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AT
MCID: ATX030
MIFTS: 84

Ataxia-Telangiectasia (AT)

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Ataxia-Telangiectasia

About this section

MalaCards integrated aliases for Ataxia-Telangiectasia:

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

Characteristics:

Orphanet epidemiological data:

59
ataxia-telangiectasia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (France),1-9/100000 (Italy); Age of onset: Childhood,Infancy; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Skin diseases Endocrine diseases Blood diseases Ear diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Sources

Summaries for Ataxia-Telangiectasia

About this section
NINDS : 54 Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays.  Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

MalaCards based summary : Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder 1 and nijmegen breakage syndrome, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Homologous recombination and Cell cycle. The drugs Estradiol and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are nystagmus and diabetes mellitus

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 : 53 Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.

OMIM : 57 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. (208900)

MedlinePlus : 43 Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, red spider veins, called telangiectasias, on the skin and eyes Lung infections Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke

UniProtKB/Swiss-Prot : 75 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

Wikipedia : 76 Ataxia telangiectasia (AT or A-T), also referred to as ataxia telangiectasia syndrome or Louis�??Bar... more...

GeneReviews: NBK26468
Sources

Related Diseases for Ataxia-Telangiectasia

About this section

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2

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

(show top 50) (show all 5300)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 34.5 MRE11 NBN
2 nijmegen breakage syndrome 33.2 ATM BRCA1 CHEK2 MRE11 NBN RAD50
3 ocular motor apraxia 32.4 APTX ATM
4 synchronous bilateral breast carcinoma 31.7 ATM BRCA1 TP53
5 lig4 syndrome 31.2 ATM ATR DCLRE1C NBN PRKDC
6 werner syndrome 30.5 MRE11 NBN RPA1
7 xeroderma pigmentosum, variant type 30.5 ATM RPA1 RPA2 TP53
8 fanconi anemia, complementation group g 30.4 CHEK1 CHEK2
9 large intestine cancer 30.3 CDKN1A CHEK1 CHEK2 TP53
10 li-fraumeni syndrome 2 30.2 CHEK2 TP53
11 lymphoma, non-hodgkin, familial 30.2 ATM FAS-AS1 NBN TP53
12 fanconi anemia, complementation group a 30.1 ATM BRCA1 CHEK1 MRE11 NBN RAD50
13 bilateral breast cancer 30.1 ATM BRCA1 CHEK2
14 breast cancer 29.9 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
15 severe combined immunodeficiency with sensitivity to ionizing radiation 29.8 DCLRE1C PRKDC TP53BP1
16 female breast cancer 29.6 ATM BRCA1 TP53
17 suppressor of tumorigenicity 3 29.6 CDKN1A PCNA TP53
18 ovarian cancer 29.6 ATM BRCA1 CDKN1A CHEK2 NBN TP53
19 li-fraumeni syndrome 29.6 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
20 sporadic breast cancer 29.5 ATM BRCA1 CHEK2 TP53
21 lip cancer 28.9 CDKN1A TP53
22 hereditary breast ovarian cancer syndrome 28.8 ATM BRCA1 CHEK2 MRE11 NBN RAD50
23 uterine corpus serous adenocarcinoma 28.5 BRCA1 TP53
24 ataxia-telangiectasia-like disorder 2 12.6
25 ataxia-telangiectasia with generalized skin pigmentation and early death 12.4
26 menarche, age at, quantitative trait locus 1 12.1
27 menopause, natural, age at, quantitative trait locus 1 12.1
28 menopause, natural, age at, quantitative trait locus 2 12.1
29 menopause, natural, age at, quantitative trait locus 4 12.1
30 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.0
31 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.0
32 ear antitragus, tag at base of 12.0
33 teeth present at birth 12.0
34 menarche, age at, quantitative trait locus 2 12.0
35 menarche, age at, quantitative trait locus 3 12.0
36 pulmonary fungal infections in patients deemed at risk 12.0
37 poliomyelitis in patients with immunodeficiencies deemed at risk 12.0
38 arterial tortuosity syndrome 11.8
39 ceroid lipofuscinosis, neuronal, 1 11.7
40 antithrombin iii deficiency 11.7
41 andersen cardiodysrhythmic periodic paralysis 11.6
42 atypical teratoid rhabdoid tumor 11.5
43 alport syndrome, x-linked 11.4
44 hereditary antithrombin deficiency 11.4
45 leiomyomatosis, diffuse, with alport syndrome 11.3
46 neural tube defects 11.3
47 cerebellar hypoplasia 11.2
48 anemia, sideroblastic, and spinocerebellar ataxia 11.2
49 ceroid lipofuscinosis, neuronal, 2 11.2
50 idiopathic acute transverse myelitis 11.1

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



Diseases related to Ataxia-Telangiectasia
Sources

Symptoms & Phenotypes for Ataxia-Telangiectasia

About this section

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
hypogonadism
impaired spermatogenesis

Respiratory Airways:
bronchiectasis
bronchitis

Skin Nails Hair Skin:
cafe-au-lait spots
cutaneous telangiectasia
progeric skin changes
sclerodermatous skin changes

Immunology:
thymus hypoplasia
normal numbers of b cells
defective b cell differentiation
lymphocytopenia
reduced numbers of t cells
more
Neurologic Central Nervous System:
seizures
tremor
myoclonus
dystonia
choreoathetosis
more
Head And Neck Head:
sinusitis

Genitourinary Internal Genitalia Female:
hypogonadism

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

Skin Nails Hair Hair:
progeric hair changes

Laboratory Abnormalities:
increased levels of alpha fetoprotein
increased levels of carcinoembryonic antigen
reduced iga levels
reduced ige levels
reduced igg levels, particularly the igg2 subclass
more

Clinical features from OMIM:

208900

Human phenotypes related to Ataxia-Telangiectasia:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 diabetes mellitus 59 32 Frequent (79-30%) HP:0000819
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
8 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
10 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
11 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
15 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
16 neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0002664
17 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
18 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
19 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
20 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
21 mucosal telangiectasiae 59 32 hallmark (90%) Very frequent (99-80%) HP:0100579
22 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
23 abnormality of the testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000035
24 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
25 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
26 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
27 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
28 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
29 aplasia/hypoplasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008065
30 aplasia/hypoplasia of the thymus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010515
31 abnormality of eye movement 59 Very frequent (99-80%)
32 neurological speech impairment 59 Very frequent (99-80%)
33 immunodeficiency 59 Very frequent (99-80%)
34 abnormality of movement 59 Very frequent (99-80%)
35 sinusitis 32 HP:0000246
36 myoclonus 32 HP:0001336
37 glucose intolerance 32 HP:0000833
38 elevated hepatic transaminases 59 Very frequent (99-80%)
39 dystonia 32 HP:0001332
40 reduced tendon reflexes 32 HP:0001315
41 conjunctival telangiectasia 32 HP:0000524
42 abnormality of the immune system 59 Very frequent (99-80%)
43 prematurely aged appearance 59 Very frequent (99-80%)
44 hypoplasia of the thymus 32 HP:0000778
45 lymphoma 32 HP:0002665
46 choreoathetosis 32 HP:0001266
47 abnormality of the hair 32 HP:0001595
48 abnormal spermatogenesis 32 HP:0008669
49 elevated alpha-fetoprotein 32 HP:0006254
50 bronchiectasis 32 HP:0002110

UMLS symptoms related to Ataxia-Telangiectasia:


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

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

26 (show top 50) (show all 60)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.82 RPA2
2 Decreased viability GR00221-A-1 10.82 CHEK1 RPA2
3 Decreased viability GR00221-A-2 10.82 BRCA1 CHEK1 CHEK2 RPA2
4 Decreased viability GR00221-A-3 10.82 BRCA1 CHEK1 ATM CHEK2 RPA2
5 Decreased viability GR00221-A-4 10.82 CHEK1 ATM CHEK2
6 Decreased viability GR00240-S-1 10.82 CHEK1
7 Decreased viability GR00301-A 10.82 ATR BRCA1 CHEK1 RPA1
8 Decreased viability GR00342-S-2 10.82 CHEK2
9 Decreased viability GR00381-A-1 10.82 CHEK1
10 Decreased viability GR00402-S-2 10.82 ATR BRCA1 CHEK1 RPA1 ATM CHEK2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.76 ATM PRKDC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.76 DCLRE1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.76 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.76 CHEK1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.76 ATM CHEK2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.76 ATR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.76 CHEK2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.76 CHEK1 DCLRE1C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.76 ATM CHEK1 DCLRE1C
20 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.76 CHEK2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.76 CHEK1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.76 CHEK1 DCLRE1C
23 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.76 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.76 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.76 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.76 ATM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.76 ATM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.76 ATR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.76 CHEK1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.76 ATR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.76 ATR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.76 CHEK2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.76 ATM PRKDC
34 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.76 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.76 ATM PRKDC
36 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.76 CHEK1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.76 PRKDC
38 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.76 CHEK1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.76 CHEK1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.76 ATR
41 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.76 CHEK1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.76 PRKDC
43 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.76 ATM
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.76 ATM
45 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.76 ATM ATR CHEK1 CHEK2 DCLRE1C PRKDC
46 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.76 DCLRE1C
47 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.25 APTX ATM ATR BRCA1 CDKN1A CHEK1
48 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.07 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
49 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.07 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
50 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.95 ATM ATR CHEK1 CHEK2 PRKDC

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 APTX ATM ATR BRCA1 CDKN1A CHEK1
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 growth/size/body region MP:0005378 10.31 ATM ATR BRCA1 CDKN1A DCLRE1C NBN
5 immune system MP:0005387 10.31 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
6 homeostasis/metabolism MP:0005376 10.27 APTX ATM ATR BRCA1 CDKN1A CHEK2
7 cardiovascular system MP:0005385 10.26 ATM ATR BRCA1 CDKN1A CHEK1 DCLRE1C
8 mortality/aging MP:0010768 10.24 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
9 embryo MP:0005380 10.22 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
10 adipose tissue MP:0005375 10.17 ATM ATR BRCA1 CDKN1A PCNA PRKDC
11 neoplasm MP:0002006 10.13 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
12 digestive/alimentary MP:0005381 10.08 ATR BRCA1 CDKN1A NPAT PRKDC RAD50
13 integument MP:0010771 10.01 ATM ATR BRCA1 CDKN1A CHEK1 PRKDC
14 nervous system MP:0003631 10 ATM ATR BRCA1 CDKN1A CHEK2 MRE11
15 reproductive system MP:0005389 9.77 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
16 pigmentation MP:0001186 9.55 ATR BRCA1 PRKDC RAD50 TP53
17 respiratory system MP:0005388 9.17 ATR BRCA1 CDKN1A NPAT PRKDC RAD50
Sources

Drugs & Therapeutics for Ataxia-Telangiectasia

About this section

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

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Mecasermin Approved, Investigational Phase 4 68562-41-4
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
5
Clonidine Approved Phase 4 4205-90-7 2803
6
Metformin Approved Phase 4 657-24-9 14219 4091
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Amantadine Approved Phase 4 768-94-5 2130
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10 Estradiol 17 beta-cypionate Phase 4
11 arginine Phase 4
12 Adrenergic alpha-Agonists Phase 4
13 Hormone Antagonists Phase 4,Phase 3,Not Applicable
14 Estrogens Phase 4
15 Analgesics Phase 4
16 Estradiol 3-benzoate Phase 4
17 insulin Phase 4
18 Adrenergic alpha-2 Receptor Agonists Phase 4
19 Sympatholytics Phase 4
20 Adrenergic Agents Phase 4
21 Antihypertensive Agents Phase 4
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
23 Autonomic Agents Phase 4,Phase 3,Not Applicable
24 Insulin, Globin Zinc Phase 4
25 Adrenergic Agonists Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
27 Mitogens Phase 4,Phase 2
28 Hormones Phase 4,Phase 3,Not Applicable
29 Neurotransmitter Agents Phase 4
30 Contraceptive Agents Phase 4
31 Hypoglycemic Agents Phase 4
32 Dopamine Agents Phase 4
33 Antiviral Agents Phase 4,Phase 1,Phase 2,Not Applicable
34 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
35 Antiparkinson Agents Phase 4
36 Analgesics, Non-Narcotic Phase 4
37
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Not Applicable 50-02-2 5743
38
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Not Applicable 1177-87-3
39 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
40 Immunologic Factors Phase 3,Phase 1,Phase 2,Not Applicable
41 Vaccines Phase 3
42 Anti-Inflammatory Agents Phase 3,Not Applicable
43 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
44 Antiemetics Phase 3,Not Applicable
45 BB 1101 Phase 3,Not Applicable
46 glucocorticoids Phase 3,Not Applicable
47 Gastrointestinal Agents Phase 3,Not Applicable
48 HIV Protease Inhibitors Phase 3
49
protease inhibitors Phase 3
50 Dexamethasone 21-phosphate Phase 3

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
5 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Recruiting NCT03563053 Phase 3
6 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
7 Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer Recruiting NCT03732820 Phase 3 olaparib;abiraterone acetate
8 Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell Transplant Completed NCT00110045 Phase 2 caspofungin acetate
9 To Assess Safety and Efficacy of Agents Targeting DNA Damage Repair With Olaparib Versus Olaparib Monotherapy. Recruiting NCT03330847 Phase 2 Olaparib Continuous (28-Day cycle) 300 mg BD.;AZD6738 160 mg OD + olaparib continuous 300 mg BD (28-day cycle).;AZD1775 150 mg BD + olaparib 200 mg BD (21-day cycle).
10 A Study of AZD6738 and Acalabrutinib in Subjects With Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) Recruiting NCT03328273 Phase 1, Phase 2 AZD6738;acalabrutinib
11 9-ING-41 in Patients With Advanced Cancers Recruiting NCT03678883 Phase 1, Phase 2 9-ING-41;Gemcitabine - 21 day cycle;Doxorubicin.;Lomustine;Carboplatin.;Nab paclitaxel.;Paclitaxel.;Gemcitabine - 28 day cycle
12 Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer Patients Active, not recruiting NCT01063517 Phase 2 olaparib;paclitaxel;Placebo
13 N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T) Not yet recruiting NCT03759678 Phase 2 IB1001
14 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2 MK-4827
15 First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344
16 A Study to Investigate Biomarker Effects of Pre-Surgical Treatment With DNA Damage Repair (DDR) Agents in Patients With Head and Neck Squamous Cell Carcinoma (HNSCC). Recruiting NCT03022409 Phase 1 AZD6738;Olaparib
17 A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer Recruiting NCT03423628 Phase 1 AZD1390
18 ATRi Transition Rollover Study Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
19 AZD6738 & Gemcitabine as Combination Therapy Not yet recruiting NCT03669601 Phase 1 AZD6738;Gemcitabine
20 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
21 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Unknown status NCT02246491 Not Applicable
22 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348 Not Applicable
23 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
24 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200 Not Applicable
25 Susceptibility to Infections in Ataxia Telangiectasia Completed NCT02345135 Not Applicable
26 Study for Treatment of Cancer in Children With Ataxia-telangiectasia Completed NCT00187057 Not Applicable vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
27 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
28 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
29 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia Recruiting NCT03357978 Not Applicable
30 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
31 Blood Markers of Early Pancreas Cancer Recruiting NCT03568630
32 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
33 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
34 The Use of Air Cleaners to Mitigate Cardiopulmonary Health Impact of Indoor Exposure to Particles and Phthalates Recruiting NCT03500614 Not Applicable
35 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
36 Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Terminated NCT02857894

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ataxia-Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia-Telangiectasia:
Renexus� (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Ataxia-Telangiectasia:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: ataxia telangiectasia

Sources

Genetic Tests for Ataxia-Telangiectasia

About this section

Genetic tests related to Ataxia-Telangiectasia:

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

Anatomical Context for Ataxia-Telangiectasia

About this section

MalaCards organs/tissues related to Ataxia-Telangiectasia:

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

Publications for Ataxia-Telangiectasia

About this section

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 1228)
# Title Authors Year
1
Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis? ( 29582093 )
2018
2
3F-Box protein 32 degrades ataxia telangiectasia and Rad3-related and regulates DNA damage response induced by gemcitabine in pancreatic cancer. ( 29805624 )
2018
3
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia. ( 29866155 )
2018
4
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
5
Atm reactivation reverses ataxia telangiectasia phenotypes in vivo. ( 29472706 )
2018
6
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature. ( 29600275 )
2018
7
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. ( 29489040 )
2018
8
B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients. ( 29739685 )
2018
9
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
10
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing. ( 29664460 )
2018
11
The Identification of Potent, Selective, and Orally Available Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase: The Discovery of AZD0156 (8-{6-[3-(Dimethylamino)propoxy]pyridin-3-yl}-3-methyl-1-(tetrahydro-2 H-pyran-4-yl)-1,3-dihydro-2 H-imidazo[4,5- c]quinolin-2-one). ( 29683659 )
2018
12
Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands. ( 29978608 )
2018
13
Ataxia telangiectasia mutated kinase deficiency impairs the autophagic response early during myocardial infarction. ( 29652546 )
2018
14
Ataxia-Telangiectasia Mutated Kinase in the Control of Oxidative Stress, Mitochondria, and Autophagy in Cancer: A Maestro With a Large Orchestra. ( 29616191 )
2018
15
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
16
Correction to Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 29969258 )
2018
17
Nuclear factor erythroid 2-related factor 2-antioxidant activation through the action of ataxia telangiectasia-mutated serine/threonine kinase is essential to counteract oxidative stress in bovine mammary epithelial cells. ( 29605311 )
2018
18
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome. ( 29620677 )
2018
19
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
20
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
21
Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone. ( 29608596 )
2018
22
Ataxia telangiectasia mutated kinase is an autophagic balancer at the onset of heart failure. ( 29750568 )
2018
23
Ataxia-Telangiectasia Mutated (ATM) Kinase Regulates eNOS Expression and Modulates Radiosensitivity in Endothelial Cells Exposed to Ionizing Radiation. ( 29474156 )
2018
24
<sup>1</sup> H,<sup>15</sup>N, and<sup>13</sup>C chemical shift assignments of the micelle immersed FAT C-terminal (FATC) domains of the human protein kinases ataxia-telangiectasia mutated (ATM) and DNA-dependent protein kinase catalytic subunit (DNA-PKcs) fused to the B1 domain of streptococcal protein G (GB1). ( 29349619 )
2018
25
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
26
Ataxia-telangiectasia gene (<i>ATM</i>) mutation heterozygosity in breast cancer: a narrative review. ( 29719442 )
2018
27
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
28
Neurovisual Assessment in Children with Ataxia Telangiectasia. ( 28992644 )
2018
29
Ataxia Telangiectasia Mutated Protein Loss and Benefit From Oxaliplatin-based Chemotherapy in Colorectal Cancer. ( 30042009 )
2018
30
Retroperitoneal extramedullary hematopoietic pseudotumor in ataxia-telangiectasia. ( 30046399 )
2018
31
PATRIOT: A phase I study to assess the tolerability, safety and biological effects of a specific ataxia telangiectasia and Rad3-related (ATR) inhibitor (AZD6738) as a single agent and in combination with palliative radiation therapy in patients with solid tumours. ( 30073210 )
2018
32
Ataxia telangiectasia mutated deficiency does not result in genetic susceptibility to 50 Hz magnetic fields exposure in mouse embryonic fibroblasts. ( 30091795 )
2018
33
Secondary enuresis and urological manifestations in children with ataxia telangiectasia. ( 30100180 )
2018
34
Palbociclib enhances radiosensitivity of hepatocellular carcinoma and cholangiocarcinoma via inhibiting ataxia telangiectasia-mutated kinase-mediated DNA damage response. ( 30103095 )
2018
35
Ataxia-telangiectasia: A review of movement disorders, clinical features and genotype correlations - Addendum. ( 30230625 )
2018
36
Treatment of Granulomas in Patients With Ataxia Telangiectasia. ( 30279689 )
2018
37
A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia. ( 30279714 )
2018
38
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. ( 30301590 )
2018
39
The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia. ( 30338439 )
2018
40
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations. ( 30339652 )
2018
41
Ataxia telangiectasia alters the ApoB and reelin pathway. ( 30343341 )
2018
42
Discovery and Characterization of AZD6738, a Potent Inhibitor of Ataxia Telangiectasia Mutated and Rad3 Related (ATR) Kinase with Application as an Anticancer Agent. ( 30346772 )
2018
43
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia. ( 30363071 )
2018
44
Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines. ( 30389153 )
2018
45
Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice. ( 30400801 )
2018
46
Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report. ( 30402232 )
2018
47
Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia. ( 30420857 )
2018
48
DNA damage and repair in individuals with ataxia-telangiectasia and their parents. ( 30442337 )
2018
49
Localization of the kinase Ataxia Telangiectasia Mutated to Adenovirus E4 mutant DNA replication centers is important for its inhibitory effect on viral DNA accumulation. ( 30453211 )
2018
50
Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism. ( 30454873 )
2018
Sources

Variations for Ataxia-Telangiectasia

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

75 (show all 44)
# Symbol AA change Variation ID SNP ID
1 ATM p.Pro292Leu VAR_010802 rs747727055
2 ATM p.Ile323Val VAR_010803 rs587781511
3 ATM p.Phe570Ser VAR_010808 rs777301065
4 ATM p.Asn768Asp VAR_010812
5 ATM p.Arg785Cys VAR_010813 rs587778065
6 ATM p.Leu950Arg VAR_010815 rs786203054
7 ATM p.Leu1001Gln VAR_010816
8 ATM p.His1082Leu VAR_010819
9 ATM p.Glu1091Asp VAR_010820
10 ATM p.Leu1420Pro VAR_010823
11 ATM p.Leu1465Pro VAR_010826 rs730881391
12 ATM p.Pro1566Arg VAR_010827
13 ATM p.Thr1743Ile VAR_010831 rs587779844
14 ATM p.Val1913Gly VAR_010836 rs106050168
15 ATM p.Asp2016Gly VAR_010838 rs587781302
16 ATM p.Gly2063Glu VAR_010839 rs866290641
17 ATM p.Ala2067Asp VAR_010840 rs397514577
18 ATM p.Ser2218Cys VAR_010844
19 ATM p.Arg2227Cys VAR_010846 rs564652222
20 ATM p.Val2424Gly VAR_010854 rs28904921
21 ATM p.Tyr2470Asp VAR_010858 rs876659365
22 ATM p.Trp2491Arg VAR_010860
23 ATM p.His2554Asp VAR_010862
24 ATM p.Asp2625Gln VAR_010863
25 ATM p.Leu2656Pro VAR_010865 rs121434218
26 ATM p.Ile2702Arg VAR_010870 rs876659735
27 ATM p.Ala2726Val VAR_010874
28 ATM p.Cys2824Tyr VAR_010878 rs876660927
29 ATM p.Phe2827Cys VAR_010879 rs121434216
30 ATM p.Pro2829Leu VAR_010880 rs938431501
31 ATM p.Arg2832Cys VAR_010881 rs587779872
32 ATM p.Arg2849Pro VAR_010882
33 ATM p.Ser2855Arg VAR_010883 rs780905851
34 ATM p.Gly2867Arg VAR_010886
35 ATM p.Glu2904Gly VAR_010889 rs786202826
36 ATM p.Arg2909Gly VAR_010890
37 ATM p.Arg3008Cys VAR_010893 rs587782292
38 ATM p.Leu1046Pro VAR_077237 rs568461905
39 ATM p.Gly2023Arg VAR_077238 rs11212587
40 ATM p.Leu2068Ser VAR_077239
41 ATM p.Tyr2080Asp VAR_077240 rs106479546
42 ATM p.Tyr2627His VAR_077241
43 ATM p.Phe2834Leu VAR_077242
44 ATM p.Asn3003Asp VAR_077243 rs1137889

ClinVar genetic disease variations for Ataxia-Telangiectasia:

6 (show top 50) (show all 7085)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.8578_8580delTCT (p.Ser2860del) deletion Uncertain significance rs786203976 GRCh38 Chromosome 11, 108345902: 108345904
2 ATM NM_000051.3(ATM): c.8578_8580delTCT (p.Ser2860del) deletion Uncertain significance rs786203976 GRCh37 Chromosome 11, 108216629: 108216631
3 ATM NM_000051.3(ATM): c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) deletion Conflicting interpretations of pathogenicity rs587776547 GRCh38 Chromosome 11, 108331887: 108331895
4 ATM NM_000051.3(ATM): c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) deletion Conflicting interpretations of pathogenicity rs587776547 GRCh37 Chromosome 11, 108202614: 108202622
5 ATM NM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) deletion Pathogenic rs796051856 GRCh38 Chromosome 11, 108329210: 108329215
6 ATM NM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del) deletion Pathogenic rs796051856 GRCh37 Chromosome 11, 108199937: 108199942
7 ATM NM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274 single nucleotide variant Pathogenic rs774925473 GRCh37 Chromosome 11, 108179837: 108179837
8 ATM NM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274 single nucleotide variant Pathogenic rs774925473 GRCh38 Chromosome 11, 108309110: 108309110
9 ATM NM_000051.3(ATM): c.8480T> G (p.Phe2827Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121434216 GRCh37 Chromosome 11, 108216531: 108216531
10 ATM NM_000051.3(ATM): c.8480T> G (p.Phe2827Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121434216 GRCh38 Chromosome 11, 108345804: 108345804
11 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh37 Chromosome 11, 108199929: 108199929
12 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh38 Chromosome 11, 108329202: 108329202
13 ATM NM_000051.3(ATM): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55861249 GRCh37 Chromosome 11, 108098533: 108098533
14 ATM NM_000051.3(ATM): c.103C> T (p.Arg35Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55861249 GRCh38 Chromosome 11, 108227806: 108227806
15 ATM NM_000051.3(ATM): c.3118A> G (p.Met1040Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3092857 GRCh37 Chromosome 11, 108143299: 108143299
16 ATM NM_000051.3(ATM): c.3118A> G (p.Met1040Val) single nucleotide variant Conflicting interpretations of pathogenicity rs3092857 GRCh38 Chromosome 11, 108272572: 108272572
17 ATM NM_000051.3(ATM): c.9139C> T (p.Arg3047Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434219 GRCh37 Chromosome 11, 108236203: 108236203
18 ATM NM_000051.3(ATM): c.9139C> T (p.Arg3047Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434219 GRCh38 Chromosome 11, 108365476: 108365476
19 ATM NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) indel Pathogenic/Likely pathogenic rs267606668 GRCh37 Chromosome 11, 108203575: 108203576
20 ATM NM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) indel Pathogenic/Likely pathogenic rs267606668 GRCh38 Chromosome 11, 108332848: 108332849
21 ATM NM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs) indel Pathogenic rs587776549 GRCh38 Chromosome 11, 108272813: 108272815
22 ATM NM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs) indel Pathogenic rs587776549 GRCh37 Chromosome 11, 108143540: 108143542
23 ATM NM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs) deletion Pathogenic rs587776550 GRCh38 Chromosome 11, 108333946: 108333949
24 ATM NM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs) deletion Pathogenic rs587776550 GRCh37 Chromosome 11, 108204673: 108204676
25 ATM NM_000051.3(ATM): c.3576G> A (p.Lys1192=) single nucleotide variant Pathogenic rs587776551 GRCh38 Chromosome 11, 108281168: 108281168
26 ATM NM_000051.3(ATM): c.3576G> A (p.Lys1192=) single nucleotide variant Pathogenic rs587776551 GRCh37 Chromosome 11, 108151895: 108151895
27 ATM NM_000051.3(ATM): c.7327C> T (p.Arg2443Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434220 GRCh37 Chromosome 11, 108200960: 108200960
28 ATM NM_000051.3(ATM): c.7327C> T (p.Arg2443Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434220 GRCh38 Chromosome 11, 108330233: 108330233
29 ATM NM_000051.3(ATM): c.1066-6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs201686625 GRCh38 Chromosome 11, 108248927: 108248927
30 ATM NM_000051.3(ATM): c.1066-6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs201686625 GRCh37 Chromosome 11, 108119654: 108119654
31 ATM NM_000051.3(ATM): c.4081C> T (p.Gln1361Ter) single nucleotide variant Pathogenic rs121434222 GRCh37 Chromosome 11, 108158414: 108158414
32 ATM NM_000051.3(ATM): c.4081C> T (p.Gln1361Ter) single nucleotide variant Pathogenic rs121434222 GRCh38 Chromosome 11, 108287687: 108287687
33 ATM NM_000051.3(ATM): c.2839-579_2839-576del deletion Likely pathogenic rs587776552 GRCh38 Chromosome 11, 108270485: 108270488
34 ATM NM_000051.3(ATM): c.2839-579_2839-576del deletion Likely pathogenic rs587776552 GRCh37 Chromosome 11, 108141212: 108141215
35 ATM NM_000051.3(ATM): c.2250G> A (p.Lys750=) single nucleotide variant Pathogenic/Likely pathogenic rs1137887 GRCh38 Chromosome 11, 108256340: 108256340
36 ATM NM_000051.3(ATM): c.2250G> A (p.Lys750=) single nucleotide variant Pathogenic/Likely pathogenic rs1137887 GRCh37 Chromosome 11, 108127067: 108127067
37 ATM NM_000051.3(ATM): c.8030A> G (p.Tyr2677Cys) single nucleotide variant Uncertain significance rs28942103 GRCh37 Chromosome 11, 108205715: 108205715
38 ATM NM_000051.3(ATM): c.8030A> G (p.Tyr2677Cys) single nucleotide variant Uncertain significance rs28942103 GRCh38 Chromosome 11, 108334988: 108334988
39 ATM NM_000051.3(ATM): c.496+5G> A single nucleotide variant Likely pathogenic rs796051858 GRCh38 Chromosome 11, 108235839: 108235839
40 ATM NM_000051.3(ATM): c.496+5G> A single nucleotide variant Likely pathogenic rs796051858 GRCh37 Chromosome 11, 108106566: 108106566
41 ATM NM_000051.3(ATM): c.146C> G (p.Ser49Cys) single nucleotide variant risk factor rs1800054 GRCh37 Chromosome 11, 108098576: 108098576
42 ATM NM_000051.3(ATM): c.146C> G (p.Ser49Cys) single nucleotide variant risk factor rs1800054 GRCh38 Chromosome 11, 108227849: 108227849
43 ATM NM_000051.3(ATM): c.6200C> A (p.Ala2067Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397514577 GRCh37 Chromosome 11, 108188101: 108188101
44 ATM NM_000051.3(ATM): c.6200C> A (p.Ala2067Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397514577 GRCh38 Chromosome 11, 108317374: 108317374
45 ATM NM_000051.3(ATM): c.1009C> T (p.Arg337Cys) single nucleotide variant Uncertain significance rs138398778 GRCh38 Chromosome 11, 108247071: 108247071
46 ATM NM_000051.3(ATM): c.1009C> T (p.Arg337Cys) single nucleotide variant Uncertain significance rs138398778 GRCh37 Chromosome 11, 108117798: 108117798
47 ATM NM_000051.3(ATM): c.1010G> A (p.Arg337His) single nucleotide variant Conflicting interpretations of pathogenicity rs202160435 GRCh38 Chromosome 11, 108247072: 108247072
48 ATM NM_000051.3(ATM): c.1010G> A (p.Arg337His) single nucleotide variant Conflicting interpretations of pathogenicity rs202160435 GRCh37 Chromosome 11, 108117799: 108117799
49 ATM NM_000051.3(ATM): c.1073A> G (p.Asn358Ser) single nucleotide variant Uncertain significance rs149636614 GRCh38 Chromosome 11, 108248940: 108248940
50 ATM NM_000051.3(ATM): c.1073A> G (p.Asn358Ser) single nucleotide variant Uncertain significance rs149636614 GRCh37 Chromosome 11, 108119667: 108119667
Sources

Expression for Ataxia-Telangiectasia

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

Pathways for Ataxia-Telangiectasia

About this section

Pathways related to Ataxia-Telangiectasia according to KEGG:

37
# Name Kegg Source Accession
1 Homologous recombination hsa03440
2 Cell cycle hsa04110
3 Cellular senescence hsa04218

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

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 66
Show member pathways
 13.91 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
2
Cell Cycle, Mitotic 66
Show member pathways
 13.59 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3
DNA Double-Strand Break Repair 66
Show member pathways
 13.36 ATM ATR BRCA1 CHEK1 CHEK2 DCLRE1C
4
Cellular Senescence (REACTOME) 66
Show member pathways
 13.27 ATM ATR CDKN1A MRE11 NBN RAD50
5
Regulation of TP53 Activity 66
Show member pathways
 13.17 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
6
TCR Signaling (Qiagen) 64
Show member pathways
 13.1 ATM ATR BRCA1 CHEK2 MRE11 NBN
7
Human cytomegalovirus infection 37
Show member pathways
 13.08 ATM ATR CDKN1A CHEK1 PCNA TP53
8
DNA Damage 4
12.92 APTX ATM ATR BRCA1 CDKN1A CHEK1
9
Chks in Checkpoint Regulation 64
Show member pathways
 12.85 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
10
Cell Cycle Checkpoints 66
Show member pathways
 12.84 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
11
Meiosis 66
Show member pathways
 12.7 ATM ATR BRCA1 MRE11 NBN RAD50
12
Mitotic G1-G1/S phases 66
Show member pathways
 12.67 ATM CDKN1A PCNA RPA1 RPA2 TP53
13
SUMOylation 66
Show member pathways
 12.62 BRCA1 PCNA RPA1 TP53 TP53BP1
14
DNA Double Strand Break Response 66
Show member pathways
 12.61 ATM BRCA1 CHEK2 DCLRE1C MRE11 NBN
15
Human T-cell leukemia virus 1 infection 37
12.6 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
16
Cell cycle 1 37
12.57 ATM ATR CDKN1A CHEK1 CHEK2 PCNA
17
DNA Damage Response 1
Show member pathways
 12.55 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
18
MicroRNAs in cancer 37
12.51 ATM BRCA1 CDKN1A TP53
19
Apoptosis Pathway 72
Show member pathways
 12.51 ATM ATR CHEK1 CHEK2 TP53
20
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.51 ATM ATR BRCA1 CHEK1 MRE11 NBN
21
DNA Damage/Telomere Stress Induced Senescence 66
Show member pathways
 12.49 ATM CDKN1A MRE11 NBN RAD50 TP53
22
p53 Signaling 64
Show member pathways
 12.48 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
23
E2F mediated regulation of DNA replication 66
Show member pathways
 12.46 ATR CHEK1 PCNA RPA1 RPA2
24
Cellular senescence (KEGG) 37
12.42 ATM ATR CDKN1A CHEK1 CHEK2 MRE11
25
Integrated Breast Cancer Pathway 1
12.39 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
26
Cyclins and Cell Cycle Regulation 64
Show member pathways
 12.37 ATM ATR CDKN1A TP53
27
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 66
Show member pathways
 12.36 ATM BRCA1 MRE11 NBN RAD50 RPA1
28
Cell cycle Role of SCF complex in cell cycle regulation 22
Show member pathways
 12.26 BRCA1 CDKN1A CHEK1 CHEK2
29
Cellular response to heat stress 66
Show member pathways
 12.24 ATM ATR RPA1 RPA2
30
Retinoblastoma (RB) in Cancer 1
12.1 CDKN1A CHEK1 NPAT PCNA PRKDC RPA1
31
SMAD Signaling Network 64
12.09 ATM ATR CDKN1A TP53
32
ATM Pathway 64
Show member pathways
 12.01 ATM BRCA1 CDKN1A CHEK1 CHEK2 MRE11
33
Fanconi anemia pathway 37 66
11.96 ATR BRCA1 RPA1 RPA2
34
Senescence and Autophagy in Cancer 1
11.93 CDKN1A PCNA TP53
35
Pathways Affected in Adenoid Cystic Carcinoma 1
11.92 ATM BRCA1 CHEK1 CHEK2 PRKDC TP53
36
TP53 Regulates Transcription of Cell Cycle Genes 66
Show member pathways
 11.91 CDKN1A PCNA TP53
37
Mismatch repair 37 66 1
Show member pathways
 11.89 PCNA RPA1 RPA2
38
Platinum drug resistance 37
11.84 ATM BRCA1 CDKN1A TP53
39
DNA damage_Role of Brca1 and Brca2 in DNA repair 22
11.83 ATM ATR BRCA1 CHEK2 MRE11 NBN
40
p53 pathway 1
11.82 ATM ATR CHEK1 CHEK2 TP53
41
Regulation of Telomerase 1
11.8 ATM MRE11 NBN RAD50
42
E2F transcription factor network 1
11.76 ATM BRCA1 CDKN1A
43
Regulation of TP53 Expression and Degradation 66
Show member pathways
 11.76 ATM CHEK2 TP53
44
Transcription_P53 signaling pathway 22
11.73 ATM ATR CDKN1A TP53
45
BRCA1 Pathway 64
Show member pathways
 11.73 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
46
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 22
Show member pathways
 11.69 ATM ATR CHEK1 CHEK2 TP53
47
ATM Signaling Network in Development and Disease 1
11.68 ATM ATR CHEK1 CHEK2 DCLRE1C MRE11
48
Hepatitis C and Hepatocellular Carcinoma 1
11.59 BRCA1 CDKN1A TP53
49
miRNAs involved in DNA damage response 1
11.57 ATM CDKN1A TP53
50
GADD45 Pathway 64
11.57 ATM ATR BRCA1 CDKN1A PCNA TP53
Sources

GO Terms for Ataxia-Telangiectasia

About this section

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.97 ATR BRCA1 MRE11 NBN RAD50 TP53BP1
2 nuclear body GO:0016604 9.92 CDKN1A PCNA RPA2 TP53 TP53BP1
3 chromatin GO:0000785 9.83 APTX CHEK1 MRE11 PCNA RPA2
4 PML body GO:0016605 9.8 ATR CHEK2 MRE11 NBN RPA1 RPA2
5 condensed nuclear chromosome GO:0000794 9.78 BRCA1 CHEK1 RAD50 RPA2
6 site of double-strand break GO:0035861 9.72 MRE11 NBN RAD50 RPA2 TP53BP1
7 replication fork GO:0005657 9.71 CHEK1 NBN PCNA TP53BP1
8 Mre11 complex GO:0030870 9.63 MRE11 NBN RAD50
9 DNA replication factor A complex GO:0005662 9.56 RPA1 RPA2
10 chromosome, telomeric region GO:0000781 9.56 ATM CHEK1 CHEK2 MRE11 NBN RAD50
11 nonhomologous end joining complex GO:0070419 9.55 DCLRE1C PRKDC
12 DNA repair complex GO:1990391 9.54 ATM TP53BP1
13 PCNA-p21 complex GO:0070557 9.51 CDKN1A PCNA
14 nuclear chromosome, telomeric region GO:0000784 9.36 ATM ATR DCLRE1C MRE11 NBN PCNA
15 nucleus GO:0005634 10.32 APTX ATM ATR BRCA1 CDKN1A CHEK1
16 nucleoplasm GO:0005654 10.11 APTX ATM ATR BRCA1 CDKN1A CHEK1

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

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.99 APTX DCLRE1C MRE11 RAD50
2 meiotic cell cycle GO:0051321 9.99 MRE11 NBN RAD50 RPA1
3 double-strand break repair via homologous recombination GO:0000724 9.97 BRCA1 MRE11 NBN RAD50 RPA1 RPA2
4 double-strand break repair GO:0006302 9.97 APTX BRCA1 CHEK2 DCLRE1C MRE11 NBN
5 regulation of signal transduction by p53 class mediator GO:1901796 9.93 ATM CHEK1 CHEK2 TP53
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.92 ATM BRCA1 CHEK2 PRKDC
7 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.92 ATM CDKN1A CHEK2 PCNA TP53
8 double-strand break repair via nonhomologous end joining GO:0006303 9.92 ATM BRCA1 DCLRE1C MRE11 NBN PRKDC
9 G1/S transition of mitotic cell cycle GO:0000082 9.91 CDKN1A RPA1 RPA2
10 interstrand cross-link repair GO:0036297 9.91 ATR DCLRE1C RPA1 RPA2
11 response to ionizing radiation GO:0010212 9.91 ATM BRCA1 DCLRE1C PRKDC
12 DNA damage checkpoint GO:0000077 9.91 ATM ATR CHEK1 CHEK2 NBN TP53BP1
13 transcription-coupled nucleotide-excision repair GO:0006283 9.9 PCNA RPA1 RPA2
14 DNA duplex unwinding GO:0032508 9.9 MRE11 NBN RAD50
15 regulation of cellular response to heat GO:1900034 9.9 ATM ATR RPA1 RPA2
16 cellular response to UV GO:0034644 9.89 ATR PCNA TP53
17 nucleotide-excision repair GO:0006289 9.88 RPA1 RPA2 TP53
18 base-excision repair GO:0006284 9.88 MRE11 RPA1 RPA2 TP53
19 reciprocal meiotic recombination GO:0007131 9.88 ATM MRE11 RAD50 RPA2
20 replicative senescence GO:0090399 9.88 ATM ATR CDKN1A CHEK1 CHEK2 TP53
21 DNA damage response, detection of DNA damage GO:0042769 9.87 PCNA RPA1 RPA2
22 nucleotide-excision repair, DNA incision GO:0033683 9.87 PCNA RPA1 RPA2
23 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.87 PCNA RPA1 RPA2
24 translesion synthesis GO:0019985 9.87 PCNA RPA1 RPA2
25 intrinsic apoptotic signaling pathway GO:0097193 9.86 CDKN1A NBN TP53
26 cellular response to gamma radiation GO:0071480 9.86 ATM ATR CHEK2 TP53
27 mismatch repair GO:0006298 9.85 PCNA RPA1 RPA2
28 response to gamma radiation GO:0010332 9.85 CHEK2 PRKDC TP53
29 telomere capping GO:0016233 9.85 NBN PRKDC RAD50
30 DNA double-strand break processing GO:0000729 9.85 ATM BRCA1 MRE11 NBN RAD50
31 telomere maintenance via telomerase GO:0007004 9.84 MRE11 RAD50 RPA1 RPA2
32 nucleotide-excision repair, DNA gap filling GO:0006297 9.83 PCNA RPA1 RPA2
33 positive regulation of protein autophosphorylation GO:0031954 9.83 MRE11 NBN RAD50
34 error-free translesion synthesis GO:0070987 9.83 PCNA RPA1 RPA2
35 error-prone translesion synthesis GO:0042276 9.82 PCNA RPA1 RPA2
36 positive regulation of kinase activity GO:0033674 9.82 MRE11 NBN RAD50
37 telomere maintenance via semi-conservative replication GO:0032201 9.81 PCNA RPA1 RPA2
38 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.8 BRCA1 CHEK2 TP53
39 positive regulation of telomere maintenance GO:0032206 9.79 MRE11 NBN RAD50
40 DNA damage induced protein phosphorylation GO:0006975 9.77 ATM CHEK1 CHEK2
41 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.74 NBN TP53
42 signal transduction in response to DNA damage GO:0042770 9.74 CHEK2 NBN
43 negative regulation of telomere capping GO:1904354 9.74 ATM NBN RAD50
44 DNA unwinding involved in DNA replication GO:0006268 9.73 RPA1 RPA2
45 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.73 ATM ATR
46 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.73 BRCA1 CHEK1
47 telomere maintenance via recombination GO:0000722 9.73 RAD50 RPA2
48 cellular response to X-ray GO:0071481 9.73 ATM TP53BP1
49 V(D)J recombination GO:0033151 9.73 DCLRE1C PRKDC
50 mitotic G1 DNA damage checkpoint GO:0031571 9.72 RPA2 TP53

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.99 ATM ATR CDKN1A CHEK1 CHEK2 PRKDC
2 protein serine/threonine kinase activity GO:0004674 9.95 ATM ATR CHEK1 CHEK2 PRKDC
3 nucleotide binding GO:0000166 9.92 ATM ATR CHEK1 CHEK2 RAD50
4 enzyme binding GO:0019899 9.89 BRCA1 PCNA PRKDC RPA2 TP53
5 ubiquitin protein ligase binding GO:0031625 9.8 BRCA1 CDKN1A CHEK2 RPA2 TP53
6 single-stranded DNA binding GO:0003697 9.77 APTX RPA1 RPA2
7 double-stranded DNA binding GO:0003690 9.76 APTX MRE11 PRKDC RPA2
8 p53 binding GO:0002039 9.73 TP53 TP53BP1 TRIM29
9 ATP-dependent DNA helicase activity GO:0004003 9.61 MRE11 NBN RAD50
10 5'-3' exonuclease activity GO:0008409 9.58 DCLRE1C MRE11
11 G-rich strand telomeric DNA binding GO:0098505 9.58 RPA1 RPA2
12 double-stranded telomeric DNA binding GO:0003691 9.57 MRE11 RAD50
13 MutLalpha complex binding GO:0032405 9.54 ATR PCNA
14 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.5 DCLRE1C MRE11 RAD50
15 DNA-dependent protein kinase activity GO:0004677 9.48 ATM PRKDC
16 protein N-terminus binding GO:0047485 9.43 APTX ATM NBN NPAT RPA2 TP53
17 single-stranded telomeric DNA binding GO:0043047 9.33 MRE11 RAD50 RPA1
18 damaged DNA binding GO:0003684 9.23 APTX BRCA1 DCLRE1C NBN PCNA RPA1
19 protein binding GO:0005515 10.35 APTX ATM ATR BRCA1 CDKN1A CHEK1
20 DNA binding GO:0003677 10.03 APTX ATM ATR BRCA1 MRE11 PCNA
Sources

Sources for Ataxia-Telangiectasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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