MCID: ATX030
MIFTS: 76

Ataxia-Telangiectasia malady

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

Aliases & Classifications for Ataxia-Telangiectasia

About this section

Aliases & Descriptions for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 51 23 24 25 53 69 12 34
Ataxia Telangiectasia 34 11 70 47 24 48 69 49 37 38 13 67
Louis-Bar Syndrome 47 24 25 53 69
Ataxia-Telangiectasia Variant 53 26 67
a-T 24 25
at 47 69
Immunodeficiency with Ataxia Telangiectasia 47
Telangiectasia, Cerebello-Oculocutaneous 25
 
Cerebello-Oculocutaneous Telangiectasia 47
Ataxia Telangiectasia Syndrome 25
Boder-Sedgwick Syndrome 11
Louis Bar Syndrome 11
V-at 53
Atm 25
At1 69

Characteristics:

Orphanet epidemiological data:

53
ataxia-telangiectasia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (France),1-9/100000 (Italy); Age of onset: Childhood,Infancy; Age of death: adult

HPO:

63
ataxia-telangiectasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 208900
Disease Ontology11 DOID:12704
MeSH38 D001260
NCIt44 C2887
SNOMED-CT61 68504005
MESH via Orphanet39 D001260
UMLS via Orphanet68 C0004135
ICD10 via Orphanet30 G11.3

Summaries for Ataxia-Telangiectasia

About this section
Genetics Home Reference:25 Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.

MalaCards based summary: Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to familial breast cancer and breast cancer, and has symptoms including polycystic ovaries, strabismus and nystagmus. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways are PLK3 signaling events and Regulation of TP53 Expression and Degradation. Affiliated tissues include eye, skin and brain, and related mouse phenotypes are pigmentation and adipose tissue.

UniProtKB/Swiss-Prot:69 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

MedlinePlus:37 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:48 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.

OMIM:51 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases,... (208900) more...

NIH Rare Diseases:47 Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. Last updated: 4/5/2016

Wikipedia:70 Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis–Bar... more...

GeneReviews for NBK26468

Related Diseases for Ataxia-Telangiectasia

About this section

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder

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

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1familial breast cancer30.6BRCA1, CHEK2
2breast cancer28.4ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
3ataxia-telangiectasia-like disorder12.6
4nijmegen breakage syndrome12.1
5cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk11.8
6pulmonary fungal infections in patients deemed at risk11.8
7poliomyelitis in patients with immunodeficiencies deemed at risk11.8
8arterial tortuosity syndrome11.6
9ocular motor apraxia11.3
10atypical teratoid rhabdoid tumor11.3
11thrombophilia due to antithrombin iii deficiency11.3
12ataxia11.2
13ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia11.0
14short-rib thoracic dysplasia 1 with or without polydactyly11.0
15pancreatic cancer11.0
16liddle syndrome, scnn1g-related10.5CHEK2, TP53
17lymphoma10.4
18leukemia10.4
19simple partial epilepsy10.4PCNA, TP53
20lethal congenital contracture syndrome 710.4BRCA1, NBN
21cervical serous adenocarcinoma10.4BRCA1, TP53
22bile duct disease10.4ATM, BRCA1, TP53
23internal auditory canal lipoma10.3ATM, BRCA1, CHEK2
24breast cancer, childhood10.3BRCA1, CHEK2, NBN
25lung cancer10.3
26amyloid tumor10.3ATM, BRCA1
27bejel10.3ATM, BRCA1, CHEK1
28hodgkin lymphoma10.2
29lung acinar adenocarcinoma10.2CDKN1A, TP53
30pineal region meningioma10.2ATM, BRCA1, CHEK2, TP53
31lymphoblastic leukemia10.2
32neuronitis10.2
33ureter inverted papilloma10.1CDKN1A, TP53
34arthrogryposis, renal dysfunction, and cholestasis 110.1ATM, BRCA1, H2AFX
35bloom syndrome10.1
36gastric cancer10.1
37dystonia10.1
38gastrointestinal system cancer10.1BRCA1, CDKN1A, TP53
39b-cell lymphomas10.1
40chronic lymphocytic leukemia10.1
41hepatitis10.1
42adenocarcinoma10.1
43cerebritis10.1
44thyroiditis10.1
45glioma10.1
46dysostosis10.1BRCA1, CDKN1A, TP53
47mixed endometrial stromal and smooth muscle tumor10.0CDKN1A, TP53
48werner syndrome10.0
49diffuse large b-cell lymphoma10.0
50hemolytic anemia10.0

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



Diseases related to ataxia-telangiectasia

Symptoms for Ataxia-Telangiectasia

About this section

Symptoms by clinical synopsis from OMIM:

208900

Clinical features from OMIM:

208900

Human phenotypes related to Ataxia-Telangiectasia:

 63 53 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polycystic ovaries63 53 hallmark (90%) Very frequent (99-80%) HP:0000147
2 strabismus63 53 hallmark (90%) Very frequent (99-80%) HP:0000486
3 nystagmus63 53 hallmark (90%) Very frequent (99-80%) HP:0000639
4 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
5 tremor63 53 hallmark (90%) Very frequent (99-80%) HP:0001337
6 lymphopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001888
7 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
8 recurrent respiratory infections63 53 hallmark (90%) Very frequent (99-80%) HP:0002205
9 premature graying of hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002216
10 incoordination63 hallmark (90%) HP:0002311
11 elevated hepatic transaminases63 53 hallmark (90%) Very frequent (99-80%) HP:0002910
12 abnormality of chromosome stability63 53 hallmark (90%) Very frequent (99-80%) HP:0003220
13 decreased antibody level in blood63 53 hallmark (90%) Very frequent (99-80%) HP:0004313
14 cellular immunodeficiency63 53 hallmark (90%) Very frequent (99-80%) HP:0005374
15 aplasia/hypoplasia of the thymus63 53 hallmark (90%) Very frequent (99-80%) HP:0010515
16 mucosal telangiectasiae63 53 hallmark (90%) Very frequent (99-80%) HP:0100579
17 telangiectasia of the skin63 hallmark (90%) HP:0100585
18 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
19 hypertonia63 typical (50%) HP:0001276
20 neoplasm63 53 typical (50%) Frequent (79-30%) HP:0002664
21 skeletal muscle atrophy63 53 typical (50%) Frequent (79-30%) HP:0003202
22 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
23 hypopigmentation of hair63 53 typical (50%) Frequent (79-30%) HP:0005599
24 abnormality of the testis63 53 occasional (7.5%) Occasional (29-5%) HP:0000035
25 cafe-au-lait spot63 occasional (7.5%) HP:0000957
26 type ii diabetes mellitus63 53 occasional (7.5%) Occasional (29-5%) HP:0005978
27 aplasia/hypoplasia of the skin63 53 occasional (7.5%) Occasional (29-5%) HP:0008065
28 cognitive impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0100543
29 female hypogonadism63 HP:0000134
30 sinusitis63 HP:0000246
31 conjunctival telangiectasia63 HP:0000524
32 hypoplasia of the thymus63 HP:0000778
33 diabetes mellitus63 53 Frequent (79-30%) HP:0000819
34 delayed puberty63 53 Very frequent (99-80%) HP:0000823
35 glucose intolerance63 HP:0000833
36 ataxia63 53 Very frequent (99-80%) HP:0001251
37 dysarthria63 53 Frequent (79-30%) HP:0001260
38 choreoathetosis63 HP:0001266
39 reduced tendon reflexes63 HP:0001315
40 dystonia63 HP:0001332
41 myoclonus63 HP:0001336
42 abnormality of the hair63 HP:0001595
43 leukemia63 HP:0001909
44 bronchiectasis63 HP:0002110
45 iga deficiency63 HP:0002720
46 recurrent bronchitis63 HP:0002837
47 defective b cell differentiation63 HP:0005357
48 decreased number of cd4+ t cells63 HP:0005407
49 elevated alpha-fetoprotein63 HP:0006254
50 immunoglobulin igg2 deficiency63 HP:0008348
51 abnormal spermatogenesis63 HP:0008669
52 hodgkin lymphoma63 HP:0012189
53 non-hodgkin lymphoma63 HP:0012539
54 abnormality of eye movement53 Very frequent (99-80%)
55 spasticity53 Frequent (79-30%)
56 failure to thrive53 Occasional (29-5%)
57 abnormality of the immune system53 Very frequent (99-80%)
58 immunodeficiency53 Very frequent (99-80%)
59 prematurely aged appearance53 Very frequent (99-80%)
60 multiple cafe-au-lait spots53 Occasional (29-5%)
61 abnormality of movement53 Very frequent (99-80%)
62 teleangiectasia of the skin53 Very frequent (99-80%)

UMLS symptoms related to Ataxia-Telangiectasia:


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

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 96)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigational, vet_approvedPhase 4128350-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
2
ClonidineapprovedPhase 42264205-90-72803
Synonyms:
1H-Imidazol-2-amine, N-(2,6-dichlorophenyl)-4,5-dihydro- (9CI)
2,6-Dichloro-N-2-imidazolidinylidenebenzenamine
2,6-dichloro-N-(2-imidazolidinylidene)aniline
2,6-dichloro-N-2-imidazolidinylidenebenzenamide
2,6-dichloro-N-imidazolidin-2-ylideneaniline
2-((2,6-Dichlorophenyl)imino)imidazolidine
2-(2,6-Dichloroanilino)-1,3-diazacyclopentene-(2)
2-(2,6-Dichloroanilino)-2-imidazoline
2-(2,6-Dichlorophenylamino)-2-imidazoline
2-(2,6-Dichlorophenylimino)imidazolidine
2-Imidazoline, 2-(2,6-dichloroanilino)- (7CI,8CI)
2-[(2,6-Dichlorophenyl)imino]imidazoline
2-[(2,6-dichlorophenyl)imino]-2-imidazoline
4205-90-7
4205-91-8 (mono-hydrochloride)
57066-25-8
734571A
AB00514634
AC1L1EI5
AC1Q3K6V
AKOS001595470
Adesipress
BIDD:GT0547
BPBio1_000040
BRD-K98530306-001-02-1
BRD-K98530306-003-05-0
BSPBio_000036
BSPBio_001588
BSPBio_002055
Bio1_000470
Bio1_000959
Bio1_001448
Bio2_000308
Bio2_000788
C9H9Cl2N3
CAS-4205-91-8
CATAPRES-TTS-1
CATAPRES-TTS-2
CATAPRES-TTS-3
CCRIS 7787
CHEBI:3757
CHEBI:46632
CHEMBL134
CID2803
Catapres
Catapres- TTS
Catapres-TTS
Catapresan
Catapressan
Catarpres
Catarpres-TTS
Catarpres-TTS (TN)
Catarpresan
Chlofazoline
Chlornidinum
Clofenil
Clonidin
Clonidina
Clonidina [INN-Spanish]
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine [USAN:BAN:INN]
Clonidinhydrochlorid
Clonidinum
Clonidinum [INN-Latin]
Clonistada
Clopheline
D00281
DB00575
DB07566
DivK1c_000774
 
Dixarit
Duraclon
Duraclont
EINECS 224-119-4
Gemiton
HMS1361P10
HMS1791P10
HMS1989P10
HMS2089G11
HSDB 3040
Hemiton
IDI1_000774
IDI1_034058
Ipotensium
Isoglaucon
KBio1_000774
KBio2_000308
KBio2_001821
KBio2_002876
KBio2_004389
KBio2_005444
KBio2_006957
KBio3_000615
KBio3_000616
KBio3_001275
KBioGR_000308
KBioGR_001572
KBioSS_000308
KBioSS_001821
Klofelin
Klofenil
L000193
LS-79606
Lopac-C-7897
Lopac0_000268
M 5041T
M-5041T
MolPort-001-779-668
MolPort-005-932-374
N-(2,6-Dichlorophenyl)-4,5-dihydro-1H-imidazol-2-amine
NCGC00015268-01
NCGC00015268-02
NCGC00015268-08
NCGC00024734-01
NCGC00024734-02
NCGC00024734-03
NCGC00024734-04
NCGC00024734-05
NCGC00179680-01
NINDS_000774
Prestwick0_000248
Prestwick1_000248
Prestwick2_000248
Prestwick3_000248
SKF 34427
SPBio_001233
SPBio_002255
ST 155BS
ST-155-BS
ST-155BS
Spectrum2_001187
Spectrum3_000358
Spectrum4_000956
Spectrum5_000759
Spectrum_001341
T171
Tenso-Timelets
Tocris-0690
UNII-MN3L5RMN02
ZINC00896484
clonidine
nchembio.79-comp11
nchembio705-10
3
DopamineapprovedPhase 4375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
4
AmantadineapprovedPhase 467768-94-52130
Synonyms:
1-Adamantamine
1-Adamantanamine
1-Adamantanamine (8CI)
1-Adamantylamine
1-Aminoadamantane
1-Aminotricyclo(3.3.1.1(sup 3,7))decane
1-adamantanamine
1-adamantylamine
1-aminoadamantane
138576_ALDRICH
665-66-7 (hydrochloride)
768-94-5
AB00514655
AC-11992
AC1L1CZI
AC1Q4UAF
AC1Q5396
ADAMANTANE,1-AMINO
AKOS000113994
AKOS000119324
Adamantamine
Adamantanamine
Adamantylamine
Amant
Amantadina
Amantadina [INN-Spanish]
Amantadine
Amantadine (INN)
Amantadine Base
Amantadine HCL
Amantadine Hydrochloride
Amantadine [INN:BAN]
Amantadinum
Amantadinum [INN-Latin]
Amantidine
Ambap768-94-5
Aminoadamantane
BIA4304
BIDD:GT0757
BPBio1_000368
BRN 2204333
BSPBio_000334
BSPBio_001570
BSPBio_001822
Bio-0821
C06818
C10H17N
CHEBI:2618
CHEMBL660
CID2130
D07441
DB00915
DivK1c_000815
EINECS 212-201-2
Endantadine
Gen-Amantadine
HMS1791O12
HMS1989O12
HSDB 3202
I14-1101
IDI1_000815
InChI=1/C10H17N/c11-10-4-7-1-8(5-10)3-9(2-7)6-10/h7-9H,1-6,11H
KBio1_000815
KBio2_000390
 
KBio2_002958
KBio2_005526
KBio3_001322
KBioGR_000548
KBioSS_000390
L000868
LS-157049
Lopac-A-1260
Lopac0_000004
Mantadine
MolPort-001-661-700
MolPort-001-760-587
MolPort-001-791-102
NCGC00015036-01
NCGC00015036-07
NCGC00162039-01
NCGC00162039-02
NCGC00162039-03
NCGC00162039-04
NCGC00179597-01
NCIOpen2_001059
NINDS_000815
NSC 341865
NSC341865
NSC83653
OR14310
Oprea1_248648
Pk-Merz
Pk-merz
Prestwick0_000407
Prestwick1_000407
Prestwick2_000407
Prestwick3_000407
SPBio_000002
SPBio_002273
STK298781
Spectrum2_000081
Spectrum3_000291
Spectrum4_000134
Spectrum5_000772
Spectrum_000030
Symadine
Symmetrel
TCMDC-125869
TL8005280
Tricyclo(3.3.1.1(3,7))-decan-1-amine
Tricyclo(3.3.1.1(sup 3,7))decan-1-amine
Tricyclo(3.3.1.1(sup 3.7))decan-1-amine
Tricyclo(3.3.1.13,7)decan-1-amine
Tricyclo[3.3.1.1(3,7)]decan-1-amine
Tricyclo[3.3.1.1(3,7)]decan-1-ylamine
Tricyclo[3.3.1.1(3,7)]decane-1-amine
Tricyclo[3.3.1.1(sup3,7)]decan-1-amine
Tricyclo[3.3.1.1^3,7]decan-1-amine
UNII-BF4C9Z1J53
Viregyt
Virosol
WLN: L66 B6 A B- C 1B ITJ BZ
Wiregyt
adamantan-1-amine
adamantan-1-ylamine
amantadine
amantadine hydrochloride
tricyclo[3.3.1.1(3,7)]decan-1-ylamine
tricyclo[3.3.1.1(3,7)]decane-1-amine
tricyclo[3.3.1.1~3,7~]decan-1-amine
5
Pioglitazoneapproved, investigationalPhase 4435111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
6
MetforminapprovedPhase 41746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
7MitogensPhase 41526
8insulinPhase 44524
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 312767
10Insulin, Globin ZincPhase 44523
11Peripheral Nervous System AgentsPhase 4, Phase 322776
12SympatholyticsPhase 4555
13Adrenergic AgentsPhase 45140
14HormonesPhase 4, Phase 313979
15Neurotransmitter AgentsPhase 417734
16Polyestradiol phosphatePhase 41283
17AnalgesicsPhase 411287
18Antihypertensive AgentsPhase 44095
19Adrenergic alpha-2 Receptor AgonistsPhase 4911
20Hormone AntagonistsPhase 4, Phase 312778
21Adrenergic alpha-AgonistsPhase 41625
22Adrenergic AgonistsPhase 42877
23Autonomic AgentsPhase 4, Phase 39774
24Estradiol valeratePhase 41283979-32-8
25EstrogensPhase 42470
26Estradiol 3-benzoatePhase 41283
27Estradiol 17 beta-cypionatePhase 41283
28Contraceptive AgentsPhase 41901
29Antiviral AgentsPhase 4, Phase 29732
30Dopamine AgentsPhase 43759
31Antiparkinson AgentsPhase 41527
32Anti-Infective AgentsPhase 4, Phase 221402
33Analgesics, Non-NarcoticPhase 46260
34Hypoglycemic AgentsPhase 45733
35arginineNutraceuticalPhase 4408
36
Dexamethasoneapproved, investigational, vet_approvedPhase 3208450-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
37Heptavalent Pneumococcal Conjugate VaccinePhase 3454
38VaccinesPhase 36428
39Dexamethasone 21-phosphatePhase 32084
40Dexamethasone acetatePhase 320841177-87-3
41Gastrointestinal AgentsPhase 38109
42glucocorticoidsPhase 34920
43Anti-Inflammatory AgentsPhase 310355
44AntiemeticsPhase 33888
45Antineoplastic Agents, HormonalPhase 35407
46BB 1101Phase 32084
47
protease inhibitorsPhase 35320
Synonyms:
 
protease inhibitors
48Pharmaceutical SolutionsPhase 37793
49HIV Protease InhibitorsPhase 35319
50
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)Unknown statusNCT01052623Phase 4
2Amantadine for Improving Neurologic Symptoms in Ataxia-TelangiectasiaCompletedNCT00950196Phase 4
3Response of Individuals With Ataxia-Telangiectasia to Metformin and PioglitazoneRecruitingNCT02733679Phase 4
4Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)CompletedNCT00656409Phase 3
5EDS in Ataxia Telangiectasia PatientsNot yet recruitingNCT02770807Phase 3
6Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell TransplantCompletedNCT00110045Phase 2
7Gemcitabine Hydrochloride Alone or With VX-970 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube CancerRecruitingNCT02595892Phase 2
8Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer PatientsActive, not recruitingNCT01063517Phase 2
9A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002)WithdrawnNCT01244009Phase 2
10Study of AZD6738, DNA Damage Repair/Novel Anti-cancer Agent, in Combination With Paclitaxel, in Refractory CancerRecruitingNCT02630199Phase 1
11Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia PatientsUnknown statusNCT01075438
12Susceptibility to Infections in Ataxia TelangiectasiaUnknown statusNCT02345135
13Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-TUnknown statusNCT02285348
14Baclofen Treatment of Ataxia TelangiectasiaUnknown statusNCT00640003Early Phase 1
15The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied LongitudinallyUnknown statusNCT00951886
16Body Composition and Hormonal Status in Ataxia TelangiectasiaCompletedNCT02345200
17Study for Treatment of Cancer in Children With Ataxia-telangiectasiaCompletedNCT00187057
18International Ataxia Rating Scale in Younger PatientsCompletedNCT01942850
19Cell-Based Approaches For Modeling and Treating Ataxia-TelangiectasiaRecruitingNCT02246491
20Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)RecruitingNCT02857894
21Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
22Development of iPS From Donated Somatic Cells of Patients With Neurological DiseasesRecruitingNCT00874783
23Pancreatic Cancer Screening of High-Risk Individuals in ArkansasActive, not recruitingNCT02309632

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


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


Cochrane evidence based reviews: ataxia telangiectasia

Genetic Tests for Ataxia-Telangiectasia

About this section

Genetic tests related to Ataxia-Telangiectasia:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome26
2 Ataxia-Telangiectasia Variant26
3 Ataxia-Telangiectasia24 ATM

Anatomical Context for Ataxia-Telangiectasia

About this section

MalaCards organs/tissues related to Ataxia-Telangiectasia:

35
Eye, Skin, Brain, Lung, Breast, T cells, B cells

Animal Models for Ataxia-Telangiectasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

40 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5ATR, BRCA1, PRKDC, RAD50, TP53
2MP:00053758.6ATM, ATR, BRCA1, CDKN1A, PCNA, PRKDC
3MP:00053807.8ATM, ATR, BRCA1, CDKN1A, CHEK1, GADD45A
4MP:00107717.6ATM, ATR, BRCA1, CDKN1A, CHEK1, GADD45A
5MP:00053766.4APTX, ATM, ATR, BRCA1, CDKN1A, CHEK2
6MP:00053786.3ATM, ATR, BRCA1, CDKN1A, GADD45A, H2AFX
7MP:00053896.1ATM, ATR, BRCA1, CDKN1A, CHEK1, GADD45A
8MP:00020066.1ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
9MP:00053876.0ATM, ATR, BRCA1, CDKN1A, CHEK2, DCLRE1C
10MP:00053976.0ATM, ATR, BRCA1, CDKN1A, CHEK2, DCLRE1C
11MP:00053795.7ATM, ATR, BRCA1, CDKN1A, CHEK1, DCLRE1C
12MP:00107685.5ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
13MP:00053845.4APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1

Publications for Ataxia-Telangiectasia

About this section

Articles related to Ataxia-Telangiectasia:

(show top 50)    (show all 856)
idTitleAuthorsYear
1
Serum Interleukin-6 Levels and Pulmonary Function inA Ataxia-Telangiectasia. (26851119)
2016
2
Analysis of Residual DSBs in Ataxia-Telangiectasia Lymphoblast Cells Initiating Apoptosis. (27057549)
2016
3
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. (27664052)
2016
4
Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report. (26266230)
2015
5
Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin. (25881033)
2015
6
Mutation of ataxia-telangiectasia mutated is associated with dysfunctional glutathione homeostasis in cerebellar astroglia. (26469940)
2015
7
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. (25042086)
2014
8
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. (23807571)
2013
9
The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia. (23502677)
2013
10
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. (22006793)
2012
11
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. (22213089)
2012
12
Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice. (21321203)
2011
13
Ataxia telangiectasia: A report of two cousins and review of literature. (22563157)
2011
14
Ataxia telangiectasia and Rad3-related overexpressing cancer cells induce prolonged Ga88 arrest and develop resistance to ionizing radiation. (21294646)
2011
15
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. (21792198)
2011
16
Ataxia telangiectasia: Family management. (20838492)
2010
17
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. (20947454)
2010
18
Update on the management of the immunodeficiency in ataxia-telangiectasia. (20477642)
2009
19
Syndrome of premature ageing in ataxia-telangiectasia patients]. (19799357)
2009
20
Hemorrhagic cystitis in a child with Hodgkin lymphoma and ataxia-telangiectasia after cyclophosphamide. (19418546)
2009
21
Prognostic significance of ataxia-telangiectasia mutated, DNA-dependent protein kinase catalytic subunit, and Ku heterodimeric regulatory complex 86-kD subunit expression in patients with nonsmall cell lung cancer. (18457328)
2008
22
Ataxia-telangiectasia mutated expression is associated with tobacco smoke exposure in esophageal cancer tissues and benzo[a]pyrene diol epoxide in cell lines. (17019709)
2007
23
A proteomic analysis of ataxia telangiectasia-mutated (ATM)/ATM-Rad3-related (ATR) substrates identifies the ubiquitin-proteasome system as a regulator for DNA damage checkpoints. (17478428)
2007
24
Recruitment of ataxia-telangiectasia mutated to the p21(waf1) promoter by ZBP-89 plays a role in mucosal protection. (16952553)
2006
25
Modifications of nuclear architecture and chromatin organization in ataxia telangiectasia cells are coupled to changes of gene transcription. (16795050)
2006
26
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing. (16411093)
2006
27
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia. (16380133)
2006
28
Ataxia telangiectasia mutated down-regulates phospho-extracellular signal-regulated kinase 1/2 via activation of MKP-1 in response to radiation. (17178844)
2006
29
Identification of an ataxia telangiectasia-mutated protein mediated surveillance system to regulate Bcl-2 overexpression. (16636671)
2006
30
Molecular basis of ataxia telangiectasia and related diseases. (16038621)
2005
31
Molecular pathology of ataxia telangiectasia. (16189143)
2005
32
Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A. (15510216)
2004
33
A critical role for Pin2/TRF1 in ATM-dependent regulation. Inhibition of Pin2/TRF1 function complements telomere shortening, radiosensitivity, and the G(2)/M checkpoint defect of ataxia-telangiectasia cells. (11744712)
2002
34
Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. (11839094)
2002
35
Spontaneous and oxidative stress-induced programmed cell death in lymphocytes from patients with ataxia telangiectasia (AT). (10606975)
2000
36
Efficient DNA base excision repair in ataxia telangiectasia cells. (11082200)
2000
37
Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM. (10500142)
1999
38
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations. (9792410)
1998
39
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. (9711876)
1998
40
Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay. (10464655)
1997-1998
41
G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. (9343108)
1997
42
An unusual case of urinary incontinence, ataxia-telangiectasia, and metastatic dysgerminoma: case report and review of the literature. (9301718)
1997
43
Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. (9168116)
1997
44
Rapamycin resistance in ataxia-telangiectasia. (8806686)
1996
45
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. (7573059)
1995
46
An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant. (7788963)
1995
47
Reduced induction of P53 protein by gamma-irradiation in ataxia telangiectasia cells without constitutional mutations in exons 5, 6, 7, and 8 of the p53 gene. (7923077)
1994
48
Cloning efficiency and spontaneous mutant frequency in circulating T-lymphocytes in ataxia-telangiectasia patients. (7836839)
1994
49
Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells. (8247533)
1993
50
Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families. (3943665)
1986

Variations for Ataxia-Telangiectasia

About this section

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

69 (show all 46)
id Symbol AA change Variation ID SNP ID
1ATMp.Lys224GluVAR_010801rs145053092
2ATMp.Pro292LeuVAR_010802rs747727055
3ATMp.Ile323ValVAR_010803rs587781511
4ATMp.Phe570SerVAR_010808rs777301065
5ATMp.Asn768AspVAR_010812
6ATMp.Arg785CysVAR_010813rs587778065
7ATMp.Leu950ArgVAR_010815rs786203054
8ATMp.Leu1001GlnVAR_010816
9ATMp.His1082LeuVAR_010819
10ATMp.Glu1091AspVAR_010820
11ATMp.Leu1420ProVAR_010823
12ATMp.Leu1465ProVAR_010826rs730881391
13ATMp.Pro1566ArgVAR_010827
14ATMp.Thr1743IleVAR_010831rs587779844
15ATMp.Val1913GlyVAR_010836
16ATMp.Asp2016GlyVAR_010838rs587781302
17ATMp.Gly2063GluVAR_010839rs866290641
18ATMp.Ala2067AspVAR_010840rs397514577
19ATMp.Ser2218CysVAR_010844
20ATMp.Arg2227CysVAR_010846rs564652222
21ATMp.Val2424GlyVAR_010854rs28904921
22ATMp.Tyr2470AspVAR_010858
23ATMp.Trp2491ArgVAR_010860
24ATMp.His2554AspVAR_010862
25ATMp.Asp2625GlnVAR_010863
26ATMp.Leu2656ProVAR_010865rs121434218
27ATMp.Glu2668GlyVAR_010868
28ATMp.Ile2702ArgVAR_010870
29ATMp.Ala2726ValVAR_010874
30ATMp.Cys2824TyrVAR_010878
31ATMp.Phe2827CysVAR_010879rs121434216
32ATMp.Pro2829LeuVAR_010880
33ATMp.Arg2832CysVAR_010881rs587779872
34ATMp.Arg2849ProVAR_010882
35ATMp.Ser2855ArgVAR_010883rs780905851
36ATMp.Gly2867ArgVAR_010886
37ATMp.Glu2904GlyVAR_010889rs786202826
38ATMp.Arg2909GlyVAR_010890
39ATMp.Arg3008CysVAR_010893rs587782292
40ATMp.Leu1046ProVAR_077237
41ATMp.Gly2023ArgVAR_077238
42ATMp.Leu2068SerVAR_077239
43ATMp.Tyr2080AspVAR_077240
44ATMp.Tyr2627HisVAR_077241
45ATMp.Phe2834LeuVAR_077242
46ATMp.Asn3003AspVAR_077243

Clinvar genetic disease variations for Ataxia-Telangiectasia:

5 (show all 265)
id Gene Variation Type Significance SNP ID Assembly Location
1ATMNM_000051.3(ATM): c.1339C> T (p.Arg447Ter)SNVLikely pathogenic, Pathogenicrs587779815GRCh38Chr 11, 108250804: 108250804
2ATMNM_000051.3(ATM): c.1564_1565delGA (p.Glu522Ilefs)deletionPathogenicrs587779817GRCh38Chr 11, 108251029: 108251030
3ATMNM_000051.3(ATM): c.170G> A (p.Trp57Ter)SNVPathogenicrs587779818GRCh38Chr 11, 108227873: 108227873
4ATMNM_000051.3(ATM): c.2502dupA (p.Val835Serfs)duplicationPathogenicrs587779822GRCh38Chr 11, 108267206: 108267206
5ATMNM_000051.3(ATM): c.3372C> G (p.Tyr1124Ter)SNVLikely pathogenic, Pathogenicrs587779833GRCh38Chr 11, 108279578: 108279578
6ATMNM_000051.3(ATM): c.3802delG (p.Val1268Terfs)deletionPathogenicrs587779834GRCh38Chr 11, 108284282: 108284282
7ATMNM_000051.3(ATM): c.5228C> T (p.Thr1743Ile)SNVLikely pathogenicrs587779844GRCh38Chr 11, 108301698: 108301698
8ATMNM_000051.3(ATM): c.5290delC (p.Leu1764Tyrfs)deletionLikely pathogenic, Pathogenicrs587779846GRCh38Chr 11, 108301760: 108301760
9ATMNM_000051.3(ATM): c.5791delGinsCCT (p.Ala1931Profs)indelLikely pathogenic, Pathogenicrs587779851GRCh38Chr 11, 108310188: 108310188
10ATMNM_000051.3(ATM): c.5932G> T (p.Glu1978Ter)SNVPathogenicrs587779852GRCh38Chr 11, 108312424: 108312424
11ATMNM_000051.3(ATM): c.6100C> T (p.Arg2034Ter)SNVLikely pathogenic, Pathogenicrs532480170GRCh38Chr 11, 108316015: 108316015
12ATMNM_000051.3(ATM): c.6572+1G> ASNVLikely pathogenic, Pathogenicrs587779856GRCh38Chr 11, 108321421: 108321421
13ATMNM_000051.3(ATM): c.7630-2A> CSNVPathogenicrs587779866GRCh38Chr 11, 108331877: 108331877
14ATMNM_000051.3(ATM): c.7998dupT (p.Met2667Tyrfs)duplicationLikely pathogenic, Pathogenicrs587779869GRCh38Chr 11, 108333956: 108333956
15ATMNM_000051.3(ATM): c.8494C> T (p.Arg2832Cys)SNVLikely pathogenic, Pathogenicrs587779872GRCh38Chr 11, 108345818: 108345818
16ATMNM_000051.3(ATM): c.8786+1G> ASNVLikely pathogenic, Pathogenicrs17174393GRCh38Chr 11, 108353881: 108353881
17ATMNM_000051.3(ATM): c.5652dupA (p.Thr1885Asnfs)duplicationPathogenicrs587778077GRCh37Chr 11, 108175557: 108175557
18ATMNM_000051.3(ATM): c.8545C> T (p.Arg2849Ter)SNVPathogenicrs587778080GRCh37Chr 11, 108216596: 108216596
19ATMNM_000051.3(ATM): c.1027_1030delGAAAdeletionLikely pathogenic, Pathogenicrs587780612GRCh38Chr 11, 108247089: 108247092
20ATMNM_000051.3(ATM): c.7788G> A (p.Glu2596=)SNVPathogenicrs587780639GRCh38Chr 11, 108332037: 108332037
21ATMNM_000051.3(ATM): c.8266A> T (p.Lys2756Ter)SNVLikely pathogenic, Pathogenicrs371638537GRCh38Chr 11, 108335959: 108335959
22ATMNM_000051.3(ATM): c.9079dupA (p.Ser3027Lysfs)duplicationLikely pathogenic, Pathogenicrs587780645GRCh38Chr 11, 108365416: 108365416
23ATMNM_000051.3(ATM): c.6997dupA (p.Thr2333Asnfs)duplicationPathogenicrs587781299GRCh38Chr 11, 108327666: 108327666
24ATMNM_000051.3(ATM): c.1402_1403delAA (p.Lys468Glufs)deletionLikely pathogenic, Pathogenicrs587781347GRCh38Chr 11, 108250867: 108250868
25ATMNM_000051.3(ATM): c.2921+1G> ASNVLikely pathogenic, Pathogenicrs587781558GRCh37Chr 11, 108141874: 108141874
26ATMNM_000051.3(ATM): c.7913G> A (p.Trp2638Ter)SNVLikely pathogenic, Pathogenicrs377349459GRCh37Chr 11, 108203613: 108203613
27ATMNM_000051.3(ATM): c.1290_1291delTG (p.Cys430Terfs)deletionLikely pathogenic, Pathogenicrs587781598GRCh37Chr 11, 108121482: 108121483
28ATMNM_000051.3(ATM): c.2284_2285delCT (p.Leu762Valfs)deletionLikely pathogenic, Pathogenicrs587781658GRCh37Chr 11, 108128241: 108128242
29ATMNM_000051.3(ATM): c.7096G> T (p.Glu2366Ter)SNVLikely pathogenic, Pathogenicrs587781672GRCh37Chr 11, 108199754: 108199754
30ATMNM_000051.3(ATM): c.5908C> T (p.Gln1970Ter)SNVPathogenicrs587781722GRCh37Chr 11, 108181032: 108181032
31ATMNM_000051.3(ATM): c.5712dupA (p.Ser1905Ilefs)duplicationLikely pathogenic, Pathogenicrs587781730GRCh37Chr 11, 108178661: 108178661
32ATMNM_000051.3(ATM): c.3993+1G> ASNVPathogenicrs200196781GRCh37Chr 11, 108155201: 108155201
33ATMNM_000051.3(ATM): c.3894dupT (p.Ala1299Cysfs)duplicationPathogenicrs587781823GRCh37Chr 11, 108155101: 108155101
34ATMNM_000051.3(ATM): c.9023G> A (p.Arg3008His)SNVLikely pathogenicrs587781894GRCh37Chr 11, 108236087: 108236087
35ATMNM_000051.3(ATM): c.7517_7520delGAGA (p.Arg2506Thrfs)deletionPathogenicrs587781905GRCh38Chr 11, 108331445: 108331448
36ATMNM_000051.3(ATM): c.4776+2T> CSNVPathogenicrs587781927GRCh37Chr 11, 108164206: 108164206
37ATMNM_000051.3(ATM): c.4198A> T (p.Lys1400Ter)SNVPathogenicrs587781950GRCh37Chr 11, 108159792: 108159792
38ATMNM_000051.3(ATM): c.8185C> T (p.Gln2729Ter)SNVLikely pathogenic, Pathogenicrs587781967GRCh37Chr 11, 108206605: 108206605
39ATMNM_000051.3(ATM): c.3381_3384delTCAG (p.Gln1128Lysfs)deletionLikely pathogenic, Pathogenicrs587781971GRCh37Chr 11, 108150314: 108150317
40ATMNM_000051.3(ATM): c.790delT (p.Tyr264Ilefs)deletionPathogenicrs587781978GRCh37Chr 11, 108115642: 108115642
41ATMNM_000051.3(ATM): c.7951C> T (p.Gln2651Ter)SNVLikely pathogenic, Pathogenicrs587781994GRCh37Chr 11, 108204636: 108204636
42ATMNM_000051.3(ATM): c.2921+1G> TSNVLikely pathogenic, Pathogenicrs587781558GRCh37Chr 11, 108141874: 108141874
43ATMNM_000051.3(ATM): c.3994-2A> GSNVLikely pathogenic, Pathogenicrs587782276GRCh37Chr 11, 108158325: 108158325
44ATMNM_000051.3(ATM): c.9022C> T (p.Arg3008Cys)SNVLikely pathogenic, Pathogenicrs587782292GRCh37Chr 11, 108236086: 108236086
45ATMNM_000051.3(ATM): c.4370T> G (p.Leu1457Ter)SNVLikely pathogenic, Pathogenicrs373226793GRCh37Chr 11, 108160462: 108160462
46ATMNM_000051.3(ATM): c.1110C> G (p.Tyr370Ter)SNVPathogenicrs376170600GRCh38Chr 11, 108248977: 108248977
47ATMNM_000051.3(ATM): c.6976-2A> CSNVLikely pathogenicrs587782403GRCh38Chr 11, 108327643: 108327643
48ATMNM_000051.3(ATM): c.8432delA (p.Lys2811Serfs)deletionPathogenicrs587782558GRCh38Chr 11, 108345756: 108345756
49ATMNM_000051.3(ATM): c.8147T> C (p.Val2716Ala)SNVLikely pathogenic, Pathogenicrs587782652GRCh38Chr 11, 108335105: 108335105
50ATMNM_000051.3(ATM): c.8264_8268delATAAG (p.Tyr2755Cysfs)deletionPathogenicrs730881294GRCh38Chr 11, 108335957: 108335961
51ATMNM_000051.3(ATM): c.8418+5_8418+8delGTGAdeletionPathogenicrs730881295GRCh37Chr 11, 108214103: 108214106
52ATMNM_000051.3(ATM): c.368delA (p.Tyr123Leufs)deletionPathogenicrs730881296GRCh38Chr 11, 108235706: 108235706
53ATMNM_000051.3(ATM): c.2880delC (p.Leu961Cysfs)deletionLikely pathogenic, Pathogenicrs730881300GRCh38Chr 11, 108271105: 108271105
54ATMNM_000051.3(ATM): c.5320-5_5320-2delTCTAdeletionLikely pathogenic, Pathogenicrs730881310GRCh38Chr 11, 108302848: 108302851
55ATMNM_000051.3(ATM): c.8584+2T> CSNVLikely pathogenic, Pathogenicrs730881326GRCh37Chr 11, 108216637: 108216637
56ATMNM_000051.3(ATM): c.742C> T (p.Arg248Ter)SNVLikely pathogenic, Pathogenicrs730881336GRCh37Chr 11, 108115594: 108115594
57ATMNM_000051.3(ATM): c.2251-10T> GSNVLikely pathogenic, Pathogenicrs730881346GRCh38Chr 11, 108257471: 108257471
58ATMNM_000051.3(ATM): c.3154-2A> GSNVPathogenicrs730881357GRCh38Chr 11, 108272720: 108272720
59ATMNM_000051.3(ATM): c.1A> G (p.Met1Val)SNVPathogenicrs730881359GRCh37Chr 11, 108098352: 108098352
60ATMNM_000051.3(ATM): c.6095G> A (p.Arg2032Lys)SNVLikely pathogenic, Pathogenicrs139770721GRCh38Chr 11, 108315911: 108315911
61ATMNM_000051.3(ATM): c.6154G> A (p.Glu2052Lys)SNVLikely pathogenic, Pathogenicrs202206540GRCh38Chr 11, 108316069: 108316069
62ATMNM_000051.3(ATM): c.6679C> T (p.Arg2227Cys)SNVLikely pathogenic, Pathogenicrs564652222GRCh37Chr 11, 108196143: 108196143
63ATMNM_000051.3(ATM): c.4394T> C (p.Leu1465Pro)SNVLikely pathogenicrs730881391GRCh37Chr 11, 108160486: 108160486
64ATMNM_000051.3(ATM): c.5890A> T (p.Lys1964Ter)SNVLikely pathogenic, Pathogenicrs201963507GRCh37Chr 11, 108181014: 108181014
65ATMNM_000051.3(ATM): c.478_482delTCTCA (p.Ser160Alafs)deletionPathogenicrs587780624GRCh37Chr 11, 108106543: 108106547
66ATMNM_000051.3(ATM): c.4052delT (p.Leu1351Tyrfs)deletionPathogenicrs786202350GRCh37Chr 11, 108158385: 108158385
67ATMNM_000051.3(ATM): c.8036_8051del16 (p.Asn2679Serfs)deletionPathogenicrs587780640GRCh37Chr 11, 108205721: 108205736
68ATMNM_000051.3(ATM): c.2720_2723delGTGT (p.Cys907Terfs)deletionPathogenicrs786202695GRCh37Chr 11, 108139218: 108139221
69ATMNM_000051.3(ATM): c.8395_8404delTTTCAGTGCC (p.Phe2799Lysfs)deletionPathogenicrs786202800GRCh37Chr 11, 108214075: 108214084
70ATMNM_000051.3(ATM): c.8711A> G (p.Glu2904Gly)SNVLikely pathogenicrs786202826GRCh37Chr 11, 108224532: 108224532
71ATMNM_000051.3(ATM): c.8977C> T (p.Arg2993Ter)SNVLikely pathogenic, Pathogenicrs770641163GRCh37Chr 11, 108235935: 108235935
72ATMNM_000051.3(ATM): c.8293G> A (p.Gly2765Ser)SNVLikely pathogenic, Pathogenicrs748634900GRCh37Chr 11, 108213973: 108213973
73ATMNM_000051.3(ATM): c.1065+1G> TSNVLikely pathogenicrs201089102GRCh37Chr 11, 108117855: 108117855
74ATMNM_000051.3(ATM): c.6228delT (p.Leu2077Phefs)deletionPathogenicrs786203008GRCh38Chr 11, 108317402: 108317402
75ATMNM_000051.3(ATM): c.901+1G> ASNVPathogenicrs748840480GRCh37Chr 11, 108115754: 108115754
76ATMNM_000051.3(ATM): c.2789T> G (p.Leu930Ter)SNVLikely pathogenic, Pathogenicrs786203309GRCh37Chr 11, 108139287: 108139287
77ATMNM_000051.3(ATM): c.7000_7003delTACA (p.Tyr2334Glnfs)deletionLikely pathogenic, Pathogenicrs786203421GRCh37Chr 11, 108198396: 108198399
78ATMNM_000051.3(ATM): c.8786+1G> CSNVPathogenicrs17174393GRCh37Chr 11, 108224608: 108224608
79ATMNM_000051.3(ATM): c.2T> C (p.Met1Thr)SNVLikely pathogenic, Pathogenicrs786203606GRCh37Chr 11, 108098353: 108098353
80ATMNM_000051.3(ATM): c.2921+1G> CSNVLikely pathogenic, Pathogenicrs587781558GRCh38Chr 11, 108271147: 108271147
81ATMNM_000051.3(ATM): c.8851-?_*(1_?)deldeletionPathogenicGRCh37Chr 11, 108235809: 108236236
82ATMNM_000051.3(ATM): c.72+1G> ASNVLikely pathogenicrs786204088GRCh38Chr 11, 108227697: 108227697
83ATMNM_000051.3(ATM): c.5644C> T (p.Arg1882Ter)SNVLikely pathogenic, Pathogenicrs786204433GRCh38Chr 11, 108304822: 108304822
84ATMNM_000051.3(ATM): c.7927+5delGdeletionLikely pathogenicrs786204437GRCh38Chr 11, 108332905: 108332905
85ATMNM_000051.3(ATM): c.640delT (p.Ser214Profs)deletionLikely pathogenicrs786204543GRCh38Chr 11, 108244096: 108244096
86ATMNM_000051.3(ATM): c.3G> A (p.Met1Ile)SNVLikely pathogenic, Pathogenicrs781404312GRCh38Chr 11, 108227627: 108227627
87ATMNM_000051.3(ATM): c.802C> T (p.Gln268Ter)SNVLikely pathogenic, Pathogenicrs557012154GRCh37Chr 11, 108115654: 108115654
88ATMNM_000051.3(ATM): c.5188C> T (p.Arg1730Ter)SNVLikely pathogenic, Pathogenicrs764389018GRCh38Chr 11, 108301658: 108301658
89ATMNM_000051.3(ATM): c.8307G> A (p.Trp2769Ter)SNVLikely pathogenic, Pathogenicrs778269655GRCh38Chr 11, 108343260: 108343260
90ATMNM_000051.3(ATM): c.8876_8879delACTG (p.Asp2959Glyfs)deletionLikely pathogenic, Pathogenicrs786204726GRCh37Chr 11, 108235834: 108235837
91ATMNM_000051.3(ATM): c.1524delT (p.Gly509Glufs)deletionLikely pathogenicrs786204737GRCh38Chr 11, 108250989: 108250989
92ATMNM_000051.3(ATM): c.5515C> T (p.Gln1839Ter)SNVLikely pathogenicrs786204751GRCh38Chr 11, 108304693: 108304693
93ATMNM_000051.3(ATM): c.4111delG (p.Asp1371Ilefs)deletionLikely pathogenic, Pathogenicrs797045114GRCh37Chr 11, 108159705: 108159705
94ATMNM_000051.3(ATM): c.6049dupA (p.Ser2017Lysfs)duplicationPathogenicrs797045030GRCh37Chr 11, 108186592: 108186592
95ATMNM_000051.3(ATM): c.7926A> C (p.Arg2642Ser)SNVLikely pathogenicrs863224440GRCh38Chr 11, 108332899: 108332899
96ATMNM_000051.3(ATM): c.1284_1291delTAACTGTG (p.Asn429Alafs)deletionPathogenicrs863224460GRCh38Chr 11, 108250749: 108250756
97ATMNM_000051.3(ATM): c.140C> G (p.Ser47Ter)SNVPathogenicrs774185390GRCh37Chr 11, 108098570: 108098570
98ATMNM_000051.3(ATM): c.2413C> T (p.Arg805Ter)SNVPathogenicrs780619951GRCh38Chr 11, 108259022: 108259022
99ATMNM_000051.3(ATM): c.6750_6751insCTCA (p.Lys2253Hisfs)insertionPathogenicrs863224461GRCh38Chr 11, 108325487: 108325488
100ATMNM_000051.3(ATM): c.7240C> T (p.Gln2414Ter)SNVPathogenicrs863224462GRCh37Chr 11, 108199898: 108199898
101ATMNM_000051.3(ATM): c.748C> T (p.Arg250Ter)SNVPathogenicrs772821016GRCh37Chr 11, 108115600: 108115600
102ATMNM_000051.3(ATM): c.7985T> A (p.Val2662Asp)SNVPathogenicrs863224463GRCh37Chr 11, 108204670: 108204670
103ATMNM_000051.3(ATM): c.2113delT (p.Tyr705Thrfs)deletionPathogenicrs863224822GRCh38Chr 11, 108254028: 108254028
104ATMNM_000051.3(ATM): c.6415_6416delGA (p.Glu2139Ilefs)deletionLikely pathogenic, Pathogenicrs863225466GRCh38Chr 11, 108320021: 108320022
105ATMNM_000051.3(ATM): c.3284+1G> ASNVLikely pathogenicrs864622129GRCh37Chr 11, 108143580: 108143580
106ATMNM_000051.3(ATM): c.785T> A (p.Leu262Ter)SNVPathogenicrs864622163GRCh38Chr 11, 108244910: 108244910
107ATMNM_000051.3(ATM): c.4736dupA (p.Ile1581Asnfs)duplicationPathogenicrs864622164GRCh37Chr 11, 108164164: 108164164
108ATMNM_000051.3(ATM): c.8988-1G> ASNVLikely pathogenicrs730881386GRCh38Chr 11, 108365324: 108365324
109ATMNM_000051.3(ATM): c.7789-3T> GSNVPathogenicrs864622185GRCh37Chr 11, 108203486: 108203486
110ATMNM_000051.3(ATM): c.6115G> A (p.Glu2039Lys)SNVLikely pathogenicrs864622251GRCh37Chr 11, 108186757: 108186757
111ATMNM_000051.3(ATM): c.4804_4805delGT (p.Val1602Leufs)deletionPathogenicrs864622290GRCh37Chr 11, 108165681: 108165682
112ATMNM_000051.3(ATM): c.3403-?_*(1_?)deldeletionPathogenicGRCh38Chr 11, 108280995: 108365509
113ATMNM_000051.3(ATM): c.6650_6657delTTAGTTTT (p.Phe2217Serfs)deletionPathogenicrs864622326GRCh37Chr 11, 108196114: 108196121
114ATMNM_000051.3(ATM): c.1369C> T (p.Arg457Ter)SNVPathogenicrs749036865GRCh38Chr 11, 108250834: 108250834
115ATMNM_000051.3(ATM): c.3077+1G> ASNVLikely pathogenicrs192810283GRCh38Chr 11, 108271407: 108271407
116ATMNM_000051.3(ATM): c.6348-2A> GSNVLikely pathogenicrs864622367GRCh38Chr 11, 108319952: 108319952
117ATMNM_000051.3(ATM): c.824delT (p.Leu275Terfs)deletionPathogenicrs864622389GRCh38Chr 11, 108244949: 108244949
118ATMNM_000051.3(ATM): c.185+1G> ASNVLikely pathogenicrs112805604GRCh37Chr 11, 108098616: 108098616
119ATMNM_000051.3(ATM): c.1914_1929dup16 (p.Ser644Argfs)duplicationPathogenicrs864622415GRCh37Chr 11, 108124556: 108124571
120ATMNM_000051.3(ATM): c.7010_7011delGT (p.Cys2337Serfs)deletionPathogenicrs864622416GRCh37Chr 11, 108198406: 108198407
121ATMNM_000051.3(ATM): c.4588G> T (p.Glu1530Ter)SNVPathogenicrs864622479GRCh38Chr 11, 108292770: 108292770
122ATMNM_000051.3(ATM): c.3663G> A (p.Trp1221Ter)SNVPathogenicrs864622490GRCh38Chr 11, 108282796: 108282796
123ATMNM_000051.3(ATM): c.7705_7706delGA (p.Asp2569Terfs)deletionLikely pathogenic, Pathogenicrs759965045GRCh38Chr 11, 108331954: 108331955
124ATMNM_000051.3(ATM): c.1607+1G> TSNVLikely pathogenic, Pathogenicrs772926890GRCh38Chr 11, 108251073: 108251073
125ATMNM_000051.3(ATM): c.7928-2A> TSNVLikely pathogenicrs864622610GRCh37Chr 11, 108204611: 108204611
126ATMNM_000051.3(ATM): c.6404_6405insTT (p.Arg2136Terfs)insertionLikely pathogenic, Pathogenicrs864622649GRCh37Chr 11, 108190737: 108190738
127ATMNM_000051.3(ATM): c.5015delG (p.Gly1672Glufs)deletionPathogenicrs864622662GRCh38Chr 11, 108299723: 108299723
128ATMNM_000051.3(ATM): c.8873_8874delTT (p.Phe2958Terfs)deletionPathogenicrs864622669GRCh38Chr 11, 108365104: 108365105
129ATMNM_000051.3(ATM): c.4735C> T (p.Gln1579Ter)SNVLikely pathogenic, Pathogenicrs869312755GRCh38Chr 11, 108293436: 108293436
130ATMNM_000051.3(ATM): c.5762+1G> TSNVLikely pathogenicrs869312756GRCh37Chr 11, 108178712: 108178712
131ATMNM_000051.3(ATM): c.2455T> C (p.Cys819Arg)SNVLikely pathogenicrs775644968GRCh37Chr 11, 108129791: 108129791
132ATMNM_000051.3(ATM): c.4098_4099delTG (p.Cys1366Terfs)deletionLikely pathogenic, Pathogenicrs876658248GRCh37Chr 11, 108158431: 108158432
133ATMNM_000051.3(ATM): c.5549delT (p.Leu1850Tyrfs)deletionLikely pathogenic, Pathogenicrs876658287GRCh37Chr 11, 108175454: 108175454
134ATMNM_000051.3(ATM): c.7886_7890delTATTA (p.Ile2629Serfs)deletionPathogenicrs587776548GRCh37Chr 11, 108203586: 108203590
135ATMNM_000051.3(ATM): c.7088delA (p.Lys2363Argfs)deletionPathogenicrs876658512GRCh37Chr 11, 108198484: 108198484
136ATMNM_000051.3(ATM): c.5798G> A (p.Trp1933Ter)SNVLikely pathogenic, Pathogenicrs876658740GRCh37Chr 11, 108180922: 108180922
137ATMNM_000051.3(ATM): c.331+5G> ASNVLikely pathogenic, Pathogenicrs752135143GRCh37Chr 11, 108100055: 108100055
138ATMNM_000051.3(ATM): c.756_757delTG (p.Cys252Terfs)deletionLikely pathogenic, Pathogenicrs876659003GRCh37Chr 11, 108115608: 108115609
139ATMNM_000051.3(ATM): c.3078-1G> ASNVLikely pathogenic, Pathogenicrs750663117GRCh37Chr 11, 108143258: 108143258
140ATMNM_000051.3(ATM): c.2023C> T (p.Gln675Ter)SNVLikely pathogenic, Pathogenicrs777849257GRCh37Chr 11, 108124665: 108124665
141ATMNM_000051.3(ATM): c.3935dupG (p.Glu1313Argfs)duplicationLikely pathogenic, Pathogenicrs876659672GRCh37Chr 11, 108155142: 108155142
142ATMNM_000051.3(ATM): c.9019G> T (p.Glu3007Ter)SNVLikely pathogenic, Pathogenicrs876660382GRCh37Chr 11, 108236083: 108236083
143ATMNM_000051.3(ATM): c.8802delC (p.Met2935Trpfs)deletionLikely pathogenic, Pathogenicrs876660567GRCh37Chr 11, 108225553: 108225553
144ATMNM_000051.3(ATM): c.1240C> T (p.Gln414Ter)SNVPathogenicrs866521873GRCh38Chr 11, 108250705: 108250705
145ATMNM_000051.3(ATM): c.192delA (p.Leu64Phefs)deletionLikely pathogenic, Pathogenicrs878853490GRCh37Chr 11, 108099911: 108099911
146ATMNM_000051.3(ATM): c.2466+2T> ASNVLikely pathogenicrs878853495GRCh38Chr 11, 108259077: 108259077
147ATMNM_000051.3(ATM): c.289delA (p.Ile97Serfs)deletionPathogenicrs878853497GRCh38Chr 11, 108229281: 108229281
148ATMNM_000051.3(ATM): c.4396C> T (p.Arg1466Ter)SNVPathogenicrs730881369GRCh38Chr 11, 108289761: 108289761
149ATMNM_000051.3(ATM): c.5203dupA (p.Thr1735Asnfs)duplicationPathogenicrs878853518GRCh37Chr 11, 108172400: 108172400
150ATMNM_000051.3(ATM): c.5443delG (p.Asp1815Thrfs)deletionPathogenicrs878853522GRCh38Chr 11, 108302976: 108302976
151ATMNM_000051.3(ATM): c.5549T> A (p.Leu1850Ter)SNVPathogenicrs878853525GRCh38Chr 11, 108304727: 108304727
152ATMNM_000051.3(ATM): c.6239_6240delAT (p.Tyr2080Phefs)deletionPathogenicrs878853529GRCh38Chr 11, 108317413: 108317414
153ATMNM_000051.3(ATM): c.6373delC (p.His2125Metfs)deletionPathogenicrs878853530GRCh38Chr 11, 108319979: 108319979
154ATMNM_000051.3(ATM): c.6667delA (p.Ile2223Serfs)deletionPathogenicrs878853533GRCh38Chr 11, 108325404: 108325404
155ATMNM_000051.3(ATM): c.6916_6917delAG (p.Leu2307Cysfs)deletionPathogenicrs878853535GRCh38Chr 11, 108326166: 108326167
156ATMNM_000051.3(ATM): c.7091delC (p.Ala2364Glufs)deletionPathogenicrs878853538GRCh38Chr 11, 108329022: 108329022
157ATMNM_000051.3(ATM): c.7563C> G (p.Tyr2521Ter)SNVPathogenicrs772228129GRCh38Chr 11, 108331491: 108331491
158ATMNM_000051.3(ATM): c.8269-?_8671+?deldeletionPathogenicChr na, -1: -1
159ATMNM_000051.3(ATM): c.2467-?_8850+?dupduplicationLikely pathogenicChr na, -1: -1
160ATMNM_000051.3(ATM): c.2839-?_4109+?deldeletionPathogenicChr na, -1: -1
161ATMNC_000011.10: g.(?_108365082)_(108365508_?)deldeletionPathogenicGRCh38Chr 11, 108365082: 108365508
162ATMNC_000011.10: g.(?_108365082)_(108365508_?)dupduplicationLikely pathogenicGRCh37Chr 11, 108235809: 108236235
163ATMc.2851-10T> Gundetermined variantPathogenicChr na, -1: -1
164ATMc.2810_2811insCTAGundetermined variantPathogenicChr na, -1: -1
165ATMc.7327C> Tundetermined variantPathogenicChr na, -1: -1
166ATMc.7926A> Cundetermined variantPathogenicChr na, -1: -1
167ATMc.5908C> Tundetermined variantPathogenicChr na, -1: -1
168ATMc.7449G> Aundetermined variantPathogenicChr na, -1: -1
169ATMc.4507C> Tundetermined variantPathogenicChr na, -1: -1
170ATMc.8264_8268del5undetermined variantPathogenicChr na, -1: -1
171ATMc.1120C> Tundetermined variantPathogenicChr na, -1: -1
172ATMc.4852C> Tundetermined variantPathogenicChr na, -1: -1
173ATMc.8201_8212del11ins6undetermined variantPathogenicChr na, -1: -1
174ATMc.3576G> Aundetermined variantPathogenicChr na, -1: -1
175ATMc.3894dupTundetermined variantPathogenicChr na, -1: -1
176ATMc.7883_7887del5undetermined variantPathogenicChr na, -1: -1
177ATMc.5390+2T> Cundetermined variantPathogenicChr na, -1: -1
178ATMc.103C> Tundetermined variantPathogenicChr na, -1: -1
179ATMc.3245_3247delATCinsTGATundetermined variantPathogenicChr na, -1: -1
180ATMc.8313-2A> Cundetermined variantPathogenicChr na, -1: -1
181ATMc.6095G> Aundetermined variantPathogenicChr na, -1: -1
182ATMc.7010_7011delundetermined variantPathogenicChr na, -1: -1
183ATMc.5932G> Tundetermined variantPathogenicChr na, -1: -1
184ATMc.2T> Cundetermined variantPathogenicChr na, -1: -1
185ATMc.1563delAGundetermined variantPathogenicChr na, -1: -1
186ATMc.2249ins9undetermined variantPathogenicChr na, -1: -1
187ATMc.2284_2285delCTundetermined variantPathogenicChr na, -1: -1
188ATMc.2639del200ntundetermined variantPathogenicChr na, -1: -1
189ATMc.3802delGundetermined variantPathogenicChr na, -1: -1
190ATMc.6404_6405insTTundetermined variantPathogenicChr na, -1: -1
191ATMc.7271T> Gundetermined variantPathogenicChr na, -1: -1
192ATMc.8786+1G> Aundetermined variantPathogenicChr na, -1: -1
193ATMc.5395-12A> Gundetermined variantPathogenicChr na, -1: -1
194ATMundetermined variantPathogenicChr na, -1: -1
195ATMc.9372+1G> Aundetermined variantPathogenicChr na, -1: -1
196ATMNM_000051.3(ATM): c.8578_8580delTCT (p.Ser2860del)deletionPathogenicrs786203976GRCh38Chr 11, 108345902: 108345904
197ATMNM_000051.3(ATM): c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del)deletionLikely pathogenic, Pathogenicrs587776547GRCh38Chr 11, 108331887: 108331895
198ATMNM_000051.3(ATM): c.7279_7284delCTTAGG (p.Leu2427_Arg2428del)deletionPathogenicrs796051856GRCh38Chr 11, 108329210: 108329215
199ATMNM_000051.3(ATM): c.5762_5763insNG_009830.1: g.91138_91274SNVPathogenicrs774925473GRCh37Chr 11, 108179837: 108179837
200ATMNM_000051.3(ATM): c.7271T> G (p.Val2424Gly)SNVLikely pathogenic, Pathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
201ATMNM_000051.3(ATM): c.103C> T (p.Arg35Ter)SNVLikely pathogenic, Pathogenicrs55861249GRCh37Chr 11, 108098533: 108098533
202ATMNM_000051.3(ATM): c.9139C> T (p.Arg3047Ter)SNVPathogenicrs121434219GRCh37Chr 11, 108236203: 108236203
203ATMNM_000051.3(ATM): c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro)indelLikely pathogenic, Pathogenicrs267606668GRCh37Chr 11, 108203575: 108203576
204ATMNM_000051.3(ATM): c.3245_3247delATCinsTGAT (p.His1082Leufs)indelPathogenicrs587776549GRCh38Chr 11, 108272813: 108272815
205ATMNM_000051.3(ATM): c.7988_7991delTTGT (p.Val2663Alafs)deletionPathogenicrs587776550GRCh38Chr 11, 108333946: 108333949
206ATMNM_000051.3(ATM): c.3576G> A (p.Lys1192=)SNVPathogenicrs587776551GRCh38Chr 11, 108281168: 108281168
207ATMNM_000051.3(ATM): c.7327C> T (p.Arg2443Ter)SNVLikely pathogenic, Pathogenicrs121434220GRCh37Chr 11, 108200960: 108200960
208ATMNM_000051.3(ATM): c.2839-581_2839-578delGTAAdeletionPathogenicrs587776552GRCh38Chr 11, 108270483: 108270486
209ATMNM_000051.3(ATM): c.2250G> A (p.Lys750=)SNVLikely pathogenic, Pathogenicrs1137887GRCh38Chr 11, 108256340: 108256340
210ATMNM_000051.3: c.8671+2T> CSNVLikely pathogenicChr na, -1: -1
211ATMNM_000051.3: c.7089+2T> GSNVLikely pathogenicChr na, -1: -1
212ATMNM_000051.3: c.3994-1G> TSNVLikely pathogenicChr na, -1: -1
213ATMNM_000051.3: c.2999dupAduplicationLikely pathogenicChr na, -1: -1
214ATMNM_000051.3: c.9064dupGduplicationLikely pathogenicChr na, -1: -1
215ATMNM_000051.3: c.3315dupCduplicationLikely pathogenicChr na, -1: -1
216ATMNM_000051.3: c.5319+1G> TSNVLikely pathogenicChr na, -1: -1
217ATMNM_000051.3: c.4246C> TSNVLikely pathogenicChr na, -1: -1
218ATMNM_000051.3: c.5130_5131delGAinsACindelLikely pathogenicChr na, -1: -1
219ATMNM_000051.3: c.2165dupTduplicationLikely pathogenicChr na, -1: -1
220ATMNM_000051.3: c.877A> TSNVLikely pathogenicChr na, -1: -1
221ATMNM_000051.3: c.3351_3354delAACAdeletionLikely pathogenicChr na, -1: -1
222ATMNM_000051.3: c.6095+2T> CSNVLikely pathogenicChr na, -1: -1
223ATMNM_000051.3: c.8851-1G> TSNVLikely pathogenicChr na, -1: -1
224ATMNM_000051.3: c.5320-4_5323del8deletionLikely pathogenicChr na, -1: -1
225ATMNM_000051.3: c.3880dupAduplicationLikely pathogenicChr na, -1: -1
226ATMNM_000051.3: c.2377-2A> GSNVLikely pathogenicChr na, -1: -1
227ATMNM_000051.3: c.3068delGdeletionLikely pathogenicChr na, -1: -1
228ATMNM_000051.3: c.7880delAdeletionLikely pathogenicChr na, -1: -1
229ATMNM_000051.3: c.2135C> GSNVLikely pathogenicChr na, -1: -1
230ATMNM_000051.3: c.5554C> TSNVLikely pathogenicChr na, -1: -1
231ATMNM_000051.3: c.8418+1G> ASNVLikely pathogenicChr na, -1: -1
232ATMNM_000051.3: c.588delAdeletionLikely pathogenicChr na, -1: -1
233ATMNM_000051.3: c.1741_1742delTTdeletionLikely pathogenicChr na, -1: -1
234ATMNM_000051.3: c.5460dupAduplicationLikely pathogenicChr na, -1: -1
235ATMNM_000051.3: c.2542G> TSNVLikely pathogenicChr na, -1: -1
236ATMNM_000051.3: c.8814_8824del11deletionLikely pathogenicChr na, -1: -1
237ATMNM_000051.3: c.7166C> GSNVLikely pathogenicChr na, -1: -1
238ATMNM_000051.3: c.4732C> TSNVLikely pathogenicChr na, -1: -1
239ATMNM_000051.3: c.1655delCdeletionLikely pathogenicChr na, -1: -1
240ATMNM_000051.3: c.3993+1G> TSNVLikely pathogenicChr na, -1: -1
241ATMNM_000051.3: c.6482_6483dupGCduplicationLikely pathogenicChr na, -1: -1
242ATMNM_000051.3: c.4776+2T> ASNVLikely pathogenicChr na, -1: -1
243ATMNM_000051.3: c.2606_2607delCAdeletionLikely pathogenicChr na, -1: -1
244ATMNM_000051.3: c.2377_2378dupAAduplicationLikely pathogenicChr na, -1: -1
245ATMNM_000051.3: c.3541A> TSNVLikely pathogenicChr na, -1: -1
246ATMNM_000051.3: c.7767delAdeletionLikely pathogenicChr na, -1: -1
247ATMNM_000051.3: c.8098A> TSNVLikely pathogenicChr na, -1: -1
248ATMNM_000051.3: c.5763-2A> TSNVLikely pathogenicChr na, -1: -1
249ATMNM_000051.3: c.3231dupTduplicationLikely pathogenicChr na, -1: -1
250ATMNM_000051.3: c.3990delAdeletionLikely pathogenicChr na, -1: -1
251ATMNM_000051.3: c.5351delAdeletionLikely pathogenicChr na, -1: -1
252ATMNM_000051.3: c.6347+1G> ASNVLikely pathogenicChr na, -1: -1
253ATMNM_000051.3: c.3603delTdeletionLikely pathogenicChr na, -1: -1
254ATMNM_000051.3: c.4019_4029del11deletionLikely pathogenicChr na, -1: -1
255ATMNM_000051.3: c.3747-2A> GSNVLikely pathogenicChr na, -1: -1
256ATMNM_000051.3: c.3577-1G> CSNVLikely pathogenicChr na, -1: -1
257ATMNM_000051.3: c.6040G> TSNVLikely pathogenicChr na, -1: -1
258ATMNM_000051.3: c.2125delAdeletionLikely pathogenicChr na, -1: -1
259ATMNM_000051.3: c.2877C> GSNVLikely pathogenicChr na, -1: -1
260ATMNM_000051.3: c.1856delAdeletionLikely pathogenicChr na, -1: -1
261ATMNM_000051.3: c.6348-1G> ASNVLikely pathogenicChr na, -1: -1
262ATMNM_000051.3: c.1803-2A> GSNVLikely pathogenicChr na, -1: -1
263ATMNM_000051.3: c.5005+1G> TSNVLikely pathogenicChr na, -1: -1
264ATMNM_000051.3: c.4695delTdeletionLikely pathogenicChr na, -1: -1
265ATMNM_000051.3(ATM): c.6200C> A (p.Ala2067Asp)SNVPathogenicrs397514577GRCh37Chr 11, 108188101: 108188101

Expression for genes affiliated with Ataxia-Telangiectasia

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

Pathways for genes affiliated with Ataxia-Telangiectasia

About this section

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

(show all 44)
idSuper pathwaysScoreTop Affiliating Genes
110.0CHEK2, TP53
2
Show member pathways
9.8ATM, CHEK2, TP53
39.7ATM, NBN, RAD50
49.5ATM, ATR, BRCA1, TP53
59.5ATM, BRCA1, CDKN1A
69.4ATM, ATR, CDKN1A, TP53
7
Show member pathways
9.4ATM, ATR, CDKN1A, TP53
89.4BRCA1, GADD45A, TP53
99.2BRCA1, CDKN1A, GADD45A
10
Show member pathways
9.1ATM, CDKN1A, GADD45A, TP53
119.0CDKN1A, GADD45A, PCNA, TP53
12
Show member pathways
9.0CDKN1A, GADD45A, PCNA, TP53
13
Show member pathways
9.0ATM, ATR, CHEK1, CHEK2, TP53
14
Show member pathways
9.0ATM, ATR, CHEK1, CHEK2, TP53
15
Show member pathways
9.0ATM, ATR, CHEK1, CHEK2, TP53
168.8BRCA1, DCLRE1C, NBN, PRKDC, RAD50
17
Show member pathways
8.8BRCA1, CDKN1A, CHEK1, CHEK2
188.8ATM, CDKN1A, H2AFX, TP53
19
Show member pathways
8.5ATM, CDKN1A, GADD45A, PCNA, RPA2, TP53
208.4ATM, ATR, BRCA1, NBN, PCNA, PRKDC
218.3ATM, ATR, CDKN1A, CHEK1, CHEK2, PCNA
228.3ATM, ATR, BRCA1, CDKN1A, GADD45A, PCNA
238.1CDKN1A, CHEK1, NPAT, PCNA, PRKDC, RPA2
24
Show member pathways
8.0ATM, ATR, BRCA1, H2AFX, NBN, RAD50
25
Show member pathways
8.0ATM, ATR, BRCA1, CHEK1, NBN, PCNA
26
Show member pathways
7.8ATM, ATR, CDKN1A, CHEK1, CHEK2, GADD45A
277.8ATM, ATR, BRCA1, CHEK1, CHEK2, GADD45A
28
Show member pathways
7.7ATM, ATR, CDKN1A, H2AFX, NBN, RAD50
297.6ATM, ATR, CHEK1, CHEK2, GADD45A, H2AFX
30
Show member pathways
7.5ATM, ATR, CDKN1A, CHEK1, CHEK2, GADD45A
31
Show member pathways
7.5ATM, ATR, BRCA1, CHEK1, CHEK2, GADD45A
32
Show member pathways
7.4ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
33
Show member pathways
7.3ATM, ATR, BRCA1, CHEK2, H2AFX, NBN
347.3ATM, BRCA1, CDKN1A, CHEK1, CHEK2, GADD45A
357.2ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
36
Show member pathways
7.0ATM, BRCA1, CHEK2, DCLRE1C, H2AFX, NBN
37
Show member pathways
6.5ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
38
Show member pathways
6.3ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
39
Show member pathways
6.1ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
40
Show member pathways
6.1ATM, BRCA1, CDKN1A, CHEK1, CHEK2, GADD45A
41
Show member pathways
5.9ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
42
Show member pathways
5.7ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2
43
Show member pathways
5.7ATM, ATR, BRCA1, CHEK1, CHEK2, DCLRE1C
444.5ATM, ATR, BRCA1, CDKN1A, CHEK1, CHEK2

GO Terms for genes affiliated with Ataxia-Telangiectasia

About this section

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1Mre11 complexGO:003087010.6NBN, RAD50
2PCNA-p21 complexGO:007055710.5CDKN1A, PCNA
3nonhomologous end joining complexGO:007041910.4DCLRE1C, PRKDC
4PML bodyGO:00166059.9ATR, CHEK2, NBN, RPA2, TP53
5chromosomeGO:00056949.6ATR, BRCA1, H2AFX
6site of double-strand breakGO:00358619.5H2AFX, NBN, RAD50, RPA2
7chromatinGO:00007859.1APTX, CHEK1, H2AFX, RPA2
8replication forkGO:00056578.9CHEK1, H2AFX, NBN, TP53
9nuclear chromosome, telomeric regionGO:00007848.9ATM, ATR, DCLRE1C, NBN, PCNA, PRKDC
10condensed nuclear chromosomeGO:00007948.8BRCA1, CHEK1, H2AFX, RAD50
11nuclear chromatinGO:00007908.4APTX, H2AFX, RAD50, TP53
12chromosome, telomeric regionGO:00007818.4ATM, CHEK1, CHEK2, H2AFX, RPA2, TP53BP1
13nucleusGO:00056345.2APTX, ATM, BRCA1, CDKN1A, CHEK1, CHEK2
14nucleoplasmGO:00056543.9APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1establishment of macromolecular complex localization to telomereGO:009769510.8ATM, ATR
2establishment of RNA localization to telomereGO:009769410.8ATM, ATR
3positive regulation of telomerase catalytic core complex assemblyGO:190488410.8ATM, ATR
4determination of adult lifespanGO:000834010.7ATM, TP53
5DNA damage response, signal transduction by p53 class mediatorGO:003033010.6NBN, TP53
6positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.5ATM, ATR
7mitotic G1 DNA damage checkpointGO:003157110.5RPA2, TP53
8DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.5BRCA1, TP53
9telomeric 3 overhang formationGO:003186010.4NBN, RAD50
10negative regulation of telomere cappingGO:190435410.4ATM, NBN, RAD50
11cellular response to UVGO:003464410.4ATR, PCNA, TP53
12positive regulation of telomere maintenanceGO:003220610.3NBN, RAD50
13signal transduction in response to DNA damageGO:004277010.3CHEK2, GADD45A
14cellular response to X-rayGO:007148110.3ATM, TP53BP1
15centrosome cycleGO:000709810.2BRCA1, GADD45A
16response to gamma radiationGO:001033210.2CHEK2, PRKDC, TP53
17V(D)J recombinationGO:003315110.1ATM, DCLRE1C, PRKDC
18mitotic cell cycle arrestGO:007185010.1CDKN1A, GADD45A
19interstrand cross-link repairGO:003629710.1ATR, DCLRE1C, RPA2
20intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.0ATM, BRCA1, CHEK2, PRKDC
21DNA damage induced protein phosphorylationGO:000697510.0ATM, CHEK1, CHEK2
22telomere maintenance via recombinationGO:000072210.0PCNA, RAD50, RPA2
23peptidyl-serine phosphorylationGO:001810510.0ATM, ATR, CHEK2, PRKDC
24positive regulation of kinase activityGO:00336749.9NBN, RAD50
25protein sumoylationGO:00169259.9BRCA1, PCNA, TP53, TP53BP1
26positive regulation of reactive oxygen species metabolic processGO:20003799.8CDKN1A, GADD45A, TP53
27intrinsic apoptotic signaling pathwayGO:00971939.8CDKN1A, NBN, TP53
28cellular response to gamma radiationGO:00714809.8ATM, ATR, H2AFX
29regulation of cellular response to heatGO:19000349.8ATM, ATR, RPA2
30cellular response to ionizing radiationGO:00714799.8CDKN1A, GADD45A, TP53
31G1/S transition of mitotic cell cycleGO:00000829.8CDKN1A, PCNA, RPA2
32DNA synthesis involved in DNA repairGO:00007319.8ATM, BRCA1, NBN, RAD50
33DNA double-strand break processingGO:00007299.7ATM, BRCA1, NBN, RAD50
34strand displacementGO:00007329.7ATM, BRCA1, NBN, RAD50
35positive regulation of DNA repairGO:00457399.7BRCA1, H2AFX, PCNA
36nucleic acid phosphodiester bond hydrolysisGO:00903059.4APTX, DCLRE1C, RAD50
37telomere maintenanceGO:00007239.3DCLRE1C, NBN, PCNA, RAD50, RPA2
38cell cycle arrestGO:00070509.3ATM, CDKN1A, GADD45A, NBN, TP53
39DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.2ATM, CDKN1A, CHEK2, GADD45A, PCNA, TP53
40replicative senescenceGO:00903999.1ATM, ATR, CDKN1A, CHEK1, CHEK2, TP53
41G2/M transition of mitotic cell cycleGO:00000869.0CDKN1A, CHEK1, CHEK2, GADD45A
42double-strand break repair via homologous recombinationGO:00007248.9ATM, BRCA1, H2AFX, NBN, RAD50, RPA2
43DNA replicationGO:00062608.6ATM, ATR, BRCA1, CHEK1, NBN, RAD50
44DNA damage checkpointGO:00000778.3ATR, CHEK1, CHEK2, H2AFX, NBN, TP53BP1
45double-strand break repairGO:00063028.2BRCA1, CHEK2, DCLRE1C, H2AFX, NBN, PRKDC
46response to ionizing radiationGO:00102128.2ATM, BRCA1, DCLRE1C, H2AFX, PRKDC
47regulation of signal transduction by p53 class mediatorGO:19017968.1ATM, ATR, BRCA1, CHEK1, CHEK2, NBN
48double-strand break repair via nonhomologous end joiningGO:00063038.0ATM, BRCA1, DCLRE1C, H2AFX, NBN, PRKDC
49DNA repairGO:00062818.0ATM, ATR, CHEK1, GADD45A, H2AFX, RAD50
50cellular response to DNA damage stimulusGO:00069746.8APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1MutLalpha complex bindingGO:003240510.8ATR, PCNA
2DNA-dependent protein kinase activityGO:000467710.8ATM, PRKDC
3p53 bindingGO:000203910.3TP53, TP53BP1, TRIM29
4single-stranded DNA endodeoxyribonuclease activityGO:000001410.3DCLRE1C, RAD50
5double-stranded DNA bindingGO:000369010.2APTX, PRKDC, TP53
6protein N-terminus bindingGO:00474859.6APTX, ATM, NBN, NPAT, RPA2, TP53
7protein kinase activityGO:00046729.5ATM, ATR, CHEK1, CHEK2, PRKDC
8protein serine/threonine kinase activityGO:00046749.5ATM, ATR, CHEK1, CHEK2, PRKDC
9ubiquitin protein ligase bindingGO:00316259.3BRCA1, CDKN1A, CHEK2, RPA2, TP53
10enzyme bindingGO:00198998.5BRCA1, H2AFX, PCNA, PRKDC, RPA2, TP53
11damaged DNA bindingGO:00036848.2APTX, BRCA1, DCLRE1C, H2AFX, NBN, PCNA
12protein bindingGO:00055154.0APTX, ATM, ATR, BRCA1, CDKN1A, CHEK1

Sources for Ataxia-Telangiectasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet