MCID: ATX030
MIFTS: 78

Ataxia-Telangiectasia

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

Aliases & Classifications for Ataxia-Telangiectasia

MalaCards integrated aliases for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 54 23 24 25 56 71 13 38
Ataxia Telangiectasia 38 12 72 50 24 51 71 52 41 42 14 69
Louis-Bar Syndrome 50 24 25 56 71
Ataxia-Telangiectasia Variant 56 29 69
a-T 24 25
at 50 71
Immunodeficiency with Ataxia Telangiectasia 50
Telangiectasia, Cerebello-Oculocutaneous 25
Cerebello-Oculocutaneous Telangiectasia 50
Ataxia Telangiectasia Syndrome 25
Ataxia-Telangiectasia Syndrome 29
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 56
Atm 25
At1 71

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;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



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 1 and ataxia-telangiectasia-like disorder 2, and has symptoms including short stature, failure to thrive and nystagmus. 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 skin, eye and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

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

UniProtKB/Swiss-Prot : 71 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

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

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.

OMIM : 54
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)

Wikipedia : 72 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 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 163)
id Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 12.4
2 ataxia-telangiectasia-like disorder 2 12.3
3 nijmegen breakage syndrome 12.0
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.8
5 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.8
6 pulmonary fungal infections in patients deemed at risk 11.8
7 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
8 arterial tortuosity syndrome 11.6
9 ocular motor apraxia 11.3
10 ataxia 11.3
11 cerebellar hypoplasia 10.9
12 x-linked sideroblastic anemia with ataxia 10.9
13 spastic paraplegia 72, autosomal recessive 10.6 MRE11 RAD50
14 pancreatic cancer 4 10.5 BRCA1 NBN
15 leiomyoma cutis 10.5 PCNA TP53
16 breast cancer 10.5
17 endocervicitis 10.5 BRCA1 TP53
18 leukemia 10.5
19 chest wall lymphoma 10.5 ATM BRCA1 TP53
20 lymphoma 10.4
21 amyloid tumor 10.4 ATM BRCA1 CHEK2
22 lung cancer 10.4
23 acute cholinergic dysautonomia 10.4 CDKN1A TP53
24 lymphoblastic leukemia 10.2
25 brenner tumor of the vagina 10.2 ATM BRCA1 CHEK2 TP53
26 3-methylglutaconic aciduria, type i 10.2 ATM ATR RPA2 TP53
27 childhood ovarian embryonal carcinoma 10.2 ATM BRCA1 CHEK2 TP53
28 hodgkin lymphoma 10.2
29 rete testis adenoma 10.2 CDKN1A TP53
30 ciliary dyskinesia, primary, 1, with or without situs inversus 10.2 APTX MRE11 NBN
31 congenital granular cell tumor 10.2 CDKN1A TP53
32 neuronitis 10.2
33 dystonia 10.1
34 bloom syndrome 10.1
35 adenocarcinoma 10.1
36 b-cell lymphomas 10.1
37 squamous cell carcinoma 10.1
38 cerebritis 10.1
39 chronic lymphocytic leukemia 10.1
40 glioma 10.1
41 hepatitis 10.1
42 thyroiditis 10.1
43 ureter urothelial papilloma 10.1 CDKN1A TP53
44 bardet-biedl syndrome 10.0 BRCA1 CDKN1A TP53
45 agammaglobulinemia 10.0
46 werner syndrome 10.0
47 lung disease 10.0
48 herpes simplex 10.0
49 myocardial infarction 10.0
50 diffuse large b-cell lymphoma 10.0

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



Diseases related to Ataxia-Telangiectasia

Symptoms & Phenotypes for Ataxia-Telangiectasia

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Endocrine Features:
glucose intolerance
delayed puberty
diabetes mellitus

Genitourinary- Internal Genitalia Female:
hypogonadism

Respiratory- Airways:
bronchiectasis
bronchitis

Head And Neck- Head:
sinusitis

Skin Nails & Hair- Hair:
progeric hair changes

Neurologic- Central Nervous System:
dystonia
myoclonus
tremor
choreoathetosis
seizures
more
Skin Nails & Hair- Skin:
cafe-au-lait spots
cutaneous telangiectasia
progeric skin changes
sclerodermatous skin changes

Genitourinary- Internal Genitalia Male:
hypogonadism
impaired spermatogenesis

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

Immunology:
normal numbers of b cells
thymus hypoplasia
defective b cell differentiation
lymphocytopenia
reduced numbers of t cells
more
Laboratory- Abnormalities:
increased levels of alpha fetoprotein
increased levels of carcinoembryonic antigen
reduced iga levels
reduced ige levels
reduced igg levels, particularly the igg2 subclass
more

Clinical features from OMIM:

208900

Human phenotypes related to Ataxia-Telangiectasia:

56 32 (show top 50) (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
3 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 dysarthria 56 32 frequent (33%) Frequent (79-30%) HP:0001260
5 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
6 recurrent respiratory infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002205
7 tremor 56 32 hallmark (90%) Very frequent (99-80%) HP:0001337
8 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
9 spasticity 56 32 frequent (33%) Frequent (79-30%) HP:0001257
10 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
11 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
12 lymphopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001888
13 delayed puberty 56 32 hallmark (90%) Very frequent (99-80%) HP:0000823
14 diabetes mellitus 56 32 Frequent (79-30%) HP:0000819
15 premature graying of hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002216
16 polycystic ovaries 56 32 hallmark (90%) Very frequent (99-80%) HP:0000147
17 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
18 cellular immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0005374
19 type ii diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0005978
20 elevated hepatic transaminases 56 32 hallmark (90%) Very frequent (99-80%) HP:0002910
21 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
22 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
23 neoplasm 56 32 frequent (33%) Frequent (79-30%) HP:0002664
24 decreased antibody level in blood 56 32 hallmark (90%) Very frequent (99-80%) HP:0004313
25 hypopigmentation of hair 56 32 frequent (33%) Frequent (79-30%) HP:0005599
26 mucosal telangiectasiae 56 32 hallmark (90%) Very frequent (99-80%) HP:0100579
27 abnormality of the testis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000035
28 abnormality of chromosome stability 56 32 hallmark (90%) Very frequent (99-80%) HP:0003220
29 aplasia/hypoplasia of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0008065
30 aplasia/hypoplasia of the thymus 56 32 hallmark (90%) Very frequent (99-80%) HP:0010515
31 dystonia 32 HP:0001332
32 myoclonus 32 HP:0001336
33 choreoathetosis 32 HP:0001266
34 glucose intolerance 32 HP:0000833
35 immunodeficiency 56 Very frequent (99-80%)
36 bronchiectasis 32 HP:0002110
37 leukemia 32 HP:0001909
38 conjunctival telangiectasia 32 HP:0000524
39 iga deficiency 32 HP:0002720
40 sinusitis 32 HP:0000246
41 defective b cell differentiation 32 HP:0005357
42 non-hodgkin lymphoma 32 HP:0012539
43 hodgkin lymphoma 32 HP:0012189
44 recurrent bronchitis 32 HP:0002837
45 elevated alpha-fetoprotein 32 HP:0006254
46 decreased number of cd4+ t cells 32 HP:0005407
47 abnormality of eye movement 56 Very frequent (99-80%)
48 neurological speech impairment 56 Very frequent (99-80%)
49 abnormality of movement 56 Very frequent (99-80%)
50 reduced tendon reflexes 32 HP:0001315

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 CHEK1 ATM DCLRE1C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.7 CHEK2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.7 CHEK1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.7 CHEK1 DCLRE1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.7 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.7 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.7 CHEK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.7 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.7 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.7 ATR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.7 ATR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.7 ATR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.7 CHEK2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.7 ATM PRKDC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.7 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.7 PRKDC ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.7 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.7 PRKDC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.7 CHEK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.7 CHEK1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.7 ATR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.7 CHEK1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.7 PRKDC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.7 ATM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.7 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.7 CHEK1 CHEK2 ATM DCLRE1C ATR PRKDC
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 CDKN1A CHEK1
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.54 RAD17 CDKN1A CHEK1 CHEK2
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 RAD17 CHEK1 CHEK2
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 CHEK1 CHEK2
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 CHEK1 CHEK2 ATM
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 H2AFX MRE11 NBN PCNA
61 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.1 NBN PCNA PRKDC RAD17 RAD50 TP53
62 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.1 NBN PCNA PRKDC RAD17 RAD50 TP53
63 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.91 ATM ATR CHEK1 CHEK2 PRKDC
64 Increased cell death HMECs cells GR00103-A-0 9.85 ATR BRCA1 CHEK1 PCNA PRKDC TP53
65 Decreased viability after gemcitabine stimulation GR00107-A-2 9.73 ATM ATR CHEK1 PRKDC
66 Decreased telomerase activity GR00156-A 9.65 ATR CHEK1 CHEK2
67 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.58 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 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 APTX ATM H2AFX MRE11 NBN PRKDC
2 endocrine/exocrine gland MP:0005379 10.36 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3 hematopoietic system MP:0005397 10.32 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
4 immune system MP:0005387 10.28 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
5 growth/size/body region MP:0005378 10.27 ATR BRCA1 CDKN1A H2AFX NBN PCNA
6 homeostasis/metabolism MP:0005376 10.27 APTX ATM ATR BRCA1 CDKN1A CHEK2
7 mortality/aging MP:0010768 10.27 MRE11 NBN NPAT PCNA PRKDC RAD17
8 embryo MP:0005380 10.22 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
9 cardiovascular system MP:0005385 10.21 RAD17 TP53 ATM ATR BRCA1 CDKN1A
10 adipose tissue MP:0005375 10.17 ATM ATR BRCA1 CDKN1A PCNA PRKDC
11 neoplasm MP:0002006 10.13 H2AFX MRE11 NBN PRKDC RAD50 TP53
12 digestive/alimentary MP:0005381 10.01 ATR BRCA1 CDKN1A PRKDC RAD50 TP53
13 integument MP:0010771 10.01 ATR BRCA1 CDKN1A CHEK1 PRKDC RAD50
14 nervous system MP:0003631 10 ATM ATR BRCA1 CDKN1A CHEK2 MRE11
15 reproductive system MP:0005389 9.77 NBN PCNA PRKDC RAD50 TP53 TP53BP1
16 pigmentation MP:0001186 9.55 ATR BRCA1 PRKDC RAD50 TP53
17 respiratory system MP:0005388 9.1 ATR BRCA1 CDKN1A 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 99)
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
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 acetate Phase 3 1177-87-3
44 Gastrointestinal Agents Phase 3
45 glucocorticoids Phase 3
46 Dexamethasone 21-phosphate Phase 3
47 HIV Protease Inhibitors Phase 3
48 Pharmaceutical Solutions Phase 3
49
protease inhibitors Phase 3
50
Caspofungin Approved Phase 2 179463-17-3, 162808-62-0 468682 2826718

Interventional clinical trials:

(show all 25)

id Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
3 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4 Metformin;Pioglitazone
4 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
5 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
6 Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell Transplant Completed NCT00110045 Phase 2 caspofungin acetate
7 Gemcitabine Hydrochloride Alone or With VX-970 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Recruiting NCT02595892 Phase 2 ATR Kinase Inhibitor VX-970;Gemcitabine Hydrochloride
8 Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer Patients Active, not recruiting NCT01063517 Phase 2 olaparib;paclitaxel;Placebo
9 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2 MK-4827
10 First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344
11 ATRi Transition Rollover Study Not yet recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
12 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
13 Susceptibility to Infections in Ataxia Telangiectasia Unknown status NCT02345135
14 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348
15 Baclofen Treatment of Ataxia Telangiectasia Unknown status NCT00640003 Early Phase 1 Baclofen;Placebo
16 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
17 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200
18 Study for Treatment of Cancer in Children With Ataxia-telangiectasia Completed NCT00187057 vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
19 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
20 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Recruiting NCT02246491
21 Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Recruiting NCT02857894
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
24 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
25 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
Skin, Eye, Brain, Lung, T Cells, Breast, B Cells

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 889)
id Title Authors Year
1
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. ( 28746835 )
2017
2
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
3
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
4
B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. ( 28701397 )
2017
5
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
6
Refractory status dystonicus in ataxia telangiectasia. ( 28084263 )
2017
7
Inhibition of ataxia telangiectasia related-3 (ATR) improves therapeutic index in preclinical models of non-small cell lung cancer (NSCLC) radiotherapy. ( 28697853 )
2017
8
Transcriptional regulation of ataxia-telangiectasia and Rad3-related protein by activated p21-activated kinase-1 protects keratinocytes in UV-B-induced premalignant skin lesions. ( 28692051 )
2017
9
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. ( 28716242 )
2017
10
Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. ( 28487983 )
2017
11
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. ( 28162005 )
2017
12
The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research. ( 28825373 )
2017
13
Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population. ( 28642860 )
2017
14
A new ataxia-telangiectasia mutation in an 11-year-old female. ( 28488180 )
2017
15
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
16
Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization. ( 28698541 )
2017
17
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. ( 28082406 )
2017
18
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. ( 28120234 )
2017
19
Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis. ( 28543935 )
2017
20
Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats. ( 28894083 )
2017
21
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia. ( 28744812 )
2017
22
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? ( 28778179 )
2017
23
A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility. ( 28756982 )
2017
24
Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions. ( 28929041 )
2017
25
Multidisciplinary care of children and young people with ataxia-telangiectasia. ( 28338211 )
2017
26
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
27
Haplodeficiency of Ataxia Telangiectasia Mutated Accelerates Heart Failure After Myocardial Infarction. ( 28724653 )
2017
28
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. ( 28196983 )
2017
29
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
30
Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy. ( 28782291 )
2017
31
Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology). ( 28596805 )
2017
32
Ataxia-telangiectasia: Immunodeficiency and survival. ( 28126470 )
2017
33
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). ( 28131712 )
2017
34
Growth hormone treatment in patients with ataxia telangiectasia. ( 28948852 )
2017
35
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
36
Bilateral maculopathy in a patient with ataxia telangiectasia. ( 26917084 )
2016
37
A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. ( 28007901 )
2016
38
Novel ATM mutations with ataxia-telangiectasia. ( 26628246 )
2016
39
Ataxia telangiectasia: a review. ( 27884168 )
2016
40
Medical Management of Pediatric Malignant Bowel Obstruction in a Patient with Burkitt's Lymphoma and Ataxia Telangiectasia Using Continuous Ambulatory Drug Delivery System. ( 26862790 )
2016
41
Childhood colon cancer in a patient with ataxia telangiectasia. ( 26855947 )
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
Small-molecule inhibitors of Ataxia Telangiectasia and Rad3 related kinase (ATR) sensitize lymphoma cells to UVA radiation. ( 27743911 )
2016
44
Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 27259031 )
2016
45
Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer. ( 27329169 )
2016
46
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
47
Ataxia telangiectasia-mutated kinase deficiency exacerbates left ventricular dysfunction and remodeling late after myocardial infarction. ( 27288435 )
2016
48
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. ( 26891003 )
2016
49
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders. ( 27871447 )
2016
50
Ataxia telangiectasia mutated in cardiac fibroblasts regulates doxorubicin-induced cardiotoxicity. ( 26862121 )
2016

Variations for Ataxia-Telangiectasia

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

71 (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 rs876659365
23 ATM p.Trp2491Arg VAR_010860
24 ATM p.His2554Asp VAR_010862
25 ATM p.Asp2625Gln VAR_010863
26 ATM p.Leu2656Pro VAR_010865 rs121434218
27 ATM p.Glu2668Gly VAR_010868
28 ATM p.Ile2702Arg VAR_010870 rs876659735
29 ATM p.Ala2726Val VAR_010874
30 ATM p.Cys2824Tyr VAR_010878 rs876660927
31 ATM p.Phe2827Cys VAR_010879 rs121434216
32 ATM p.Pro2829Leu VAR_010880
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 352)
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.8545C> T (p.Arg2849Ter) single nucleotide variant Pathogenic rs587778080 GRCh37 Chromosome 11, 108216596: 108216596
35 ATM NM_000051.3(ATM): c.1027_1030delGAAA deletion Pathogenic/Likely pathogenic rs587780612 GRCh38 Chromosome 11, 108247089: 108247092
36 ATM NM_000051.3(ATM): c.7788G> A (p.Glu2596=) single nucleotide variant Pathogenic rs587780639 GRCh38 Chromosome 11, 108332037: 108332037
37 ATM NM_000051.3(ATM): c.8266A> T (p.Lys2756Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371638537 GRCh38 Chromosome 11, 108335959: 108335959
38 ATM NM_000051.3(ATM): c.9079dupA (p.Ser3027Lysfs) duplication Pathogenic/Likely pathogenic rs587780645 GRCh38 Chromosome 11, 108365416: 108365416
39 ATM NM_000051.3(ATM): c.6997dupA (p.Thr2333Asnfs) duplication Pathogenic rs587781299 GRCh38 Chromosome 11, 108327666: 108327666
40 ATM NM_000051.3(ATM): c.6047A> G (p.Asp2016Gly) single nucleotide variant Likely pathogenic rs587781302 GRCh38 Chromosome 11, 108315863: 108315863
41 ATM NM_000051.3(ATM): c.1402_1403delAA (p.Lys468Glufs) deletion Pathogenic/Likely pathogenic rs587781347 GRCh38 Chromosome 11, 108250867: 108250868
42 ATM NM_000051.3(ATM): c.8565_8566delTGinsAA (p.Ser2855_Val2856delinsArgIle) indel Likely pathogenic rs587781353 GRCh38 Chromosome 11, 108345889: 108345890
43 ATM NM_000051.3(ATM): c.378delT (p.Asp126Glufs) deletion Pathogenic rs587781449 GRCh38 Chromosome 11, 108235716: 108235716
44 ATM NM_000051.3(ATM): c.2921+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781558 GRCh37 Chromosome 11, 108141874: 108141874
45 ATM NM_000051.3(ATM): c.7913G> A (p.Trp2638Ter) single nucleotide variant Pathogenic/Likely pathogenic rs377349459 GRCh37 Chromosome 11, 108203613: 108203613
46 ATM NM_000051.3(ATM): c.1290_1291delTG (p.Cys430Terfs) deletion Pathogenic/Likely pathogenic rs587781598 GRCh37 Chromosome 11, 108121482: 108121483
47 ATM NM_000051.3(ATM): c.4373delG (p.Gly1458Glufs) deletion Pathogenic rs587781653 GRCh37 Chromosome 11, 108160465: 108160465
48 ATM NM_000051.3(ATM): c.2284_2285delCT (p.Leu762Valfs) deletion Pathogenic/Likely pathogenic rs587781658 GRCh37 Chromosome 11, 108128241: 108128242
49 ATM NM_000051.3(ATM): c.7096G> T (p.Glu2366Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587781672 GRCh37 Chromosome 11, 108199754: 108199754
50 ATM NM_000051.3(ATM): c.5908C> T (p.Gln1970Ter) single nucleotide variant Pathogenic rs587781722 GRCh37 Chromosome 11, 108181032: 108181032

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 51)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
2
Show member pathways
13.58 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3
Show member pathways
13.4 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
4
Show member pathways
13.17 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
5
Show member pathways
13.12 ATM ATR BRCA1 CHEK2 H2AFX MRE11
6 12.95 APTX ATM ATR BRCA1 CDKN1A CHEK1
7
Show member pathways
12.91 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
8
Show member pathways
12.89 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
9
Show member pathways
12.7 ATM ATR BRCA1 H2AFX MRE11 NBN
10
Show member pathways
12.64 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
11
Show member pathways
12.6 ATM CDKN1A PCNA RPA2 TP53
12 12.6 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
13 12.58 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
14
Show member pathways
12.53 ATM CDKN1A H2AFX MRE11 NBN RAD50
15
Show member pathways
12.52 ATM ATR BRCA1 CHEK1 MRE11 NBN
16
Show member pathways
12.5 ATM ATR CHEK1 CHEK2 TP53
17
Show member pathways
12.48 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
18
Show member pathways
12.45 ATR CHEK1 PCNA RAD17 RPA2
19
Show member pathways
12.42 ATM BRCA1 CHEK2 DCLRE1C H2AFX MRE11
20 12.37 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
21
Show member pathways
12.35 ATM ATR CDKN1A TP53
22
Show member pathways
12.32 ATM BRCA1 MRE11 NBN RAD50 RPA2
23 12.3 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
24
Show member pathways
12.24 BRCA1 CDKN1A CHEK1 CHEK2
25 12.08 ATM ATR CDKN1A TP53
26 12.08 CDKN1A CHEK1 NPAT PCNA PRKDC RPA2
27
Show member pathways
12.08 ATM BRCA1 CDKN1A CHEK1 CHEK2 H2AFX
28 11.92 ATM BRCA1 CHEK1 CHEK2 PRKDC TP53
29 11.86 ATR BRCA1 RPA2
30 11.84 ATM BRCA1 CDKN1A TP53
31 11.82 ATM ATR CHEK1 CHEK2 TP53
32 11.79 ATM MRE11 NBN RAD50
33 11.77 ATM ATR CHEK1 CHEK2 DCLRE1C H2AFX
34 11.74 ATM BRCA1 CDKN1A
35
Show member pathways
11.74 ATM CHEK2 TP53
36
Show member pathways
11.73 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
37
Show member pathways
11.69 ATM ATR CHEK1 CHEK2 TP53
38 11.67 ATM CDKN1A H2AFX TP53
39 11.57 BRCA1 CDKN1A TP53
40 11.56 ATM ATR BRCA1 CDKN1A PCNA TP53
41 11.42 BRCA1 DCLRE1C MRE11 NBN PRKDC RAD50
42 11.4 ATM ATR CHEK1 CHEK2 H2AFX PRKDC
43 11.37 ATM ATR BRCA1 MRE11 NBN PCNA
44 11.29 ATM ATR BRCA1 RAD17 TP53
45 11.25 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
46
Show member pathways
11.19 ATM CDKN1A TP53
47
Show member pathways
11.15 ATM MRE11 NBN RAD50
48 10.94 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
49 10.85 ATR CHEK1
50 10.78 CDKN1A TP53

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 nuclear body GO:0016604 9.91 CDKN1A PCNA RPA2 TP53 TP53BP1
2 nuclear chromatin GO:0000790 9.88 APTX H2AFX RAD17 RAD50 TP53
3 PML body GO:0016605 9.85 ATR CHEK2 MRE11 NBN RPA2 TP53
4 site of double-strand break GO:0035861 9.73 H2AFX MRE11 NBN RAD50 RPA2 TP53BP1
5 condensed nuclear chromosome GO:0000794 9.7 BRCA1 CHEK1 RAD50
6 chromosome, telomeric region GO:0000781 9.65 ATM CHEK1 CHEK2 H2AFX MRE11 NBN
7 replication fork GO:0005657 9.62 CHEK1 NBN PCNA TP53
8 Mre11 complex GO:0030870 9.61 MRE11 NBN RAD50
9 nonhomologous end joining complex GO:0070419 9.56 DCLRE1C PRKDC
10 PCNA-p21 complex GO:0070557 9.49 CDKN1A PCNA
11 nuclear chromosome, telomeric region GO:0000784 9.28 ATM ATR DCLRE1C MRE11 NBN PCNA
12 DNA repair complex GO:1990391 9.25 ATM
13 nucleus GO:0005634 10.38 APTX ATM ATR BRCA1 CDKN1A CHEK1
14 nucleoplasm GO:0005654 10.13 APTX ATM ATR BRCA1 CDKN1A CHEK1
15 nucleolus GO:0005730 10.01 APTX CDKN1A NBN PRKDC RAD17 TP53
16 chromosome GO:0005694 10 ATR BRCA1 H2AFX MRE11 NBN RAD50

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

(show top 50) (show all 56)
id Name GO ID Score Top Affiliating Genes
1 peptidyl-serine phosphorylation GO:0018105 9.99 ATM ATR CHEK2 PRKDC
2 cell cycle arrest GO:0007050 9.98 ATM CDKN1A NBN TP53
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.98 APTX DCLRE1C MRE11 RAD50
4 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.98 ATM CDKN1A CHEK2 PCNA TP53
5 response to ionizing radiation GO:0010212 9.97 ATM BRCA1 DCLRE1C H2AFX PRKDC
6 telomere maintenance GO:0000723 9.97 DCLRE1C NBN PCNA PRKDC RAD50 RPA2
7 double-strand break repair GO:0006302 9.97 BRCA1 CHEK2 DCLRE1C H2AFX MRE11 NBN
8 meiotic cell cycle GO:0051321 9.96 H2AFX MRE11 NBN RAD50
9 DNA synthesis involved in DNA repair GO:0000731 9.96 ATM BRCA1 MRE11 NBN RAD50
10 cellular response to gamma radiation GO:0071480 9.95 ATM ATR CDKN1A CHEK2 H2AFX TP53
11 DNA damage checkpoint GO:0000077 9.95 ATR CHEK1 CHEK2 H2AFX NBN RAD17
12 strand displacement GO:0000732 9.93 ATM BRCA1 MRE11 NBN RAD50
13 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.92 ATM BRCA1 CHEK2 PRKDC
14 DNA double-strand break processing GO:0000729 9.91 ATM BRCA1 MRE11 NBN RAD50
15 replicative senescence GO:0090399 9.91 ATM ATR CDKN1A CHEK1 CHEK2 TP53
16 regulation of cellular response to heat GO:1900034 9.88 ATM ATR RPA2
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.88 BRCA1 CDKN1A CHEK2 TP53
18 interstrand cross-link repair GO:0036297 9.87 ATR DCLRE1C RPA2
19 DNA duplex unwinding GO:0032508 9.87 MRE11 NBN RAD50
20 cellular response to UV GO:0034644 9.87 ATR PCNA TP53
21 response to gamma radiation GO:0010332 9.85 CHEK2 PRKDC TP53
22 reciprocal meiotic recombination GO:0007131 9.85 ATM MRE11 RAD50
23 mitotic cell cycle checkpoint GO:0007093 9.85 CHEK1 NBN RAD17
24 intrinsic apoptotic signaling pathway GO:0097193 9.84 CDKN1A NBN TP53
25 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.83 CDKN1A CHEK2 TP53
26 positive regulation of DNA repair GO:0045739 9.83 BRCA1 H2AFX PCNA
27 positive regulation of protein autophosphorylation GO:0031954 9.81 MRE11 NBN RAD50
28 positive regulation of kinase activity GO:0033674 9.8 MRE11 NBN RAD50
29 V(D)J recombination GO:0033151 9.8 ATM DCLRE1C PRKDC
30 positive regulation of telomere maintenance GO:0032206 9.79 MRE11 NBN RAD50
31 DNA damage induced protein phosphorylation GO:0006975 9.78 ATM CHEK1 CHEK2
32 negative regulation of telomere capping GO:1904354 9.77 ATM NBN RAD50
33 telomeric 3 overhang formation GO:0031860 9.77 MRE11 NBN RAD50
34 mitotic G2 DNA damage checkpoint GO:0007095 9.72 MRE11 NBN
35 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.72 NBN TP53
36 determination of adult lifespan GO:0008340 9.72 ATM TP53
37 DNA ligation GO:0006266 9.71 APTX PCNA
38 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.71 ATM ATR
39 cellular response to X-ray GO:0071481 9.71 ATM TP53BP1
40 mitotic G1 DNA damage checkpoint GO:0031571 9.71 RPA2 TP53
41 chromosome organization involved in meiotic cell cycle GO:0070192 9.7 ATM RAD50
42 regulation of signal transduction by p53 class mediator GO:1901796 9.7 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
43 signal transduction by p53 class mediator GO:0072331 9.69 CDKN1A TP53
44 regulation of mitotic recombination GO:0000019 9.65 MRE11 RAD50
45 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.65 ATM ATR
46 establishment of RNA localization to telomere GO:0097694 9.64 ATM ATR
47 establishment of macromolecular complex localization to telomere GO:0097695 9.64 ATM ATR
48 double-strand break repair via nonhomologous end joining GO:0006303 9.28 ATM BRCA1 DCLRE1C H2AFX MRE11 NBN
49 cell cycle GO:0007049 10.23 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
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 16)
id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.96 ATM ATR CHEK1 CHEK2 PRKDC
2 protein serine/threonine kinase activity GO:0004674 9.93 ATM ATR CHEK1 CHEK2 PRKDC
3 nucleotide binding GO:0000166 9.88 ATM ATR CHEK1 CHEK2 RAD17 RAD50
4 ubiquitin protein ligase binding GO:0031625 9.85 BRCA1 CDKN1A CHEK2 RPA2 TP53
5 enzyme binding GO:0019899 9.85 BRCA1 H2AFX PCNA PRKDC RPA2 TP53
6 p53 binding GO:0002039 9.72 TP53 TP53BP1 TRIM29
7 ATP-dependent DNA helicase activity GO:0004003 9.61 MRE11 NBN RAD50
8 MutLalpha complex binding GO:0032405 9.49 ATR PCNA
9 DNA-dependent protein kinase activity GO:0004677 9.48 ATM PRKDC
10 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.43 DCLRE1C MRE11 RAD50
11 protein N-terminus binding GO:0047485 9.43 APTX ATM NBN NPAT RPA2 TP53
12 damaged DNA binding GO:0003684 9.17 APTX BRCA1 DCLRE1C NBN PCNA RPA2
13 protein binding GO:0005515 10.16 APTX ATM ATR BRCA1 CDKN1A CHEK1
14 ATP binding GO:0005524 10.11 ATM ATR CHEK1 CHEK2 PRKDC RAD17
15 DNA binding GO:0003677 10.1 APTX ATM ATR BRCA1 H2AFX MRE11
16 kinase activity GO:0016301 10 ATM ATR CDKN1A CHEK1 CHEK2 PRKDC

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
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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