MCID: ATX006
MIFTS: 48

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Ataxia-Telangiectasia-Like Disorder:

Name: Ataxia-Telangiectasia-Like Disorder 49 11 47 51 67
Atld 22 51 67
Ataxia-Telangiectasia-Like Syndrome 22 24
Ataxia-Telangiectasia-Like Disorder 1 67
 
Ataxia-Telangiectasia-Like Disorder 2 67
Atld1 67
Atld2 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
ataxia-telangiectasia-like disorder:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 251347
UMLS via Orphanet66 C1859598

Summaries for Ataxia-Telangiectasia-Like Disorder

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UniProtKB/Swiss-Prot:67 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. Ataxia-telangiectasia-like disorder 2: A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity.

MalaCards based summary: Ataxia-Telangiectasia-Like Disorder, also known as atld, 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 Homolog A, Double Strand Break Repair Nuclease), and among its related pathways are miRNA Regulation of DNA Damage Response and GADD45 Pathway. Affiliated tissues include eye, skin and neutrophil, and related mouse phenotypes are embryogenesis and endocrine/exocrine gland.

OMIM:49 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive... (604391) more...

Description from OMIM:49 615919

Related Diseases for Ataxia-Telangiectasia-Like Disorder

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Graphical network of the top 20 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 29)
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 telangiectasia HP:0001009
8 dysarthria HP:0001260
9 hyporeflexia HP:0001265
10 cerebellar atrophy HP:0001272
11 dystonia HP:0001332
12 lower limb spasticity HP:0002061
13 gait ataxia HP:0002066
14 chorea HP:0002072
15 dysdiadochokinesis HP:0002075
16 frequent falls HP:0002359
17 progressive HP:0003676
18 distal amyotrophy HP:0003693
19 impaired smooth pursuit HP:0007772
20 conjunctival telangiectasia HP:0000524
21 photophobia HP:0000613
22 cutaneous photosensitivity HP:0000992
23 ataxia HP:0001251
24 global developmental delay HP:0001263
25 muscle weakness HP:0001324
26 pes cavus HP:0001761
27 dysphagia HP:0002015
28 neurodegeneration HP:0002180
29 unsteady gait HP:0002317

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder

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Interventional clinical trials:

Search ClinicalTrials, 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
Eye, Skin, Neutrophil, Lung

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.3ATM, MRE11A, NBN, RAD50
2MP:00053798.1ATM, NBN, PCNA, RAD50
3MP:00053847.8ATM, CHEK2, MRE11A, NBN, RAD50
4MP:00020067.7ATM, CHEK2, MRE11A, NBN, RAD50
5MP:00053897.3ATM, MRE11A, NBN, PCNA, RAD50
6MP:00107687.3ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
7MP:00053877.2ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
8MP:00053977.2ATM, CHEK2, MRE11A, NBN, PCNA, RAD50

Publications for Ataxia-Telangiectasia-Like Disorder

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Articles related to Ataxia-Telangiectasia-Like Disorder:

(show all 12)
idTitleAuthorsYear
1
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? (24733832)
2014
2
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. (23436002)
2013
3
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. (20087742)
2010
4
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. (19732584)
2009
5
Ophthalmic features of ataxia telangiectasia-like disorder. (18083591)
2008
6
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. (18652530)
2008
7
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. (15574463)
2005
8
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. (15279810)
2004
9
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. (15269180)
2004
10
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. (12966088)
2003
11
Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. (11481721)
2001
12
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:

67
id Symbol AA change Variation ID SNP ID
1MRE11Ap.Asn117SerVAR_008513
2PCNAp.Ser228IleVAR_071871

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MRE11ANM_005591.3(MRE11A): c.497C> T (p.Pro166Leu)single nucleotide variantLikely pathogenicrs587782308GRCh38Chr 11, 94478782: 94478782
2PCNANM_002592.2(PCNA): c.683G> T (p.Ser228Ile)single nucleotide variantPathogenicrs369958038GRCh37Chr 20, 5096118: 5096118
3MRE11ANM_005591.3(MRE11A): c.140C> T (p.Ala47Val)single nucleotide variantPathogenicrs730880378GRCh37Chr 11, 94224012: 94224012
4MRE11ANM_005591.3(MRE11A): c.497C> T (p.Pro166Leu)single nucleotide variantLikely pathogenicrs587782308GRCh38Chr 11, 94478782: 94478782
5MRE11ANM_005591.3(MRE11A): c.1897C> T (p.Arg633Ter)single nucleotide variantPathogenicrs137852759GRCh37Chr 11, 94170372: 94170372
6MRE11ANM_005591.3(MRE11A): c.350A> G (p.Asn117Ser)single nucleotide variantPathogenicrs137852760GRCh37Chr 11, 94212892: 94212892
7MRE11ANM_005591.3(MRE11A): c.1714C> T (p.Arg572Ter)single nucleotide variantPathogenicrs137852761GRCh37Chr 11, 94180454: 94180454
8MRE11ANM_005591.3(MRE11A): c.1442C> A (p.Thr481Lys)single nucleotide variantPathogenicrs137852762GRCh37Chr 11, 94192632: 94192632
9MRE11ANM_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 Suite gene sharing:

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5MRE11A, NBN
29.2ATM, PCNA
39.1ATM, CHEK2
4
Show member pathways
9.1ATM, CHEK2
59.1ATM, CHEK2
68.9MRE11A, NBN, RAD50
7
Show member pathways
8.9MRE11A, NBN, RAD50
88.7ATM, CHEK2, PCNA
98.7ATM, CHEK2, PCNA
108.2ATM, CHEK2, NBN, PCNA
11
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
12
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
13
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
148.1ATM, MRE11A, NBN, RAD50
158.1ATM, MRE11A, NBN, RAD50
16
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
17
Show member pathways
8.1ATM, CHEK2, MRE11A, RAD50
188.1ATM, CHEK2, MRE11A, RAD50
19
Show member pathways
7.6ATM, MRE11A, NBN, PCNA, RAD50
207.6ATM, MRE11A, NBN, PCNA, RAD50
217.6ATM, CHEK2, MRE11A, PCNA, RAD50
22
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
23
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
24
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
25
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
267.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
277.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
28
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
29
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
30
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:00166059.9CHEK2, NBN
2Mre11 complexGO:00308709.6MRE11A, NBN, RAD50
3site of double-strand breakGO:00358619.5MRE11A, NBN, RAD50
4nuclear chromosome, telomeric regionGO:00007848.9MRE11A, NBN, PCNA, RAD50
5chromosome, telomeric regionGO:00007818.6ATM, CHEK2, MRE11A, NBN
6nucleoplasmGO:00056547.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic recombinationGO:000001910.2MRE11A, RAD50
2meiotic cell cycleGO:005132110.1MRE11A, NBN
3mitotic G2 DNA damage checkpointGO:000709510.0MRE11A, NBN
4DNA recombinationGO:000631010.0MRE11A, RAD50
5chromosome organizationGO:00512769.9MRE11A, RAD50
6base-excision repairGO:00062849.8MRE11A, PCNA
7telomere maintenance via telomeraseGO:00070049.8MRE11A, RAD50
8replicative senescenceGO:00903999.7ATM, CHEK2
9intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6ATM, CHEK2
10nucleic acid phosphodiester bond hydrolysisGO:00903059.6MRE11A, RAD50
11DNA damage induced protein phosphorylationGO:00069759.5ATM, CHEK2
12positive regulation of protein autophosphorylationGO:00319549.4MRE11A, NBN, RAD50
13cell proliferationGO:00082839.2MRE11A, NBN, PCNA
14DNA duplex unwindingGO:00325089.1MRE11A, NBN, RAD50
15DNA damage checkpointGO:00000779.1ATM, CHEK2, NBN
16positive regulation of kinase activityGO:00336748.9MRE11A, NBN, RAD50
17reciprocal meiotic recombinationGO:00071318.9ATM, MRE11A, RAD50
18heart developmentGO:00075078.8ATM, MRE11A, PCNA
19double-strand break repair via nonhomologous end joiningGO:00063038.5ATM, MRE11A, NBN, RAD50
20double-strand break repair via homologous recombinationGO:00007248.4ATM, MRE11A, NBN, RAD50
21telomere maintenanceGO:00007238.3ATM, NBN, PCNA, RAD50
22double-strand break repair via synthesis-dependent strand annealingGO:00450038.2ATM, MRE11A, NBN, RAD50
23double-strand break repairGO:00063027.8ATM, CHEK2, MRE11A, NBN, RAD50
24cellular response to DNA damage stimulusGO:00069747.3ATM, CHEK2, MRE11A, NBN, RAD50
25DNA repairGO:00062817.0ATM, CHEK2, MRE11A, NBN, PCNA, RAD50

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA endodeoxyribonuclease activityGO:00000149.9MRE11A, RAD50
23-5 exonuclease activityGO:00084089.7MRE11A, RAD50
3damaged DNA bindingGO:00036849.5NBN, PCNA
4protein N-terminus bindingGO:00474859.3ATM, NBN
5ATP-dependent DNA helicase activityGO:00040038.8MRE11A, NBN, RAD50

Sources for Ataxia-Telangiectasia-Like Disorder

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet