MCID: ATX006
MIFTS: 50

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:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ataxia-Telangiectasia-Like Disorder:

Name: Ataxia-Telangiectasia-Like Disorder 52 24 54 70 12 50
Ataxia-Telangiectasia-Like Disorder 1 52 70 27 68
Ataxia-Telangiectasia-Like Disorder 2 52 70 27 68
Atld 24 54 70
 
Pcna-Related Progressive Neurodegenerative Photosensitivy Syndrome 54
Atld1 70
Atld2 70

Characteristics:

Orphanet epidemiological data:

54
pcna-related progressive neurodegenerative photosensitivy syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
ataxia-telangiectasia-like disorder:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
ataxia-telangiectasia-like disorder:
Inheritance: autosomal recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

UMLS via Orphanet69 C1859598
ICD10 via Orphanet31 G11.3

Summaries for Ataxia-Telangiectasia-Like Disorder

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UniProtKB/Swiss-Prot:70 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 1, is related to ataxia-telangiectasia and ataxia, and has symptoms including microcephaly, flexion contracture and hypometric saccades. An important gene associated with Ataxia-Telangiectasia-Like Disorder is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease), and among its related pathways are GADD45 Pathway and Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include eye, skin and neutrophil, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor).

OMIM:52 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive... (604391) more...

Description from OMIM:52 615919

Related Diseases for Ataxia-Telangiectasia-Like Disorder

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



Diseases related to ataxia-telangiectasia-like disorder

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder

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Symptoms by clinical synopsis from OMIM:

604391

Clinical features from OMIM:

604391,615919

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder:

 64 (show all 27)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 rare (5%) HP:0000252
2 flexion contracture64 rare (5%) HP:0001371
3 hypometric saccades64 HP:0000571
4 gaze-evoked nystagmus64 HP:0000640
5 oculomotor apraxia64 HP:0000657
6 telangiectasia64 HP:0001009
7 dysarthria64 HP:0001260
8 hyporeflexia64 HP:0001265
9 cerebellar atrophy64 HP:0001272
10 dystonia64 HP:0001332
11 lower limb spasticity64 HP:0002061
12 gait ataxia64 HP:0002066
13 chorea64 HP:0002072
14 dysdiadochokinesis64 HP:0002075
15 frequent falls64 HP:0002359
16 distal amyotrophy64 HP:0003693
17 impaired smooth pursuit64 HP:0007772
18 conjunctival telangiectasia64 HP:0000524
19 photophobia64 HP:0000613
20 cutaneous photosensitivity64 HP:0000992
21 ataxia64 HP:0001251
22 global developmental delay64 HP:0001263
23 muscle weakness64 HP:0001324
24 pes cavus64 HP:0001761
25 dysphagia64 HP:0002015
26 neurodegeneration64 HP:0002180
27 unsteady gait64 HP:0002317

UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder:


dysdiadochokinesis, gait ataxia, ataxia, photophobia

GenomeRNAi Phenotypes related to Ataxia-Telangiectasia-Like Disorder according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.3ATM, CHEK2, NBN, PCNA, RAD50
2GR00250-A-14.6ATM, CHEK2, NBN, PCNA, RAD50, ATM

MGI Mouse Phenotypes related to Ataxia-Telangiectasia-Like Disorder according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7ATM, CHEK2, NBN, RAD50
2MP:00053978.3ATM, CHEK2, NBN, PCNA, RAD50
3MP:00053878.3ATM, CHEK2, NBN, PCNA, RAD50

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 Disorder 127
2 Ataxia-Telangiectasia-Like Disorder 227
3 Ataxia-Telangiectasia-Like Disorder24 MRE11

Anatomical Context for Ataxia-Telangiectasia-Like Disorder

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

36
Eye, Skin, Neutrophil, Lung

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:

70
id Symbol AA change Variation ID SNP ID
1MRE11p.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)SNVPathogenicrs369958038GRCh37Chr 20, 5096118: 5096118
2MRE11NM_005591.3(MRE11): c.140C> T (p.Ala47Val)SNVPathogenicrs730880378GRCh37Chr 11, 94224012: 94224012
3MRE11NM_005591.3(MRE11): c.1897C> T (p.Arg633Ter)SNVPathogenicrs137852759GRCh37Chr 11, 94170372: 94170372
4MRE11NM_005591.3(MRE11): c.350A> G (p.Asn117Ser)SNVPathogenicrs137852760GRCh37Chr 11, 94212892: 94212892
5MRE11NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter)SNVPathogenicrs137852761GRCh37Chr 11, 94180454: 94180454
6MRE11NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys)SNVPathogenicrs137852762GRCh37Chr 11, 94192632: 94192632
7MRE11NM_005591.3(MRE11): c.630G> C (p.Trp210Cys)SNVPathogenicrs137852763GRCh37Chr 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
19.4ATM, PCNA
29.3ATM, CHEK2
3
Show member pathways
9.3ATM, CHEK2
4
Show member pathways
9.3ATM, CHEK2
5
Show member pathways
9.3ATM, CHEK2
69.1NBN, RAD50
78.9ATM, CHEK2, PCNA
8
Show member pathways
8.9ATM, CHEK2, PCNA
9
Show member pathways
8.9ATM, CHEK2, PCNA
108.5ATM, NBN, RAD50
11
Show member pathways
8.5ATM, NBN, RAD50
128.5ATM, CHEK2, RAD50
138.4ATM, CHEK2, NBN, PCNA
148.1ATM, NBN, PCNA, RAD50
15
Show member pathways
8.1ATM, NBN, PCNA, RAD50
168.1ATM, CHEK2, PCNA, RAD50
17
Show member pathways
8.0ATM, CHEK2, NBN, RAD50
18
Show member pathways
8.0ATM, CHEK2, NBN, RAD50
19
Show member pathways
8.0ATM, CHEK2, NBN, RAD50
20
Show member pathways
8.0ATM, CHEK2, NBN, RAD50
21
Show member pathways
7.5ATM, CHEK2, NBN, PCNA, RAD50
227.5ATM, CHEK2, NBN, PCNA, RAD50
23
Show member pathways
7.5ATM, CHEK2, NBN, PCNA, RAD50
24
Show member pathways
7.5ATM, CHEK2, NBN, PCNA, RAD50
25
Show member pathways
7.5ATM, CHEK2, NBN, PCNA, RAD50
26
Show member pathways
7.5ATM, CHEK2, NBN, PCNA, RAD50
27
Show member pathways
7.5ATM, CHEK2, 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
1chromosome, telomeric regionGO:000078110.1ATM, CHEK2
2Mre11 complexGO:00308709.9NBN, RAD50
3PML bodyGO:00166059.8CHEK2, NBN
4site of double-strand breakGO:00358619.1NBN, RAD50
5nuclear chromosome, telomeric regionGO:00007848.8ATM, NBN, PCNA, RAD50
6nucleoplasmGO:00056548.1ATM, CHEK2, NBN, PCNA, RAD50

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1DNA damage checkpointGO:000007710.1CHEK2, NBN
2DNA damage induced protein phosphorylationGO:000697510.0ATM, CHEK2
3intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.0ATM, CHEK2
4replicative senescenceGO:00903999.9ATM, CHEK2
5DNA duplex unwindingGO:00325089.8NBN, RAD50
6positive regulation of kinase activityGO:00336749.8NBN, RAD50
7positive regulation of protein autophosphorylationGO:00319549.8NBN, RAD50
8positive regulation of telomere maintenanceGO:00322069.7NBN, RAD50
9reciprocal meiotic recombinationGO:00071319.6ATM, RAD50
10DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.6ATM, CHEK2, PCNA
11telomere maintenance via recombinationGO:00007229.6PCNA, RAD50
12double-strand break repairGO:00063029.3CHEK2, NBN, RAD50
13cellular response to DNA damage stimulusGO:00069749.2ATM, CHEK2, RAD50
14DNA double-strand break processingGO:00007299.2ATM, NBN, RAD50
15DNA replicationGO:00062609.2ATM, NBN, RAD50
16DNA synthesis involved in DNA repairGO:00007319.2ATM, NBN, RAD50
17double-strand break repair via homologous recombinationGO:00007249.2ATM, NBN, RAD50
18double-strand break repair via nonhomologous end joiningGO:00063039.1ATM, NBN, RAD50
19telomere maintenanceGO:00007239.1NBN, PCNA, RAD50
20negative regulation of telomere cappingGO:19043549.1ATM, NBN, RAD50
21telomeric 3 overhang formationGO:00318609.1NBN, RAD50
22telomere maintenance via telomeraseGO:00070049.1ATM, RAD50
23strand displacementGO:00007329.0ATM, NBN, RAD50
24regulation of signal transduction by p53 class mediatorGO:19017968.5ATM, CHEK2, NBN, RAD50

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

idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:000368410.0NBN, PCNA
2ATP-dependent DNA helicase activityGO:00040039.7NBN, RAD50
3protein N-terminus bindingGO:00474859.3ATM, NBN

Sources for Ataxia-Telangiectasia-Like Disorder

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet