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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 56 24 25 58 73 13 37 39
Ataxia Telangiectasia 12 74 52 53 73 36 54 42 43 15 71
Louis-Bar Syndrome 56 74 52 25 58 73
at 56 52 73
Ataxia-Telangiectasia Syndrome 29 6
At1 56 73
Immunodeficiency with Ataxia Telangiectasia 52
Telangiectasia, Cerebello-Oculocutaneous 25
Cerebello-Oculocutaneous Telangiectasia 52
Ataxia Telangiectasia Syndrome 25
Ataxia-Telangiectasia Variant 71
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
a-T 25
Atm 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:

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: 33
Orphanet: 58  
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
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. Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals. People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.

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, myoclonus and tremor. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Homologous recombination and Cell cycle. The drugs Estradiol and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and t cells, and related phenotypes are recurrent respiratory infections and delayed puberty

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has material basis in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.

NIH Rare Diseases : 52 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 : 56 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 : 42 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

NINDS : 53 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.

KEGG : 36 Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control.

UniProtKB/Swiss-Prot : 73 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 : 74 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 7811)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 35.3 NBN MRE11
2 nijmegen breakage syndrome 33.6 TP53 RPA1 RAD50 RAD17 NBN MRE11
3 telangiectasis 33.2 NBN CHEK2 ATM
4 rare breast tumor 32.2 TP53 CHEK2 BRCA1 ATM
5 bile duct cystadenoma 32.2 CHEK2 ATM
6 maxillary sinus adenocarcinoma 32.1 TP53 ATM
7 cervical adenoma malignum 32.0 TP53 CHEK2 BRCA1 ATM
8 nephrolithiasis/osteoporosis, hypophosphatemic, 2 31.9 BRCA1 ATM
9 cowden syndrome 31.9 TP53 CHEK2 BRCA1 ATM
10 fallopian tube carcinoma 31.8 TP53 MRE11 BRCA1
11 oral leukoplakia 31.8 TP53 PCNA
12 congenital myasthenic syndrome 31.5 TP53 RPA1 FAS-AS1 BRCA1
13 lynch syndrome 31.5 TP53 RAD50 NBN MRE11 CHEK2 BRCA1
14 prolymphocytic leukemia 31.4 TP53 CHEK2 ATM
15 alpha-thalassemia/mental retardation syndrome, x-linked 31.4 TP53 RPA1 RAD50 PRKDC NBN MRE11
16 bloom syndrome 31.3 H2AX BRCA1 ATM
17 xeroderma pigmentosum, complementation group a 31.2 TP53 RPA2 RPA1 ATM
18 primary autosomal recessive microcephaly 31.2 TP53BP1 CHEK1 BRCA1 ATR ATM
19 ovarian carcinosarcoma 30.9 TP53 BRCA1
20 bilateral breast cancer 30.9 CHEK2 BRCA1 ATM
21 female breast cancer 30.9 TP53 BRCA1 ATM
22 sporadic breast cancer 30.8 TP53 NBN CHEK2 BRCA1 ATM
23 li-fraumeni syndrome 30.8 TP53 MRE11 CHEK2 CHEK1 BRCA1 ATM
24 werner syndrome 30.8 TP53 RPA1 PRKDC NBN MRE11 BRCA1
25 microcephaly 30.7 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
26 riddle syndrome 30.6 TP53BP1 H2AX BRCA1
27 mutagen sensitivity 30.5 TP53 BRCA1
28 hutchinson-gilford progeria syndrome 30.4 TP53BP1 TP53 PRKDC H2AX ATM
29 suppression of tumorigenicity 12 30.4 TP53 CHEK2 BRCA1 ATM
30 lig4 syndrome 30.3 TP53BP1 PRKDC NBN MRE11 ATM APTX
31 hereditary breast ovarian cancer syndrome 30.2 TP53 RAD50 NBN MRE11 CHEK2 BRCA1
32 bladder urothelial carcinoma 30.2 TP53BP1 TP53 RPA2 RPA1 PCNA
33 xeroderma pigmentosum, variant type 30.1 TP53BP1 TP53 RPA2 RPA1 RAD17 PRKDC
34 fanconi anemia, complementation group a 30.1 TP53BP1 TP53 RPA2 RAD50 RAD17 PRKDC
35 ovarian cancer 30.0 TP53BP1 TP53 RAD50 NBN MRE11 H2AX
36 ovary adenocarcinoma 30.0 TP53 BRCA1 ATM
37 vulvar intraepithelial neoplasia 29.8 TP53 H2AX
38 endosalpingiosis 29.8 TP53 BRCA1
39 melanoma, cutaneous malignant 1 29.7 TP53 RAD17 CHEK2 BRCA1 ATM
40 autosomal recessive cerebellar ataxia 29.5 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
41 severe combined immunodeficiency with sensitivity to ionizing radiation 29.3 TP53BP1 PRKDC ATM
42 ovarian serous cystadenocarcinoma 29.2 TP53 BRCA1 ATM
43 seckel syndrome 29.2 TP53BP1 TP53 RPA2 RAD50 RAD17 PRKDC
44 myasthenic syndrome, congenital, 6, presynaptic 29.0 TP53 RPA1 FAS-AS1 BRCA1
45 ataxia-telangiectasia-like disorder 2 12.8
46 ataxia-telangiectasia with generalized skin pigmentation and early death 12.5
47 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.4
48 menarche, age at, quantitative trait locus 1 12.4
49 menopause, natural, age at, quantitative trait locus 1 12.4
50 menopause, natural, age at, quantitative trait locus 2 12.4

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



Diseases related to Ataxia-Telangiectasia
Sources

Symptoms & Phenotypes for Ataxia-Telangiectasia

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Human phenotypes related to Ataxia-Telangiectasia:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
6 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
7 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
8 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
9 mucosal telangiectasiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0100579
10 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
11 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
12 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
13 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
14 abnormality of chromosome stability 58 31 hallmark (90%) Very frequent (99-80%) HP:0003220
15 cellular immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0005374
16 aplasia/hypoplasia of the thymus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010515
17 decreased circulating antibody level 31 hallmark (90%) HP:0004313
18 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
19 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
20 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
21 neoplasm 58 31 frequent (33%) Frequent (79-30%) HP:0002664
22 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
23 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
24 seizure 31 frequent (33%) HP:0001250
25 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
26 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
27 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
28 abnormal testis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000035
29 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
30 aplasia/hypoplasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008065
31 diabetes mellitus 58 31 Frequent (79-30%) HP:0000819
32 seizures 58 Frequent (79-30%)
33 neurological speech impairment 58 Very frequent (99-80%)
34 immunodeficiency 58 Very frequent (99-80%)
35 sinusitis 31 HP:0000246
36 myoclonus 31 HP:0001336
37 abnormality of movement 58 Very frequent (99-80%)
38 glucose intolerance 31 HP:0001952
39 decreased antibody level in blood 58 Very frequent (99-80%)
40 reduced tendon reflexes 31 HP:0001315
41 conjunctival telangiectasia 31 HP:0000524
42 abnormality of eye movement 58 Very frequent (99-80%)
43 abnormality of the immune system 58 Very frequent (99-80%)
44 prematurely aged appearance 58 Very frequent (99-80%)
45 leukemia 31 HP:0001909
46 lymphoma 31 HP:0002665
47 hypoplasia of the thymus 31 HP:0000778
48 dystonia 31 HP:0001332
49 elevated alpha-fetoprotein 31 HP:0006254
50 choreoathetosis 31 HP:0001266

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
myoclonus
tremor
dystonia
choreoathetosis
more
Endocrine Features:
delayed puberty
glucose intolerance
diabetes mellitus

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

Genitourinary Internal Genitalia Female:
hypogonadism

Immunology:
defective b cell differentiation
thymus hypoplasia
normal numbers of b cells
lymphocytopenia
reduced numbers of t cells
more
Skin Nails Hair Hair:
progeric hair changes

Growth Height:
short stature

Head And Neck Head:
sinusitis

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

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

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

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.81 RPA2
2 Decreased viability GR00221-A-1 10.81 CHEK1 RPA2
3 Decreased viability GR00221-A-2 10.81 BRCA1 CHEK1 CHEK2 RPA2
4 Decreased viability GR00221-A-3 10.81 BRCA1 CHEK1 ATM CHEK2 RPA2
5 Decreased viability GR00221-A-4 10.81 CHEK1 ATM CHEK2
6 Decreased viability GR00240-S-1 10.81 CHEK1
7 Decreased viability GR00249-S 10.81 ATR CHEK1 RPA1
8 Decreased viability GR00301-A 10.81 ATR BRCA1 CHEK1 RPA1
9 Decreased viability GR00342-S-2 10.81 CHEK2
10 Decreased viability GR00381-A-1 10.81 CHEK1
11 Decreased viability GR00386-A-1 10.81 CHEK1 RPA1
12 Decreased viability GR00402-S-2 10.81 CHEK1 RPA1 RPA2
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.38 ATM CHEK2 PCNA PRKDC TP53
14 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.38 ATM ATR BRCA1 CHEK1 CHEK2 NBN
15 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.38 ATM BRCA1 H2AX MRE11 NBN RAD17
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.21 ATR BRCA1 CHEK1 H2AX MRE11 NBN
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.21 ATM ATR BRCA1 CHEK1 H2AX MRE11
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
19 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.8 ATM ATR CHEK1 CHEK2
20 Decreased viability after gemcitabine stimulation GR00107-A-2 9.76 ATM ATR CHEK1 PRKDC
21 Reduced mammosphere formation GR00396-S 9.7 ATM ATR CHEK1 PCNA PRKDC RAD17
22 Decreased viability after ionizing radiation GR00232-A-2 9.61 ATM BRCA1 PRKDC
23 Decreased viability with cisplatin GR00101-A-4 9.58 ATR BRCA1 RPA1
24 Increased cell death in HCT116 cells GR00103-A-0 9.37 ATR PCNA
25 Increased viability with nutlin-3 GR00123-A 9.26 TP53 TP53BP1
26 Synthetic lethal with cisplatin GR00101-A-1 9.13 ATR BRCA1 CHEK1

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 APTX ATM ATR BRCA1 CHEK1 CHEK2
2 endocrine/exocrine gland MP:0005379 10.29 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
3 growth/size/body region MP:0005378 10.27 ATM ATR BRCA1 H2AX NBN NPAT
4 hematopoietic system MP:0005397 10.25 ATM ATR BRCA1 CHEK2 H2AX MRE11
5 homeostasis/metabolism MP:0005376 10.25 APTX ATM ATR BRCA1 CHEK1 CHEK2
6 cardiovascular system MP:0005385 10.22 ATM ATR BRCA1 CHEK1 H2AX MRE11
7 mortality/aging MP:0010768 10.22 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
8 immune system MP:0005387 10.21 ATM ATR BRCA1 CHEK2 H2AX MRE11
9 embryo MP:0005380 10.19 ATM ATR BRCA1 CHEK1 MRE11 NBN
10 adipose tissue MP:0005375 10.08 ATM ATR BRCA1 PCNA PRKDC TP53
11 neoplasm MP:0002006 10.07 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
12 nervous system MP:0003631 9.93 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
13 reproductive system MP:0005389 9.47 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
14 pigmentation MP:0001186 9.43 ATR BRCA1 CHEK1 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 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Amantadine Approved Phase 4 768-94-5 2130
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8 Adrenergic alpha-Agonists Phase 4
9 Estradiol 17 beta-cypionate Phase 4
10 Antihypertensive Agents Phase 4
11 Adrenergic Agents Phase 4
12 Estradiol 3-benzoate Phase 4
13 Contraceptive Agents Phase 4
14 Sympatholytics Phase 4
15 Adrenergic Agonists Phase 4
16 Estrogens Phase 4
17 Neurotransmitter Agents Phase 4
18 Dopamine Agents Phase 4
19 Antiparkinson Agents Phase 4
20 Hypoglycemic Agents Phase 4
21
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
22
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
23
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
24 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
25 Vaccines Phase 3
26 BB 1101 Phase 3
27 Pharmaceutical Solutions Phase 3
28
Caspofungin Approved Phase 2 162808-62-0, 179463-17-3 2826718 468682
29
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
30
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
31
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
32
Olaparib Approved Phase 2 763113-22-0 23725625
33
Lomustine Approved, Investigational Phase 1, Phase 2 13010-47-4 3950
34
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
35
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
36
chloroquine Approved, Investigational, Vet_approved Phase 2 54-05-7 2719
37
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
38
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
39
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
40
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
41
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
42
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
43
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 38904 498142
44
Tyrosine Approved, Investigational, Nutraceutical Phase 1, Phase 2 60-18-4 6057
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
46
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
47 Mitogens Phase 2
48 Albumin-Bound Paclitaxel Phase 1, Phase 2
49 topoisomerase I inhibitors Phase 1, Phase 2
50 Alkylating Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
3 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
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 Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients With Ataxia Telangiectasia 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 A Multicenter, Open, Phase II Study to Estimate the Activity and Safety of Caspofungin (CASP) in the First-Line Treatment of Probable and Proven Invasive Aspergillosis (IA) in Patients With Hematological Malignancies (HM) or Recipients of Autologous Haematopoietic Stem Cell Transplantation and Those With Allogeneic Haematopoietic Stem Cell Transplantation (HSCT) Completed NCT00110045 Phase 2 caspofungin acetate
8 Phase I/II Study of EBV-LMP1 Targeted DNAzyme in Nasopharyngeal Carcinoma Completed NCT01449942 Phase 1, Phase 2
9 Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study Recruiting NCT03759678 Phase 2 IB1001
10 A Phase 1/2 Proof-of-Concept Study Investigating AZD6738 Monotherapy and Acalabrutinib in Combination With AZD6738 (ATR Inhibitor) in Subjects With Relapsed or Refractory High-risk Chronic Lymphocytic Leukemia (CLL) Recruiting NCT03328273 Phase 1, Phase 2 Ceralasertib;Acalabrutinib
11 A PHASE 2 STUDY TO EVALUATE SAFETY AND ANTI-TUMOR ACTIVITY OF AVELUMAB IN COMBINATION WITH TALAZOPARIB IN PATIENTS WITH BRCA OR ATM MUTANT TUMORS Recruiting NCT03565991 Phase 2 Avelumab;Talazoparib
12 Phase 1/2 Study of 9-ING-41, a Glycogen Synthase Kinase-3 Beta (GSK-3β) Inhibitor, as a Single Agent and Combined With Chemotherapy, in Patients With Refractory Hematologic Malignancies or Solid Tumors Recruiting NCT03678883 Phase 1, Phase 2 9-ING-41;Gemcitabine - 21 day cycle;Doxorubicin.;Lomustine;Carboplatin.;Nab paclitaxel.;Paclitaxel.;Gemcitabine - 28 day cycle;Irinotecan
13 A Phase II, Open Label, Randomised, Multi-centre Study to Assess the Safety and Efficacy of Agents Targeting DNA Damage Repair in Combination With Olaparib Versus Olaparib Monotherapy in the Treatment of Metastatic Triple Negative Breast Cancer Patients Stratified by Alterations in Homologous Recombinant Repair (HRR)-Related Genes (Including BRCA1/2) (VIOLETTE). Recruiting NCT03330847 Phase 2 Olaparib Continuous (28-Day cycle) 300 mg BD.;AZD6738 160 mg OD + olaparib continuous 300 mg BD (28-day cycle).;Adavosertib 150 mg BD + olaparib 200 mg BD (21-day cycle).
14 Genotoxic Stress, Atherosclerosis, and Metabolic Syndrome-AIM 2 Active, not recruiting NCT00455325 Phase 2 Placebo Comparator Limb 1;Chloroquine;Chloroquine;Chloroquine
15 A Phase 1-2 Study of Sirolimus, Docetaxel and Carboplatin for Treatment of Patients With Metastatic, Castration Resistant Prostate Cancer: (Rapamycin Inhibition of DDSP [RID]) Active, not recruiting NCT02565901 Phase 1, Phase 2 Carboplatin;Docetaxel;Sirolimus
16 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Enrolling by invitation NCT03962114 Phase 2
17 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
18 A Phase IB and Randomized Open-Label Phase II Study of M6620 in Combination With Carboplatin/Gemcitabine/Avelumab in Patients With Chemotherapy-Naive Advanced Non-Small Cell Lung Cancer of Squamous Cell Histology Not yet recruiting NCT04216316 Phase 1, Phase 2 Avelumab;Berzosertib;Carboplatin;Gemcitabine;Gemcitabine Hydrochloride
19 A Phase II Efficacy Study of MK-4827 in Patients With Mantle Cell Lymphoma Withdrawn NCT01244009 Phase 2 MK-4827
20 Phase I Study of ABT-888 in Combination With Gemcitabine in Patients With Advanced Malignancies Completed NCT01154426 Phase 1 Gemcitabine Hydrochloride;Veliparib
21 An Open-label, First-in-human, Dose-escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Maximum Tolerated Dose and / or Recommended Phase II Dose of the ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344
22 A Phase 1 Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Antitumor Activity of Ascending Doses of Combined Therapy With ATR Inhibitor AZD6738 and Gemcitabine, Using a Model Based Design. Recruiting NCT03669601 Phase 1 AZD6738;Gemcitabine
23 A Multicenter, Non-randomized, Open-label Phase 1b Study to Determine the Maximum Tolerated and Recommended Phase 2 Dose of the ATR Inhibitor BAY1895344 in Combination With Pembrolizumab and to Characterize Its Safety, Tolerability, Pharmacokinetics and Preliminary Anti-tumor Activity in Patients With Advanced Solid Tumors Recruiting NCT04095273 Phase 1 BAY1895344;Pembrolizumab
24 A Phase I, Multicentre Study to Assess the Safety, Tolerability, and Pharmacokinetics of Ascending Doses of AZD1390 in Combination With Radiation Therapy in Patients With Glioblastoma Multiforme and Brain Metastases From Solid Tumors Recruiting NCT03423628 Phase 1 AZD1390
25 Phase I Study of Veliparib (ABT-888), an Oral PARP Inhibitor, and VX-970, an ATR Inhibitor, in Combination With Cisplatin in Patients With Refractory Solid Tumors Recruiting NCT02723864 Phase 1 Veliparib + VX-970 + Cisplatin
26 A Rollover Study to Provide Continued Treatment With M6620 Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
27 Phase IB Trial of Radium-223 and Niraparib in Patients With Castrate Resistant Prostate Cancer (NiraRad) Active, not recruiting NCT03076203 Phase 1 Niraparib
28 A Phase I Study of ABT-888 in Combination With Topotecan Plus Carboplatin for High-Risk Myeloproliferative Disorders and AML Out of Myeloproliferative Disorders Active, not recruiting NCT00588991 Phase 1 Carboplatin;Topotecan Hydrochloride;Veliparib
29 A Clinical Trial to Investigate Biomarker Effects of Pre-Surgical Treatment With DDR Agents in Patients With Head and Neck Squamous Cell Carcinoma (HNSCC) Who Are Planned to Undergo Surgery That is Likely to be Followed by Radiotherapy and/or Chemotherapy. Active, not recruiting NCT03022409 Phase 1 Ceralasertib;Olaparib
30 Trial of M4344 and Niraparib in Patients With PARP Resistant Recurrent Ovarian Cancer Not yet recruiting NCT04149145 Phase 1 M4344+Niraparib;M4344+Niraparib
31 The Validity of Forced Expiratory Maneuvers in Ataxia Teleangiectasia Studied Longitudinally Unknown status NCT00951886
32 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of Patients With Ataxia Telangiectasia Unknown status NCT02285348
33 Descriptive Immunogenicity of 2 Doses of Pneumococcal 7-valent Conjugate Vaccine (Prevenar®, Wyeth Lederle) Followed by Pneumococcal Polysaccharide Vaccine (Pneumovax® Aventis Pasteur MSD) in Ataxia-telangiectasia Patients Unknown status NCT01075438
34 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia With and Without Substitution of Immunoglobulin G: a Prospective Observational Study Unknown status NCT03357978
35 APPLICABILITY OF THE INTERNATIONAL ATAXIA RATING SCALE (ICARS) IN YOUNGER PATIENTS AND DEVELOPMENT OF GLOBAL RATING INSTRUMENTS FOR PATIENTS WITH ATAXIA TELANGIECTASIA (AT) Completed NCT01942850
36 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
37 Susceptibility to Infections in Patients With Ataxia Telangiectasia : A Prospective Follow-up Study Completed NCT02345135
38 Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls Completed NCT02345200
39 Pilot Study I for Treatment of Cancer in Children With Ataxia-Telangiectasia Completed NCT00187057 vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
40 Genotoxic Stress, Atherosclerosis, and Metabolic Syndrome- Aim 3 Completed NCT00455403 Chloroquine;Placebo Comparator
41 Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia- A Retrospective Study Recruiting NCT04037189
42 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
43 A Pilot Study of Docetaxel and Carboplatin for Treatment of Patients With Metastatic, Castration Resistant Prostate Cancer Containing Biallelic Inactivation of Genes in the BRCA1/2 Pathway Recruiting NCT02598895 Carboplatin;Docetaxel
44 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
45 Derivation of Induced Pluripotent Stem Cells From Somatic Cells Donated by Patients With Neurological Diseases for the Study of the Pathogenesis of the Disorders and Development of Novel Therapies Recruiting NCT00874783
46 Identification of the Predisposing Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Terminated NCT02857894
47 Induced Pluripotent Stem (iPS) Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Terminated NCT02246491
48 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Withdrawn NCT02309632

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ataxia-Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia-Telangiectasia:
Renexus (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

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Genetic tests related to Ataxia-Telangiectasia:

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

Anatomical Context for Ataxia-Telangiectasia

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MalaCards organs/tissues related to Ataxia-Telangiectasia:

40
Breast, Lung, T Cells, Skin, Eye, Brain, Prostate
Sources

Publications for Ataxia-Telangiectasia

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Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 6375)
# Title Authors PMID Year
1
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 24 6 56 61
22345219 2012
2
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. 61 56 24 6
11826028 2002
3
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 56 24 6 61
9497252 1998
4
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 61 6 24 56
9463314 1998
5
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 24 61 56 6
2491181 1989
6
ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. 6 56 54 61
10677309 2000
7
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. 54 61 56 6
9600235 1998
8
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 61 6 56
10980530 2000
9
Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 56 6 61
9887333 1999
10
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 61 6 56
7792600 1995
11
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations. 56 61 6
6504056 1984
12
Clinical spectrum of ataxia-telangiectasia in adulthood. 56 24 61
19535770 2009
13
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. 61 6 24
16958054 2006
14
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. 61 24 56
16832357 2006
15
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. 61 24 56
16864838 2006
16
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. 24 61 6
15174027 2004
17
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. 6 24 61
15054841 2004
18
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 56 61 24
10612394 1999
19
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. 24 56 61
9682216 1998
20
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. 56 61 24
9259193 1997
21
Mutations associated with variant phenotypes in ataxia-telangiectasia. 24 61 6
8755918 1996
22
Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 61 24 56
1377828 1992
23
Incidence of cancer in 161 families affected by ataxia-telangiectasia. 61 56 24
1961222 1991
24
The CpG dinucleotide and human genetic disease. 56 6
3338800 1988
25
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. 56 61 54
19414482 2009
26
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 6 61 54
9443866 1998
27
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 54 61 6
9792409 1998
28
Heterozygous ATM mutations do not contribute to early onset of breast cancer. 56 54 61
9054948 1997
29
Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. 61 54 56
8843194 1996
30
A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. 61 54 56
1423616 1992
31
The ataxia-telangiectasia gene (ATA) on chromosome II is distinct from the ETS-1 gene. 56 61 54
1969227 1990
32
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 6 61
24418350 2014
33
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. 56 61
19440741 2010
34
Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia-telangiectasia cells. 61 24 54
19389472 2009
35
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. 61 56
18674748 2008
36
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 56 61
16266405 2005
37
Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasia. 56 61
16150740 2005
38
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. 56 61
15942625 2005
39
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. 61 6
14695534 2004
40
IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer. 6 61
12673794 2003
41
Comprehensive scanning of the ATM gene with DOVAM-S. 61 56
12552559 2003
42
Telomere dysfunction and Atm deficiency compromises organ homeostasis and accelerates ageing. 61 56
12540856 2003
43
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. 56 61
12497634 2003
44
Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. 56 61
12226795 2002
45
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. 61 24 54
12195425 2002
46
Atm heterozygous mice are more sensitive to radiation-induced cataracts than are their wild-type counterparts. 56 61
12119422 2002
47
A new type of mutation causes a splicing defect in ATM. 61 6
11889466 2002
48
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. 54 61 24
11586300 2001
49
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 54 24 61
11382771 2001
50
The Ataxia telangiectasia gene product is required for oxidative stress-induced G1 and G2 checkpoint function in human fibroblasts. 56 61
11290740 2001
Sources

Variations for Ataxia-Telangiectasia

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ClinVar genetic disease variations for Ataxia-Telangiectasia:

6 (show top 50) (show all 5094) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATM NC_000011.10:g.(?_108222832)_(108369099_?)deldeletion Pathogenic 417409 11:108093559-108239826 11:108222832-108369099
2 ATM NM_000051.3(ATM):c.1212_1213del (p.Gln404_Asn405insTer)deletion Pathogenic 407571 rs1060501609 11:108119805-108119806 11:108249078-108249079
3 ATM NM_000051.3(ATM):c.1939G>T (p.Glu647Ter)SNV Pathogenic 407556 rs1060501599 11:108124581-108124581 11:108253854-108253854
4 ATM NM_000051.3(ATM):c.3242_3245del (p.Asn1081fs)deletion Pathogenic 407535 rs1060501587 11:108143535-108143538 11:108272808-108272811
5 ATM NC_000011.10:g.(?_108289602)_(108289801_?)deldeletion Pathogenic 417412 11:108160329-108160528 11:108289602-108289801
6 ATM NM_000051.3(ATM):c.1446del (p.Lys482fs)deletion Pathogenic 407672 rs1060501670 11:108121635-108121635 11:108250908-108250908
7 ATM NM_001351834.2(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)indel Pathogenic 407473 rs1064792938 11:108160422-108160425 11:108289695-108289698
8 ATM NM_000051.3(ATM):c.992del (p.Lys331fs)deletion Pathogenic 407696 rs1060501684 11:108117779-108117779 11:108247052-108247052
9 ATM NM_000051.3(ATM):c.4800_4803del (p.Ser1601fs)deletion Pathogenic 407656 rs1060501659 11:108165674-108165677 11:108294947-108294950
10 ATM NM_000051.3(ATM):c.5249G>A (p.Trp1750Ter)SNV Pathogenic 407671 rs1060501669 11:108172446-108172446 11:108301719-108301719
11 ATM NM_000051.3(ATM):c.1333del (p.Gln445fs)deletion Pathogenic 407721 rs1060501701 11:108121522-108121522 11:108250795-108250795
12 ATM NM_000051.3(ATM):c.1514_1515del (p.Phe505fs)deletion Pathogenic 407455 rs1060501529 11:108121705-108121706 11:108250978-108250979
13 ATM NM_001330368.2(C11orf65):c.641-1196_641-1195deldeletion Pathogenic 407654 rs1060501657 11:108180993-108180994 11:108310266-108310267
14 ATM NM_000051.3(ATM):c.6272G>A (p.Trp2091Ter)SNV Pathogenic 407735 rs1060501712 11:108188173-108188173 11:108317446-108317446
15 ATM NM_000051.3(ATM):c.2554C>T (p.Gln852Ter)SNV Pathogenic 407450 rs758081262 11:108137985-108137985 11:108267258-108267258
16 ATM NM_000051.3(ATM):c.2775del (p.Lys926fs)deletion Pathogenic 407722 rs1060501702 11:108139272-108139272 11:108268545-108268545
17 ATM NM_000051.3(ATM):c.2985_2988del (p.Leu995_His996insTer)deletion Pathogenic 407557 rs1060501600 11:108142040-108142043 11:108271313-108271316
18 ATM NM_000051.3(ATM):c.3214G>T (p.Glu1072Ter)SNV Pathogenic 407699 rs1060501687 11:108143509-108143509 11:108272782-108272782
19 ATM NM_000051.3(ATM):c.3450_3454del (p.Arg1150fs)deletion Pathogenic 407679 rs1060501676 11:108151769-108151773 11:108281042-108281046
20 ATM NM_000051.3(ATM):c.4522dup (p.Tyr1508fs)duplication Pathogenic 407527 rs1555099888 11:108163429-108163430 11:108292702-108292703
21 ATM NM_000051.3(ATM):c.4036G>T (p.Glu1346Ter)SNV Pathogenic 407454 rs1060501528 11:108158369-108158369 11:108287642-108287642
22 ATM NM_000051.3(ATM):c.4906C>T (p.Gln1636Ter)SNV Pathogenic 407602 rs1060501627 11:108165783-108165783 11:108295056-108295056
23 ATM NM_000051.3(ATM):c.8319_8323dup (p.Pro2775fs)duplication Pathogenic 407483 rs1555135596 11:108213997-108213998 11:108343270-108343271
24 ATM NM_001330368.2(C11orf65):c.641-34204_641-34203delinsTindel Pathogenic 407605 rs1060501630 11:108214001-108214002 11:108343274-108343275
25 ATM NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter)SNV Pathogenic 407464 rs1060501536 11:108196122-108196122 11:108325395-108325395
26 ATM NM_001330368.2(C11orf65):c.641-16395_641-16394deldeletion Pathogenic 407472 rs1060501543 11:108196192-108196193 11:108325465-108325466
27 ATM NC_000011.10:g.(?_108243953)_(108369099_?)deldeletion Pathogenic 417408 11:108114680-108239826 11:108243953-108369099
28 ATM NC_000011.10:g.(?_108297287)_(108335961_?)deldeletion Pathogenic 417410 11:108168014-108206688 11:108297287-108335961
29 ATM NC_000011.10:g.(?_108325310)_(108369099_?)deldeletion Pathogenic 417405 11:108196037-108239826 11:108325310-108369099
30 ATM NM_000051.3(ATM):c.8880G>A (p.Trp2960Ter)SNV Pathogenic 407645 rs1060501650 11:108235838-108235838 11:108365111-108365111
31 ATM NC_000011.10:g.(?_108280995)_(108289801_?)deldeletion Pathogenic 417587 11:108151722-108160528 11:108280995-108289801
32 ATM NC_000011.10:g.(?_108343222)_(108369099_?)deldeletion Pathogenic 417406 11:108213949-108239826 11:108343222-108369099
33 ATM NM_000051.3(ATM):c.710del (p.Thr237fs)deletion Pathogenic 407633 rs1060501642 11:108115562-108115562 11:108244835-108244835
34 ATM NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter)SNV Pathogenic 407734 rs1060501711 11:108150253-108150253 11:108279526-108279526
35 ATM NM_000051.3(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)indel Pathogenic 407685 rs1060501679 11:108139152-108139154 11:108268425-108268427
36 ATM NM_001351834.2(ATM):c.5679_5680AG[1] (p.Glu1894fs)short repeat Pathogenic 407525 rs1060501580 11:108178628-108178629 11:108307901-108307902
37 ATM NM_001351834.2(ATM):c.3206del (p.Pro1069fs)deletion Pathogenic 407680 rs1060501677 11:108143500-108143500 11:108272773-108272773
38 ATM NM_001330368.2(C11orf65):c.641-12273_641-12272delshort repeat Pathogenic 407729 rs1060501707 11:108192070-108192071 11:108321343-108321344
39 ATM NM_000051.3(ATM):c.4110-1G>ASNV Pathogenic 407707 rs1060501692 11:108159703-108159703 11:108288976-108288976
40 ATM NM_001330368.2(C11orf65):c.641-6824deldeletion Pathogenic 407479 rs1060501548 11:108186622-108186622 11:108315895-108315895
41 ATM NM_000051.3(ATM):c.7293_7294del (p.Lys2431fs)deletion Pathogenic 407449 rs1060501525 11:108199949-108199950 11:108329222-108329223
42 ATM NM_001330368.2(C11orf65):c.641-12254_641-12239dupduplication Pathogenic 407653 rs1555117084 11:108192036-108192037 11:108321309-108321310
43 ATM NM_000051.3(ATM):c.8435_8436del (p.Ser2812fs)deletion Pathogenic 407667 rs767533596 11:108216485-108216486 11:108345758-108345759
44 ATM NM_000051.3(ATM):c.902-1G>TSNV Pathogenic 418911 rs1064793518 11:108117690-108117690 11:108246963-108246963
45 ATM NM_000051.3(ATM):c.1208C>A (p.Ser403Ter)SNV Pathogenic 419518 rs747563556 11:108119802-108119802 11:108249075-108249075
46 ATM NM_000051.3(ATM):c.2483del (p.Lys828fs)deletion Pathogenic 420009 rs1064794234 11:108137910-108137910 11:108267183-108267183
47 ATM NM_001351834.2(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)deletion Pathogenic 420011 rs1064794236 11:108164058-108164061 11:108293331-108293334
48 ATM NM_000051.3(ATM):c.4661del (p.Asn1554fs)deletion Pathogenic 418723 rs1064793390 11:108164086-108164086 11:108293359-108293359
49 ATM NM_000051.3(ATM):c.2806_2809dup (p.Glu937fs)duplication Pathogenic 420010 rs757237504 11:108139302-108139303 11:108268575-108268576
50 ATM NM_000051.3(ATM):c.5653dup (p.Thr1885fs)duplication Pathogenic 418036 rs587778077 11:108175556-108175557 11:108304829-108304830

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

73 (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 rs155511455
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

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:

36
# Name Kegg Source Accession
1 Homologous recombination hsa03440
2 Cell cycle hsa04110
3 Cellular senescence hsa04218

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

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 65
Show member pathways
 13.92 TP53 RPA2 RPA1 RAD50 RAD17 PCNA
2
Cell Cycle, Mitotic 65
Show member pathways
 13.58 TP53BP1 TP53 RPA2 RPA1 RAD50 RAD17
3
Cellular Senescence (REACTOME) 65
Show member pathways
 13.26 TP53 RPA2 RPA1 RAD50 NBN MRE11
4
Regulation of TP53 Activity 65
Show member pathways
 13.16 TP53 RPA2 RPA1 RAD50 RAD17 PCNA
5
TCR Signaling (Qiagen) 63
Show member pathways
 13.1 TP53BP1 TP53 RAD50 PCNA NBN MRE11
6
DNA Double-Strand Break Repair 65
Show member pathways
 12.86 TP53BP1 TP53 RPA2 RPA1 RAD50 RAD17
7
Meiosis 65
Show member pathways
 12.72 RPA2 RPA1 RAD50 NBN MRE11 H2AX
8
Chks in Checkpoint Regulation 63
Show member pathways
 12.68 TP53 RPA2 RAD50 RAD17 PRKDC PCNA
9
SUMOylation 65
Show member pathways
 12.62 TP53BP1 TP53 RPA1 PCNA BRCA1
10
Mitotic G1-G1/S phases 65
Show member pathways
 12.6 TP53 RPA2 RPA1 PCNA ATM
11
DNA Double Strand Break Response 65
Show member pathways
 12.6 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
12
Cell Cycle Checkpoints 65
Show member pathways
 12.57 TP53BP1 TP53 RPA2 RPA1 RAD50 RAD17
13
Cell cycle 36 1
12.55 TP53 PRKDC PCNA CHEK2 CHEK1 ATR
14
E2F mediated regulation of DNA replication 65
Show member pathways
 12.51 RPA2 RPA1 RAD17 PCNA CHEK1 ATR
15
DNA Damage Response 1
Show member pathways
 12.51 TP53 RPA2 RAD50 RAD17 PRKDC NBN
16
Apoptosis Pathway 70
Show member pathways
 12.5 TP53 CHEK2 CHEK1 ATR ATM
17
DNA Damage/Telomere Stress Induced Senescence 65
Show member pathways
 12.49 TP53 RAD50 NBN MRE11 H2AX ATM
18
p53 Signaling 63
Show member pathways
 12.45 TP53 PRKDC CHEK2 CHEK1 BRCA1 ATR
19
Human T-cell leukemia virus 1 infection 36
12.41 TP53 CHEK2 CHEK1 ATR ATM
20
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 12.41 RPA2 RPA1 RAD50 RAD17 PCNA NBN
21
Cellular senescence (KEGG) 36
12.37 TP53 RAD50 NBN MRE11 CHEK2 CHEK1
22
Integrated Breast Cancer Pathway 1
12.36 TP53 RAD50 MRE11 CHEK2 CHEK1 BRCA1
23
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 12.34 RPA2 RPA1 RAD50 NBN MRE11 BRCA1
24
Cellular response to heat stress 65
Show member pathways
 12.23 RPA2 RPA1 ATR ATM
25
Retinoblastoma (RB) in Cancer 1
12.08 TP53 RPA2 RPA1 PRKDC PCNA NPAT
26
BRCA1 Pathway 63
Show member pathways
 12.05 TP53 RAD50 NBN MRE11 CHEK2 CHEK1
27
DNA Damage 4
12.05 TRIM29 TP53BP1 TP53 RPA2 RPA1 RAD50
28
ATM Pathway 63
Show member pathways
 12.04 TP53BP1 TP53 RAD50 NBN MRE11 H2AX
29
Fanconi anemia pathway 65 36
11.95 RPA2 RPA1 BRCA1 ATR
30
Pathways Affected in Adenoid Cystic Carcinoma 1
11.91 TP53 PRKDC CHEK2 CHEK1 BRCA1 ATM
31
Mismatch repair 1 36 65
Show member pathways
 11.86 RPA2 RPA1 PCNA
32
p53 pathway 1
11.82 TP53 CHEK2 CHEK1 ATR ATM
33
Regulation of Telomerase 1
11.79 RAD50 NBN MRE11 ATM
34
ATM Signaling Network in Development and Disease 1
11.79 TP53BP1 RAD50 PRKDC NBN MRE11 H2AX
35
Integrated Cancer Pathway 1
11.78 TP53 RAD50 MRE11 CHEK2 CHEK1 BRCA1
36
Regulation of TP53 Expression and Degradation 65
Show member pathways
 11.74 TP53 CHEK2 ATM
37
DNA damage_ATM/ATR regulation of G1/S checkpoint 22
11.74 TP53