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 56 73 29 6 71
Ataxia-Telangiectasia-Like Disorder 58 73 29 13 54 6 39
Atld 56 58 73
Atld1 56 73

Characteristics:

Orphanet epidemiological data:

58
ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood


HPO:

31
ataxia-telangiectasia-like disorder 1:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Ataxia-Telangiectasia-Like Disorder 1

OMIM : 56 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 dysdiadochokinesis and gait ataxia. 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 Chks in Checkpoint Regulation and Cell Cycle Checkpoints. Affiliated tissues include eye, skin and brain, and related phenotypes are mask-like facies and dysarthria

UniProtKB/Swiss-Prot : 73 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 35)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia 30.0 NBN MRE11
2 nijmegen breakage syndrome 29.9 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 autosomal recessive disease 10.4
7 oculomotor apraxia 10.4
8 ataxia and polyneuropathy, adult-onset 10.3
9 telangiectasis 10.3
10 pathologic nystagmus 10.3
11 cerebellar degeneration 10.3
12 microcephaly 10.2
13 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.1
14 strabismus 10.1
15 ocular motor apraxia 10.1
16 lung cancer susceptibility 3 10.1
17 alacrima, achalasia, and mental retardation syndrome 10.1
18 hereditary lymphedema i 10.1
19 amenorrhea 10.1
20 autosomal dominant cerebellar ataxia 10.1
21 hypogonadism 10.1
22 adenocarcinoma 10.1
23 dystonia 10.1
24 mechanical strabismus 10.1
25 spastic paraparesis 10.1
26 rare ataxia 10.1
27 alpha-thalassemia/mental retardation syndrome, x-linked 9.6 NBN MRE11
28 lig4 syndrome 9.6 NBN MRE11
29 hereditary breast ovarian cancer syndrome 9.6 NBN MRE11
30 werner syndrome 9.6 NBN MRE11
31 autosomal recessive cerebellar ataxia 9.5 NBN MRE11
32 seckel syndrome 9.5 NBN MRE11
33 lynch syndrome 9.5 NBN MRE11
34 xeroderma pigmentosum, variant type 9.4 NBN MRE11
35 fanconi anemia, complementation group a 9.2 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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
4 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
5 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
6 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
7 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
8 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
9 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
10 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
11 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
12 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
13 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
14 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
15 dilated fourth ventricle 58 31 frequent (33%) Frequent (79-30%) HP:0002198
16 enlarged interhemispheric fissure 58 31 frequent (33%) Frequent (79-30%) HP:0100953
17 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
18 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
19 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
20 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
21 dysdiadochokinesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002075
22 hypergonadotropic hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000815
23 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
24 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
25 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
26 sensorimotor neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007141
27 dysmetric saccades 58 31 occasional (7.5%) Occasional (29-5%) HP:0000641
28 vertical nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010544
29 small posterior fossa 58 31 occasional (7.5%) Occasional (29-5%) HP:0040010
30 gaze-evoked nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000640
31 abnormality of ocular smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0000617
32 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
33 ataxia 58 Very frequent (99-80%)
34 reduced tendon reflexes 58 Frequent (79-30%)
35 hyporeflexia 31 HP:0001265
36 distal amyotrophy 31 HP:0003693
37 lower limb spasticity 31 HP:0002061
38 telangiectasia 31 HP:0001009
39 impaired smooth pursuit 31 HP:0007772
40 increased sensitivity to ionizing radiation 31 HP:0011133
41 hypometric saccades 31 HP:0000571

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
dystonia
dysdiadochokinesis
chorea
gait ataxia
more
Head And Neck Eyes:
oculomotor apraxia
impaired smooth pursuit
hypometric saccades
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:


dysdiadochokinesis, gait ataxia

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 29
2 Ataxia-Telangiectasia-Like Disorder 1 29 MRE11

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

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

40
Eye, Skin, Brain, Lung, B Cells, Neutrophil

Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show top 50) (show all 70)
# Title Authors PMID Year
1
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. 61 6 54 56
15269180 2004
2
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. 56 61 6
15574463 2005
3
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. 61 56 6
11371508 2001
4
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 61 6 56
10612394 1999
5
Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. 6 56
24332946 2014
6
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 56 6
22863007 2012
7
Ataxia without telangiectasia masquerading as benign hereditary chorea. 6 56
8684395 1996
8
A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. 56 6
8445618 1993
9
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
10
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. 61 54
20087742 2010
11
A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation. 61 54
18575580 2008
12
Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm. 61 54
15234984 2004
13
The Drosophila Mre11/Rad50 complex is required to prevent both telomeric fusion and chromosome breakage. 54 61
15296753 2004
14
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. 54 61
12966088 2003
15
Human MRE11 is inactivated in mismatch repair-deficient cancers. 61 54
11850399 2002
16
FXR1 is a novel MRE11-binding partner and participates in oxidative stress responses. 61
32211858 2020
17
Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike? 61
32289520 2020
18
RAD50 regulates mitotic progression independent of DNA repair functions. 61
31908056 2020
19
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect. 61
31033087 2019
20
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. 61
30584599 2018
21
[Ataxia telangiectasia-like disorder -a child with a novel variant in MRE11A gene]. 61
28699156 2017
22
MRE11 stability is regulated by CK2-dependent interaction with R2TP complex. 61
28436950 2017
23
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. 61
29170652 2017
24
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? 61
24733832 2014
25
Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. 61
23912341 2013
26
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. 61
23436002 2013
27
DNA damage sensor MRE11 recognizes cytosolic double-stranded DNA and induces type I interferon by regulating STING trafficking. 61
23388631 2013
28
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. 61
23622410 2013
29
Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. 61
23080121 2012
30
Mre11 modulates the fidelity of fusion between short telomeres in human cells. 61
22139912 2012
31
Mre11 regulates CtIP-dependent double-strand break repair by interaction with CDK2. 61
22231403 2012
32
Oxidative stress in developmental brain disorders. 61
22411250 2012
33
Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. 61
21227757 2011
34
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. 61
19732584 2009
35
Ataxias with autosomal, X-chromosomal or maternal inheritance. 61
19650351 2009
36
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. 61
19409520 2009
37
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. 61
19211838 2009
38
Ataxia with oculomotor apraxia. 61
19073331 2008
39
DNA repair by the MRN complex: break it to make it. 61
18854148 2008
40
Mre11 dimers coordinate DNA end bridging and nuclease processing in double-strand-break repair. 61
18854158 2008
41
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. 61
18652530 2008
42
Ophthalmic features of ataxia telangiectasia-like disorder. 61
18083591 2008
43
Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. 61
18568480 2008
44
The Mre11 complex mediates the S-phase checkpoint through an interaction with replication protein A. 61
17591703 2007
45
Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template. 61
17713585 2007
46
A subgroup of spinocerebellar ataxias defective in DNA damage responses. 61
17224243 2007
47
Developing master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repair. 61
17174478 2007
48
Mechanisms of disease: DNA repair defects and neurological disease. 61
17342192 2007
49
Spinocerebellar ataxia with ocular motor apraxia and DNA repair. 61
16961074 2006
50
Rad50S alleles of the Mre11 complex: questions answered and questions raised. 61
16857186 2006

Variations for Ataxia-Telangiectasia-Like Disorder 1

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

6 (show top 50) (show all 407) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MRE11 NM_005591.3(MRE11):c.1414G>T (p.Glu472Ter)SNV Pathogenic 481748 rs1376550081 11:94192660-94192660 11:94459494-94459494
2 MRE11 NM_005590.4(MRE11):c.1047_1048del (p.Glu350fs)deletion Pathogenic 660377 11:94201029-94201030 11:94467863-94467864
3 MRE11 NM_005591.3(MRE11):c.664A>T (p.Lys222Ter)SNV Pathogenic 659921 11:94204921-94204921 11:94471755-94471755
4 MRE11 NC_000011.10:g.(?_94470461)_(94492811_?)deldeletion Pathogenic 833144 11:94203627-94225977
5 MRE11 NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)SNV Pathogenic 825924 11:94209543-94209543 11:94476377-94476377
6 MRE11 NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)SNV Pathogenic 8782 rs137852759 11:94170372-94170372 11:94437206-94437206
7 MRE11 NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys)SNV Pathogenic 8785 rs137852762 11:94192632-94192632 11:94459466-94459466
8 MRE11 NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)SNV Pathogenic 8786 rs137852763 11:94209484-94209484 11:94476318-94476318
9 MRE11 NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter)SNV Pathogenic 140953 rs371077728 11:94200987-94200987 11:94467821-94467821
10 MRE11 NM_005590.4(MRE11):c.1726C>T (p.Arg576Ter)SNV Pathogenic 184445 rs774277300 11:94180442-94180442 11:94447276-94447276
11 MRE11 NM_005590.4(MRE11):c.739dup (p.His247fs)duplication Pathogenic 187699 rs786203931 11:94204845-94204846 11:94471679-94471680
12 MRE11 NM_005591.3(MRE11):c.504_511del (p.Leu169fs)deletion Pathogenic 185530 rs786202253 11:94211934-94211941 11:94478768-94478775
13 MRE11 NM_005591.3(MRE11):c.1143del (p.Phe381fs)deletion Pathogenic 216094 rs863224508 11:94197361-94197361 11:94464195-94464195
14 MRE11 NM_005591.3(MRE11):c.1447C>T (p.Arg483Ter)SNV Pathogenic 231449 rs780001540 11:94192627-94192627 11:94459461-94459461
15 MRE11 NM_005591.3(MRE11):c.659+1G>ASNV Pathogenic/Likely pathogenic 230014 rs759130031 11:94209454-94209454 11:94476288-94476288
16 MRE11 NM_005590.4(MRE11):c.1222dup (p.Thr408fs)duplication Pathogenic/Likely pathogenic 184556 rs774440500 11:94197281-94197282 11:94464115-94464116
17 MRE11 NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)SNV Pathogenic/Likely pathogenic 8784 rs137852761 11:94180454-94180454 11:94447288-94447288
18 MRE11 NM_005591.3(MRE11):c.1927-2A>GSNV Likely pathogenic 141533 rs587781822 11:94169067-94169067 11:94435901-94435901
19 MRE11 NC_000011.9:g.(?_94194092)_(94212937_?)dupduplication Likely pathogenic 658977 11:94194092-94212937 11:94460926-94479771
20 MRE11 NM_005590.4(MRE11):c.1500+1153_1563+1027deldeletion Likely pathogenic 638600 11:94188415-94191421 11:94455249-94458255
21 MRE11 NM_005591.4(MRE11):c.1112dup (p.Gly372fs)duplication Likely pathogenic 807446 11:94197391-94197392 11:94464225-94464226
22 MRE11 NM_005591.4(MRE11):c.818_819CT[1] (p.Leu274fs)short repeat Likely pathogenic 807630 11:94204764-94204765 11:94471598-94471599
23 MRE11 duplication Likely pathogenic 466426 11:94476283-94478882
24 MRE11 NM_005591.3(MRE11):c.1927-1G>TSNV Likely pathogenic 481761 rs1295485913 11:94169066-94169066 11:94435900-94435900
25 MRE11 NC_000011.10:g.(?_94476279)_(94479771_?)deldeletion Likely pathogenic 583603 11:94209445-94212937 11:94476279-94479771
26 MRE11 NM_005591.3(MRE11):c.1327-2A>GSNV Likely pathogenic 240184 rs878854776 11:94192749-94192749 11:94459583-94459583
27 MRE11 NM_005591.3(MRE11):c.1783+10G>CSNV Conflicting interpretations of pathogenicity 220576 rs864622589 11:94180375-94180375 11:94447209-94447209
28 MRE11 NM_005591.3(MRE11):c.1783+7A>GSNV Conflicting interpretations of pathogenicity 220059 rs774520952 11:94180378-94180378 11:94447212-94447212
29 MRE11 NM_005591.3(MRE11):c.1233G>A (p.Glu411=)SNV Conflicting interpretations of pathogenicity 230703 rs748756180 11:94194195-94194195 11:94461029-94461029
30 MRE11 NM_005591.3(MRE11):c.18A>T (p.Ala6=)SNV Conflicting interpretations of pathogenicity 306496 rs758314845 11:94225950-94225950 11:94492784-94492784
31 MRE11 NM_005591.3(MRE11):c.1868-4C>ASNV Conflicting interpretations of pathogenicity 306489 rs768257868 11:94170405-94170405 11:94437239-94437239
32 MRE11 NM_005591.3(MRE11):c.20+8C>ASNV Conflicting interpretations of pathogenicity 534779 rs766581183 11:94225940-94225940 11:94492774-94492774
33 MRE11 NM_005591.3(MRE11):c.1226-5T>CSNV Conflicting interpretations of pathogenicity 548916 rs1555009952 11:94194207-94194207 11:94461041-94461041
34 MRE11 NM_005591.3(MRE11):c.1183A>G (p.Ile395Val)SNV Conflicting interpretations of pathogenicity 466428 rs775670175 11:94197321-94197321 11:94464155-94464155
35 MRE11 NM_005591.3(MRE11):c.423G>A (p.Leu141=)SNV Conflicting interpretations of pathogenicity 483603 rs199540078 11:94212022-94212022 11:94478856-94478856
36 MRE11 NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)SNV Conflicting interpretations of pathogenicity 8783 rs137852760 11:94212892-94212892 11:94479726-94479726
37 MRE11 NM_005591.4(MRE11):c.1130G>A (p.Ser377Asn)SNV Conflicting interpretations of pathogenicity 822223 11:94197374-94197374 11:94464208-94464208
38 MRE11 NM_005591.3(MRE11):c.469A>G (p.Met157Val)SNV Conflicting interpretations of pathogenicity 142476 rs147771140 11:94211976-94211976 11:94478810-94478810
39 MRE11 NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln)SNV Conflicting interpretations of pathogenicity 142511 rs145415033 11:94179045-94179045 11:94445879-94445879
40 MRE11 NM_005591.3(MRE11):c.822T>C (p.Leu274=)SNV Conflicting interpretations of pathogenicity 182549 rs137868143 11:94204763-94204763 11:94471597-94471597
41 MRE11 NM_005591.3(MRE11):c.426C>T (p.Asp142=)SNV Conflicting interpretations of pathogenicity 182547 rs3218740 11:94212019-94212019 11:94478853-94478853
42 MRE11 NM_005590.4(MRE11):c.120C>T (p.Leu40=)SNV Conflicting interpretations of pathogenicity 182552 rs1805364 11:94224032-94224032 11:94490866-94490866
43 MRE11 NM_005591.3(MRE11):c.77T>C (p.Met26Thr)SNV Conflicting interpretations of pathogenicity 182553 rs372068015 11:94224075-94224075 11:94490909-94490909
44 MRE11 NM_005591.3(MRE11):c.-95A>GSNV Conflicting interpretations of pathogenicity 182546 rs191426010 11:94226062-94226062 11:94492896-94492896
45 MRE11 NM_005591.4(MRE11):c.2070+2T>ASNV Conflicting interpretations of pathogenicity 186243 rs786202801 11:94163075-94163075 11:94429909-94429909
46 MRE11 NM_005591.3(MRE11):c.660-5T>GSNV Conflicting interpretations of pathogenicity 141607 rs587781873 11:94204930-94204930 11:94471764-94471764
47 MRE11 NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr)SNV Conflicting interpretations of pathogenicity 142542 rs373522639 11:94180525-94180525 11:94447359-94447359
48 MRE11 NM_005591.3(MRE11):c.1462C>T (p.Arg488Cys)SNV Conflicting interpretations of pathogenicity 127972 rs375261439 11:94192612-94192612 11:94459446-94459446
49 MRE11 NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln)SNV Conflicting interpretations of pathogenicity 127974 rs139461096 11:94180441-94180441 11:94447275-94447275
50 MRE11 NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro)SNV Conflicting interpretations of pathogenicity 127977 rs148637964 11:94179032-94179032 11:94445866-94445866

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

73
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 NBN MRE11
2
Show member pathways
12.14 NBN MRE11
3 12.03 NBN MRE11
4
Show member pathways
12.01 NBN MRE11
5
Show member pathways
11.91 NBN MRE11
6
Show member pathways
11.88 NBN MRE11
7
Show member pathways
11.86 NBN MRE11
8
Show member pathways
11.79 NBN MRE11
9 11.67 NBN MRE11
10
Show member pathways
11.63 NBN MRE11
11
Show member pathways
11.37 NBN MRE11
12
Show member pathways
11.29 NBN MRE11
13 11.14 NBN MRE11
14 10.92 NBN MRE11
15
Show member pathways
10.73 NBN MRE11
16 10.62 NBN MRE11
17 10.34 NBN MRE11
18
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 chromosome GO:0005694 9.4 NBN MRE11
2 nuclear chromosome, telomeric region GO:0000784 9.37 NBN MRE11
3 PML body GO:0016605 9.32 NBN MRE11
4 chromosome, telomeric region GO:0000781 9.26 NBN MRE11
5 site of double-strand break GO:0035861 9.16 NBN MRE11
6 replication fork GO:0005657 8.96 NBN MRE11
7 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 18)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.58 NBN MRE11
2 cellular response to DNA damage stimulus GO:0006974 9.57 NBN MRE11
3 DNA repair GO:0006281 9.56 NBN MRE11
4 DNA replication GO:0006260 9.55 NBN MRE11
5 cell proliferation GO:0008283 9.54 NBN MRE11
6 regulation of signal transduction by p53 class mediator GO:1901796 9.52 NBN MRE11
7 meiotic cell cycle GO:0051321 9.51 NBN MRE11
8 double-strand break repair via homologous recombination GO:0000724 9.49 NBN MRE11
9 DNA duplex unwinding GO:0032508 9.48 NBN MRE11
10 positive regulation of kinase activity GO:0033674 9.46 NBN MRE11
11 double-strand break repair via nonhomologous end joining GO:0006303 9.43 NBN MRE11
12 double-strand break repair GO:0006302 9.4 NBN MRE11
13 telomere maintenance GO:0000723 9.37 NBN MRE11
14 positive regulation of protein autophosphorylation GO:0031954 9.32 NBN MRE11
15 mitotic G2 DNA damage checkpoint GO:0007095 9.26 NBN MRE11
16 DNA double-strand break processing GO:0000729 9.16 NBN MRE11
17 positive regulation of telomere maintenance GO:0032206 8.96 NBN MRE11
18 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 DNA helicase activity GO:0003678 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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