MCID: ATX006
MIFTS: 52

Ataxia-Telangiectasia-Like Disorder malady

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder

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Sources:
50OMIM, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 25GTR, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ataxia-Telangiectasia-Like Disorder:

Name: Ataxia-Telangiectasia-Like Disorder 50 23 52 68 12 48
Ataxia-Telangiectasia-Like Disorder 2 50 68 25
Atld 23 52 68
Ataxia-Telangiectasia-Like Disorder 1 50 68
 
Pcna-Related Progressive Neurodegenerative Photosensitivy Syndrome 52
Ataxia-Telangiectasia-Like Syndrome 25
Atld1 68
Atld2 68

Characteristics:

Orphanet epidemiological data:

52
ataxia-telangiectasia-like disorder:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
pcna-related progressive neurodegenerative photosensitivy syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
ataxia-telangiectasia-like disorder:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive


Classifications:



External Ids:

UMLS via Orphanet67 C1859598
ICD10 via Orphanet29 G11.3

Summaries for Ataxia-Telangiectasia-Like Disorder

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UniProtKB/Swiss-Prot:68 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 ataxia-telangiectasia-like disorder 2, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and ataxia-telangiectasia, and has symptoms including microcephaly, flexion contracture and hypometric saccades. 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 reproductive system and cellular.

OMIM:50 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive... (604391) more...

Description from OMIM:50 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 27)
id Description Frequency HPO Source Accession
1 microcephaly rare (5%) HP:0000252
2 flexion contracture rare (5%) HP:0001371
3 hypometric saccades HP:0000571
4 gaze-evoked nystagmus HP:0000640
5 oculomotor apraxia HP:0000657
6 telangiectasia HP:0001009
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 distal amyotrophy HP:0003693
17 impaired smooth pursuit HP:0007772
18 conjunctival telangiectasia HP:0000524
19 photophobia HP:0000613
20 cutaneous photosensitivity HP:0000992
21 ataxia HP:0001251
22 global developmental delay HP:0001263
23 muscle weakness HP:0001324
24 pes cavus HP:0001761
25 dysphagia HP:0002015
26 neurodegeneration HP:0002180
27 unsteady gait HP:0002317

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 Disorder25 23 MRE11A
2 Ataxia-Telangiectasia-Like Disorder 225

Anatomical Context for Ataxia-Telangiectasia-Like Disorder

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.9ATM, MRE11A, NBN, PCNA, RAD50
2MP:00053847.8ATM, CHEK2, MRE11A, NBN, RAD50
3MP:00020067.8ATM, CHEK2, MRE11A, NBN, RAD50
4MP:00053877.5ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
5MP:00053977.2ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
6MP:00107687.1ATM, 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
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. (18652530)
2008
6
Ophthalmic features of ataxia telangiectasia-like disorder. (18083591)
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
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. (15269180)
2004
9
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. (15279810)
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:

68
id Symbol AA change Variation ID SNP ID
1MRE11Ap.Asn117SerVAR_008513rs137852760
2PCNAp.Ser228IleVAR_071871rs369958038

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PCNANM_002592.2(PCNA): c.683G> T (p.Ser228Ile)single nucleotide variantPathogenicrs369958038GRCh37Chr 20, 5096118: 5096118
2MRE11ANM_005591.3(MRE11A): c.140C> T (p.Ala47Val)single nucleotide variantPathogenicrs730880378GRCh37Chr 11, 94224012: 94224012
3MRE11ANM_005591.3(MRE11A): c.1897C> T (p.Arg633Ter)single nucleotide variantPathogenicrs137852759GRCh37Chr 11, 94170372: 94170372
4MRE11ANM_005591.3(MRE11A): c.350A> G (p.Asn117Ser)single nucleotide variantPathogenicrs137852760GRCh37Chr 11, 94212892: 94212892
5MRE11ANM_005591.3(MRE11A): c.1714C> T (p.Arg572Ter)single nucleotide variantPathogenicrs137852761GRCh37Chr 11, 94180454: 94180454
6MRE11ANM_005591.3(MRE11A): c.1442C> A (p.Thr481Lys)single nucleotide variantPathogenicrs137852762GRCh37Chr 11, 94192632: 94192632
7MRE11ANM_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 35)
idSuper pathwaysScoreTop Affiliating Genes
19.5MRE11A, NBN
29.2ATM, PCNA
39.1ATM, CHEK2
4
Show member pathways
9.1ATM, CHEK2
5
Show member pathways
9.1ATM, CHEK2
6
Show member pathways
9.1ATM, CHEK2
7
Show member pathways
8.9MRE11A, NBN, RAD50
88.9MRE11A, NBN, RAD50
9
Show member pathways
8.7ATM, CHEK2, PCNA
108.7ATM, CHEK2, PCNA
118.7ATM, CHEK2, PCNA
128.2ATM, CHEK2, NBN, PCNA
13
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
14
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
158.1ATM, MRE11A, NBN, RAD50
16
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
17
Show member pathways
8.1ATM, MRE11A, NBN, RAD50
188.1ATM, MRE11A, NBN, RAD50
198.1ATM, CHEK2, MRE11A, RAD50
20
Show member pathways
8.1ATM, CHEK2, MRE11A, RAD50
217.6ATM, MRE11A, NBN, PCNA, RAD50
22
Show member pathways
7.6ATM, MRE11A, NBN, PCNA, RAD50
237.6ATM, CHEK2, MRE11A, PCNA, RAD50
24
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
25
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
26
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
27
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
28
Show member pathways
7.6ATM, CHEK2, MRE11A, NBN, RAD50
297.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
30
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
31
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
32
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
33
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
34
Show member pathways
7.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50
35
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
1condensed nuclear chromosomeGO:00007949.8MRE11A, RAD50
2Mre11 complexGO:00308709.6MRE11A, NBN, RAD50
3site of double-strand breakGO:00358619.6MRE11A, NBN, RAD50
4PML bodyGO:00166059.5CHEK2, MRE11A, NBN
5chromosome, telomeric regionGO:00007819.0ATM, CHEK2, MRE11A
6nuclear chromosome, telomeric regionGO:00007848.0ATM, MRE11A, NBN, PCNA, RAD50
7nucleoplasmGO:00056547.1ATM, CHEK2, MRE11A, NBN, PCNA, RAD50

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic recombinationGO:000001910.2MRE11A, RAD50
2mitotic G2 DNA damage checkpointGO:000709510.1MRE11A, NBN
3DNA damage checkpointGO:000007710.0CHEK2, NBN
4DNA recombinationGO:00063109.9MRE11A, RAD50
5telomere maintenance via recombinationGO:00007229.7PCNA, RAD50
6DNA damage induced protein phosphorylationGO:00069759.6ATM, CHEK2
7replicative senescenceGO:00903999.6ATM, CHEK2
8intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6ATM, CHEK2
9positive regulation of protein autophosphorylationGO:00319549.5MRE11A, NBN, RAD50
10nucleic acid phosphodiester bond hydrolysisGO:00903059.5MRE11A, RAD50
11telomeric 3 overhang formationGO:00318609.4MRE11A, NBN, RAD50
12DNA duplex unwindingGO:00325089.2MRE11A, NBN, RAD50
13DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.2ATM, CHEK2, PCNA
14telomere maintenanceGO:00007239.2NBN, PCNA, RAD50
15positive regulation of telomere maintenanceGO:00322069.2MRE11A, NBN, RAD50
16negative regulation of telomere cappingGO:19043549.1ATM, NBN, RAD50
17cell proliferationGO:00082839.1MRE11A, NBN, PCNA
18telomere maintenance via telomeraseGO:00070049.0ATM, MRE11A, RAD50
19DNA repairGO:00062819.0ATM, MRE11A, RAD50
20reciprocal meiotic recombinationGO:00071319.0ATM, MRE11A, RAD50
21positive regulation of kinase activityGO:00336748.9MRE11A, NBN, RAD50
22double-strand break repairGO:00063028.8CHEK2, MRE11A, NBN, RAD50
23double-strand break repair via homologous recombinationGO:00007248.7ATM, MRE11A, NBN, RAD50
24heart developmentGO:00075078.7ATM, MRE11A, PCNA
25double-strand break repair via nonhomologous end joiningGO:00063038.5ATM, MRE11A, NBN, RAD50
26cellular response to DNA damage stimulusGO:00069748.5ATM, CHEK2, MRE11A, RAD50
27strand displacementGO:00007328.4ATM, MRE11A, NBN, RAD50
28DNA synthesis involved in DNA repairGO:00007318.4ATM, MRE11A, NBN, RAD50
29DNA double-strand break processingGO:00007298.4ATM, MRE11A, NBN, RAD50
30regulation of signal transduction by p53 class mediatorGO:19017967.9ATM, CHEK2, MRE11A, NBN, RAD50
31DNA replicationGO:00062607.8ATM, MRE11A, NBN, RAD50

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

idNameGO IDScoreTop Affiliating Genes
13-5 exonuclease activityGO:00084089.9MRE11A, RAD50
2single-stranded DNA endodeoxyribonuclease activityGO:00000149.6MRE11A, RAD50
3damaged DNA bindingGO:00036849.4NBN, PCNA
4ATP-dependent DNA helicase activityGO:00040038.9MRE11A, NBN, RAD50
5protein N-terminus bindingGO:00474858.8ATM, NBN

Sources for Ataxia-Telangiectasia-Like Disorder

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet