TP53
45 DNA ligation GO:0006266 9.74 APTX PCNA
46 cellular response to X-ray GO:0071481 9.74 ATM TP53BP1
47 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.73 ATM ATR
48 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.73 BRCA1 CHEK1
49 signal transduction in response to DNA damage GO:0042770 9.73 CHEK2 NBN
50 mitotic G1 DNA damage checkpoint GO:0031571 9.73 RPA2 TP53

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.97 ATM ATR CDKN1A CHEK1 CHEK2 PRKDC
2 protein kinase activity GO:0004672 9.96 ATM ATR CHEK1 CHEK2 PRKDC
3 DNA binding GO:0003677 9.93 APTX ATM ATR BRCA1 MRE11 PCNA
4 protein serine/threonine kinase activity GO:0004674 9.92 ATM ATR CHEK1 CHEK2 PRKDC
5 nucleotide binding GO:0000166 9.91 ATM ATR CHEK1 CHEK2 RAD50
6 enzyme binding GO:0019899 9.85 BRCA1 PCNA PRKDC RPA2 TP53
7 ubiquitin protein ligase binding GO:0031625 9.8 BRCA1 CDKN1A CHEK2 RPA2 TP53
8 single-stranded DNA binding GO:0003697 9.74 APTX RPA1 RPA2
9 p53 binding GO:0002039 9.71 TP53 TP53BP1 TRIM29
10 G-rich strand telomeric DNA binding GO:0098505 9.55 RPA1 RPA2
11 ATP-dependent DNA helicase activity GO:0004003 9.54 MRE11 NBN RAD50
12 MutLalpha complex binding GO:0032405 9.48 ATR PCNA
13 DNA-dependent protein kinase activity GO:0004677 9.43 ATM PRKDC
14 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.43 DCLRE1C MRE11 RAD50
15 protein N-terminus binding GO:0047485 9.43 APTX ATM NBN NPAT RPA2 TP53
16 damaged DNA binding GO:0003684 9.28 APTX BRCA1 DCLRE1C NBN PCNA RPA1
17 protein binding GO:0005515 10.3 APTX ATM ATR BRCA1 CDKN1A CHEK1
Sources

Sources for Ataxia-Telangiectasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....