MCID: ATX040
MIFTS: 28

Ataxia-Telangiectasia-Like Disorder 1

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

Aliases & Classifications for Ataxia-Telangiectasia-Like Disorder 1

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

Name: Ataxia-Telangiectasia-Like Disorder 1 54 71 29 69
Ataxia-Telangiectasia-Like Disorder 56 71
Atld 56 71
Atld1 71

Characteristics:

Orphanet epidemiological data:

56
ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
variable severity
progressive disorder


HPO:

32
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 : 54
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 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, and has symptoms including dystonia, chorea and dysarthria. An important gene associated with Ataxia-Telangiectasia-Like Disorder 1 is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease). 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:

id Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 2 12.5
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.0
3 ataxia-telangiectasia 10.5
4 ataxia 10.5
5 hypogonadism 9.9
6 adenocarcinoma 9.9
7 cerebellar degeneration 9.9

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:

54

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

Muscle Soft Tissue:
distal muscle wasting, mild

Neurologic- Peripheral Nervous System:
hyporeflexia

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


Clinical features from OMIM:

604391

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

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 chorea 32 HP:0002072
3 dysarthria 32 HP:0001260
4 hyporeflexia 32 HP:0001265
5 oculomotor apraxia 32 HP:0000657
6 frequent falls 32 HP:0002359
7 lower limb spasticity 32 HP:0002061
8 gait ataxia 32 HP:0002066
9 cerebellar atrophy 32 HP:0001272
10 impaired smooth pursuit 32 HP:0007772
11 hypometric saccades 32 HP:0000571
12 dysdiadochokinesis 32 HP:0002075
13 telangiectasia 32 HP:0001009
14 distal amyotrophy 32 HP:0003693
15 gaze-evoked nystagmus 32 HP:0000640

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


dysdiadochokinesis, gait ataxia

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder 1

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder 1 29

Anatomical Context for Ataxia-Telangiectasia-Like Disorder 1

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

39
Eye, Skin

Publications for Ataxia-Telangiectasia-Like Disorder 1

Variations for Ataxia-Telangiectasia-Like Disorder 1

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

71
id 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
id 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.140C> T (p.Ala47Val) single nucleotide variant Pathogenic rs730880378 GRCh38 Chromosome 11, 94490846: 94490846
6 MRE11 NM_005591.3(MRE11): c.659+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs759130031 GRCh37 Chromosome 11, 94209454: 94209454

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

GO Terms for Ataxia-Telangiectasia-Like Disorder 1

Sources for Ataxia-Telangiectasia-Like Disorder 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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