MCID: ATX006
MIFTS: 51

Ataxia-Telangiectasia-Like Disorder malady

Genetic diseases, Neuronal diseases, Skin diseases, Blood diseases, Cancer diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Immune diseases categories

Summaries for Ataxia-Telangiectasia-Like Disorder

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OMIM:47 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive... (604391) more...

MalaCards based summary: Ataxia-Telangiectasia-Like Disorder, also known as ataxia-telangiectasia-like syndrome, is related to ataxia-telangiectasia and ataxia, and has symptoms including microcephaly, flexion contracture and autosomal recessive inheritance. An important gene associated with Ataxia-Telangiectasia-Like Disorder is MRE11A (MRE11 meiotic recombination 11 homolog A (S. cerevisiae)), and among its related pathways are Telomere Extension By Telomerase and BRCA1 Pathway. The compounds n acetylcysteine and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include skin and lung, and related mouse phenotypes are tumorigenesis and embryogenesis.

Description from OMIM:47 615919

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder

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Sources:
47OMIM, 11diseasecard, 45Novoseek, 49Orphanet, 22GeneTests, 24GTR, 63UMLS via Orphanet
See all sources

Ataxia-Telangiectasia-Like Disorder, Aliases & Descriptions:

Name: Ataxia-Telangiectasia-Like Disorder 47 11 45 49
Ataxia-Telangiectasia-Like Syndrome 22 24
 
Atld 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
ataxia-telangiectasia-like disorder:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet49 251347
UMLS via Orphanet63 C1859598

Related Diseases for Ataxia-Telangiectasia-Like Disorder

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Diseases in the Ataxia-Telangiectasia family:

ataxia-telangiectasia-like disorder Ataxia Telangiectasia Variant V1

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia-telangiectasia31.0MRE11A, NBN, RAD50
2ataxia10.7
3adenocarcinoma10.2
4cerebellar degeneration10.2
5ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.2
6cerebellar ataxia10.2
7apraxia10.2
8colorectal cancer10.0PCNA, NBN
9werner syndrome10.0NBN, MRE11A
10nijmegen breakage syndrome10.0RAD50, NBN, MRE11A
11microcephaly10.0RAD50, NBN, MRE11A
12fanconi anemia, complementation group a10.0RAD50, NBN, MRE11A
13stomach cancer9.9NBN, PCNA, RAD50
14breast cancer9.9RAD50, PCNA, NBN, MRE11A

Graphical network of diseases related to Ataxia-Telangiectasia-Like Disorder:



Diseases related to ataxia-telangiectasia-like disorder

Symptoms for Ataxia-Telangiectasia-Like Disorder

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Symptoms by clinical synopsis from OMIM:

604391

Clinical features from OMIM:

604391,615919

HPO human phenotypes related to Ataxia-Telangiectasia-Like Disorder:

(show all 28)
id Description Frequency HPO Source Accession
1 microcephaly rare (5%) HP:0000252
2 flexion contracture rare (5%) HP:0001371
3 autosomal recessive inheritance HP:0000007
4 hypometric saccades HP:0000571
5 gaze-evoked nystagmus HP:0000640
6 oculomotor apraxia HP:0000657
7 dysarthria HP:0001260
8 hyporeflexia HP:0001265
9 cerebellar atrophy HP:0001272
10 dystonia HP:0001332
11 lower limb spasticity HP:0002061
12 gait ataxia HP:0002066
13 chorea HP:0002072
14 dysdiadochokinesis HP:0002075
15 frequent falls HP:0002359
16 progressive disorder HP:0003676
17 distal amyotrophy HP:0003693
18 impaired smooth pursuit HP:0007772
19 conjunctival telangiectasia HP:0000524
20 photophobia HP:0000613
21 cutaneous photosensitivity HP:0000992
22 ataxia HP:0001251
23 global developmental delay HP:0001263
24 muscle weakness HP:0001324
25 pes cavus HP:0001761
26 dysphagia HP:0002015
27 neurodegeneration HP:0002180
28 unsteady gait HP:0002317

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder

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Drug clinical trials:

Search ClinicalTrials for Ataxia-Telangiectasia-Like Disorder

Search NIH Clinical Center for Ataxia-Telangiectasia-Like Disorder

Genetic Tests for Ataxia-Telangiectasia-Like Disorder

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Genetic tests related to Ataxia-Telangiectasia-Like Disorder:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder22 24 MRE11A

Anatomical Context for Ataxia-Telangiectasia-Like Disorder

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

33
Skin, Lung

Animal Models for Ataxia-Telangiectasia-Like Disorder or affiliated genes

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MGI Mouse Phenotypes related to Ataxia-Telangiectasia-Like Disorder:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6MRE11A, NBN, RAD50
2MP:00053808.6RAD50, NBN, MRE11A
3MP:00053798.2NBN, PCNA, RAD50
4MP:00053898.1RAD50, PCNA, NBN, MRE11A
5MP:00053978.1MRE11A, NBN, PCNA, RAD50
6MP:00053878.1RAD50, PCNA, NBN, MRE11A
7MP:00107687.9RAD50, PCNA, NBN, MRE11A

Publications for Ataxia-Telangiectasia-Like Disorder

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Articles related to Ataxia-Telangiectasia-Like Disorder:

idTitleAuthorsYear
1
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. (23436002)
2013
2
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. (20087742)
2010
3
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. (19732584)
2009
4
Ophthalmic features of ataxia telangiectasia-like disorder. (18083591)
2008
5
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. (18652530)
2008
6
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. (15574463)
2005
7
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. (15279810)
2004
8
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. (15269180)
2004
9
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. (12966088)
2003
10
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. (10612394)
1999

Variations for Ataxia-Telangiectasia-Like Disorder

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

64
id Symbol AA change Variation ID SNP ID
1MRE11Ap.Asn117SerVAR_008513
2PCNAp.Ser228IleVAR_071871

Clinvar genetic disease variations for Ataxia-Telangiectasia-Like Disorder:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PCNANM_002592.2(PCNA): c.683G> T (p.Ser228Ile)single nucleotide variantPathogenicGRCh37Chr 20, 5096118: 5096118
2MRE11ANM_005591.3(MRE11A): c.1897C> T (p.Arg633Ter)single nucleotide variantPathogenicrs137852759GRCh37Chr 11, 94170372: 94170372
3MRE11ANM_005591.3(MRE11A): c.350A> G (p.Asn117Ser)single nucleotide variantPathogenicrs137852760GRCh37Chr 11, 94212892: 94212892
4MRE11ANM_005591.3(MRE11A): c.1714C> T (p.Arg572Ter)single nucleotide variantPathogenicrs137852761GRCh37Chr 11, 94180454: 94180454
5MRE11ANM_005591.3(MRE11A): c.1442C> A (p.Thr481Lys)single nucleotide variantPathogenicrs137852762GRCh37Chr 11, 94192632: 94192632
6MRE11ANM_005591.3(MRE11A): c.630G> C (p.Trp210Cys)single nucleotide variantPathogenicrs137852763GRCh37Chr 11, 94209484: 94209484

Expression for genes affiliated with Ataxia-Telangiectasia-Like Disorder

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

Pathways for genes affiliated with Ataxia-Telangiectasia-Like Disorder

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Pathways related to Ataxia-Telangiectasia-Like Disorder according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4MRE11A, RAD50
2
Show member pathways
9.4RAD50, MRE11A
3
Show member pathways
ATM Signaling Pathway38
9.4RAD50, MRE11A
49.4RAD50, MRE11A
5
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.4RAD50, MRE11A
69.1MRE11A, NBN
79.0NBN, PCNA
88.8RAD50, PCNA, MRE11A
9
Show member pathways
8.8RAD50, PCNA, MRE11A
10
Show member pathways
8.6RAD50, NBN, MRE11A
11
Show member pathways
8.6RAD50, NBN, MRE11A
12
Show member pathways
DNA damage response38
8.6RAD50, NBN, MRE11A
13
Show member pathways
8.6MRE11A, NBN, RAD50
14
Show member pathways
8.6MRE11A, NBN, RAD50
15
Show member pathways
Non-homologous end joining38
DNA damage NHEJ mechanisms of DSBs repair60
8.6MRE11A, NBN, RAD50
168.6MRE11A, NBN, RAD50
17
Show member pathways
Homologous recombination38
8.6RAD50, NBN, MRE11A
188.0RAD50, PCNA, NBN, MRE11A
198.0RAD50, PCNA, NBN, MRE11A
20
Show member pathways
8.0RAD50, PCNA, NBN, MRE11A
21
Show member pathways
8.0RAD50, PCNA, NBN, MRE11A
22
Show member pathways
8.0MRE11A, NBN, PCNA, RAD50

Compounds for genes affiliated with Ataxia-Telangiectasia-Like Disorder

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Compounds related to Ataxia-Telangiectasia-Like Disorder according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1n acetylcysteine459.0PCNA, NBN
2tin(2+)458.8MRE11A, NBN, RAD50
3etoposide45 51 61 1311.7PCNA, NBN
4mononucleotide458.7RAD50, NBN, MRE11A
5methylmethanesulfonate458.6NBN, PCNA, RAD50
6hydroxyurea45 51 1310.5RAD50, PCNA, NBN
7mitomycin c458.4MRE11A, NBN, PCNA
8camptothecin45 61 1310.2RAD50, PCNA, NBN, MRE11A

GO Terms for genes affiliated with Ataxia-Telangiectasia-Like Disorder

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Cellular components related to Ataxia-Telangiectasia-Like Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosome, telomeric regionGO:00007849.0NBN, RAD50
2Mre11 complexGO:00308708.7RAD50, NBN, MRE11A
3site of double-strand breakGO:00358618.7MRE11A, NBN, RAD50
4nucleoplasmGO:00056548.0RAD50, PCNA, NBN, MRE11A
5nucleusGO:00056348.0RAD50, PCNA, NBN, MRE11A
6nucleolusGO:00057307.7RAD50, PCNA, NBN, MRE11A

Biological processes related to Ataxia-Telangiectasia-Like Disorder according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic recombinationGO:00000199.6RAD50, MRE11A
2telomere maintenance via telomeraseGO:00070049.6MRE11A, RAD50
3DNA catabolic process, endonucleolyticGO:00007379.5MRE11A, RAD50
4reciprocal meiotic recombinationGO:00071319.4RAD50, MRE11A
5cellular response to DNA damage stimulusGO:00069749.4RAD50, MRE11A
6nucleic acid phosphodiester bond hydrolysisGO:00903059.3RAD50, MRE11A
7mitotic G2 DNA damage checkpointGO:00070959.3NBN, MRE11A
8DNA recombinationGO:00063109.1RAD50, MRE11A
9positive regulation of kinase activityGO:00336748.9RAD50, NBN, MRE11A
10positive regulation of protein autophosphorylationGO:00319548.9MRE11A, NBN, RAD50
11DNA duplex unwindingGO:00325088.9MRE11A, NBN, RAD50
12double-strand break repair via homologous recombinationGO:00007248.8RAD50, NBN, MRE11A
13double-strand break repairGO:00063028.8MRE11A, NBN, RAD50
14telomere maintenanceGO:00007238.8RAD50, PCNA, NBN
15cell proliferationGO:00082838.6PCNA, NBN, MRE11A
16DNA repairGO:00062818.3RAD50, PCNA, NBN, MRE11A

Molecular functions related to Ataxia-Telangiectasia-Like Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
13-5 exonuclease activityGO:00084089.4RAD50, MRE11A
2single-stranded DNA endodeoxyribonuclease activityGO:00000149.1RAD50, MRE11A
3ATP-dependent DNA helicase activityGO:00040038.5RAD50, NBN, MRE11A

Products for genes affiliated with Ataxia-Telangiectasia-Like Disorder

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Sources for Ataxia-Telangiectasia-Like Disorder

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet