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AT
MCID: ATX030
MIFTS: 81

Ataxia-Telangiectasia (AT)

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

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MalaCards integrated aliases for Ataxia-Telangiectasia:

IMPROVED
Name: Ataxia-Telangiectasia 57 24 42 58 73 12 36 38 75
Ataxia Telangiectasia 11 19 52 75 73 53 41 43 14 71
Louis-Bar Syndrome 57 19 42 58 75 73
at 57 19 73
Ataxia - Telangiectasia Variant 28 5
Ataxia-Telangiectasia Syndrome 28 5
At1 57 73
Immunodeficiency with Ataxia Telangiectasia 19
Telangiectasia, Cerebello-Oculocutaneous 42
Cerebello-Oculocutaneous Telangiectasia 19
Ataxia Telangiectasia Syndrome 42
Ataxia-Telangiectasia Variant 71
Boder-Sedgwick Syndrome 11
Louis Bar Syndrome 11
a-T 42
Atm 42

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-5/10000 (Norway) 1-9/1000000 (Norway, Europe, Portugal, France) 1-9/100000 (United States, Italy) 58

Age Of Onset:

Childhood,Infancy 58

Age Of Death:

adult 58

OMIM®:

57 (Updated 24-Oct-2022)
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


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 Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32
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

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MedlinePlus Genetics: 42 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. Ataxia-telangiectasia has no cure, though treatments might improve some symptoms. These treatments include physical and speech therapy and improving deficits in the immune system and nutrition. 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 telangiectasis and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, and has symptoms including back pain, cerebellar ataxia and headache. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Gene expression (Transcription) and Disease. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related phenotypes are nystagmus and ataxia

NINDS: 52 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.

MedlinePlus: 41 Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include: Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, red spider veins, called telangiectasias, on the skin and eyes Lung infections Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke

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 24-Oct-2022)

GARD: 19 Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. 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 in the ATM gene and is inherited in an autosomal recessive manner.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.

Disease Ontology: 11 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.

Wikipedia: 75 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

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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 1067)
# Related Disease Score Top Affiliating Genes
1 telangiectasis 33.0 TP53 NBN CHEK2 ATM
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.0 NBN MRE11 ATM APTX
3 nijmegen breakage syndrome 32.8 TP53BP1 TP53 RPA1 PRKDC NBN MRE11
4 cornelia de lange syndrome 32.0 NBN MRE11 H2AX BRCA1 ATR ATM
5 hypertrophy of breast 31.9 TP53 CHEK2 BRCA1 ATM
6 lynch syndrome i 31.9 CHEK2 BRCA1 ATM
7 diamond-blackfan anemia 11 31.9 TP53 NBN CHEK2 ATM
8 synchronous bilateral breast carcinoma 31.9 TP53 BRCA1 ATM
9 endometrial serous adenocarcinoma 31.9 TP53 BRCA1 ATM
10 mismatch repair cancer syndrome 31.8 TP53 BRCA1 ATM
11 bone osteosarcoma 31.8 TP53BP1 TP53 CHEK2 ATM
12 trichothiodystrophy 31.8 TP53 RPA1 PRKDC ATM
13 maxillary sinus adenocarcinoma 31.8 TP53 ATM
14 inherited cancer-predisposing syndrome 31.7 TP53 NBN MRE11 CHEK2 C11orf65 BRCA1
15 bap1 tumor predisposition syndrome 31.7 TP53 NBN MRE11 CHEK2 C11orf65 BRCA1
16 congenital nervous system abnormality 31.6 TP53BP1 TP53 PRKDC NBN CHEK2 CHEK1
17 lynch syndrome 31.5 TP53 MRE11 CHEK2 CHEK1 BRCA1 BRAF
18 melanoma, cutaneous malignant 1 31.5 TP53 CHEK2 BRCA1 BRAF ATM
19 bloom syndrome 31.4 TP53 RPA2 RPA1 BRCA1 ATM
20 gliosarcoma 31.3 TP53 C11orf65 BRAF ATM
21 fanconi anemia, complementation group a 31.3 TP53BP1 TP53 RPA2 RPA1 PRKDC NBN
22 microcephaly 31.3 TP53 PRKDC NBN MRE11 CHEK1 BRCA1
23 xeroderma pigmentosum, variant type 31.3 TP53BP1 TP53 RPA2 RPA1 PRKDC NBN
24 renal cell carcinoma, papillary, 1 31.2 TP53 C11orf65 BRAF ATM
25 t-cell prolymphocytic leukemia 31.2 TP53 C11orf65 ATM
26 lymphoma 31.2 TP53 H2AX CHEK2 BRAF ATM
27 giant cell glioblastoma 31.1 TP53 C11orf65 BRAF ATM
28 cerebellar disease 31.1 TP53BP1 TP53 PRKDC NBN H2AX CHEK2
29 xeroderma pigmentosum, complementation group a 31.1 RPA2 RPA1 ATM
30 werner syndrome 30.9 TP53 RPA1 PRKDC NBN MRE11 BRCA1
31 li-fraumeni syndrome 30.9 TP53 MRE11 CHEK2 CHEK1 BRCA1 ATM
32 sporadic breast cancer 30.8 TP53 CHEK2 BRCA1 ATM
33 hereditary breast cancer 30.8 CHEK2 BRCA1
34 hereditary ataxia 30.8 TP53BP1 TP53 PRKDC NBN CHEK2 CHEK1
35 breast cancer 30.8 TP53BP1 TP53 PRKDC NBN MRE11 H2AX
36 leiomyosarcoma 30.7 TP53 CHEK2 BRCA1
37 bilateral breast cancer 30.7 TP53 CHEK2 BRCA1 ATM
38 diffuse gastric cancer 30.7 TP53 CHEK2 BRCA1 ATM
39 fanconi anemia, complementation group d2 30.6 CHEK1 BRCA1 ATM
40 aplastic anemia 30.5 TP53BP1 TP53 PRKDC NBN H2AX CHEK2
41 diffuse gastric and lobular breast cancer syndrome 30.5 TP53 CHEK2 BRCA1 ATM
42 breast-ovarian cancer, familial 1 30.5 NBN BRCA1
43 adenoid cystic carcinoma 30.4 TP53 PRKDC CHEK2 BRCA1 ATM
44 cowden syndrome 30.4 TP53 CHEK2 BRCA1 ATM
45 riddle syndrome 30.4 TP53BP1 H2AX BRCA1
46 cowden syndrome 1 30.4 TP53 CHEK2 BRCA1 ATM
47 autosomal recessive cerebellar ataxia 30.4 TP53BP1 TP53 PRKDC NBN MRE11 H2AX
48 premature menopause 30.4 TP53 NBN CHEK2 BRCA1 ATM
49 lymphoma, non-hodgkin, familial 30.4 TP53 NBN FAS-AS1 BRAF ATM
50 lig4 syndrome 30.3 TP53BP1 PRKDC NBN ATRIP ATM APTX

