AT
MCID: ATX030
MIFTS: 77

Ataxia-Telangiectasia (AT) malady

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

Aliases & Classifications for Ataxia-Telangiectasia

Aliases & Descriptions for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 54 23 24 25 56 66 13 38
Ataxia Telangiectasia 38 12 71 50 24 51 66 52 41 42 14 69
Louis-Bar Syndrome 50 24 25 56 66
Ataxia-Telangiectasia Variant 56 29 69
a-T 24 25
at 50 66
Immunodeficiency with Ataxia Telangiectasia 50
Telangiectasia, Cerebello-Oculocutaneous 25
Cerebello-Oculocutaneous Telangiectasia 50
Ataxia Telangiectasia Syndrome 25
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 56
Atm 25
At1 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 208900
Disease Ontology 12 DOID:12704
MeSH 42 D001260
NCIt 47 C2887
SNOMED-CT 64 68504005
MESH via Orphanet 43 D001260
UMLS via Orphanet 70 C0004135
ICD10 via Orphanet 34 G11.3
UMLS 69 C0004135

Summaries for Ataxia-Telangiectasia

NINDS : 51 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 and nijmegen breakage syndrome, and has symptoms including ataxia, seizures and tremor. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

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.

NIH Rare Diseases : 50 ataxia telangiectasia (a-t) is rare condition that affects the nervous system, the immune system, and many other parts of the body. signs and symptoms of the condition usually begin in early childhood, often before age 5. the condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. a-t is caused by changes (mutations) in the atm gene and is inherited in an autosomal recessive manner. treatment is supportive and based on the signs and symptoms present in each person. last updated: 4/5/2016

OMIM : 54 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases,... (208900) more...

MedlinePlus : 41 ataxia-telangiectasia (a-t) is a rare, inherited disease. it affects the nervous system, immune system, and other body systems. symptoms appear in young children, usually before age 5. they include ataxia - trouble coordinating movements poor balance slurred speech tiny, red spider veins, called telangiectasias, on the skin and eyes lung infections delayed physical and sexual development people with a-t have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. although it affects the brain, people with a-t usually have normal or high intelligence. a-t has no cure. treatments might improve some symptoms. they include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. nih: national institute of neurological disorders and stroke

UniProtKB/Swiss-Prot : 66 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 : 71 Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis–Bar... more...

GeneReviews: NBK26468

Related Diseases for Ataxia-Telangiectasia

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder

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

(show top 50) (show all 165)
id Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 12.6
2 nijmegen breakage syndrome 12.0
3 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.8
4 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
5 pulmonary fungal infections in patients deemed at risk 11.8
6 arterial tortuosity syndrome 11.6
7 atypical teratoid rhabdoid tumor 11.3
8 ocular motor apraxia 11.3
9 thrombophilia due to antithrombin iii deficiency 11.3
10 ataxia 11.2
11 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.0
12 cerebellar hypoplasia 10.9
13 pancreatic cancer 10.9
14 breast cancer 10.5
15 leukemia 10.5
16 lymphoma 10.4
17 lung cancer 10.3
18 lymphoproliferative syndrome, ebv-associated, autosomal, 1 10.2 CHEK2 TP53
19 lymphoblastic leukemia 10.2
20 dandy-walker syndrome 10.2 ATM ATR
21 hodgkin lymphoma 10.2
22 bronchogenic cyst 10.2 ATM BRCA1 CHEK2
23 lethal congenital contracture syndrome 7 10.2 BRCA1 NBN
24 villoglandular endometrial endometrioid adenocarcinoma 10.2 ATM BRCA1 TP53
25 intraorbital meningioma 10.2 ATM BRCA1 TP53
26 neuronitis 10.2
27 polyembryoma of the ovary 10.2 ATM BRCA1 CHEK2
28 dystonia 10.1
29 bloom syndrome 10.1
30 gastric cancer 10.1
31 bronchiectasis oligospermia 10.1 ATM BRCA1 CHEK2 NBN
32 bone marrow failure syndrome 2 10.1 ATM ATR RPA2 TP53
33 pituitary stalk meningioma 10.1 ATM BRCA1 CHEK2 TP53
34 thyroiditis 10.1
35 adenocarcinoma 10.1
36 b-cell lymphomas 10.1
37 squamous cell carcinoma 10.1
38 chronic lymphocytic leukemia 10.1
39 cerebritis 10.1
40 hepatitis 10.1
41 glioma 10.1
42 progesterone resistance 10.1 ATM CHEK2 MRE11 NBN RAD50
43 werner syndrome 10.0
44 agammaglobulinemia 10.0
45 lung disease 10.0
46 herpes simplex 10.0
47 diffuse large b-cell lymphoma 10.0
48 hemolytic anemia 10.0
49 apraxia 10.0
50 lujan-fryns syndrome 10.0 DCLRE1C PRKDC

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



Diseases related to Ataxia-Telangiectasia

Symptoms & Phenotypes for Ataxia-Telangiectasia

Symptoms by clinical synopsis from OMIM:

208900

Clinical features from OMIM:

208900

Human phenotypes related to Ataxia-Telangiectasia:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 tremor 56 32 Very frequent (99-80%) HP:0001337
4 nystagmus 56 32 Very frequent (99-80%) HP:0000639
5 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
6 spasticity 56 32 Frequent (79-30%) HP:0001257
7 dysarthria 56 32 Frequent (79-30%) HP:0001260
8 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
9 failure to thrive 56 32 Occasional (29-5%) HP:0001508
10 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
11 type ii diabetes mellitus 56 32 Occasional (29-5%) HP:0005978
12 short stature 56 32 Frequent (79-30%) HP:0004322
13 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
14 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
15 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
16 neoplasm 56 32 Frequent (79-30%) HP:0002664
17 strabismus 56 32 Very frequent (99-80%) HP:0000486
18 elevated hepatic transaminases 56 32 Very frequent (99-80%) HP:0002910
19 decreased antibody level in blood 56 32 Very frequent (99-80%) HP:0004313
20 premature graying of hair 56 32 Very frequent (99-80%) HP:0002216
21 hypopigmentation of hair 56 32 Frequent (79-30%) HP:0005599
22 mucosal telangiectasiae 56 32 Very frequent (99-80%) HP:0100579
23 abnormality of the testis 56 32 Occasional (29-5%) HP:0000035
24 polycystic ovaries 56 32 Very frequent (99-80%) HP:0000147
25 lymphopenia 56 32 Very frequent (99-80%) HP:0001888
26 abnormality of chromosome stability 56 32 Very frequent (99-80%) HP:0003220
27 cellular immunodeficiency 56 32 Very frequent (99-80%) HP:0005374
28 multiple cafe-au-lait spots 56 32 Occasional (29-5%) HP:0007565
29 aplasia/hypoplasia of the skin 56 32 Occasional (29-5%) HP:0008065
30 aplasia/hypoplasia of the thymus 56 32 Very frequent (99-80%) HP:0010515
31 myoclonus 32 HP:0001336
32 dystonia 32 HP:0001332
33 abnormality of eye movement 56 Very frequent (99-80%)
34 neurological speech impairment 56 Very frequent (99-80%)
35 immunodeficiency 56 Very frequent (99-80%)
36 abnormality of movement 56 Very frequent (99-80%)
37 sinusitis 32 HP:0000246
38 reduced tendon reflexes 32 HP:0001315
39 conjunctival telangiectasia 32 HP:0000524
40 teleangiectasia of the skin 56 Very frequent (99-80%)
41 abnormality of the immune system 56 Very frequent (99-80%)
42 prematurely aged appearance 56 Very frequent (99-80%)
43 hypoplasia of the thymus 32 HP:0000778
44 abnormality of the hair 32 HP:0001595
45 abnormal spermatogenesis 32 HP:0008669
46 bronchiectasis 32 HP:0002110
47 choreoathetosis 32 HP:0001266
48 iga deficiency 32 HP:0002720
49 decreased number of cd4+ t cells 32 HP:0005407
50 female hypogonadism 32 HP:0000134

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.7 ATM PRKDC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.7 DCLRE1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.7 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.7 CHEK1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.7 ATM CHEK2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.7 ATR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.7 CHEK2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.7 CHEK1 DCLRE1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.7 ATM DCLRE1C CHEK1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.7 CHEK2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.7 CHEK1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.7 DCLRE1C CHEK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.7 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.7 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.7 CHEK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.7 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.7 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.7 ATR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.7 ATR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.7 ATR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.7 CHEK2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.7 ATM PRKDC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.7 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.7 ATM PRKDC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.7 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.7 PRKDC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.7 CHEK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.7 CHEK1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.7 ATR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.7 CHEK1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.7 PRKDC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.7 ATM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.7 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.7 CHEK2 ATM DCLRE1C ATR PRKDC CHEK1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.7 DCLRE1C
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.54 CHEK2
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.54 CHEK2
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.54 CHEK1 CDKN1A
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.54 CHEK2 RAD17 CDKN1A CHEK1
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.54 CHEK1
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.54 CHEK2
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.54 CHEK1
43 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.54 CHEK1
44 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.54 CHEK1
45 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.54 CHEK2 RAD17 CHEK1
46 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.54 CDKN1A
47 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.54 CHEK2
48 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.54 CHEK2 CHEK1
49 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.54 CHEK2
50 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.54 CDKN1A
51 Decreased viability GR00106-A-0 10.46 RPA2
52 Decreased viability GR00221-A-1 10.46 CHEK1 RPA2
53 Decreased viability GR00221-A-2 10.46 BRCA1 CHEK1 CHEK2 RPA2
54 Decreased viability GR00221-A-3 10.46 ATM BRCA1 CHEK1 CHEK2 RPA2
55 Decreased viability GR00221-A-4 10.46 ATM CHEK1 CHEK2
56 Decreased viability GR00240-S-1 10.46 CHEK1
57 Decreased viability GR00301-A 10.46 BRCA1 CHEK1
58 Decreased viability GR00342-S-2 10.46 CHEK2
59 Decreased viability GR00381-A-1 10.46 CHEK1
60 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 CHEK2 DCLRE1C GADD45A H2AFX MRE11 NBN
61 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.07 NBN PRKDC RAD17 RAD50 TP53 TP53BP1
62 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.07 PRKDC RAD17 RAD50 TP53 TP53BP1 ATM
63 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.91 CHEK2 PRKDC ATM ATR CHEK1
64 Decreased viability after gemcitabine stimulation GR00107-A-2 9.73 ATR CHEK1 PRKDC ATM
65 Decreased telomerase activity GR00156-A 9.65 ATR CHEK1 CHEK2
66 Decreased viability after ionizing radiation GR00232-A-2 9.58 BRCA1 PRKDC ATM
67 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.54 ATM ATR CHEK1
68 Synthetic lethal with cisplatin GR00101-A-1 9.26 ATR BRCA1 CHEK1 DCLRE1C
69 Increased viability with nutlin-3 GR00123-A 9.16 TP53 TP53BP1

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.43 DCLRE1C GADD45A H2AFX MRE11 NBN PRKDC
2 endocrine/exocrine gland MP:0005379 10.34 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3 hematopoietic system MP:0005397 10.3 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
4 homeostasis/metabolism MP:0005376 10.28 APTX ATM ATR BRCA1 CDKN1A CHEK2
5 growth/size/body region MP:0005378 10.26 GADD45A H2AFX NBN PRKDC RAD50 TP53
6 embryo MP:0005380 10.25 NBN RAD17 RAD50 TP53 ATM ATR
7 immune system MP:0005387 10.25 MRE11 NBN PRKDC RAD50 TP53 TP53BP1
8 cardiovascular system MP:0005385 10.24 ATM ATR BRCA1 CDKN1A CHEK1 GADD45A
9 mortality/aging MP:0010768 10.22 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
10 neoplasm MP:0002006 10.1 GADD45A H2AFX MRE11 NBN PRKDC RAD50
11 adipose tissue MP:0005375 10.09 ATM ATR BRCA1 CDKN1A PRKDC TP53
12 integument MP:0010771 10.02 ATM ATR BRCA1 CDKN1A CHEK1 GADD45A
13 nervous system MP:0003631 9.93 RAD50 TP53 ATM ATR BRCA1 CDKN1A
14 reproductive system MP:0005389 9.44 ATM ATR BRCA1 CDKN1A CHEK1 GADD45A
15 pigmentation MP:0001186 9.35 ATR BRCA1 PRKDC RAD50 TP53

Drugs & Therapeutics for Ataxia-Telangiectasia

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

(show top 50) (show all 100)
id 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 53477783
3
Amantadine Approved Phase 4 768-94-5 2130
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Metformin Approved Phase 4 657-24-9 14219 4091
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7 Adrenergic Agents Phase 4
8 Adrenergic Agonists Phase 4
9 Adrenergic alpha-2 Receptor Agonists Phase 4
10 Adrenergic alpha-Agonists Phase 4
11 Analgesics Phase 4
12 Antihypertensive Agents Phase 4
13 Autonomic Agents Phase 4,Phase 3
14 Contraceptive Agents Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estradiol valerate Phase 4 979-32-8
18 Estrogens Phase 4
19 Hormone Antagonists Phase 4,Phase 3
20 Hormones Phase 4,Phase 3
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
22 insulin Phase 4
23 Insulin, Globin Zinc Phase 4
24 Mitogens Phase 4
25 Neurotransmitter Agents Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 3
27 Polyestradiol phosphate Phase 4
28 Sympatholytics Phase 4
29 Analgesics, Non-Narcotic Phase 4
30 Anti-Infective Agents Phase 4,Phase 2
31 Antiparkinson Agents Phase 4
32 Antiviral Agents Phase 4,Phase 2
33 Dopamine Agents Phase 4
34 Hypoglycemic Agents Phase 4
35 arginine Nutraceutical Phase 4
36
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
38 Vaccines Phase 3
39 Antiemetics Phase 3
40 Anti-Inflammatory Agents Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 BB 1101 Phase 3
43 Dexamethasone 21-phosphate Phase 3
44 Dexamethasone acetate Phase 3 1177-87-3
45 Gastrointestinal Agents Phase 3
46 glucocorticoids 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 24)
id Name Status NCT ID Phase
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
2 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
3 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4
4 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
5 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
6 Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell Transplant Completed NCT00110045 Phase 2
7 Gemcitabine Hydrochloride Alone or With VX-970 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Recruiting NCT02595892 Phase 2
8 Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer Patients Active, not recruiting NCT01063517 Phase 2
9 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2
10 Study of AZD6738, DNA Damage Repair/Novel Anti-cancer Agent, in Combination With Paclitaxel, in Refractory Cancer Recruiting NCT02630199 Phase 1
11 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
12 Susceptibility to Infections in Ataxia Telangiectasia Unknown status NCT02345135
13 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348
14 Baclofen Treatment of Ataxia Telangiectasia Unknown status NCT00640003 Early Phase 1
15 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
16 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200
17 Study for Treatment of Cancer in Children With Ataxia-telangiectasia Completed NCT00187057
18 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
19 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Recruiting NCT02246491
20 Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Recruiting NCT02857894
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
23 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089
24 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


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

Cochrane evidence based reviews: ataxia telangiectasia

Genetic Tests for Ataxia-Telangiectasia

Genetic tests related to Ataxia-Telangiectasia:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome 29
2 Ataxia-Telangiectasia Variant 29
3 Ataxia-Telangiectasia 24 ATM

Anatomical Context for Ataxia-Telangiectasia

MalaCards organs/tissues related to Ataxia-Telangiectasia:

39
Eye, Skin, Brain, Lung, Breast, T Cells, B Cells

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 871)
id Title Authors Year
1
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
2
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
3
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. ( 28162005 )
2017
4
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). ( 28131712 )
2017
5
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. ( 28123174 )
2017
6
Erratum to: The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. ( 28081717 )
2017
7
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. ( 28120234 )
2017
8
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
9
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
10
Ataxia-telangiectasia: Immunodeficiency and survival. ( 28126470 )
2017
11
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
12
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. ( 28082406 )
2017
13
Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. ( 28487983 )
2017
14
A new ataxia-telangiectasia mutation in an 11-year-old female. ( 28488180 )
2017
15
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. ( 28196983 )
2017
16
Multidisciplinary care of children and young people with ataxia-telangiectasia. ( 28338211 )
2017
17
Refractory status dystonicus in ataxia telangiectasia. ( 28084263 )
2017
18
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders. ( 27871447 )
2016
19
Ataxia telangiectasia, menkes kinky hair disease, neurocutaneous melanosis: a review of these neurocutaneous syndromes and indications for clinical practice. ( 27002302 )
2016
20
Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia. ( 27597554 )
2016
21
Enhanced gefitinib-induced repression of the epidermal growth factor receptor pathway by ataxia telangiectasia-mutated kinase inhibition in non-small-cell lung cancer cells. ( 26825989 )
2016
22
Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs. ( 27613453 )
2016
23
Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants. ( 27764772 )
2016
24
A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. ( 28007901 )
2016
25
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. ( 26891003 )
2016
26
Silencing of ataxia-telangiectasia mutated by siRNA enhances the in vitro and in vivo radiosensitivity of glioma. ( 27108486 )
2016
27
Ataxia telangiectasia-mutated kinase deficiency exacerbates left ventricular dysfunction and remodeling late after myocardial infarction. ( 27288435 )
2016
28
Novel ATM mutations with ataxia-telangiectasia. ( 26628246 )
2016
29
Small Molecules Targeting Ataxia Telangiectasia and Rad3-Related (ATR) Kinase: An Emerging way to Enhance Existing Cancer Therapy. ( 26882028 )
2016
30
Ataxia telangiectasia: a review. ( 27884168 )
2016
31
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. ( 27664052 )
2016
32
Ataxia telangiectasia: a syndrome deserving attention and study. ( 27265211 )
2016
33
Reply to Comment on: Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab. ( 26739927 )
2016
34
Small-molecule inhibitors of Ataxia Telangiectasia and Rad3 related kinase (ATR) sensitize lymphoma cells to UVA radiation. ( 27743911 )
2016
35
Ataxia telangiectasia associated with nodular regenerative hyperplasia. ( 27671921 )
2016
36
The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. ( 27538496 )
2016
37
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. ( 27159176 )
2016
38
Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer. ( 27329169 )
2016
39
Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance. ( 26606753 )
2016
40
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone. ( 27933465 )
2016
41
Ataxia telangiectasia mutated (ATM), could it be another useful biomarker for the successful treatment with the poly (ADP-ribose) polymerase inhibitor? ( 28138571 )
2016
42
Single Nucleotide Polymorphism rs1801516 in Ataxia Telangiectasia-Mutated Gene Predicts Late Fibrosis in Cancer Patients After Radiotherapy: A PRISMA-Compliant Systematic Review and Meta-Analysis. ( 27057881 )
2016
43
Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated. ( 28260489 )
2016
44
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. ( 27214374 )
2016
45
Growth and nutrition in children with ataxia telangiectasia. ( 27573920 )
2016
46
Treatment of acute leukemia in children with ataxia telangiectasia (A-T). ( 27238889 )
2016
47
Serum Interleukin-6 Levels and Pulmonary Function inA Ataxia-Telangiectasia. ( 26851119 )
2016
48
Ataxia telangiectasia: presentation and diagnostic delay. ( 27799156 )
2016
49
Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells. ( 27596957 )
2016
50
Does Ataxia Telangiectasia Mutated (ATM) protect testicular and germ cell DNA integrity by regulating the redox status? ( 27318254 )
2016

Variations for Ataxia-Telangiectasia

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

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

ClinVar genetic disease variations for Ataxia-Telangiectasia:

6 (show top 50) (show all 355)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) deletion Pathogenic rs796051856 GRCh38 Chromosome 11, 108329210: 108329215
2 ATM NM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274 single nucleotide variant Pathogenic rs774925473 GRCh37 Chromosome 11, 108179837: 108179837
3 ATM NM_000051.3(ATM): c.8480T> G (p.Phe2827Cys) single nucleotide variant Pathogenic rs121434216 GRCh37 Chromosome 11, 108216531: 108216531
4 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh37 Chromosome 11, 108199929: 108199929
5 ATM NM_000051.3(ATM): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55861249 GRCh37 Chromosome 11, 108098533: 108098533
6 ATM NM_000051.3(ATM): c.9139C> T (p.Arg3047Ter) single nucleotide variant Pathogenic rs121434219 GRCh37 Chromosome 11, 108236203: 108236203
7 ATM NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) indel Pathogenic/Likely pathogenic rs267606668 GRCh37 Chromosome 11, 108203575: 108203576
8 ATM NM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs) indel Pathogenic rs587776549 GRCh38 Chromosome 11, 108272813: 108272815
9 ATM NM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs) deletion Pathogenic rs587776550 GRCh38 Chromosome 11, 108333946: 108333949
10 ATM NM_000051.3(ATM): c.3576G> A (p.Lys1192=) single nucleotide variant Pathogenic rs587776551 GRCh38 Chromosome 11, 108281168: 108281168
11 ATM NM_000051.3(ATM): c.7327C> T (p.Arg2443Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434220 GRCh37 Chromosome 11, 108200960: 108200960
12 ATM NM_000051.3(ATM): c.2839-581_2839-578delGTAA deletion Pathogenic rs587776552 GRCh38 Chromosome 11, 108270483: 108270486
13 ATM NM_000051.3(ATM): c.8030A> G (p.Tyr2677Cys) single nucleotide variant Pathogenic rs28942103 GRCh37 Chromosome 11, 108205715: 108205715
14 ATM NM_000051.3(ATM): c.496+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs796051858 GRCh38 Chromosome 11, 108235839: 108235839
15 ATM NM_000051.3(ATM): c.146C> G (p.Ser49Cys) single nucleotide variant risk factor rs1800054 GRCh37 Chromosome 11, 108098576: 108098576
16 ATM NM_000051.3(ATM): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779815 GRCh38 Chromosome 11, 108250804: 108250804
17 ATM NM_000051.3(ATM): c.1564_1565delGA (p.Glu522Ilefs) deletion Pathogenic rs587779817 GRCh38 Chromosome 11, 108251029: 108251030
18 ATM NM_000051.3(ATM): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs587779818 GRCh38 Chromosome 11, 108227873: 108227873
19 ATM NM_000051.3(ATM): c.2502dupA (p.Val835Serfs) duplication Pathogenic rs587779822 GRCh38 Chromosome 11, 108267206: 108267206
20 ATM NM_000051.3(ATM): c.2638+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs587779826 GRCh38 Chromosome 11, 108267344: 108267344
21 ATM NM_000051.3(ATM): c.3372C> G (p.Tyr1124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779833 GRCh38 Chromosome 11, 108279578: 108279578
22 ATM NM_000051.3(ATM): c.3802delG (p.Val1268Terfs) deletion Pathogenic rs587779834 GRCh38 Chromosome 11, 108284282: 108284282
23 ATM NM_000051.3(ATM): c.5290delC (p.Leu1764Tyrfs) deletion Pathogenic/Likely pathogenic rs587779846 GRCh38 Chromosome 11, 108301760: 108301760
24 ATM NM_000051.3(ATM): c.5791delGinsCCT (p.Ala1931Profs) indel Pathogenic/Likely pathogenic rs587779851 GRCh38 Chromosome 11, 108310188: 108310188
25 ATM NM_000051.3(ATM): c.5932G> T (p.Glu1978Ter) single nucleotide variant Pathogenic rs587779852 GRCh38 Chromosome 11, 108312424: 108312424
26 ATM NM_000051.3(ATM): c.6100C> T (p.Arg2034Ter) single nucleotide variant Pathogenic/Likely pathogenic rs532480170 GRCh38 Chromosome 11, 108316015: 108316015
27 ATM NM_000051.3(ATM): c.6572+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587779856 GRCh38 Chromosome 11, 108321421: 108321421
28 ATM NM_000051.3(ATM) deletion Pathogenic/Likely pathogenic rs587779859 GRCh38 Chromosome 11, 108327635: 108327658
29 ATM NM_000051.3(ATM): c.7456C> T (p.Arg2486Ter) single nucleotide variant Pathogenic rs587779865 GRCh38 Chromosome 11, 108330362: 108330362
30 ATM NM_000051.3(ATM): c.7630-2A> C single nucleotide variant Pathogenic rs587779866 GRCh38 Chromosome 11, 108331877: 108331877
31 ATM NM_000051.3(ATM): c.7998dupT (p.Met2667Tyrfs) duplication Pathogenic/Likely pathogenic rs587779869 GRCh38 Chromosome 11, 108333956: 108333956
32 ATM NM_000051.3(ATM): c.8494C> T (p.Arg2832Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587779872 GRCh38 Chromosome 11, 108345818: 108345818
33 ATM NM_000051.3(ATM): c.8786+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs17174393 GRCh38 Chromosome 11, 108353881: 108353881
34 ATM NM_000051.3(ATM): c.5652dupA (p.Thr1885Asnfs) duplication Pathogenic rs587778077 GRCh37 Chromosome 11, 108175557: 108175557
35 ATM NM_000051.3(ATM): c.8545C> T (p.Arg2849Ter) single nucleotide variant Pathogenic rs587778080 GRCh38 Chromosome 11, 108345869: 108345869
36 ATM NM_000051.3(ATM): c.1027_1030delGAAA deletion Pathogenic/Likely pathogenic rs587780612 GRCh38 Chromosome 11, 108247089: 108247092
37 ATM NM_000051.3(ATM): c.7788G> A (p.Glu2596=) single nucleotide variant Pathogenic rs587780639 GRCh38 Chromosome 11, 108332037: 108332037
38 ATM NM_000051.3(ATM): c.8266A> T (p.Lys2756Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371638537 GRCh38 Chromosome 11, 108335959: 108335959
39 ATM NM_000051.3(ATM): c.9079dupA (p.Ser3027Lysfs) duplication Pathogenic/Likely pathogenic rs587780645 GRCh38 Chromosome 11, 108365416: 108365416
40 ATM NM_000051.3(ATM): c.6997dupA (p.Thr2333Asnfs) duplication Pathogenic rs587781299 GRCh37 Chromosome 11, 108198393: 108198393
41 ATM NM_000051.3(ATM): c.6047A> G (p.Asp2016Gly) single nucleotide variant Likely pathogenic rs587781302 GRCh37 Chromosome 11, 108186590: 108186590
42 ATM NM_000051.3(ATM): c.1402_1403delAA (p.Lys468Glufs) deletion Pathogenic/Likely pathogenic rs587781347 GRCh37 Chromosome 11, 108121594: 108121595
43 ATM NM_000051.3(ATM): c.8565_8566delTGinsAA (p.Ser2855_Val2856delinsArgIle) indel Likely pathogenic rs587781353 GRCh37 Chromosome 11, 108216616: 108216617
44 ATM NM_000051.3(ATM): c.378delT (p.Asp126Glufs) deletion Pathogenic rs587781449 GRCh37 Chromosome 11, 108106443: 108106443
45 ATM NM_000051.3(ATM): c.2921+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781558 GRCh37 Chromosome 11, 108141874: 108141874
46 ATM NM_000051.3(ATM): c.7913G> A (p.Trp2638Ter) single nucleotide variant Pathogenic/Likely pathogenic rs377349459 GRCh38 Chromosome 11, 108332886: 108332886
47 ATM NM_000051.3(ATM): c.1290_1291delTG (p.Cys430Terfs) deletion Pathogenic/Likely pathogenic rs587781598 GRCh38 Chromosome 11, 108250755: 108250756
48 ATM NM_000051.3(ATM): c.4373delG (p.Gly1458Glufs) deletion Pathogenic rs587781653 GRCh37 Chromosome 11, 108160465: 108160465
49 ATM NM_000051.3(ATM): c.2284_2285delCT (p.Leu762Valfs) deletion Pathogenic/Likely pathogenic rs587781658 GRCh37 Chromosome 11, 108128241: 108128242
50 ATM NM_000051.3(ATM): c.7096G> T (p.Glu2366Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587781672 GRCh37 Chromosome 11, 108199754: 108199754

Expression for Ataxia-Telangiectasia

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

Pathways for Ataxia-Telangiectasia

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

(show top 50) (show all 57)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
2
Show member pathways
13.6 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3
Show member pathways
13.36 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
4
Show member pathways
13.27 ATM ATR CDKN1A H2AFX MRE11 NBN
5
Show member pathways
13.17 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
6
Show member pathways
13.1 ATM ATR BRCA1 CHEK2 H2AFX MRE11
7 12.95 APTX ATM ATR BRCA1 CDKN1A CHEK1
8
Show member pathways
12.89 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
9
Show member pathways
12.87 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
10
Show member pathways
12.73 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
11
Show member pathways
12.69 ATM ATR BRCA1 H2AFX MRE11 NBN
12
Show member pathways
12.6 ATM CDKN1A GADD45A RPA2 TP53
13 12.57 ATM ATR CDKN1A CHEK1 CHEK2 GADD45A
14 12.55 ATM ATR CDKN1A CHEK1 CHEK2 TP53
15
Show member pathways
12.53 ATM CDKN1A H2AFX MRE11 NBN RAD50
16
Show member pathways
12.52 ATM ATR BRCA1 CHEK1 MRE11 NBN
17
Show member pathways
12.5 ATM ATR CHEK1 CHEK2 TP53
18
Show member pathways
12.49 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
19
Show member pathways
12.42 ATM BRCA1 CHEK2 DCLRE1C H2AFX MRE11
20 12.39 ATM ATR BRCA1 CHEK1 CHEK2 GADD45A
21
Show member pathways
12.38 ATR CHEK1 RAD17 RPA2
22
Show member pathways
12.36 ATM ATR CDKN1A TP53
23
Show member pathways
12.32 ATM BRCA1 MRE11 NBN RAD50 RPA2
24 12.29 ATM ATR CDKN1A CHEK1 CHEK2 GADD45A
25
Show member pathways
12.24 BRCA1 CDKN1A CHEK1 CHEK2
26
Show member pathways
12.12 ATM BRCA1 CDKN1A CHEK1 CHEK2 GADD45A
27 12.05 CDKN1A CHEK1 NPAT PRKDC RPA2 TP53
28
Show member pathways
11.91 CDKN1A GADD45A TP53
29 11.91 ATM BRCA1 CHEK1 CHEK2 PRKDC TP53
30 11.87 ATR BRCA1 RPA2
31
Show member pathways
11.87 ATM ATR BRCA1 CHEK1 CHEK2 GADD45A
32 11.84 ATM BRCA1 CDKN1A TP53
33 11.82 ATM ATR CHEK1 CHEK2 TP53
34 11.8 ATM MRE11 NBN RAD50
35 11.77 ATM ATR CHEK1 CHEK2 DCLRE1C H2AFX
36 11.75 ATM BRCA1 CDKN1A
37
Show member pathways
11.74 ATM CHEK2 TP53
38 11.73 ATM ATR CDKN1A TP53
39
Show member pathways
11.69 ATM ATR CHEK1 CHEK2 TP53
40 11.67 ATM CDKN1A H2AFX TP53
41 11.66 BRCA1 CDKN1A GADD45A
42 11.58 BRCA1 CDKN1A TP53
43 11.57 ATM ATR BRCA1 CDKN1A GADD45A TP53
44 11.45 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
45 11.43 BRCA1 DCLRE1C MRE11 NBN PRKDC RAD50
46 11.43 ATM ATR CHEK1 CHEK2 GADD45A H2AFX
47 11.35 BRCA1 GADD45A TP53
48
Show member pathways
11.31 ATM CDKN1A GADD45A TP53
49 11.28 ATM ATR BRCA1 RAD17 TP53
50 11.27 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2

GO Terms for Ataxia-Telangiectasia

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.95 BRCA1 CDKN1A CHEK1 PRKDC TP53
2 nucleoplasm GO:0005654 9.93 APTX ATM ATR BRCA1 CDKN1A CHEK1
3 nuclear chromatin GO:0000790 9.89 APTX H2AFX RAD17 RAD50 TP53
4 nuclear body GO:0016604 9.86 CDKN1A RPA2 TP53 TP53BP1
5 chromatin GO:0000785 9.81 APTX CHEK1 H2AFX RPA2
6 PML body GO:0016605 9.8 ATR CHEK2 MRE11 NBN RPA2 TP53
7 condensed nuclear chromosome GO:0000794 9.76 BRCA1 CHEK1 H2AFX RAD50
8 nuclear chromosome, telomeric region GO:0000784 9.76 ATM ATR DCLRE1C MRE11 NBN PRKDC
9 site of double-strand break GO:0035861 9.73 H2AFX MRE11 NBN RAD50 RPA2 TP53BP1
10 replication fork GO:0005657 9.71 CHEK1 H2AFX NBN TP53
11 Mre11 complex GO:0030870 9.61 MRE11 NBN RAD50
12 nonhomologous end joining complex GO:0070419 9.52 DCLRE1C PRKDC
13 chromosome, telomeric region GO:0000781 9.32 ATM CHEK1 CHEK2 H2AFX MRE11 NBN
14 nucleus GO:0005634 10.35 APTX ATM ATR BRCA1 CDKN1A CHEK1
15 chromosome GO:0005694 10.02 ATR BRCA1 H2AFX MRE11 NBN RAD50
16 nucleolus GO:0005730 10.01 APTX CDKN1A NBN PRKDC RAD17 TP53

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

(show top 50) (show all 59)
id Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.99 ATM ATR CHEK2 PRKDC
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.99 APTX DCLRE1C MRE11 RAD50
3 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.98 ATM CDKN1A CHEK2 GADD45A TP53
4 response to ionizing radiation GO:0010212 9.97 ATM BRCA1 DCLRE1C H2AFX PRKDC
5 meiotic cell cycle GO:0051321 9.96 H2AFX MRE11 NBN RAD50
6 telomere maintenance GO:0000723 9.96 DCLRE1C NBN PRKDC RAD50 RPA2
7 DNA synthesis involved in DNA repair GO:0000731 9.95 ATM BRCA1 MRE11 NBN RAD50
8 cellular response to gamma radiation GO:0071480 9.95 ATM ATR CDKN1A CHEK2 H2AFX TP53
9 strand displacement GO:0000732 9.93 ATM BRCA1 MRE11 NBN RAD50
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.91 ATM BRCA1 CHEK2 PRKDC
11 DNA double-strand break processing GO:0000729 9.91 ATM BRCA1 MRE11 NBN RAD50
12 replicative senescence GO:0090399 9.91 ATM ATR CDKN1A CHEK1 CHEK2 TP53
13 regulation of cellular response to heat GO:1900034 9.88 ATM ATR RPA2
14 DNA duplex unwinding GO:0032508 9.87 MRE11 NBN RAD50
15 interstrand cross-link repair GO:0036297 9.87 ATR DCLRE1C RPA2
16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.87 BRCA1 CDKN1A CHEK2 TP53
17 DNA damage checkpoint GO:0000077 9.87 ATR CHEK1 CHEK2 H2AFX NBN RAD17
18 response to gamma radiation GO:0010332 9.86 CHEK2 PRKDC TP53
19 positive regulation of reactive oxygen species metabolic process GO:2000379 9.86 CDKN1A GADD45A TP53
20 cellular response to ionizing radiation GO:0071479 9.85 CDKN1A GADD45A TP53
21 mitotic cell cycle checkpoint GO:0007093 9.85 CHEK1 NBN RAD17
22 intrinsic apoptotic signaling pathway GO:0097193 9.85 CDKN1A NBN TP53
23 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.85 CDKN1A CHEK2 TP53
24 reciprocal meiotic recombination GO:0007131 9.84 ATM MRE11 RAD50
25 positive regulation of protein autophosphorylation GO:0031954 9.82 MRE11 NBN RAD50
26 telomere maintenance via telomerase GO:0007004 9.81 ATM MRE11 RAD50
27 positive regulation of kinase activity GO:0033674 9.81 MRE11 NBN RAD50
28 positive regulation of telomere maintenance GO:0032206 9.8 MRE11 NBN RAD50
29 V(D)J recombination GO:0033151 9.79 ATM DCLRE1C PRKDC
30 DNA damage induced protein phosphorylation GO:0006975 9.78 ATM CHEK1 CHEK2
31 negative regulation of telomere capping GO:1904354 9.77 ATM NBN RAD50
32 telomeric 3 overhang formation GO:0031860 9.77 MRE11 NBN RAD50
33 regulation of double-strand break repair via homologous recombination GO:0010569 9.73 CHEK1 RPA2
34 mitotic cell cycle arrest GO:0071850 9.72 CDKN1A GADD45A
35 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.72 NBN TP53
36 mitotic G2 DNA damage checkpoint GO:0007095 9.72 MRE11 NBN
37 determination of adult lifespan GO:0008340 9.72 ATM TP53
38 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.72 ATM ATR
39 signal transduction in response to DNA damage GO:0042770 9.71 CHEK2 GADD45A
40 cellular response to X-ray GO:0071481 9.71 ATM TP53BP1
41 mitotic G1 DNA damage checkpoint GO:0031571 9.71 RPA2 TP53
42 chromosome organization involved in meiotic cell cycle GO:0070192 9.7 ATM RAD50
43 regulation of signal transduction by p53 class mediator GO:1901796 9.7 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
44 signal transduction by p53 class mediator GO:0072331 9.69 CDKN1A TP53
45 regulation of mitotic recombination GO:0000019 9.66 MRE11 RAD50
46 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.65 ATM ATR
47 establishment of RNA localization to telomere GO:0097694 9.65 ATM ATR
48 establishment of macromolecular complex localization to telomere GO:0097695 9.65 ATM ATR
49 double-strand break repair via nonhomologous end joining GO:0006303 9.28 ATM BRCA1 DCLRE1C H2AFX MRE11 NBN
50 cellular response to DNA damage stimulus GO:0006974 10.21 APTX ATM ATR BRCA1 CDKN1A CHEK1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.99 ATM ATR CDKN1A CHEK1 CHEK2 PRKDC
2 protein kinase activity GO:0004672 9.95 ATM ATR CHEK1 CHEK2 PRKDC
3 protein serine/threonine kinase activity GO:0004674 9.92 ATM ATR CHEK1 CHEK2 PRKDC
4 enzyme binding GO:0019899 9.88 BRCA1 H2AFX PRKDC RPA2 TP53
5 nucleotide binding GO:0000166 9.85 ATM ATR CHEK1 CHEK2 RAD17 RAD50
6 ubiquitin protein ligase binding GO:0031625 9.83 BRCA1 CDKN1A CHEK2 RPA2 TP53
7 p53 binding GO:0002039 9.71 TP53 TP53BP1 TRIM29
8 ATP-dependent DNA helicase activity GO:0004003 9.58 MRE11 NBN RAD50
9 protein N-terminus binding GO:0047485 9.5 APTX ATM GADD45A NBN NPAT RPA2
10 DNA-dependent protein kinase activity GO:0004677 9.46 ATM PRKDC
11 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.43 DCLRE1C MRE11 RAD50
12 damaged DNA binding GO:0003684 9.17 APTX BRCA1 DCLRE1C H2AFX NBN RPA2
13 protein binding GO:0005515 10.16 APTX ATM ATR BRCA1 CDKN1A CHEK1
14 ATP binding GO:0005524 10.1 ATM ATR CHEK1 CHEK2 PRKDC RAD17
15 DNA binding GO:0003677 10.06 APTX ATM ATR BRCA1 H2AFX MRE11

Sources for Ataxia-Telangiectasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MeSH
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44 MGI
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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