MCID: ATX040
MIFTS: 41

Ataxia-Telangiectasia-Like Disorder 1

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 1

MalaCards integrated aliases for Ataxia-Telangiectasia-Like Disorder 1:

Name: Ataxia-Telangiectasia-Like Disorder 1 53 71 28 69
Ataxia-Telangiectasia-Like Disorder 55 71 28 13 51
Atld 53 55 71
Atld1 53 71

Characteristics:

Orphanet epidemiological data:

55
ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in early childhood


HPO:

31
ataxia-telangiectasia-like disorder 1:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia-Like Disorder 1

OMIM : 53 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999). (604391)

MalaCards based summary : Ataxia-Telangiectasia-Like Disorder 1, also known as ataxia-telangiectasia-like disorder, is related to ataxia-telangiectasia-like disorder 2 and alpha-thalassemia/mental retardation syndrome, x-linked, and has symptoms including dystonia, dysdiadochokinesis and gait ataxia. An important gene associated with Ataxia-Telangiectasia-Like Disorder 1 is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Cell Cycle Checkpoints. Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Ataxia-Telangiectasia-Like Disorder 1

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2

Diseases related to Ataxia-Telangiectasia-Like Disorder 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 2 10.9
2 alpha-thalassemia/mental retardation syndrome, x-linked 9.7 MRE11 NBN
3 hereditary breast ovarian cancer syndrome 9.6 MRE11 NBN
4 nijmegen breakage syndrome 9.6 MRE11 NBN
5 ataxia-telangiectasia 9.5 MRE11 NBN
6 fanconi anemia, complementation group a 9.4 MRE11 NBN

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia-Like Disorder 1:



Diseases related to Ataxia-Telangiectasia-Like Disorder 1

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder 1

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
dystonia
dysdiadochokinesis
gait ataxia
dysarthria
chorea
more
Head And Neck Eyes:
oculomotor apraxia
impaired smooth pursuit
gaze-evoked nystagmus
hypometric saccades

Laboratory Abnormalities:
cells show increased sensitivity to ionizing radiation
defective dna repair
chromosomal instability

Neurologic Peripheral Nervous System:
hyporeflexia

Muscle Soft Tissue:
distal muscle wasting, mild


Clinical features from OMIM:

604391

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder 1:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 HP:0001332
2 dysdiadochokinesis 31 HP:0002075
3 gait ataxia 31 HP:0002066
4 dysarthria 31 HP:0001260
5 chorea 31 HP:0002072
6 hyporeflexia 31 HP:0001265
7 cerebellar atrophy 31 HP:0001272
8 oculomotor apraxia 31 HP:0000657
9 telangiectasia 31 HP:0001009
10 distal amyotrophy 31 HP:0003693
11 lower limb spasticity 31 HP:0002061
12 impaired smooth pursuit 31 HP:0007772
13 frequent falls 31 HP:0002359
14 gaze-evoked nystagmus 31 HP:0000640
15 hypometric saccades 31 HP:0000571

UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder 1:


dysdiadochokinesis, gait ataxia

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Ataxia-Telangiectasia-Like Disorder 1

Genetic Tests for Ataxia-Telangiectasia-Like Disorder 1

Genetic tests related to Ataxia-Telangiectasia-Like Disorder 1:

# Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder 1 28 MRE11
2 Ataxia-Telangiectasia-Like Disorder 28

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

MalaCards organs/tissues related to Ataxia-Telangiectasia-Like Disorder 1:

38
Eye, Skin

Publications for Ataxia-Telangiectasia-Like Disorder 1

Articles related to Ataxia-Telangiectasia-Like Disorder 1:

(show all 13)
# Title Authors Year
1
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )
2017
2
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )
2014
3
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )
2013
4
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ( 20087742 )
2010
5
Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma. ( 19732584 )
2009
6
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ( 18652530 )
2008
7
Ophthalmic features of ataxia telangiectasia-like disorder. ( 18083591 )
2008
8
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. ( 15574463 )
2005
9
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. ( 15279810 )
2004
10
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. ( 15269180 )
2004
11
Regulation of Mre11/Rad50 by Nbs1: effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. ( 12966088 )
2003
12
Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder. ( 11481721 )
2001
13
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 1

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

71
# Symbol AA change Variation ID SNP ID
1 MRE11 p.Asn117Ser VAR_008513 rs137852760

ClinVar genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRE11 NM_005591.3(MRE11): c.1897C> T (p.Arg633Ter) single nucleotide variant Pathogenic rs137852759 GRCh37 Chromosome 11, 94170372: 94170372
2 MRE11 NM_005591.3(MRE11): c.1714C> T (p.Arg572Ter) single nucleotide variant Pathogenic rs137852761 GRCh37 Chromosome 11, 94180454: 94180454
3 MRE11 NM_005591.3(MRE11): c.1442C> A (p.Thr481Lys) single nucleotide variant Pathogenic rs137852762 GRCh37 Chromosome 11, 94192632: 94192632
4 MRE11 NM_005591.3(MRE11): c.630G> C (p.Trp210Cys) single nucleotide variant Pathogenic rs137852763 GRCh37 Chromosome 11, 94209484: 94209484
5 MRE11 NM_005591.3(MRE11): c.739dupC (p.His247Profs) duplication Pathogenic rs786203931 GRCh37 Chromosome 11, 94204846: 94204846
6 MRE11 NM_005591.3(MRE11): c.659+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs759130031 GRCh37 Chromosome 11, 94209454: 94209454
7 MRE11 NC_000011.10: g.(?_94476283)_(94478882_?)dup duplication Likely pathogenic GRCh38 Chromosome 11, 94476283: 94478882

Expression for Ataxia-Telangiectasia-Like Disorder 1

Search GEO for disease gene expression data for Ataxia-Telangiectasia-Like Disorder 1.

Pathways for Ataxia-Telangiectasia-Like Disorder 1

Pathways related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 MRE11 NBN
2
Show member pathways
12.15 MRE11 NBN
3 12.03 MRE11 NBN
4
Show member pathways
12.01 MRE11 NBN
5
Show member pathways
11.9 MRE11 NBN
6
Show member pathways
11.88 MRE11 NBN
7
Show member pathways
11.86 MRE11 NBN
8
Show member pathways
11.79 MRE11 NBN
9 11.68 MRE11 NBN
10
Show member pathways
11.64 MRE11 NBN
11
Show member pathways
11.46 MRE11 NBN
12
Show member pathways
11.34 MRE11 NBN
13
Show member pathways
11.29 MRE11 NBN
14 11.14 MRE11 NBN
15 10.92 MRE11 NBN
16 10.62 MRE11 NBN
17 10.34 MRE11 NBN
18
Show member pathways
9.83 MRE11 NBN

GO Terms for Ataxia-Telangiectasia-Like Disorder 1

Cellular components related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.37 MRE11 NBN
2 nuclear chromosome, telomeric region GO:0000784 9.32 MRE11 NBN
3 PML body GO:0016605 9.26 MRE11 NBN
4 chromosome, telomeric region GO:0000781 9.16 MRE11 NBN
5 site of double-strand break GO:0035861 8.96 MRE11 NBN
6 Mre11 complex GO:0030870 8.62 MRE11 NBN

Biological processes related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.58 MRE11 NBN
2 cell proliferation GO:0008283 9.57 MRE11 NBN
3 DNA repair GO:0006281 9.56 MRE11 NBN
4 DNA replication GO:0006260 9.55 MRE11 NBN
5 regulation of signal transduction by p53 class mediator GO:1901796 9.54 MRE11 NBN
6 meiotic cell cycle GO:0051321 9.52 MRE11 NBN
7 double-strand break repair via homologous recombination GO:0000724 9.51 MRE11 NBN
8 double-strand break repair via nonhomologous end joining GO:0006303 9.49 MRE11 NBN
9 double-strand break repair GO:0006302 9.48 MRE11 NBN
10 DNA duplex unwinding GO:0032508 9.46 MRE11 NBN
11 DNA synthesis involved in DNA repair GO:0000731 9.43 MRE11 NBN
12 strand displacement GO:0000732 9.4 MRE11 NBN
13 positive regulation of protein autophosphorylation GO:0031954 9.37 MRE11 NBN
14 mitotic G2 DNA damage checkpoint GO:0007095 9.32 MRE11 NBN
15 DNA double-strand break processing GO:0000729 9.26 MRE11 NBN
16 positive regulation of kinase activity GO:0033674 9.16 MRE11 NBN
17 positive regulation of telomere maintenance GO:0032206 8.96 MRE11 NBN
18 telomeric 3 overhang formation GO:0031860 8.62 MRE11 NBN

Molecular functions related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA helicase activity GO:0004003 8.62 MRE11 NBN

Sources for Ataxia-Telangiectasia-Like Disorder 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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