MCID: ATX006
MIFTS: 49

Ataxia-Telangiectasia-Like Disorder malady

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder

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Aliases & Descriptions for Ataxia-Telangiectasia-Like Disorder:

Name: Ataxia-Telangiectasia-Like Disorder 49 11 22 47 51 67
Ataxia-Telangiectasia-Like Disorder 2 67 24 65
Atld 22 51 67
Ataxia-Telangiectasia-Like Disorder 1 67 65
 
Ataxia-Telangiectasia-Like Syndrome 24
Atld1 67
Atld2 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
ataxia-telangiectasia-like disorder:
Onset and clinical course: progressive
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

Orphanet51 251347
UMLS via Orphanet66 C1859598
UMLS65 C4012790, C4014676

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 ataxia-telangiectasia-like disorder 2, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and hepatocellular carcinoma, and has symptoms including microcephaly, flexion contracture and impaired smooth pursuit. 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 Prostate Cancer and Integrated Breast Cancer Pathway. Affiliated tissues include eye and skin, and related mouse phenotypes are tumorigenesis and reproductive system.

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 27)
id Description Frequency HPO Source Accession
1 microcephaly rare (5%) HP:0000252
2 flexion contracture rare (5%) HP:0001371
3 impaired smooth pursuit HP:0007772
4 distal amyotrophy HP:0003693
5 frequent falls HP:0002359
6 dysdiadochokinesis HP:0002075
7 chorea HP:0002072
8 gait ataxia HP:0002066
9 lower limb spasticity HP:0002061
10 dystonia HP:0001332
11 cerebellar atrophy HP:0001272
12 hyporeflexia HP:0001265
13 dysarthria HP:0001260
14 telangiectasia HP:0001009
15 oculomotor apraxia HP:0000657
16 gaze-evoked nystagmus HP:0000640
17 hypometric saccades HP:0000571
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:

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 MRE11A

Anatomical Context for Ataxia-Telangiectasia-Like Disorder

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

33
Eye, Skin

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:00020068.9MRE11A, NBN, RAD50
2MP:00053898.3MRE11A, NBN, PCNA, RAD50
3MP:00053878.0MRE11A, NBN, PCNA, RAD50
4MP:00053977.9MRE11A, 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
Mitochondrial decay and impairment of antioxidant defenses in aging RPE cells. (20238015)
2010
2
Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. (20202148)
2010
3
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. (18271004)
2008
4
Physiology of schizophrenia, bipolar disorder, and schizoaffective disorder. (18056246)
2007
5
Reproduction of postprandial symptoms with cholecystokinin injection: an indication for cholecystectomy without the presence of gallstones or an abnormal ejection fraction on quantitative cholescintigraphy? (17674942)
2007
6
Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy. (15317754)
2004
7
Burkitt's lymphoma in Kenya: geographical, age, gender and ethnic distribution. (15622605)
2004
8
EROD activity, serum SDH and PAH biliary metabolites in sand flathead (Platycephalus bassensis) collected in Port Phillip Bay, Australia. (11954740)
2002
9
Picture of the month. Mycobacterium marinum facial abscess. (10323638)
1999
10
Treatment of verrucous carcinoma with recombinant alfa-interferon. (7727836)
1995
11
Ki67 antigen immunostaining (MIB 1 monoclonal antibody) in serous ovarian tumors: index of proliferative activity with prognostic significance. (7896180)
1995
12
Missed case of congenital syphilis. (1800759)
1991

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 pathogenicrs587782308GRCh37Chr 11, 94211948: 94211948
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 variantPathogenicrs730880378GRCh38Chr 11, 94490846: 94490846
4MRE11ANM_005591.3(MRE11A): c.497C> T (p.Pro166Leu)single nucleotide variantLikely pathogenicrs587782308GRCh37Chr 11, 94211948: 94211948
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 27)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4MRE11A, RAD50
29.4MRE11A, RAD50
39.1MRE11A, NBN
49.0NBN, PCNA
58.8MRE11A, PCNA, RAD50
6
Show member pathways
8.6MRE11A, NBN, RAD50
78.6MRE11A, NBN, RAD50
8
Show member pathways
8.6MRE11A, NBN, RAD50
9
Show member pathways
8.6MRE11A, NBN, RAD50
10
Show member pathways
8.6MRE11A, NBN, RAD50
11
Show member pathways
8.6MRE11A, NBN, RAD50
12
Show member pathways
8.6MRE11A, NBN, RAD50
13
Show member pathways
8.6MRE11A, NBN, RAD50
148.6MRE11A, NBN, RAD50
15
Show member pathways
8.6MRE11A, NBN, RAD50
16
Show member pathways
8.6MRE11A, NBN, RAD50
178.6MRE11A, NBN, RAD50
18
Show member pathways
8.6MRE11A, NBN, RAD50
19
Show member pathways
8.0MRE11A, NBN, PCNA, RAD50
20
Show member pathways
8.0MRE11A, NBN, PCNA, RAD50
218.0MRE11A, NBN, PCNA, RAD50
22
Show member pathways
8.0MRE11A, NBN, PCNA, RAD50
23
Show member pathways
8.0MRE11A, NBN, PCNA, RAD50
24
Show member pathways
8.0MRE11A, NBN, PCNA, RAD50
25
Show member pathways
8.0MRE11A, NBN, PCNA, RAD50
268.0MRE11A, NBN, PCNA, RAD50
27
Show member pathways
8.0MRE11A, 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:00166059.1MRE11A, NBN

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of mitotic recombinationGO:000001910.0MRE11A, RAD50
2negative regulation of telomere cappingGO:19043549.7NBN, RAD50
3mitotic G2 DNA damage checkpointGO:00070959.6MRE11A, NBN
4telomere maintenance via recombinationGO:00007229.6PCNA, RAD50
5nucleic acid phosphodiester bond hydrolysisGO:00903059.4MRE11A, RAD50
6DNA synthesis involved in DNA repairGO:00007319.4NBN, RAD50
7telomeric 3 overhang formationGO:00318609.3MRE11A, NBN
8cellular response to DNA damage stimulusGO:00069749.2MRE11A, NBN
9positive regulation of kinase activityGO:00336749.1MRE11A, NBN, RAD50
10DNA duplex unwindingGO:00325089.1MRE11A, NBN, RAD50
11double-strand break repair via synthesis-dependent strand annealingGO:00450038.9MRE11A, NBN, RAD50
12strand displacementGO:00007328.9MRE11A, NBN, RAD50
13positive regulation of protein autophosphorylationGO:00319548.8MRE11A, NBN, RAD50
14DNA replicationGO:00062608.6MRE11A, NBN, RAD50

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

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent DNA helicase activityGO:00040039.4MRE11A, 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