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AT
MCID: ATX030
MIFTS: 80

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 25 43 58 72 13 37 39
Ataxia Telangiectasia 12 73 20 53 72 36 54 42 44 15 70
Louis-Bar Syndrome 57 73 20 43 58 72
at 57 20 72
Ataxia-Telangiectasia Syndrome 29 6
At1 57 72
Immunodeficiency with Ataxia Telangiectasia 20
Telangiectasia, Cerebello-Oculocutaneous 43
Cerebello-Oculocutaneous Telangiectasia 20
Ataxia Telangiectasia Syndrome 43
Ataxia-Telangiectasia Variant 70
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
a-T 43
Atm 43

Characteristics:

Orphanet epidemiological data:

58
ataxia-telangiectasia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (France),1-9/100000 (Italy); Age of onset: Childhood,Infancy; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Skin diseases Endocrine diseases Blood diseases Ear diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Sources

Summaries for Ataxia-Telangiectasia

About this section
MedlinePlus Genetics : 43 Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.Affected individuals tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. The level of this protein is normally increased in the bloodstream of pregnant women, but it is unknown why individuals with ataxia-telangiectasia have elevated AFP or what effects it has in these individuals.People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. The life expectancy of people with ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.

MalaCards based summary : Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder 1 and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 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 Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and eye, and related phenotypes are nystagmus and ataxia

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

GARD : 20 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) (Updated 05-Apr-2021)

MedlinePlus : 42 Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, red spider veins, called telangiectasias, on the skin and eyes Lung infections Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 53 Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays.  Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

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

UniProtKB/Swiss-Prot : 72 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 : 73 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 854)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 33.3 NBN MRE11
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.1 MRE11 ATM APTX
3 nijmegen breakage syndrome 33.0 TP53 RPA1 RAD50 NBN MRE11 H2AX
4 telangiectasis 32.9 NBN CHEK2 ATM
5 ocular motor apraxia 32.2 ATM APTX
6 premature menopause 31.9 TP53 NBN CHEK2 BRCA1 ATM
7 lynch syndrome 31.9 TP53 RAD50 NBN MRE11 CHEK2 BRCA1
8 synchronous bilateral breast carcinoma 31.8 TP53 BRCA1 ATM
9 bile duct cystadenoma 31.8 CHEK2 ATM
10 severe combined immunodeficiency with sensitivity to ionizing radiation 31.8 TP53BP1 PRKDC ATM
11 cervical adenoma malignum 31.8 TP53 CHEK2 BRCA1 ATM
12 maxillary sinus adenocarcinoma 31.8 TP53 ATM
13 melanoma, cutaneous malignant 1 31.7 TP53 CHEK2 BRCA1 ATM
14 gastric cancer, hereditary diffuse 31.7 TP53 MRE11 CHEK2 BRCA1 ATM
15 giant cell glioblastoma 31.7 TP53 C11orf65 ATM
16 pigmentary disorder, reticulate, with systemic manifestations, x-linked 31.7 TP53BP1 RPA2 CHEK1 BRCA1 ATM
17 primary autosomal recessive microcephaly 31.6 TP53BP1 CHEK1 BRCA1 ATM
18 skin melanoma 31.6 TP53 PCNA BRCA1 ATM
19 nephrolithiasis/osteoporosis, hypophosphatemic, 2 31.5 BRCA1 ATM
20 t-cell prolymphocytic leukemia 31.5 CHEK2 C11orf65 ATM
21 oculomotor apraxia 31.4 MRE11 ATM APTX
22 bloom syndrome 31.0 TP53 RPA1 H2AX BRCA1 ATM
23 xeroderma pigmentosum, complementation group a 30.9 TP53 RPA2 RPA1 ATM
24 microcephaly 30.9 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
25 xeroderma pigmentosum, variant type 30.9 TP53BP1 TP53 RPA2 RPA1 PRKDC NBN
26 mantle cell lymphoma 30.8 TP53 CHEK1 C11orf65 ATM
27 thymus lymphoma 30.8 TP53 PRKDC
28 werner syndrome 30.8 TP53 RPA1 PRKDC NBN MRE11 BRCA1
29 li-fraumeni syndrome 30.7 TP53 MRE11 CHEK2 CHEK1 BRCA1 ATM
30 sporadic breast cancer 30.7 TP53 NBN CHEK2 CHEK1 BRCA1 ATM
31 fanconi anemia, complementation group a 30.7 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
32 female breast cancer 30.6 TP53 BRCA1 ATM
33 bilateral breast cancer 30.6 TP53 CHEK2 BRCA1 ATM
34 hereditary breast ovarian cancer syndrome 30.4 TP53 RAD50 NBN MRE11 CHEK2 C11orf65
35 riddle syndrome 30.4 TP53BP1 H2AX BRCA1
36 cowden syndrome 30.4 TP53 CHEK2 BRCA1 ATM
37 hutchinson-gilford progeria syndrome 30.3 TP53BP1 TP53 PRKDC H2AX ATM
38 lig4 syndrome 30.2 TP53BP1 PRKDC NBN ATM APTX
39 cerebellar disease 30.2 TP53BP1 TP53 PRKDC NBN H2AX CHEK2
40 adenoid cystic carcinoma 30.2 TP53 CHEK2 BRCA1 ATM
41 autosomal recessive cerebellar ataxia 30.2 TP53BP1 TP53 PRKDC NBN CHEK2 CHEK1
42 mutagen sensitivity 30.2 TP53 BRCA1
43 ovarian cancer 30.1 TP53 RAD50 NBN MRE11 CHEK2 CHEK1
44 fallopian tube carcinoma 30.1 TP53 MRE11 BRCA1
45 nijmegen breakage syndrome-like disorder 30.1 RAD50 MRE11
46 seckel syndrome 30.0 TP53BP1 TP53 RPA2 PRKDC NBN H2AX
47 ataxia-telangiectasia-like disorder 2 11.6
48 ataxia and polyneuropathy, adult-onset 11.5
49 ataxia-telangiectasia with generalized skin pigmentation and early death 11.1
50 cerebellar hypoplasia 11.0

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



Diseases related to Ataxia-Telangiectasia
Sources

Symptoms & Phenotypes for Ataxia-Telangiectasia

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Human phenotypes related to Ataxia-Telangiectasia:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
tremor
myoclonus
dystonia
choreoathetosis
more
Growth Height:
short stature

Head And Neck Eyes:
strabismus
telangiectasia, conjunctival
fixation of gaze nystagmus

Genitourinary Internal Genitalia Male:
hypogonadism
impaired spermatogenesis

Respiratory Airways:
bronchiectasis
bronchitis

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

Laboratory Abnormalities:
increased levels of alpha fetoprotein
increased levels of carcinoembryonic antigen
reduced iga levels
reduced ige levels
reduced igg levels, particularly the igg2 subclass
more
Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

Head And Neck Head:
sinusitis

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

Genitourinary Internal Genitalia Female:
hypogonadism

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

Clinical features from OMIM®:

208900 (Updated 05-Apr-2021)

UMLS symptoms related to Ataxia-Telangiectasia:


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

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

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.79 RPA2
2 Decreased viability GR00221-A-1 10.79 CHEK1 RPA2
3 Decreased viability GR00221-A-2 10.79 BRCA1 CHEK1 CHEK2 RPA2
4 Decreased viability GR00221-A-3 10.79 BRCA1 CHEK1 ATM CHEK2 RPA2
5 Decreased viability GR00221-A-4 10.79 CHEK1 ATM CHEK2
6 Decreased viability GR00240-S-1 10.79 CHEK1
7 Decreased viability GR00249-S 10.79 ATR CHEK1 RPA1
8 Decreased viability GR00301-A 10.79 ATR BRCA1 CHEK1 RPA1
9 Decreased viability GR00342-S-2 10.79 CHEK2
10 Decreased viability GR00381-A-1 10.79 CHEK1
11 Decreased viability GR00386-A-1 10.79 CHEK1 RPA1
12 Decreased viability GR00402-S-2 10.79 CHEK1 RPA1 RPA2
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.28 ATM CHEK2 PCNA PRKDC TP53
14 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.28 ATM ATR BRCA1 CHEK1 CHEK2 NBN
15 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.28 ATM BRCA1 H2AX MRE11 NBN RAD50
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.18 ATR BRCA1 CHEK1 H2AX MRE11 NBN
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.18 ATM ATR BRCA1 CHEK1 H2AX MRE11
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.18 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
19 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.78 ATM ATR CHEK1 CHEK2
20 Decreased viability after gemcitabine stimulation GR00107-A-2 9.73 ATM ATR CHEK1 PRKDC
21 Decreased viability after ionizing radiation GR00232-A-2 9.58 ATM BRCA1 PRKDC
22 Decreased viability with cisplatin GR00101-A-4 9.54 ATR BRCA1 RPA1
23 Increased cell death in HCT116 cells GR00103-A-0 9.32 ATR PCNA
24 Increased viability with nutlin-3 GR00123-A 9.16 TP53 TP53BP1
25 Synthetic lethal with cisplatin GR00101-A-1 9.13 ATR BRCA1 CHEK1

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 APTX ATM ATR BRCA1 CHEK1 CHEK2
2 endocrine/exocrine gland MP:0005379 10.29 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
3 homeostasis/metabolism MP:0005376 10.28 APTX ATM ATR BRCA1 CHEK1 CHEK2
4 growth/size/body region MP:0005378 10.27 ATM ATR BRCA1 H2AX NBN NPAT
5 hematopoietic system MP:0005397 10.25 ATM ATR BRCA1 CHEK2 H2AX MRE11
6 immune system MP:0005387 10.21 ATM ATR BRCA1 CHEK2 H2AX MRE11
7 mortality/aging MP:0010768 10.2 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
8 embryo MP:0005380 10.15 ATM ATR BRCA1 CHEK1 MRE11 NBN
9 adipose tissue MP:0005375 10.13 APTX ATM ATR BRCA1 PCNA PRKDC
10 neoplasm MP:0002006 10.07 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
11 nervous system MP:0003631 9.9 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
12 reproductive system MP:0005389 9.47 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
13 pigmentation MP:0001186 9.43 ATR BRCA1 CHEK1 PRKDC RAD50 TP53
Sources

Drugs & Therapeutics for Ataxia-Telangiectasia

About this section

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

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Clonidine Approved Phase 4 4205-90-7 2803
4
Metformin Approved Phase 4 657-24-9 4091 14219
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
7
Amantadine Approved Phase 4 768-94-5 2130
8 insulin Phase 4
9 Adrenergic alpha-Agonists Phase 4
10 Adrenergic Agonists Phase 4
11 Mitogens Phase 4
12 Estradiol 3-benzoate Phase 4
13 Adrenergic Agents Phase 4
14 Antihypertensive Agents Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Sympatholytics Phase 4
17 Contraceptive Agents Phase 4
18 Estrogens Phase 4
19 Insulin, Globin Zinc Phase 4
20 Anti-Infective Agents Phase 4
21 Antiviral Agents Phase 4
22 Hypoglycemic Agents Phase 4
23 Neurotransmitter Agents Phase 4
24 Analgesics Phase 4
25 Dopamine Agents Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Antiparkinson Agents Phase 4
28
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
29
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
30
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
31 Immunologic Factors Phase 3
32 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
33 Vaccines Phase 3
34 BB 1101 Phase 3
35 Pharmaceutical Solutions Phase 3
36
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
37
Caspofungin Approved Phase 2 179463-17-3, 162808-62-0 468682 2826718
38
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
39
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
41
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
42
Threonine Approved, Nutraceutical Phase 1, Phase 2 72-19-5 6288
43
Tyrosine Approved, Investigational, Nutraceutical Phase 1, Phase 2 60-18-4 6057
44 Vitamin B9 Phase 2
45 Vitamin B Complex Phase 2
46 Folate Phase 2
47 Nutrients Phase 2
48 Trace Elements Phase 2
49 Vitamins Phase 2
50 Micronutrients Phase 2

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 The Effect of Amantadine on Movement Disorder 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 Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients With Ataxia Telangiectasia Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
7 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Unknown status NCT03962114 Phase 2
8 A Multicenter, Open, Phase II Study to Estimate the Activity and Safety of Caspofungin (CASP) in the First-Line Treatment of Probable and Proven Invasive Aspergillosis (IA) in Patients With Hematological Malignancies (HM) or Recipients of Autologous Haematopoietic Stem Cell Transplantation and Those With Allogeneic Haematopoietic Stem Cell Transplantation (HSCT) Completed NCT00110045 Phase 2 caspofungin acetate
9 Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study Recruiting NCT03759678 Phase 2 IB1001
10 A Phase 1/2 Proof-of-Concept Study Investigating AZD6738 Monotherapy and Acalabrutinib in Combination With AZD6738 (ATR Inhibitor) in Subjects With Relapsed or Refractory High-risk Chronic Lymphocytic Leukemia (CLL) Active, not recruiting NCT03328273 Phase 1, Phase 2 Ceralasertib;Acalabrutinib
11 A Phase 2A/2B Placebo-controlled Randomised Clinical Trial to Test the Ability of Triheptanoin to Protect Primary Airway Epithelial Cells Obtained From Participants With Ataxia-telangiectasia Against Death Induced by Glucose Deprivation Not yet recruiting NCT04513002 Phase 2
12 A Clinical Trial to Investigate Biomarker Effects of Pre-Surgical Treatment With DDR Agents in Patients With Head and Neck Squamous Cell Carcinoma (HNSCC) Who Are Planned to Undergo Surgery That is Likely to be Followed by Radiotherapy and/or Chemotherapy. Completed NCT03022409 Phase 1 Ceralasertib;Olaparib
13 A Phase 1 Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Antitumor Activity of Ascending Doses of Combined Therapy With ATR Inhibitor AZD6738 and Gemcitabine, Using a Model Based Design. Recruiting NCT03669601 Phase 1 AZD6738;Gemcitabine
14 Descriptive Immunogenicity of 2 Doses of Pneumococcal 7-valent Conjugate Vaccine (Prevenar®, Wyeth Lederle) Followed by Pneumococcal Polysaccharide Vaccine (Pneumovax® Aventis Pasteur MSD) in Ataxia-telangiectasia Patients Unknown status NCT01075438
15 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of Patients With Ataxia Telangiectasia Unknown status NCT02285348
16 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia With and Without Substitution of Immunoglobulin G: a Prospective Observational Study Unknown status NCT03357978
17 The Validity of Forced Expiratory Maneuvers in Ataxia Teleangiectasia Studied Longitudinally Unknown status NCT00951886
18 Susceptibility to Infections in Patients With Ataxia Telangiectasia : A Prospective Follow-up Study Completed NCT02345135
19 Pilot Study I for Treatment of Cancer in Children With Ataxia-Telangiectasia Completed NCT00187057 vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
20 Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls Completed NCT02345200
21 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
22 APPLICABILITY OF THE INTERNATIONAL ATAXIA RATING SCALE (ICARS) IN YOUNGER PATIENTS AND DEVELOPMENT OF GLOBAL RATING INSTRUMENTS FOR PATIENTS WITH ATAXIA TELANGIECTASIA (AT) Completed NCT01942850
23 Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia- A Retrospective Study Recruiting NCT04037189
24 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
25 Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia Enrolling by invitation NCT04605523
26 Identification of the Predisposing Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Terminated NCT02857894
27 Induced Pluripotent Stem (iPS) Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Terminated NCT02246491
28 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Withdrawn NCT02309632

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


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

Cochrane evidence based reviews: ataxia telangiectasia

Sources

Genetic Tests for Ataxia-Telangiectasia

About this section

Genetic tests related to Ataxia-Telangiectasia:

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

Anatomical Context for Ataxia-Telangiectasia

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MalaCards organs/tissues related to Ataxia-Telangiectasia:

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

Publications for Ataxia-Telangiectasia

About this section

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 6733)
# Title Authors PMID Year
1
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 6 61 25 57
22345219 2012
2
Clinical spectrum of ataxia-telangiectasia in adulthood. 57 6 61 25
19535770 2009
3
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. 25 61 6 57
16832357 2006
4
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. 6 25 57 61
16864838 2006
5
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. 61 6 25 57
11826028 2002
6
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. 57 25 61 6
9682216 1998
7
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 61 57 6 25
9497252 1998
8
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 57 6 25 61
9463314 1998
9
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. 6 25 57 61
9259193 1997
10
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 25 61 6 57
2491181 1989
11
ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. 61 54 57 6
10677309 2000
12
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. 61 54 6 57
9600235 1998
13
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 54 61 57 6
9443866 1998
14
Heterozygous ATM mutations do not contribute to early onset of breast cancer. 54 61 57 6
9054948 1997
15
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. 61 6 57
30549301 2019
16
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 61 6 57
16266405 2005
17
Comprehensive scanning of the ATM gene with DOVAM-S. 61 6 57
12552559 2003
18
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. 61 6 57
12497634 2003
19
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. 6 25 54 61
12195425 2002
20
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 61 25 6 54
11382771 2001
21
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 57 6 61
10980530 2000
22
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 61 6 57
10425038 1999
23
Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 6 57 61
9887333 1999
24
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 6 61 57
9711876 1998
25
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 6 57 61
7792600 1995
26
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations. 61 57 6
6504056 1984
27
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. 6 25 61
26662178 2016
28
Ataxia-telangiectasia with female fertility. 25 61 6
25914063 2015
29
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. 25 6 61
25077176 2014
30
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. 6 25 61
23946315 2013
31
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. 25 61 6
23774824 2013
32
Newborn screening for SCID identifies patients with ataxia telangiectasia. 61 6 25
23264026 2013
33
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 25 6 61
22213089 2012
34
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. 6 25 61
22146522 2012
35
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 25 61 6
19781682 2009
36
Ataxia-telangiectasia: without ataxia or telangiectasia? 61 25 6
19605768 2009
37
Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 6 61 25
19431188 2009
38
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 25 61 6
18634022 2009
39
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. 6 61 25
17166884 2007
40
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. 61 25 6
16958054 2006
41
Molecular pathology of ataxia telangiectasia. 25 61 6
16189143 2005
42
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. 6 61 25
15174027 2004
43
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. 25 6 61
15054841 2004
44
Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement. 25 6 61
12511424 2003
45
Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. 6 25 61
12072877 2002
46
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 6 61 25
11805335 2002
47
Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia. 61 25 6
11391347 2001
48
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 61 57 25
10612394 1999
49
Mutations associated with variant phenotypes in ataxia-telangiectasia. 6 61 25
8755918 1996
50
Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 57 61 25
1377828 1992
Sources

Variations for Ataxia-Telangiectasia

About this section

ClinVar genetic disease variations for Ataxia-Telangiectasia:

6 (show top 50) (show all 6389)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATM , C11orf65 NM_000051.4(ATM):c.7630-2A>C SNV Pathogenic 127447 rs587779866 GRCh37: 11:108202604-108202604
GRCh38: 11:108331877-108331877
2 ATM NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) SNV Pathogenic 236716 rs730881369 GRCh37: 11:108160488-108160488
GRCh38: 11:108289761-108289761
3 ATM , C11orf65 NM_000051.3(ATM):c.7517_7520delGAGA Microsatellite Pathogenic 141647 rs587781905 GRCh37: 11:108202169-108202172
GRCh38: 11:108331442-108331445
4 ATM NM_000051.3(ATM):c.1898+2T>G SNV Pathogenic 141939 rs587782124 GRCh37: 11:108123641-108123641
GRCh38: 11:108252914-108252914
5 ATM NM_000051.3(ATM):c.4110-1G>A SNV Pathogenic 407707 rs1060501692 GRCh37: 11:108159703-108159703
GRCh38: 11:108288976-108288976
6 ATM NM_000051.3(ATM):c.3218dup (p.Phe1074fs) Duplication Pathogenic 233935 rs876660741 GRCh37: 11:108143512-108143513
GRCh38: 11:108272785-108272786
7 ATM NM_000051.3(ATM):c.1514_1515del (p.Phe505fs) Deletion Pathogenic 407455 rs1060501529 GRCh37: 11:108121705-108121706
GRCh38: 11:108250978-108250979
8 ATM , C11orf65 NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter) SNV Pathogenic 407464 rs1060501536 GRCh37: 11:108196122-108196122
GRCh38: 11:108325395-108325395
9 ATM , C11orf65 NM_000051.4(ATM):c.7630-2A>C SNV Pathogenic 127447 rs587779866 GRCh37: 11:108202604-108202604
GRCh38: 11:108331877-108331877
10 ATM NM_000051.3(ATM):c.790del (p.Tyr264fs) Deletion Pathogenic 141742 rs587781978 GRCh37: 11:108115640-108115640
GRCh38: 11:108244913-108244913
11 ATM NM_000051.3(ATM):c.67C>T (p.Arg23Ter) SNV Pathogenic 232248 rs746235533 GRCh37: 11:108098418-108098418
GRCh38: 11:108227691-108227691
12 ATM , C11orf65 NM_000051.3(ATM):c.8835_8836del (p.Leu2946fs) Deletion Pathogenic 185902 rs786202547 GRCh37: 11:108225585-108225586
GRCh38: 11:108354858-108354859
13 ATM NM_000051.3(ATM):c.484C>T (p.Gln162Ter) SNV Pathogenic 565865 rs1565357383 GRCh37: 11:108106549-108106549
GRCh38: 11:108235822-108235822
14 ATM NM_001351834.2(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) Deletion Pathogenic 420011 rs1064794236 GRCh37: 11:108164058-108164061
GRCh38: 11:108293331-108293334
15 ATM NM_001351834.2(ATM):c.446_449TTCT[1] (p.Leu150_Ser151insTer) Microsatellite Pathogenic 490572 rs771936821 GRCh37: 11:108106511-108106514
GRCh38: 11:108235784-108235787
16 ATM , C11orf65 NM_000051.3(ATM):c.5931del (p.Phe1977fs) Deletion Pathogenic 583331 rs1565493368 GRCh37: 11:108183148-108183148
GRCh38: 11:108312421-108312421
17 ATM NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) SNV Pathogenic 236716 rs730881369 GRCh37: 11:108160488-108160488
GRCh38: 11:108289761-108289761
18 ATM , C11orf65 NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) SNV Pathogenic 181974 rs139770721 GRCh37: 11:108186638-108186638
GRCh38: 11:108315911-108315911
19 ATM NM_000051.3(ATM):c.3285-2A>G SNV Pathogenic 638928 rs1591631876 GRCh37: 11:108150216-108150216
GRCh38: 11:108279489-108279489
20 ATM NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) SNV Pathogenic 265570 rs886039633 GRCh37: 11:108138014-108138014
GRCh38: 11:108267287-108267287
21 ATM NM_000051.3(ATM):c.689del (p.Asn230fs) Deletion Pathogenic 374194 rs1057518965 GRCh37: 11:108115539-108115539
GRCh38: 11:108244812-108244812
22 ATM , C11orf65 NM_000051.3(ATM):c.8786+1G>A SNV Pathogenic 127463 rs17174393 GRCh37: 11:108224608-108224608
GRCh38: 11:108353881-108353881
23 ATM NM_000051.3(ATM):c.5554dup (p.Gln1852fs) Duplication Pathogenic 490614 rs1555107356 GRCh37: 11:108175457-108175458
GRCh38: 11:108304730-108304731
24 ATM , C11orf65 NM_001330368.2(C11orf65):c.641-16321_641-16314del Deletion Pathogenic 219963 rs864622326 GRCh37: 11:108196112-108196119
GRCh38: 11:108325385-108325392
25 ATM NM_000051.3(ATM):c.3894dup (p.Ala1299fs) Duplication Pathogenic 141534 rs587781823 GRCh37: 11:108155097-108155098
GRCh38: 11:108284370-108284371
26 ATM NM_000051.3(ATM):c.5653dup (p.Thr1885fs) Duplication Pathogenic 418036 rs587778077 GRCh37: 11:108175556-108175557
GRCh38: 11:108304829-108304830
27 ATM , C11orf65 NM_000051.4(ATM):c.6198+1G>A SNV Pathogenic 221911 rs778031266 GRCh37: 11:108186841-108186841
GRCh38: 11:108316114-108316114
28 ATM NM_000051.4(ATM):c.4776+2T>C SNV Pathogenic 141672 rs587781927 GRCh37: 11:108164206-108164206
GRCh38: 11:108293479-108293479
29 ATM , C11orf65 NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) SNV Pathogenic 127445 rs587779865 GRCh37: 11:108201089-108201089
GRCh38: 11:108330362-108330362
30 ATM NM_000051.4(ATM):c.748C>T (p.Arg250Ter) SNV Pathogenic 216024 rs772821016 GRCh37: 11:108115600-108115600
GRCh38: 11:108244873-108244873
31 ATM , C11orf65 NM_001351834.2(ATM):c.5763-1050A>G SNV Pathogenic 3021 rs774925473 GRCh37: 11:108179837-108179837
GRCh38: 11:108309110-108309110
32 ATM NM_000051.4(ATM):c.103C>T (p.Arg35Ter) SNV Pathogenic 3025 rs55861249 GRCh37: 11:108098533-108098533
GRCh38: 11:108227806-108227806
33 ATM , C11orf65 NM_000051.4(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) Microsatellite Pathogenic 230200 rs1450394308 GRCh37: 11:108203578-108203582
GRCh38: 11:108332851-108332855
34 ATM NM_000051.4(ATM):c.3576G>A (p.Lys1192=) SNV Pathogenic 3035 rs587776551 GRCh37: 11:108151895-108151895
GRCh38: 11:108281168-108281168
35 ATM NM_000051.3(ATM):c.2250G>A (p.Lys750=) SNV Pathogenic 3044 rs1137887 GRCh37: 11:108127067-108127067
GRCh38: 11:108256340-108256340
36 ATM NM_000051.3(ATM):c.496+5G>A SNV Pathogenic 3047 rs796051858 GRCh37: 11:108106566-108106566
GRCh38: 11:108235839-108235839
37 ATM , C11orf65 NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) SNV Pathogenic 39749 rs397514577 GRCh37: 11:108188101-108188101
GRCh38: 11:108317374-108317374
38 ATM NM_001351834.2(ATM):c.1562_1563GA[1] (p.Glu522fs) Microsatellite Pathogenic 127340 rs587779817 GRCh37: 11:108121753-108121754
GRCh38: 11:108251026-108251027
39 ATM NM_001351834.2(ATM):c.2718_2719GT[1] (p.Leu906_Cys907insTer) Microsatellite Pathogenic 186103 rs786202695 GRCh37: 11:108139215-108139218
GRCh38: 11:108268488-108268491
40 ATM , C11orf65 NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) SNV Pathogenic 181981 rs564652222 GRCh37: 11:108196143-108196143
GRCh38: 11:108325416-108325416
41 ATM NM_000051.3(ATM):c.170G>A (p.Trp57Ter) SNV Pathogenic 127341 rs587779818 GRCh37: 11:108098600-108098600
GRCh38: 11:108227873-108227873
42 ATM NM_001351834.2(ATM):c.3802del (p.Glu1267_Val1268insTer) Deletion Pathogenic 127374 rs587779834 GRCh37: 11:108155008-108155008
GRCh38: 11:108284281-108284281
43 ATM NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) SNV Pathogenic 216021 rs780619951 GRCh37: 11:108129749-108129749
GRCh38: 11:108259022-108259022
44 ATM , C11orf65 NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) SNV Pathogenic 141404 rs587781722 GRCh37: 11:108181032-108181032
GRCh38: 11:108310305-108310305
45 ATM , C11orf65 NM_000051.3(ATM):c.8418+5_8418+8del Microsatellite Pathogenic 181866 rs730881295 GRCh37: 11:108214099-108214102
GRCh38: 11:108343372-108343375
46 ATM , C11orf65 NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) SNV Pathogenic 127414 rs587779852 GRCh37: 11:108183151-108183151
GRCh38: 11:108312424-108312424
47 ATM NM_000051.3(ATM):c.901+1G>A SNV Pathogenic 186761 rs748840480 GRCh37: 11:108115754-108115754
GRCh38: 11:108245027-108245027
48 ATM , C11orf65 NM_001330368.2(C11orf65):c.641-8330del Deletion Pathogenic 186516 rs786203008 GRCh37: 11:108188128-108188128
GRCh38: 11:108317401-108317401
49 ATM NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) SNV Pathogenic 219999 rs749036865 GRCh37: 11:108121561-108121561
GRCh38: 11:108250834-108250834
50 ATM NM_000051.3(ATM):c.3154-2A>G SNV Pathogenic 181940 rs730881357 GRCh37: 11:108143447-108143447
GRCh38: 11:108272720-108272720

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

72 (show all 44)
# Symbol AA change Variation ID SNP ID
1 ATM p.Pro292Leu VAR_010802 rs747727055
2 ATM p.Ile323Val VAR_010803 rs587781511
3 ATM p.Phe570Ser VAR_010808 rs777301065
4 ATM p.Asn768Asp VAR_010812
5 ATM p.Arg785Cys VAR_010813 rs587778065
6 ATM p.Leu950Arg VAR_010815 rs786203054
7 ATM p.Leu1001Gln VAR_010816
8 ATM p.His1082Leu VAR_010819
9 ATM p.Glu1091Asp VAR_010820
10 ATM p.Leu1420Pro VAR_010823
11 ATM p.Leu1465Pro VAR_010826 rs730881391
12 ATM p.Pro1566Arg VAR_010827
13 ATM p.Thr1743Ile VAR_010831 rs587779844
14 ATM p.Val1913Gly VAR_010836 rs106050168
15 ATM p.Asp2016Gly VAR_010838 rs587781302
16 ATM p.Gly2063Glu VAR_010839 rs866290641
17 ATM p.Ala2067Asp VAR_010840 rs397514577
18 ATM p.Ser2218Cys VAR_010844
19 ATM p.Arg2227Cys VAR_010846 rs564652222
20 ATM p.Val2424Gly VAR_010854 rs28904921
21 ATM p.Tyr2470Asp VAR_010858 rs876659365
22 ATM p.Trp2491Arg VAR_010860
23 ATM p.His2554Asp VAR_010862
24 ATM p.Asp2625Gln VAR_010863
25 ATM p.Leu2656Pro VAR_010865 rs121434218
26 ATM p.Ile2702Arg VAR_010870 rs876659735
27 ATM p.Ala2726Val VAR_010874
28 ATM p.Cys2824Tyr VAR_010878 rs876660927
29 ATM p.Phe2827Cys VAR_010879 rs121434216
30 ATM p.Pro2829Leu VAR_010880 rs938431501
31 ATM p.Arg2832Cys VAR_010881 rs587779872
32 ATM p.Arg2849Pro VAR_010882 rs587782202
33 ATM p.Ser2855Arg VAR_010883 rs780905851
34 ATM p.Gly2867Arg VAR_010886
35 ATM p.Glu2904Gly VAR_010889 rs786202826
36 ATM p.Arg2909Gly VAR_010890
37 ATM p.Arg3008Cys VAR_010893 rs587782292
38 ATM p.Leu1046Pro VAR_077237 rs568461905
39 ATM p.Gly2023Arg VAR_077238 rs11212587
40 ATM p.Leu2068Ser VAR_077239 rs155511455
41 ATM p.Tyr2080Asp VAR_077240 rs106479546
42 ATM p.Tyr2627His VAR_077241
43 ATM p.Phe2834Leu VAR_077242
44 ATM p.Asn3003Asp VAR_077243 rs1137889

Sources

Expression for Ataxia-Telangiectasia

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

Pathways for Ataxia-Telangiectasia

About this section

Pathways related to Ataxia-Telangiectasia according to KEGG:

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

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

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 65
Show member pathways
 13.9 TP53 RPA2 RPA1 RAD50 PCNA NBN
2
Cell Cycle, Mitotic 65
Show member pathways
 13.56 TP53BP1 TP53 RPA2 RPA1 RAD50 PCNA
3
Cellular Senescence (REACTOME) 65
Show member pathways
 13.26 TP53 RPA2 RPA1 RAD50 NBN MRE11
4
Regulation of TP53 Activity 65
Show member pathways
 13.13 TP53 RPA2 RPA1 RAD50 PCNA NBN
5
TCR Signaling (Qiagen) 63
Show member pathways
 13.1 TP53BP1 TP53 RAD50 PCNA NBN MRE11
6
Chks in Checkpoint Regulation 63
Show member pathways
 12.88 TP53 RPA2 RAD50 PRKDC PCNA NBN
7
DNA Double-Strand Break Repair 65
Show member pathways
 12.83 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
8
Meiosis 65
Show member pathways
 12.72 RPA2 RPA1 RAD50 NBN MRE11 H2AX
9
SUMOylation 65
Show member pathways
 12.62 TP53BP1 TP53 RPA1 PCNA BRCA1
10
Mitotic G1-G1/S phases 65
Show member pathways
 12.6 TP53 RPA2 RPA1 PCNA ATM
11
DNA Double Strand Break Response 65
Show member pathways
 12.58 TP53BP1 TP53 RAD50 PRKDC NBN MRE11
12
Cell cycle 36 1
12.54 TP53 PRKDC PCNA CHEK2 CHEK1 ATR
13
Cell Cycle Checkpoints 65
Show member pathways
 12.54 TP53BP1 TP53 RPA2 RPA1 RAD50 NBN
14
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 12.51 RPA2 RPA1 RAD50 PCNA NBN MRE11
15
Apoptosis Pathway 69
Show member pathways
 12.5 TP53 CHEK2 CHEK1 ATR ATM
16
DNA Damage/Telomere Stress Induced Senescence 65
Show member pathways
 12.49 TP53 RAD50 NBN MRE11 H2AX ATM
17
E2F mediated regulation of DNA replication 65
Show member pathways
 12.44 RPA2 RPA1 PCNA CHEK1 ATR
18
p53 Signaling 63
Show member pathways
 12.44 TP53 PRKDC CHEK2 CHEK1 BRCA1 ATR
19
Human T-cell leukemia virus 1 infection 36
12.41 TP53 CHEK2 CHEK1 ATR ATM
20
DNA Damage Response 1
Show member pathways
 12.41 TP53 RPA2 RAD50 PRKDC NBN MRE11
21
Cellular senescence (KEGG) 36
12.37 TP53 RAD50 NBN MRE11 CHEK2 CHEK1
22
Integrated Breast Cancer Pathway 1
12.36 TP53 RAD50 MRE11 CHEK2 CHEK1 BRCA1
23
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 12.34 RPA2 RPA1 RAD50 NBN MRE11 BRCA1
24
Cellular response to heat stress 65
Show member pathways
 12.23 RPA2 RPA1 ATR ATM
25
Retinoblastoma (RB) in Cancer 1
12.08 TP53 RPA2 RPA1 PRKDC PCNA NPAT
26
DNA Damage 4
12.02 TRIM29 TP53BP1 TP53 RPA2 RPA1 RAD50
27
BRCA1 Pathway 63
Show member pathways
 12.01 TP53 RAD50 NBN MRE11 CHEK2 CHEK1
28
ATM Pathway 63
Show member pathways
 11.96 TP53BP1 TP53 RAD50 NBN MRE11 H2AX
29
Fanconi anemia pathway 65 36
11.94 RPA2 RPA1 BRCA1 ATR
30
Pathways Affected in Adenoid Cystic Carcinoma 1
11.9 TP53 PRKDC CHEK2 CHEK1 BRCA1 ATM
31
Mismatch repair 1 36 65
Show member pathways
 11.86 RPA2 RPA1 PCNA
32
p53 pathway 1
11.82 TP53 CHEK2 CHEK1 ATR ATM
33
Regulation of Telomerase 1
11.79 RAD50 NBN MRE11 ATM
34
Regulation of TP53 Expression and Degradation 65
Show member pathways
 11.74 TP53 CHEK2 ATM
35
Integrated Cancer Pathway 1
11.74 TP53 RAD50 MRE11 CHEK2 CHEK1 BRCA1
36
Platinum drug resistance 36
11.73 TP53 BRCA1 ATM
37
ATM Signaling Network in Development and Disease 1
11.73 TP53BP1 RAD50 PRKDC NBN MRE11 H2AX
38
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
11.7 TP53 PCNA NBN CHEK2 CHEK1 BRCA1
39
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 23
Show member pathways
 11.68 TP53 CHEK2 CHEK1 ATR ATM
40
miRNAs involved in DNA damage response 1
11.57 TP53 H2AX ATM
41
GADD45 Pathway 63
11.53 TP53 PCNA BRCA1 ATR ATM
42
BARD1 signaling events 1
11.52 TP53 RAD50 PRKDC PCNA NBN MRE11
43
DNA damage_NHEJ mechanisms of DSBs repair 23
11.39 RAD50 PRKDC NBN MRE11 BRCA1
44
Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics 60
11.39 PRKDC H2AX CHEK2 CHEK1 ATR ATM
45
DNA Damage Induced 14-3-3Sigma Signaling 63
11.23 TP53 BRCA1 ATR ATM
46
Telomere Extension by Telomerase 63
Show member pathways
 11.2 RAD50 NBN MRE11
47
DDX1 as a regulatory component of the Drosha microprocessor 1
Show member pathways
 11.15 RAD50 NBN MRE11 ATM
48
Circadian rhythm pathway 1
10.85 CHEK1 ATR
49
PLK3 signaling events 1
10.39 TP53 CHEK2
Sources

GO Terms for Ataxia-Telangiectasia

About this section

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.39 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
2 nucleoplasm GO:0005654 10.25 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
3 chromatin GO:0000785 10.05 TP53 RPA2 RAD50 PCNA H2AX CHEK1
4 chromosome GO:0005694 9.97 TP53BP1 RAD50 NBN MRE11 H2AX CHEK1
5 nuclear body GO:0016604 9.88 TP53BP1 TP53 RPA2 PCNA BRCA1
6 PML body GO:0016605 9.8 TP53 RPA2 RPA1 NBN MRE11 CHEK2
7 condensed nuclear chromosome GO:0000794 9.71 RAD50 H2AX CHEK1 BRCA1
8 site of double-strand break GO:0035861 9.7 TP53BP1 TP53 RPA2 RAD50 NBN MRE11
9 Mre11 complex GO:0030870 9.61 RAD50 NBN MRE11
10 DNA replication factor A complex GO:0005662 9.52 RPA2 RPA1
11 replication fork GO:0005657 9.5 TP53BP1 TP53 PCNA NBN MRE11 H2AX
12 DNA repair complex GO:1990391 9.49 TP53BP1 ATM
13 chromosome, telomeric region GO:0000781 9.44 TP53BP1 RPA2 RPA1 RAD50 PRKDC PCNA

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10.19 TP53 RAD50 NPAT NBN H2AX CHEK2
2 viral process GO:0016032 10.17 TP53 RAD50 PCNA NBN MRE11 H2AX
3 protein phosphorylation GO:0006468 10.14 PRKDC CHEK2 CHEK1 ATR ATM
4 double-strand break repair via homologous recombination GO:0000724 10.06 RPA2 RPA1 RAD50 NBN MRE11 H2AX
5 DNA recombination GO:0006310 10.04 RPA2 RPA1 RAD50 PRKDC MRE11 H2AX
6 heart development GO:0007507 10.03 TP53 PRKDC PCNA ATM
7 double-strand break repair GO:0006302 10.02 TP53 RAD50 PRKDC NBN MRE11 H2AX
8 peptidyl-serine phosphorylation GO:0018105 10.01 PRKDC CHEK2 ATR ATM
9 double-strand break repair via nonhomologous end joining GO:0006303 10.01 TP53BP1 RAD50 PRKDC NBN MRE11 H2AX
10 DNA damage checkpoint GO:0000077 9.98 TP53BP1 NBN H2AX CHEK2 CHEK1 ATR
11 meiotic cell cycle GO:0051321 9.97 RPA1 RAD50 NBN MRE11 H2AX
12 telomere maintenance GO:0000723 9.97 RPA2 RPA1 RAD50 PRKDC PCNA NBN
13 DNA replication GO:0006260 9.96 RPA2 RPA1 RAD50 PCNA NBN MRE11
14 regulation of cellular response to heat GO:1900034 9.92 RPA2 RPA1 ATR ATM
15 cellular response to gamma radiation GO:0071480 9.92 TP53 H2AX CHEK2 ATR ATM
16 DNA duplex unwinding GO:0032508 9.91 RAD50 NBN MRE11
17 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.91 TP53 PCNA CHEK2 ATM
18 replicative senescence GO:0090399 9.91 TP53 CHEK2 CHEK1 ATR ATM
19 positive regulation of kinase activity GO:0033674 9.9 RAD50 NBN MRE11
20 transcription-coupled nucleotide-excision repair GO:0006283 9.9 RPA2 RPA1 PCNA
21 regulation of signal transduction by p53 class mediator GO:1901796 9.9 TP53 RPA2 RPA1 RAD50 NBN MRE11
22 cellular response to UV GO:0034644 9.89 TP53 PCNA ATR
23 response to ionizing radiation GO:0010212 9.89 PRKDC H2AX BRCA1 ATM
24 interstrand cross-link repair GO:0036297 9.88 RPA2 RPA1 ATR
25 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.88 PRKDC CHEK2 BRCA1 ATM
26 DNA double-strand break processing GO:0000729 9.88 RAD50 NBN MRE11 BRCA1 ATM
27 somitogenesis GO:0001756 9.87 TP53 PRKDC ATM
28 nucleotide-excision repair GO:0006289 9.87 TP53 RPA2 RPA1
29 DNA damage response, detection of DNA damage GO:0042769 9.87 RPA2 RPA1 PCNA
30 nucleotide-excision repair, DNA incision GO:0033683 9.86 RPA2 RPA1 PCNA
31 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.86 RPA2 RPA1 PCNA
32 translesion synthesis GO:0019985 9.86 RPA2 RPA1 PCNA
33 reciprocal meiotic recombination GO:0007131 9.85 RAD50 MRE11 ATM
34 positive regulation of DNA repair GO:0045739 9.85 PCNA H2AX BRCA1
35 mismatch repair GO:0006298 9.85 RPA2 RPA1 PCNA
36 telomere capping GO:0016233 9.85 RAD50 PRKDC NBN
37 response to gamma radiation GO:0010332 9.84 TP53 PRKDC CHEK2
38 DNA repair GO:0006281 9.83 TP53BP1 RPA2 RPA1 RAD50 PRKDC PCNA
39 telomere maintenance via semi-conservative replication GO:0032201 9.82 RPA2 RPA1 PCNA
40 positive regulation of protein autophosphorylation GO:0031954 9.82 RAD50 NBN MRE11
41 nucleotide-excision repair, DNA gap filling GO:0006297 9.81 RPA2 RPA1 PCNA
42 error-free translesion synthesis GO:0070987 9.81 RPA2 RPA1 PCNA
43 error-prone translesion synthesis GO:0042276 9.8 RPA2 RPA1 PCNA
44 telomere maintenance via telomerase GO:0007004 9.8 RPA1 RAD50 MRE11
45 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.79 TP53 CHEK2 BRCA1
46 positive regulation of telomere maintenance GO:0032206 9.77 RAD50 NBN MRE11
47 DNA damage induced protein phosphorylation GO:0006975 9.75 CHEK2 CHEK1 ATM
48 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.74 TP53 NBN
49 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.73 ATR ATM
50 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.73 CHEK1 BRCA1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.51 TRIM29 TP53BP1 TP53 RPA2 RPA1 RAD50
2 ATP binding GO:0005524 10.1 TP53 RAD50 PRKDC CHEK2 CHEK1 ATR
3 identical protein binding GO:0042802 10.06 TRIM29 TP53 RAD50 PCNA MRE11 CHEK2
4 protein kinase activity GO:0004672 9.92 PRKDC CHEK2 CHEK1 ATR ATM
5 ubiquitin protein ligase binding GO:0031625 9.85 TP53 RPA2 CHEK2 BRCA1
6 protein serine/threonine kinase activity GO:0004674 9.8 PRKDC CHEK2 CHEK1 ATR ATM
7 DNA binding GO:0003677 9.77 TP53BP1 TP53 RPA2 RPA1 RAD50 PRKDC
8 single-stranded DNA binding GO:0003697 9.74 RPA2 RPA1 APTX
9 enzyme binding GO:0019899 9.73 TP53 RPA2 PRKDC PCNA H2AX BRCA1
10 p53 binding GO:0002039 9.65 TRIM29 TP53BP1 TP53
11 protein N-terminus binding GO:0047485 9.55 TP53 RPA2 NBN ATM APTX
12 G-rich strand telomeric DNA binding GO:0098505 9.51 RPA2 RPA1
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.49 RAD50 MRE11
14 MutLalpha complex binding GO:0032405 9.43 PCNA ATR
15 single-stranded telomeric DNA binding GO:0043047 9.37 RPA1 RAD50
16 DNA-dependent protein kinase activity GO:0004677 9.32 PRKDC ATM
17 damaged DNA binding GO:0003684 9.23 TP53BP1 RPA2 RPA1 PCNA NBN H2AX
Sources

Sources for Ataxia-Telangiectasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19