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 30 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0000639
2 ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001251
3 gait disturbance 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001288
4 tremor 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001337
5 recurrent respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002205
6 delayed puberty 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000823
7 strabismus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000486
8 elevated hepatic transaminase 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002910
9 mucosal telangiectasiae 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100579
10 telangiectasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100585
11 polycystic ovaries 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000147
12 lymphopenia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001888
13 premature graying of hair 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002216
14 abnormality of chromosome stability 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003220
15 cellular immunodeficiency 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005374
16 aplasia/hypoplasia of the thymus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010515
17 decreased circulating antibody level 30 Hallmark (90%) HP:0004313
18 spasticity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001257
19 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001260
20 short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004322
21 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003202
22 neoplasm 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002664
23 hypopigmentation of hair 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005599
24 seizure 30 Very rare (1%) HP:0001250
25 failure to thrive 58 30 Very rare (1%) Occasional (29-5%)
 HP:0001508
26 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005978
27 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100543
28 abnormal testis morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000035
29 multiple cafe-au-lait spots 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007565
30 aplasia/hypoplasia of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008065
31 delayed speech and language development 30 Very rare (1%) HP:0000750
32 microcephaly 30 Very rare (1%) HP:0000252
33 slurred speech 30 Very rare (1%) HP:0001350
34 conjunctival telangiectasia 30 Very rare (1%) HP:0000524
35 dysdiadochokinesis 30 Very rare (1%) HP:0002075
36 chronic diarrhea 30 Very rare (1%) HP:0002028
37 elevated alpha-fetoprotein 30 Very rare (1%) HP:0006254
38 acute lymphoblastic leukemia 30 Very rare (1%) HP:0006721
39 choreoathetosis 30 Very rare (1%) HP:0001266
40 intention tremor 30 Very rare (1%) HP:0002080
41 decreased circulating iga level 30 Very rare (1%) HP:0002720
42 progressive cerebellar ataxia 30 Very rare (1%) HP:0002073
43 inability to walk 30 Very rare (1%) HP:0002540
44 recurrent lower respiratory tract infections 30 Very rare (1%) HP:0002783
45 diabetes mellitus 58 30 Frequent (79-30%)
 HP:0000819
46 seizures 58 Frequent (79-30%)
47 neurological speech impairment 58 Very frequent (99-80%)
48 abnormality of eye movement 58 Very frequent (99-80%)
49 immunodeficiency 58 Very frequent (99-80%)
50 sinusitis 30 HP:0000246

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

UMLS symptoms related to Ataxia-Telangiectasia:


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

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

25 (show top 50) (show all 57)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.85 BRAF
2 Decreased viability GR00055-A-2 10.85 BRAF
3 Decreased viability GR00106-A-0 10.85 RPA2
4 Decreased viability GR00221-A-1 10.85 CHEK1 RPA2
5 Decreased viability GR00221-A-2 10.85 BRCA1 CHEK1 CHEK2 RPA2
6 Decreased viability GR00221-A-3 10.85 ATM BRCA1 CHEK1 CHEK2 RPA2
7 Decreased viability GR00221-A-4 10.85 ATM CHEK1 CHEK2 BRAF
8 Decreased viability GR00240-S-1 10.85 CHEK1
9 Decreased viability GR00249-S 10.85 CHEK1 ATR BRAF RPA1
10 Decreased viability GR00301-A 10.85 BRCA1 CHEK1 ATR BRAF RPA1
11 Decreased viability GR00342-S-2 10.85 CHEK2
12 Decreased viability GR00381-A-1 10.85 CHEK1 BRAF
13 Decreased viability GR00386-A-1 10.85 CHEK1 RPA1
14 Decreased viability GR00402-S-2 10.85 CHEK1 RPA2 RPA1
15 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.63 ATR BRCA1 CHEK1 H2AX MRE11 NBN
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.63 ATM ATR BRAF BRCA1 CHEK1 H2AX
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.63 ATM ATR BRCA1 CHEK1 CHEK2 H2AX
18 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.97 CHEK2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.97 PRKDC
20 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.97 ATM PRKDC
21 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.97 ATM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.97 CHEK2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.97 ATM CHEK2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.97 CHEK2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.97 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.97 ATM CHEK1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.97 CHEK2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.97 CHEK1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.97 ATM CHEK1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.97 CHEK2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.97 PRKDC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.97 CHEK1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.97 CHEK1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.97 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.97 ATM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.97 ATM
37 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.97 ATM
38 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.97 CHEK1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.97 CHEK1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.97 ATR
41 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.97 PRKDC
42 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.97 PRKDC
43 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.97 CHEK1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.97 PRKDC
45 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.97 ATM PRKDC
46 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.97 CHEK1 CHEK2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.97 CHEK1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.97 ATM
49 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.97 PRKDC
50 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.97 ATM

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 APTX ATM ATR ATRIP BRAF BRCA1
2 neoplasm MP:0002006 10.37 APTX ATM ATR BRAF BRCA1 CHEK1
3 nervous system MP:0003631 10.32 APTX ATM ATR ATRIP BRAF BRCA1
4 growth/size/body region MP:0005378 10.3 APTX ATM ATR ATRIP BRAF BRCA1
5 cellular MP:0005384 10.24 APTX ATM ATR ATRIP BRAF BRCA1
6 endocrine/exocrine gland MP:0005379 10.21 ATM ATR BRAF BRCA1 CHEK1 CHEK2
7 adipose tissue MP:0005375 10.1 APTX ATM ATR BRAF BRCA1 PRKDC
8 immune system MP:0005387 10.1 APTX ATM ATR BRAF BRCA1 CHEK2
9 embryo MP:0005380 10.06 ATM ATR BRAF BRCA1 CHEK1 MRE11
10 cardiovascular system MP:0005385 10.06 ATM ATR BRAF BRCA1 CHEK1 CHEK2
11 pigmentation MP:0001186 10.01 ATR BRAF BRCA1 CHEK1 PRKDC TP53
12 reproductive system MP:0005389 9.97 ATM ATR BRAF BRCA1 CHEK1 CHEK2
13 hematopoietic system MP:0005397 9.77 APTX ATM ATR BRAF BRCA1 CHEK2
14 mortality/aging MP:0010768 9.53 APTX ATM ATR ATRIP BRAF BRCA1
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 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
4
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
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 Adrenergic alpha-Agonists Phase 4
9 Adrenergic Agonists Phase 4
10 Contraceptive Agents Phase 4
11 Mitogens Phase 4
12 Adrenergic Agents Phase 4
13 Antihypertensive Agents Phase 4
14 Estrogens Phase 4
15
Insulin Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estradiol 17 beta-cypionate Phase 4
18 Sympatholytics Phase 4
19 Insulin, Globin Zinc Phase 4
20 Neurotransmitter Agents Phase 4
21 Analgesics Phase 4
22 Hypoglycemic Agents Phase 4
23 Antiviral Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Antiparkinson Agents Phase 4
27 Dopamine Agents Phase 4
28
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3 3680
30
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 3003 5743
31 Vaccines Phase 3
32 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
33 Immunologic Factors Phase 3
34 BB 1101 Phase 3
35
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
36
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
38
Tempol Investigational Phase 2 2226-96-2
39 Nicotinic Acids Phase 2
40 Lipid Regulating Agents Phase 2
41 Micronutrients Phase 2
42 Folate Phase 2
43 Vitamins Phase 2
44 Trace Elements Phase 2
45 Antimetabolites Phase 2
46 Vitamin B9 Phase 2
47 Vitamin B3 Phase 2
48 Vitamin B Complex Phase 2
49 Hypolipidemic Agents Phase 2
50 Vasodilator Agents Phase 2

Interventional clinical trials:

(show all 30)
# 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 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 Completed NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
6 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
7 Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia. Completed NCT03962114 Phase 2
8 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
9 NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia Active, not recruiting NCT04870866 Phase 2 Nicotinamide ribonucleoside
10 An Open Label Study to Assess the Safety and Efficacy of MBM-01 for the Treatment of Ataxia Telangiectasia Not yet recruiting NCT04887311 Phase 2 MBM-01
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 Crossover Study to Evaluate the Comparative Bioavailability, Pharmacokinetics, and Safety of GTX-102 Administered as an Oral Spray Compared to Intramuscular Injection and an Oral Solution of Betamethasone in Healthy Subjects Recruiting NCT05531890 Phase 1 GTX-102 medium dose fast Period 1 and Period 2;GTX-102 medium dose slow Period 1 and Period 2;GTX-102 high dose fast Period 1 and Period 2;GTX-102 low dose fast Period 1 and Period 2;Betamethasone solution as intramuscular injection Period 1 and Period 2;Betamethasone Oral Solution Period 1 and Period 2
13 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
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 Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia Unknown status NCT04605523
16 The Validity of Forced Expiratory Maneuvers in Ataxia Teleangiectasia Studied Longitudinally Unknown status NCT00951886
17 Eye-tacking Method as a Diagnostic Tool for Assessment of Oculomotor Parameters (Gaze-holding Score, Scan Path, Visually Guided Saccades Etc) in Pediatric Patients With Ataxia Telangiectasia Completed NCT05471310
18 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
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 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
21 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of Patients With Ataxia Telangiectasia Completed NCT02285348
22 Body Composition, Muscle Strength and Hormonal Status in Patients With Ataxia Telangiectasia Compared to Healthy Controls Completed NCT02345200
23 Susceptibility to Infections in Patients With Ataxia Telangiectasia : A Prospective Follow-up Study Completed NCT02345135
24 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
25 Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia- A Retrospective Study Recruiting NCT04037189
26 The Natural History of Ataxia Telangiectasia Active, not recruiting NCT04991701
27 Feasibility of Whole-body MRI for Cancer Surveillance in Children and Young People With Ataxia Telangiectasia Not yet recruiting NCT05252819
28 Induced Pluripotent Stem (iPS) Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Terminated NCT02246491
29 Identification of the Predisposing Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Terminated NCT02857894
30 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 28 ATM
2 Ataxia - Telangiectasia Variant 28
Sources

Anatomical Context for Ataxia-Telangiectasia

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Organs/tissues related to Ataxia-Telangiectasia:

MalaCards : Skin, Eye, Lung, Brain, T Cells, Thymus, B Cells
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System
Sources

Publications for Ataxia-Telangiectasia

About this section

Articles related to Ataxia-Telangiectasia:

(show top 50) (show all 7233)
# Title Authors PMID Year
1
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 62 24 57 5
22345219 2012
2
Clinical spectrum of ataxia-telangiectasia in adulthood. 62 24 57 5
19535770 2009
3
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. 62 24 57 5
16832357 2006
4
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. 62 24 57 5
16864838 2006
5
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. 62 24 57 5
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. 62 24 57 5
9682216 1998
7
Genotype-phenotype relationships in ataxia-telangiectasia and variants. 62 24 57 5
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. 62 24 57 5
9463314 1998
9
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. 62 24 57 5
9259193 1997
10
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 62 24 57 5
2491181 1989
11
ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. 53 62 57 5
10677309 2000
12
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. 53 62 57 5
9600235 1998
13
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 53 62 57 5
9443866 1998
14
ATM mutation spectrum in Russian children with ataxia-telangiectasia. 62 57 5
30772474 2020
15
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. 62 57 5
30549301 2019
16
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 62 57 5
16266405 2005
17
Comprehensive scanning of the ATM gene with DOVAM-S. 62 57 5
12552559 2003
18
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. 62 57 5
12497634 2003
19
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. 53 62 24 5
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. 53 62 24 5
11382771 2001
21
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 62 57 5
10980530 2000
22
Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 62 57 5
9887333 1999
23
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 62 57 5
10425038 1999
24
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 62 57 5
9711876 1998
25
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 62 57 5
7792600 1995
26
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations. 62 57 5
6504056 1984
27
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. 62 24 5
26662178 2016
28
Ataxia-telangiectasia with female fertility. 62 24 5
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. 62 24 5
25077176 2014
30
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. 62 24 5
23774824 2013
31
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. 62 24 5
23946315 2013
32
Newborn screening for SCID identifies patients with ataxia telangiectasia. 62 24 5
23264026 2013
33
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 62 24 5
22213089 2012
34
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. 62 24 5
22146522 2012
35
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 62 24 5
19781682 2009
36
Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 62 24 5
19431188 2009
37
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 62 24 5
18634022 2009
38
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. 62 24 5
17166884 2007
39
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. 62 24 5
16958054 2006
40
Molecular pathology of ataxia telangiectasia. 62 24 5
16189143 2005
41
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. 62 24 5
15174027 2004
42
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. 62 24 5
15054841 2004
43
Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement. 62 24 5
12511424 2003
44
Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. 62 24 5
12072877 2002
45
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 62 24 5
11805335 2002
46
Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia. 62 24 5
11391347 2001
47
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 62 24 57
10612394 1999
48
Mutations associated with variant phenotypes in ataxia-telangiectasia. 62 24 5
8755918 1996
49
Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 62 24 57
1377828 1992
50
Incidence of cancer in 161 families affected by ataxia-telangiectasia. 62 24 57
1961222 1991
Sources

Variations for Ataxia-Telangiectasia

About this section

ClinVar genetic disease variations for Ataxia-Telangiectasia:

IMPROVED
5 (show top 50) (show all 8467)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATM and overlap with 1 gene(s) NM_000051.3(ATM):c.3403-?_*(1_?)del DEL Pathogenic
 219910 GRCh37: 11:108151722-108236236
GRCh38: 11:108280995-108365509
2 ATM c.2249ins9 VAR Pathogenic
 267400 GRCh37:
GRCh38:
3 ATM c.3802delG DEL Pathogenic
 267403 GRCh37:
GRCh38:
4 ATM c.8313-2A>C VAR Pathogenic
 267393 GRCh37:
GRCh38:
5 ATM c.2639del200nt VAR Pathogenic
 267402 GRCh37:
GRCh38:
6 ATM c.7271T>G VAR Pathogenic
 267405 GRCh37:
GRCh38:
7 ATM, C11orf65 NC_000011.10:g.(?_108365082)_(108365508_?)del DEL Pathogenic
 264691 GRCh37: 11:108235809-108236235
GRCh38: 11:108365082-108365508
8 ATM NC_000011.10:g.(?_108280995)_(108289801_?)del DEL Pathogenic
 417587 GRCh37: 11:108151722-108160528
GRCh38: 11:108280995-108289801
9 ATM NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer) INDEL Pathogenic
 407685 rs1060501679 GRCh37: 11:108139152-108139154
GRCh38: 11:108268425-108268427
10 ATM NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer) INDEL Pathogenic
 407473 rs1064792938 GRCh37: 11:108160422-108160425
GRCh38: 11:108289695-108289698
11 overlap with 2 genes NC_000011.10:g.(?_108222832)_(108369099_?)del DEL Pathogenic
 417409 GRCh37: 11:108093559-108239826
GRCh38: 11:108222832-108369099
12 ATM, C11orf65 NC_000011.10:g.(?_108343222)_(108369099_?)del DEL Pathogenic
 417406 GRCh37: 11:108213949-108239826
GRCh38: 11:108343222-108369099
13 ATM NC_000011.10:g.(?_108289602)_(108289801_?)del DEL Pathogenic
 417412 GRCh37: 11:108160329-108160528
GRCh38: 11:108289602-108289801
14 ATM NM_000051.4(ATM):c.1221dup (p.Asp408Ter) DUP Pathogenic
Uncertain Significance
 424860 rs1064792998 GRCh37: 11:108119811-108119812
GRCh38: 11:108249084-108249085
15 ATM, C11orf65 NC_000011.10:g.(?_108325310)_(108369099_?)del DEL Pathogenic
 417405 GRCh37: 11:108196037-108239826
GRCh38: 11:108325310-108369099
16 ATM and overlap with 1 gene(s) NC_000011.10:g.(?_108243953)_(108369099_?)del DEL Pathogenic
 417408 GRCh37: 11:108114680-108239826
GRCh38: 11:108243953-108369099
17 ATM and overlap with 1 gene(s) NC_000011.10:g.(?_108297287)_(108335961_?)del DEL Pathogenic
 417410 GRCh37: 11:108168014-108206688
GRCh38: 11:108297287-108335961
18 ATM, C11orf65 NC_000011.10:g.(?_108365076)_(108365514_?)del DEL Pathogenic
 453346 GRCh37: 11:108235803-108236241
GRCh38: 11:108365076-108365514
19 ATM NC_000011.9:g.(?_108178618)_(108236241_?)del DEL Pathogenic
 453342 GRCh37: 11:108178618-108236241
GRCh38:
20 ATM NC_000011.9:g.(?_108098171)_(108124564_?)del DEL Pathogenic
 453333 GRCh37: 11:108098171-108124564
GRCh38:
21 ATM NM_000051.4(ATM):c.901+2delinsAA INDEL Pathogenic
 524303 rs1555067355 GRCh37: 11:108115755-108115755
GRCh38: 11:108245028-108245028
22 ATM NC_000011.10:g.(?_108227619)_(108227894_?)del DEL Pathogenic
 524488 GRCh37: 11:108098346-108098621
GRCh38: 11:108227619-108227894
23 ATM and overlap with 1 gene(s) NG_009830.1:g.(41245_49339)_(137044_147250)dup DUP Pathogenic
 559940 GRCh37:
GRCh38: 11:108259076-108365081
24 ATM NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) SNV Pathogenic
 561184 rs1368412801 GRCh37: 11:108160524-108160524
GRCh38: 11:108289797-108289797
25 ATM NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs) INDEL Pathogenic
 567153 rs1565456465 GRCh37: 11:108160435-108160436
GRCh38: 11:108289708-108289709
26 ATM and overlap with 1 gene(s) NC_000011.10:g.(?_108267165)_(108365514_?)del DEL Pathogenic
 583789 GRCh37: 11:108137892-108236241
GRCh38: 11:108267165-108365514
27 ATM NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) MICROSAT Pathogenic
 584786 rs1565429102 GRCh37: 11:108143565-108143566
GRCh38: 11:108272838-108272839
28 ATM, C11orf65 NC_000011.10:g.(?_108343212)_(108365518_?)del DEL Pathogenic
 639369 GRCh37: 11:108213939-108236245
GRCh38: 11:108343212-108365518
29 ATM, C11orf65 NC_000011.10:g.(?_108365072)_(108365518_?)del DEL Pathogenic
 583621 GRCh37: 11:108235799-108236245
GRCh38: 11:108365072-108365518
30 ATM NC_000011.10:g.(?_108289582)_(108289821_?)del DEL Pathogenic
 644277 GRCh37: 11:108160309-108160548
GRCh38: 11:108289582-108289821
31 ATM NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs) INDEL Pathogenic
 644918 rs1591663850 GRCh37: 11:108160494-108160495
GRCh38: 11:108289767-108289768
32 ATM, C11orf65 NC_000011.10:g.(?_108364109)_(108365518_?)del DEL Pathogenic
 647465 GRCh37: 11:108234836-108236245
GRCh38: 11:108364109-108365518
33 ATM NC_000011.10:g.(?_108227615)_(108229333_?)del DEL Pathogenic
 648529 GRCh37: 11:108098342-108100060
GRCh38: 11:108227615-108229333
34 ATM and overlap with 1 gene(s) NC_000011.10:g.(?_108267161)_(108365518_?)del DEL Pathogenic
 649625 GRCh37: 11:108137888-108236245
GRCh38: 11:108267161-108365518
35 ATM, C11orf65 NC_000011.10:g.(?_108364109)_(108365528_?)del DEL Pathogenic
 660148 GRCh37: 11:108234836-108236255
GRCh38: 11:108364109-108365528
36 ATM, C11orf65 NM_000051.3(ATM):c.5902_5903insSVAelement INSERT Pathogenic
 660416 rs2084039379 GRCh37: 11:108181026-108181027
GRCh38: 11:108310299-108310300
37 ATM and overlap with 1 gene(s) NC_000011.10:g.(?_108280985)_(108365518_?)del DEL Pathogenic
 666226 GRCh37: 11:108151712-108236245
GRCh38: 11:108280985-108365518
38 ATM NM_000051.4(ATM):c.496G>C (p.Glu166Gln) SNV Pathogenic
Pathogenic
Uncertain Significance
 627570 rs1565357473 GRCh37: 11:108106561-108106561
GRCh38: 11:108235834-108235834
39 ATM and overlap with 1 gene(s) NC_000011.10:g.108151767_108183227del DEL Pathogenic
 694625 GRCh37:
GRCh38: 11:108151766-108183226
40 ATM NM_000051.4(ATM):c.3435del (p.Asp1145fs) DEL Pathogenic
 802750 rs1591636349 GRCh37: 11:108151754-108151754
GRCh38: 11:108281027-108281027
41 ATM NC_000011.10:g.(?_108235660)_(108284483_?)del DEL Pathogenic
 831020 GRCh37: 11:108106387-108155210
GRCh38:
42 ATM NC_000011.10:g.(?_108292609)_(108293487_?)del DEL Pathogenic
 831086 GRCh37: 11:108163336-108164214
GRCh38:
43 ATM NC_000011.10:g.(?_108248923)_(108249112_?)del DEL Pathogenic
 831230 GRCh37: 11:108119650-108119839
GRCh38:
44 ATM NC_000011.10:g.(?_108365010)_(108365542_?)del DEL Pathogenic
 831355 GRCh37: 11:108235737-108236269
GRCh38:
45 ATM NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs) DEL Pathogenic
 802765 rs1591732424 GRCh37: 11:108178705-108178709
GRCh38: 11:108307978-108307982
46 ATM NC_000011.10:g.(?_108227625)_(108245036_?)del DEL Pathogenic
 832312 GRCh37: 11:108098352-108115763
GRCh38:
47 ATM, C11orf65 NM_000051.4(ATM):c.7975_7976insSVAelement INSERT Pathogenic
 870229 rs2086551043 GRCh37: 11:108204660-108204661
GRCh38: 11:108333933-108333934
48 ATM NM_000051.4(ATM):c.451_452insSVAelement INSERT Pathogenic
 870243 rs2079244988 GRCh37: 11:108106516-108106517
GRCh38: 11:108235789-108235790
49 ATM NM_000051.4(ATM):c.4493_4494insSVAelement INSERT Pathogenic
 870245 rs2082862502 GRCh37: 11:108163402-108163403
GRCh38: 11:108292675-108292676
50 ATM INSERT Pathogenic
Pathogenic
Pathogenic
Pathogenic
Pathogenic
 870258 GRCh37:
GRCh38:

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

73 (show all 41)
# Symbol AA change Variation ID SNP ID
1 ATM p.Ser49Cys VAR_010798 rs1800054
2 ATM p.Pro292Leu VAR_010802 rs747727055
3 ATM p.Ile323Val VAR_010803 rs587781511
4 ATM p.Phe570Ser VAR_010808 rs777301065
5 ATM p.Asn768Asp VAR_010812
6 ATM p.Arg785Cys VAR_010813 rs587778065
7 ATM p.Leu950Arg VAR_010815 rs786203054
8 ATM p.Leu1001Gln VAR_010816
9 ATM p.Pro1054Arg VAR_010818 rs1800057
10 ATM p.Glu1091Asp VAR_010820
11 ATM p.Leu1420Pro VAR_010823
12 ATM p.Leu1465Pro VAR_010826 rs730881391
13 ATM p.Pro1566Arg VAR_010827
14 ATM p.Ser1691Arg VAR_010830 rs1800059
15 ATM p.Thr1743Ile VAR_010831 rs587779844
16 ATM p.Val1913Gly VAR_010836 rs1060501688
17 ATM p.Ala2067Asp VAR_010840 rs397514577
18 ATM p.Ser2218Cys VAR_010844
19 ATM p.Val2424Gly VAR_010854 rs28904921
20 ATM p.Tyr2470Asp VAR_010858 rs876659365
21 ATM p.Trp2491Arg VAR_010860
22 ATM p.His2554Asp VAR_010862
23 ATM p.Asp2625Gln VAR_010863
24 ATM p.Leu2656Pro VAR_010865 rs121434218
25 ATM p.Ile2702Arg VAR_010870 rs876659735
26 ATM p.Cys2824Tyr VAR_010878 rs876660927
27 ATM p.Phe2827Cys VAR_010879 rs121434216
28 ATM p.Pro2829Leu VAR_010880 rs938431501
29 ATM p.Arg2832Cys VAR_010881 rs587779872
30 ATM p.Arg2849Pro VAR_010882 rs587782202
31 ATM p.Gly2867Arg VAR_010886
32 ATM p.Glu2904Gly VAR_010889 rs786202826
33 ATM p.Arg2909Gly VAR_010890
34 ATM p.Arg3008Cys VAR_010893 rs587782292
35 ATM p.Leu1046Pro VAR_077237 rs568461905
36 ATM p.Gly2023Arg VAR_077238 rs11212587
37 ATM p.Leu2068Ser VAR_077239 rs1555114558
38 ATM p.Tyr2080Asp VAR_077240 rs1064795467
39 ATM p.Tyr2627His VAR_077241
40 ATM p.Phe2834Leu VAR_077242
41 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 GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Gene expression (Transcription) 66
Show member pathways
 14.09 ATM ATR ATRIP BRCA1 CHEK1 CHEK2
2
Disease 66
Show member pathways
 13.85 ATM ATR ATRIP BRAF BRCA1 H2AX
3
ERK Signaling 64
Show member pathways
 13.82 ATM ATR BRAF BRCA1 CHEK1 CHEK2
4
"Cell Cycle, Mitotic" 66
Show member pathways
 13.63 ATM ATR ATRIP BRCA1 CHEK1 CHEK2
5
Cellular responses to stimuli 66
Show member pathways
 13.49 TP53 RPA2 RPA1 NBN MRE11 H2AX
6
Homology Directed Repair 66
Show member pathways
 13.32 ATM ATR ATRIP BRCA1 CHEK1 CHEK2
7
Packaging Of Telomere Ends 66
Show member pathways
 13.21 TP53 RPA2 RPA1 NBN MRE11 H2AX
8
Regulation of TP53 Activity 66
Show member pathways
 13.13 TP53 RPA2 RPA1 NBN MRE11 CHEK2
9
TCR Signaling (Qiagen) 64
Show member pathways
 13.05 ATM ATR BRCA1 CHEK2 H2AX MRE11
10
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.94 ATM ATR ATRIP BRCA1 CHEK1 H2AX
11
Cell Cycle Checkpoints 66
Show member pathways
 12.88 TP53BP1 TP53 RPA2 RPA1 NBN MRE11
12
Meiosis 66
Show member pathways
 12.86 RPA2 RPA1 NBN MRE11 H2AX BRCA1
13
"DNA repair pathways, full network" 74
Show member pathways
 12.81 ATM ATR BRCA1 CHEK1 H2AX MRE11
14
Chks in Checkpoint Regulation 64
Show member pathways
 12.77 TP53 RPA2 PRKDC NBN MRE11 CHEK2
15
Cellular Senescence 66
Show member pathways
 12.73 TP53 NBN MRE11 H2AX ATM
16
Activation of the pre-replicative complex 66
Show member pathways
 12.73 RPA2 RPA1 NBN CHEK2 CHEK1 ATRIP
17
DNA Damage 3
12.7 TRIM29 TP53BP1 TP53 RPA2 RPA1 PRKDC
18
Breast cancer pathway 74
Show member pathways
 12.61 TP53 NBN MRE11 BRCA1 BRAF ATR
19
DNA Double Strand Break Response 66
Show member pathways
 12.57 TP53BP1 TP53 PRKDC NBN MRE11 H2AX
20
NF-kappaB Pathway 70
Show member pathways
 12.49 TP53 CHEK2 CHEK1 ATR ATM
21
Cell cycle 74
Show member pathways
 12.46 TP53 RPA2 RPA1 PRKDC CHEK2 CHEK1
22
p53 Signaling 64
Show member pathways
 12.38 TP53 PRKDC CHEK2 CHEK1 BRCA1 ATR
23
miRNA regulation of DNA damage response 74
Show member pathways
 12.36 ATRIP ATR ATM TP53 RPA2 PRKDC
24
Resolution of D-loop Structures through Holliday Junction Intermediates 66
Show member pathways
 12.35 NBN MRE11 BRCA1 ATM
25
Integrated breast cancer pathway 74
12.35 TP53 MRE11 CHEK2 CHEK1 BRCA1 BRAF
26
Cellular response to heat stress 66
Show member pathways
 12.23 RPA2 RPA1 ATR ATM
27
DNA IR-damage and cellular response via ATR 74
12.12 TP53BP1 TP53 RPA2 RPA1 PRKDC NBN
28
BRCA1 Pathway 64
Show member pathways
 12.05 TP53 NBN MRE11 CHEK2 CHEK1 BRCA1
29
Retinoblastoma gene in cancer 74
11.99 TP53 RPA1 PRKDC NPAT CHEK1
30
Pathways affected in adenoid cystic carcinoma 74
11.77 TP53 PRKDC BRCA1 ATM
31
Regulation of TP53 Expression and Degradation 66
Show member pathways
 11.76 TP53 CHEK2 ATM
32
p53 pathway 61
11.73 TP53 CHEK2 CHEK1 ATR ATM
33
Regulation of Telomerase 61
11.71 NBN MRE11 ATM
34
miRNAs involved in DNA damage response 74
11.7 TP53 H2AX ATM
35
Cell cycle Role of 14-3-3 proteins in cell cycle regulation 22
Show member pathways
 11.67 TP53 CHEK2 CHEK1 ATR ATM
36
Integrated cancer pathway 74
11.63 ATM ATR BRCA1 CHEK1 CHEK2 MRE11
37
ATM Pathway 64
Show member pathways
 11.53 TP53BP1 TP53 NBN MRE11 H2AX CHEK2
38
DNA damage_ATM/ATR regulation of G1/S checkpoint 22
11.5 TP53 NBN CHEK2 CHEK1 BRCA1 ATRIP
39
GADD45 Pathway 64
11.46 TP53 BRCA1 ATR ATM
40
BARD1 signaling events 61
11.46 ATM ATR BRCA1 MRE11 NBN PRKDC
41
ATM signaling in development and disease 74
11.46 TP53BP1 PRKDC NBN MRE11 H2AX CHEK2
42
"Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics" 60
11.38 PRKDC H2AX CHEK2 CHEK1 ATR ATM
43
miRNA regulation of p53 pathway in prostate cancer 74
11.37 TP53 CHEK2 ATM
44
DNA IR-double strand breaks and cellular response via ATM 74
Show member pathways
 11.35 TP53BP1 TP53 PRKDC NBN MRE11 H2AX
45
DNA damage_NHEJ mechanisms of DSBs repair 22
11.33 PRKDC NBN MRE11 BRCA1
46
DNA Damage Induced 14-3-3Sigma Signaling 64
11.22 ATM ATR BRCA1 TP53
47
SMC1/SMC3 role in DNA damage - Cornelia de Lange Syndrome 74
10.95 NBN MRE11 BRCA1 ATM
48
DNA-PK pathway in nonhomologous end joining 61
10.83 PRKDC APTX
49
ATR signaling 74
10.8 RPA1 CHEK1 ATR
50
NIPBL role in DNA damage - Cornelia de Lange syndrome 74
10.75 H2AX ATR ATM
Sources

GO Terms for Ataxia-Telangiectasia

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.64 APTX ATM ATR ATRIP BRCA1 CHEK1
2 chromosome GO:0005694 10.06 TP53BP1 NBN MRE11 H2AX CHEK1 BRCA1
3 site of double-strand break GO:0035861 10.03 TP53BP1 TP53 RPA2 NBN MRE11 H2AX
4 PML body GO:0016605 10 ATR CHEK2 MRE11 NBN RPA1 RPA2
5 condensed nuclear chromosome GO:0000794 9.91 H2AX CHEK1 BRCA1
6 DNA repair complex GO:1990391 9.85 ATM BRCA1 TP53BP1
7 DNA replication factor A complex GO:0005662 9.83 RPA2 RPA1
8 chromosomal region GO:0098687 9.8 NBN MRE11
9 BRCA1-C complex GO:0070533 9.8 NBN MRE11 BRCA1
10 Mre11 complex GO:0030870 9.78 NBN MRE11
11 ATR-ATRIP complex GO:0070310 9.76 ATRIP ATR
12 replication fork GO:0005657 9.73 TP53BP1 TP53 NBN MRE11 H2AX CHEK1
13 chromosome, telomeric region GO:0000781 9.66 ATM ATR CHEK1 CHEK2 H2AX MRE11

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 signal transduction in response to DNA damage GO:0006975 10.45 CHEK2 CHEK1 ATM
2 signal transduction in response to DNA damage GO:0042770 10.45 CHEK2 CHEK1 ATM
3 DNA replication GO:0006260 10.26 RPA2 RPA1 CHEK1 ATR
4 double-strand break repair via homologous recombination GO:0000724 10.25 RPA2 RPA1 NBN MRE11 H2AX BRCA1
5 double-strand break repair GO:0006302 10.21 TP53 PRKDC NBN MRE11 H2AX CHEK2
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 10.2 PRKDC CHEK2 BRCA1 ATM
7 meiotic cell cycle GO:0051321 10.19 RPA1 NBN MRE11 H2AX
8 mitotic G2 DNA damage checkpoint signaling GO:0007095 10.18 ATM BRCA1 CHEK1 MRE11 NBN
9 cellular senescence GO:0090398 10.17 TP53 H2AX ATM
10 telomere maintenance GO:0000723 10.17 ATM ATR MRE11 NBN PRKDC RPA1
11 somitogenesis GO:0001756 10.16 TP53 PRKDC ATM
12 regulation of signal transduction by p53 class mediator GO:1901796 10.16 ATM CHEK1 CHEK2
13 nucleotide-excision repair GO:0006289 10.15 TP53 RPA2 RPA1
14 T cell differentiation in thymus GO:0033077 10.15 TP53 PRKDC BRAF
15 double-strand break repair via nonhomologous end joining GO:0006303 10.15 TP53BP1 PRKDC MRE11 ATM
16 cell cycle GO:0007049 10.13 ATM BRCA1 CHEK1 CHEK2 H2AX NBN
17 cellular response to gamma radiation GO:0071480 10.13 ATM ATR CHEK2 H2AX TP53
18 phosphorylation GO:0016310 10.12 PRKDC CHEK2 CHEK1 BRAF ATR ATM
19 response to ionizing radiation GO:0010212 10.11 PRKDC H2AX BRCA1 ATM
20 mitotic G2/M transition checkpoint GO:0044818 10.11 NBN MRE11 CHEK1 BRCA1
21 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 10.09 TP53 CHEK2 ATM
22 cellular response to DNA damage stimulus GO:0006974 10.09 APTX ATM ATR ATRIP BRCA1 CHEK1
23 nucleobase-containing compound metabolic process GO:0006139 10.08 ATRIP ATR APTX
24 mitotic G1 DNA damage checkpoint signaling GO:0031571 10.07 PRKDC RPA2 TP53
25 replicative senescence GO:0090399 10.07 TP53 CHEK2 CHEK1 ATR ATM
26 DNA recombination GO:0006310 10.06 RPA2 RPA1 PRKDC MRE11 H2AX BRCA1
27 DNA damage checkpoint signaling GO:0000077 10.06 ATM ATR ATRIP CHEK1 CHEK2 H2AX
28 homologous recombination GO:0035825 10.05 NBN MRE11 BRCA1
29 response to gamma radiation GO:0010332 10.04 CHEK2 PRKDC TP53
30 DNA strand resection involved in replication fork processing GO:0110025 10.01 NBN MRE11 BRCA1
31 T cell lineage commitment GO:0002360 9.98 TP53 PRKDC
32 B cell lineage commitment GO:0002326 9.97 PRKDC TP53
33 negative regulation of telomere capping GO:1904354 9.97 ATM NBN
34 protein localization to chromosome GO:0034502 9.96 RPA2 RPA1
35 telomeric 3' overhang formation GO:0031860 9.95 NBN MRE11
36 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.93 ATR ATM
37 establishment of protein-containing complex localization to telomere GO:0097695 9.93 ATR ATM
38 establishment of RNA localization to telomere GO:0097694 9.92 ATR ATM
39 regulation of macromolecule metabolic process GO:0060255 9.79 ATM ATR PRKDC
40 regulation of cellular response to stress GO:0080135 9.76 PRKDC ATR ATM
41 positive regulation of response to stimulus GO:0048584 9.73 PRKDC ATR ATM
42 regulation of nucleobase-containing compound metabolic process GO:0019219 9.67 PRKDC ATR ATM
43 response to stress GO:0006950 9.66 ATR ATM
44 DNA repair GO:0006281 9.62 APTX ATM ATR ATRIP BRCA1 CHEK1

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

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 10.23 PRKDC CHEK2 CHEK1 BRAF ATR ATM
2 protein serine kinase activity GO:0106310 10.1 PRKDC CHEK2 CHEK1 BRAF ATR ATM
3 DNA binding GO:0003677 10.09 TP53BP1 TP53 RPA2 RPA1 PRKDC MRE11
4 protein kinase activity GO:0004672 10.07 ATM ATR BRAF CHEK1 CHEK2 PRKDC
5 kinase activity GO:0016301 9.91 PRKDC CHEK2 CHEK1 BRAF ATR ATM
6 p53 binding GO:0002039 9.86 BRCA1 TP53 TP53BP1 TRIM29
7 DNA-dependent protein kinase activity GO:0004677 9.71 PRKDC ATM
8 protein N-terminus binding GO:0047485 9.65 APTX ATM NBN RPA2 TP53
9 damaged DNA binding GO:0003684 9.47 TP53BP1 RPA2 RPA1 NBN H2AX BRCA1
Sources

Sources for Ataxia-Telangiectasia

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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