ATLD1
MCID: ATX040
MIFTS: 49

Ataxia-Telangiectasia-Like Disorder 1 (ATLD1)

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 1

MalaCards integrated aliases for Ataxia-Telangiectasia-Like Disorder 1:

Name: Ataxia-Telangiectasia-Like Disorder 1 57 74 29 6 72
Ataxia-Telangiectasia-Like Disorder 59 74 29 13 55 6 40
Atld 57 59 74
Atld1 57 74

Characteristics:

Orphanet epidemiological data:

59
ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood


HPO:

32
ataxia-telangiectasia-like disorder 1:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



External Ids:

UMLS via Orphanet 73 C1858391 C1859598
Orphanet 59 ORPHA251347
UMLS 72 C4012790

Summaries for Ataxia-Telangiectasia-Like Disorder 1

OMIM : 57 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). (604391)

MalaCards based summary : Ataxia-Telangiectasia-Like Disorder 1, also known as ataxia-telangiectasia-like disorder, is related to ataxia-telangiectasia and nijmegen breakage syndrome, and has symptoms including gait ataxia and dysdiadochokinesis. An important gene associated with Ataxia-Telangiectasia-Like Disorder 1 is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease), and among its related pathways/superpathways are DNA Damage Response and DNA Double Strand Break Response. Affiliated tissues include eye, skin and brain, and related phenotypes are dysarthria and chorea

UniProtKB/Swiss-Prot : 74 Ataxia-telangiectasia-like disorder 1: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis.

Related Diseases for Ataxia-Telangiectasia-Like Disorder 1

Diseases in the Ataxia-Telangiectasia family:

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

Diseases related to Ataxia-Telangiectasia-Like Disorder 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia 30.3 NBN MRE11
2 nijmegen breakage syndrome 30.2 NBN MRE11
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.5
4 ataxia-telangiectasia-like disorder 2 11.3
5 apraxia 10.5
6 aceruloplasminemia 10.4
7 autosomal recessive disease 10.4
8 oculomotor apraxia 10.4
9 ataxia and polyneuropathy, adult-onset 10.3
10 telangiectasis 10.3
11 pathologic nystagmus 10.3
12 cerebellar degeneration 10.3
13 microcephaly 10.2
14 spinocerebellar ataxia 29 10.1
15 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.1
16 strabismus 10.1
17 ocular motor apraxia 10.1
18 lung cancer susceptibility 3 10.1
19 alacrima, achalasia, and mental retardation syndrome 10.1
20 allergic hypersensitivity disease 10.1
21 amenorrhea 10.1
22 autosomal dominant cerebellar ataxia 10.1
23 hypogonadism 10.1
24 adenocarcinoma 10.1
25 dystonia 10.1
26 hypogonadotropism 10.1
27 mechanical strabismus 10.1
28 spastic paraparesis 10.1
29 lymphedema 10.1
30 rare ataxia 10.1
31 alpha-thalassemia/mental retardation syndrome, x-linked 9.9 NBN MRE11
32 hereditary breast ovarian cancer syndrome 9.8 NBN MRE11
33 werner syndrome 9.7 NBN MRE11
34 fanconi anemia, complementation group a 9.5 NBN MRE11

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia-Like Disorder 1:



Diseases related to Ataxia-Telangiectasia-Like Disorder 1

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder 1

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder 1:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
3 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
4 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
5 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
6 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
7 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
8 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
9 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
10 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
11 cerebellar vermis hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001320
12 absent achilles reflex 59 32 frequent (33%) Frequent (79-30%) HP:0003438
13 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
14 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
15 dilated fourth ventricle 59 32 frequent (33%) Frequent (79-30%) HP:0002198
16 enlarged interhemispheric fissure 59 32 frequent (33%) Frequent (79-30%) HP:0100953
17 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
18 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
19 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
20 joint laxity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001388
21 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
22 dysdiadochokinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002075
23 sensorimotor neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007141
24 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
25 drooling 59 32 occasional (7.5%) Occasional (29-5%) HP:0002307
26 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
27 abnormality of ocular smooth pursuit 59 32 occasional (7.5%) Occasional (29-5%) HP:0000617
28 gaze-evoked nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000640
29 vertical nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0010544
30 small posterior fossa 59 32 occasional (7.5%) Occasional (29-5%) HP:0040010
31 dysmetric saccades 59 32 occasional (7.5%) Occasional (29-5%) HP:0000641
32 short stature 59 32 very rare (1%) Very rare (<4-1%) HP:0004322
33 ataxia 59 Very frequent (99-80%)
34 reduced tendon reflexes 59 Frequent (79-30%)
35 hyporeflexia 32 HP:0001265
36 distal amyotrophy 32 HP:0003693
37 lower limb spasticity 32 HP:0002061
38 hypometric saccades 32 HP:0000571
39 increased sensitivity to ionizing radiation 32 HP:0011133
40 telangiectasia 32 HP:0001009
41 impaired smooth pursuit 32 HP:0007772

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
chorea
gait ataxia
dystonia
dysdiadochokinesis
more
Head And Neck Eyes:
oculomotor apraxia
hypometric saccades
impaired smooth pursuit
gaze-evoked nystagmus

Laboratory Abnormalities:
cells show increased sensitivity to ionizing radiation
defective dna repair
chromosomal instability

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
distal muscle wasting, mild

Clinical features from OMIM:

604391

UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder 1:


gait ataxia, dysdiadochokinesis

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 1

Search Clinical Trials , NIH Clinical Center for Ataxia-Telangiectasia-Like Disorder 1

Genetic Tests for Ataxia-Telangiectasia-Like Disorder 1

Genetic tests related to Ataxia-Telangiectasia-Like Disorder 1:

# Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder 1 29 MRE11
2 Ataxia-Telangiectasia-Like Disorder 29

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

MalaCards organs/tissues related to Ataxia-Telangiectasia-Like Disorder 1:

41
Eye, Skin, Brain, Lung, Neutrophil, B Cells

Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show top 50) (show all 67)
# Title Authors PMID Year
1
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. 9 38 8 71
15269180 2004
2
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. 38 8 71
15574463 2005
3
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. 38 8 71
11371508 2001
4
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 38 8 71
10612394 1999
5
Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. 8 71
24332946 2014
6
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 8 71
22863007 2012
7
Ataxia without telangiectasia masquerading as benign hereditary chorea. 8 71
8684395 1996
8
A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. 8 71
8445618 1993
9
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 71
20050888 2010
10
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. 9 38
20087742 2010
11
A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation. 9 38
18575580 2008
12
Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm. 9 38
15234984 2004
13
The Drosophila Mre11/Rad50 complex is required to prevent both telomeric fusion and chromosome breakage. 9 38
15296753 2004
14
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. 9 38
12966088 2003
15
Human MRE11 is inactivated in mismatch repair-deficient cancers. 9 38
11850399 2002
16
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect. 38
31033087 2019
17
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. 38
30584599 2018
18
[Ataxia telangiectasia-like disorder -a child with a novel variant in MRE11A gene]. 38
28699156 2017
19
MRE11 stability is regulated by CK2-dependent interaction with R2TP complex. 38
28436950 2017
20
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. 38
29170652 2017
21
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? 38
24733832 2014
22
Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. 38
23912341 2013
23
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. 38
23436002 2013
24
DNA damage sensor MRE11 recognizes cytosolic double-stranded DNA and induces type I interferon by regulating STING trafficking. 38
23388631 2013
25
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. 38
23622410 2013
26
Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. 38
23080121 2012
27
Mre11 modulates the fidelity of fusion between short telomeres in human cells. 38
22139912 2012
28
Mre11 regulates CtIP-dependent double-strand break repair by interaction with CDK2. 38
22231403 2012
29
Oxidative stress in developmental brain disorders. 38
22411250 2012
30
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. 38
21227757 2011
31
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. 38
19732584 2009
32
Ataxias with autosomal, X-chromosomal or maternal inheritance. 38
19650351 2009
33
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 38
19409520 2009
34
The role of MRN in the S-phase DNA damage checkpoint is independent of its Ctp1-dependent roles in double-strand break repair and checkpoint signaling. 38
19211838 2009
35
Ataxia with oculomotor apraxia. 38
19073331 2008
36
DNA repair by the MRN complex: break it to make it. 38
18854148 2008
37
Mre11 dimers coordinate DNA end bridging and nuclease processing in double-strand-break repair. 38
18854158 2008
38
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. 38
18652530 2008
39
Ophthalmic features of ataxia telangiectasia-like disorder. 38
18083591 2008
40
Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. 38
18568480 2008
41
The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A. 38
17591703 2007
42
Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template. 38
17713585 2007
43
A subgroup of spinocerebellar ataxias defective in DNA damage responses. 38
17224243 2007
44
Developing master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repair. 38
17174478 2007
45
Mechanisms of disease: DNA repair defects and neurological disease. 38
17342192 2007
46
Spinocerebellar ataxia with ocular motor apraxia and DNA repair. 38
16961074 2006
47
Rad50S alleles of the Mre11 complex: questions answered and questions raised. 38
16857186 2006
48
Two-step activation of ATM by DNA and the Mre11-Rad50-Nbs1 complex. 38
16622404 2006
49
[Autosomal recessive cerebellar ataxias with oculomotor apraxia]. 38
16518257 2006
50
Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers. 38
16417627 2006

Variations for Ataxia-Telangiectasia-Like Disorder 1

ClinVar genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

6 (show top 50) (show all 310)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MRE11 NM_005591.3(MRE11): c.1897C> T (p.Arg633Ter) single nucleotide variant Pathogenic rs137852759 11:94170372-94170372 11:94437206-94437206
2 MRE11 NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys) single nucleotide variant Pathogenic rs137852762 11:94192632-94192632 11:94459466-94459466
3 MRE11 NM_005591.3(MRE11): c.630G> C (p.Trp210Cys) single nucleotide variant Pathogenic rs137852763 11:94209484-94209484 11:94476318-94476318
4 MRE11 NM_005591.3(MRE11): c.1726C> T (p.Arg576Ter) single nucleotide variant Pathogenic rs774277300 11:94180442-94180442 11:94447276-94447276
5 MRE11 NM_005591.3(MRE11): c.1447C> T (p.Arg483Ter) single nucleotide variant Pathogenic rs780001540 11:94192627-94192627 11:94459461-94459461
6 MRE11 NM_005591.3(MRE11): c.739dup (p.His247fs) duplication Pathogenic rs786203931 11:94204846-94204846 11:94471680-94471680
7 MRE11 NM_005591.3(MRE11): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs371077728 11:94200987-94200987 11:94467821-94467821
8 MRE11 NM_005591.3(MRE11): c.1047_1048del (p.Glu350fs) deletion Pathogenic 11:94201029-94201030 11:94467864-94467865
9 MRE11 NM_005591.3(MRE11): c.664A> T (p.Lys222Ter) single nucleotide variant Pathogenic 11:94204921-94204921 11:94471755-94471755
10 MRE11 NM_005591.3(MRE11): c.659+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs759130031 11:94209454-94209454 11:94476288-94476288
11 MRE11 NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852761 11:94180454-94180454 11:94447288-94447288
12 MRE11 NM_005591.3(MRE11): c.1960_1979dup (p.Lys661fs) duplication Pathogenic/Likely pathogenic rs587781442 11:94169013-94169032 11:94435847-94435866
13 MRE11 duplication Likely pathogenic
14 MRE11 NM_005591.3(MRE11): c.1327-2A> G single nucleotide variant Likely pathogenic rs878854776 11:94192749-94192749 11:94459583-94459583
15 MRE11 NC_000011.9: g.(?_94194092)_(94212937_?)dup duplication Likely pathogenic 11:94194092-94212937 11:94460926-94479771
16 MRE11 NC_000011.9: g.(?_94209445)_(94212937_?)del deletion Likely pathogenic 11:94209445-94212937 11:94476279-94479771
17 MRE11 NM_005591.3(MRE11): c.1500+1153_1563+1027del deletion Likely pathogenic 11:94188415-94191421 11:94455249-94458255
18 MRE11 NM_005591.3(MRE11): c.1927-1G> T single nucleotide variant Likely pathogenic rs1295485913 11:94169066-94169066 11:94435900-94435900
19 MRE11 NM_005591.3(MRE11): c.21-6_26del12 deletion Conflicting interpretations of pathogenicity rs587780138 11:94224126-94224137 11:94490960-94490971
20 MRE11 NM_005591.3(MRE11): c.1811G> C (p.Arg604Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs148637964 11:94179032-94179032 11:94445866-94445866
21 MRE11 NM_005591.3(MRE11): c.1868-4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs768257868 11:94170405-94170405 11:94437239-94437239
22 MRE11 NM_005591.3(MRE11): c.18A> T (p.Ala6=) single nucleotide variant Conflicting interpretations of pathogenicity rs758314845 11:94225950-94225950 11:94492784-94492784
23 MRE11 NM_005591.3(MRE11): c.534A> G (p.Leu178=) single nucleotide variant Conflicting interpretations of pathogenicity rs374635285 11:94211911-94211911 11:94478745-94478745
24 MRE11 NM_005591.3(MRE11): c.1798G> C (p.Glu600Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145415033 11:94179045-94179045 11:94445879-94445879
25 MRE11 NM_005591.3(MRE11): c.1783+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs142082313 11:94180380-94180380 11:94447214-94447214
26 MRE11 NM_005591.3(MRE11): c.1727G> A (p.Arg576Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139461096 11:94180441-94180441 11:94447275-94447275
27 MRE11 NM_005591.3(MRE11): c.1462C> T (p.Arg488Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375261439 11:94192612-94192612 11:94459446-94459446
28 MRE11 NM_005591.3(MRE11): c.121G> A (p.Asp41Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116679717 11:94224031-94224031 11:94490865-94490865
29 MRE11 NM_005591.3(MRE11): c.1090C> A (p.Arg364=) single nucleotide variant Conflicting interpretations of pathogenicity rs371077728 11:94200987-94200987 11:94467821-94467821
30 MRE11 NM_005591.3(MRE11): c.1404T> C (p.Asp468=) single nucleotide variant Conflicting interpretations of pathogenicity rs368144567 11:94192670-94192670 11:94459504-94459504
31 MRE11 NM_005591.3(MRE11): c.423G> A (p.Leu141=) single nucleotide variant Conflicting interpretations of pathogenicity rs199540078 11:94212022-94212022 11:94478856-94478856
32 MRE11 NM_005591.3(MRE11): c.19C> T (p.Leu7Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs73517551 11:94225949-94225949 11:94492783-94492783
33 MRE11 NM_005591.3(MRE11): c.913C> T (p.Arg305Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs372000848 11:94203741-94203741 11:94470575-94470575
34 MRE11 NM_005591.3(MRE11): c.1480G> A (p.Glu494Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104895016 11:94192594-94192594 11:94459428-94459428
35 MRE11 NM_005591.3(MRE11): c.1475C> A (p.Ala492Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61749249 11:94192599-94192599 11:94459433-94459433
36 MRE11 NM_005591.3(MRE11): c.350A> G (p.Asn117Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs137852760 11:94212892-94212892 11:94479726-94479726
37 MRE11 NM_005591.3(MRE11): c.1783+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs774520952 11:94180378-94180378 11:94447212-94447212
38 MRE11 NM_005591.3(MRE11): c.2113A> G (p.Arg705Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs755681342 11:94153305-94153305 11:94420139-94420139
39 MRE11 NM_005591.3(MRE11): c.469A> G (p.Met157Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147771140 11:94211976-94211976 11:94478810-94478810
40 MRE11 NM_005591.3(MRE11): c.822T> C (p.Leu274=) single nucleotide variant Conflicting interpretations of pathogenicity rs137868143 11:94204763-94204763 11:94471597-94471597
41 MRE11 NM_005591.3(MRE11): c.426C> T (p.Asp142=) single nucleotide variant Conflicting interpretations of pathogenicity rs3218740 11:94212019-94212019 11:94478853-94478853
42 MRE11 NM_005591.3(MRE11): c.77T> C (p.Met26Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs372068015 11:94224075-94224075 11:94490909-94490909
43 MRE11 NM_005591.3(MRE11): c.2070+2T> A single nucleotide variant Conflicting interpretations of pathogenicity rs786202801 11:94163075-94163075 11:94429909-94429909
44 MRE11 NM_005591.3(MRE11): c.1516G> T (p.Glu506Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs587781384 11:94189489-94189489 11:94456323-94456323
45 MRE11 NM_005591.3(MRE11): c.1758G> A (p.Ser586=) single nucleotide variant Conflicting interpretations of pathogenicity rs766372720 11:94180410-94180410 11:94447244-94447244
46 MRE11 NM_005591.3(MRE11): c.1757C> T (p.Ser586Leu) single nucleotide variant Uncertain significance rs753717905 11:94180411-94180411 11:94447245-94447245
47 MRE11 NM_005591.3(MRE11): c.1834G> C (p.Val612Leu) single nucleotide variant Uncertain significance rs371719012 11:94179009-94179009 11:94445843-94445843
48 MRE11 NM_005591.3(MRE11): c.2071_2073GAT[6] (p.Asp695dup) short repeat Uncertain significance rs779409748 11:94153333-94153335 11:94420167-94420169
49 MRE11 NM_005591.3(MRE11): c.2076T> A (p.Asp692Glu) single nucleotide variant Uncertain significance rs778093337 11:94153342-94153342 11:94420176-94420176
50 MRE11 NM_005591.3(MRE11): c.1858A> G (p.Ile620Val) single nucleotide variant Uncertain significance rs144070976 11:94178985-94178985 11:94445819-94445819

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

74
# Symbol AA change Variation ID SNP ID
1 MRE11 p.Asn117Ser VAR_008513 rs137852760

Expression for Ataxia-Telangiectasia-Like Disorder 1

Search GEO for disease gene expression data for Ataxia-Telangiectasia-Like Disorder 1.

Pathways for Ataxia-Telangiectasia-Like Disorder 1

Pathways related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.92 NBN MRE11
2
Show member pathways
11.9 NBN MRE11
3
Show member pathways
11.87 NBN MRE11
4
Show member pathways
11.81 NBN MRE11
5 11.68 NBN MRE11
6
Show member pathways
11.48 NBN MRE11
7
Show member pathways
11.37 NBN MRE11
8
Show member pathways
11.29 NBN MRE11
9 11.14 NBN MRE11
10 11.1 NBN MRE11
11 10.92 NBN MRE11
12
Show member pathways
10.73 NBN MRE11
13 10.62 NBN MRE11
14 10.34 NBN MRE11
15
Show member pathways
9.83 NBN MRE11

GO Terms for Ataxia-Telangiectasia-Like Disorder 1

Cellular components related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.32 NBN MRE11
2 PML body GO:0016605 9.26 NBN MRE11
3 chromosome, telomeric region GO:0000781 9.16 NBN MRE11
4 site of double-strand break GO:0035861 8.96 NBN MRE11
5 Mre11 complex GO:0030870 8.62 NBN MRE11

Biological processes related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.52 NBN MRE11
2 meiotic cell cycle GO:0051321 9.51 NBN MRE11
3 double-strand break repair via homologous recombination GO:0000724 9.49 NBN MRE11
4 double-strand break repair via nonhomologous end joining GO:0006303 9.48 NBN MRE11
5 double-strand break repair GO:0006302 9.46 NBN MRE11
6 DNA duplex unwinding GO:0032508 9.43 NBN MRE11
7 telomere maintenance GO:0000723 9.4 NBN MRE11
8 positive regulation of protein autophosphorylation GO:0031954 9.37 NBN MRE11
9 positive regulation of kinase activity GO:0033674 9.32 NBN MRE11
10 mitotic G2 DNA damage checkpoint GO:0007095 9.26 NBN MRE11
11 DNA double-strand break processing GO:0000729 9.16 NBN MRE11
12 positive regulation of telomere maintenance GO:0032206 8.96 NBN MRE11
13 telomeric 3' overhang formation GO:0031860 8.62 NBN MRE11

Molecular functions related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA helicase activity GO:0004003 8.62 NBN MRE11

Sources for Ataxia-Telangiectasia-Like Disorder 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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