ATLD1
MCID: ATX006
MIFTS: 51

Ataxia-Telangiectasia-Like Disorder (ATLD1) 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

Aliases & Descriptions for Ataxia-Telangiectasia-Like Disorder:

Name: Ataxia-Telangiectasia-Like Disorder 54 54 24 56 66 13 52
Ataxia-Telangiectasia-Like Disorder 1 54 66 29 69
Ataxia-Telangiectasia-Like Disorder 2 54 66 29 69
Atld 24 56 66
Pcna-Related Progressive Neurodegenerative Photosensitivy Syndrome 56
Atld1 66
Atld2 66

Characteristics:

Orphanet epidemiological data:

56
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:

32
ataxia-telangiectasia-like disorder:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



External Ids:

UMLS via Orphanet 70 C1859598
ICD10 via Orphanet 34 G11.3

Summaries for Ataxia-Telangiectasia-Like Disorder

UniProtKB/Swiss-Prot : 66 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 ataxia, photophobia and muscle weakness. An important gene associated with Ataxia-Telangiectasia-Like Disorder is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. Affiliated tissues include eye, skin and lung, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

OMIM : 54 Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive... (604391) more...

Related Diseases for Ataxia-Telangiectasia-Like Disorder

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



Diseases related to Ataxia-Telangiectasia-Like Disorder

Symptoms & Phenotypes for Ataxia-Telangiectasia-Like Disorder

Symptoms by clinical synopsis from OMIM:

604391 615919

Clinical features from OMIM:

604391 615919

Human phenotypes related to Ataxia-Telangiectasia-Like Disorder:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 photophobia 32 HP:0000613
3 muscle weakness 32 HP:0001324
4 dystonia 32 HP:0001332
5 dysdiadochokinesis 32 HP:0002075
6 gait ataxia 32 HP:0002066
7 dysarthria 32 HP:0001260
8 dysphagia 32 HP:0002015
9 chorea 32 HP:0002072
10 global developmental delay 32 HP:0001263
11 microcephaly 32 HP:0000252
12 short stature 32 HP:0004322
13 flexion contracture 32 HP:0001371
14 pes cavus 32 HP:0001761
15 conjunctival telangiectasia 32 HP:0000524
16 neurodegeneration 32 HP:0002180
17 hyporeflexia 32 HP:0001265
18 cutaneous photosensitivity 32 HP:0000992
19 cerebellar atrophy 32 HP:0001272
20 oculomotor apraxia 32 HP:0000657
21 unsteady gait 32 HP:0002317
22 telangiectasia 32 HP:0001009
23 distal amyotrophy 32 HP:0003693
24 progressive muscle weakness 32 HP:0003323
25 lower limb spasticity 32 HP:0002061
26 impaired smooth pursuit 32 HP:0007772
27 gaze-evoked nystagmus 32 HP:0000640
28 frequent falls 32 HP:0002359
29 hypometric saccades 32 HP:0000571

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 PCNA RAD50 ATM CHEK2 MRE11 NBN
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 RAD50 ATM CHEK2 MRE11 NBN PCNA
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 ATM CHEK2 MRE11 NBN PCNA RAD50

MGI Mouse Phenotypes related to Ataxia-Telangiectasia-Like Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.85 ATM CHEK2 MRE11 NBN PCNA RAD50
2 endocrine/exocrine gland MP:0005379 9.8 ATM CHEK2 NBN PCNA RAD50
3 immune system MP:0005387 9.8 ATM CHEK2 MRE11 NBN PCNA RAD50
4 mortality/aging MP:0010768 9.73 ATM CHEK2 MRE11 NBN PCNA RAD50
5 neoplasm MP:0002006 9.55 ATM CHEK2 MRE11 NBN RAD50
6 nervous system MP:0003631 9.35 ATM CHEK2 MRE11 NBN RAD50
7 reproductive system MP:0005389 9.02 ATM MRE11 NBN PCNA RAD50

Drugs & Therapeutics for Ataxia-Telangiectasia-Like Disorder

Interventional clinical trials:


id Name Status NCT ID Phase
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

Genetic Tests for Ataxia-Telangiectasia-Like Disorder

Genetic tests related to Ataxia-Telangiectasia-Like Disorder:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia-Like Disorder 1 29
2 Ataxia-Telangiectasia-Like Disorder 2 29
3 Ataxia-Telangiectasia-Like Disorder 24 MRE11

Anatomical Context for Ataxia-Telangiectasia-Like Disorder

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

39
Eye, Skin, Lung, Neutrophil

Publications for Ataxia-Telangiectasia-Like Disorder

Articles related to Ataxia-Telangiectasia-Like Disorder:

(show all 12)
id Title Authors Year
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
Ophthalmic features of ataxia telangiectasia-like disorder. ( 18083591 )
2008
6
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ( 18652530 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 MRE11 p.Asn117Ser VAR_008513 rs137852760
2 PCNA p.Ser228Ile VAR_071871 rs369958038

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

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 PCNA NM_002592.2(PCNA): c.683G> T (p.Ser228Ile) single nucleotide variant Pathogenic rs369958038 GRCh37 Chromosome 20, 5096118: 5096118
6 MRE11 NM_005591.3(MRE11): c.140C> T (p.Ala47Val) single nucleotide variant Pathogenic rs730880378 GRCh37 Chromosome 11, 94224012: 94224012
7 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

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

Pathways for Ataxia-Telangiectasia-Like Disorder

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

(show all 35)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 ATM CHEK2 MRE11 NBN PCNA RAD50
2
Show member pathways
13.24 ATM CHEK2 MRE11 NBN PCNA RAD50
3
Show member pathways
13.05 ATM CHEK2 MRE11 NBN PCNA RAD50
4
Show member pathways
12.9 ATM MRE11 NBN RAD50
5
Show member pathways
12.81 ATM CHEK2 MRE11 NBN PCNA RAD50
6
Show member pathways
12.75 ATM CHEK2 MRE11 NBN PCNA RAD50
7
Show member pathways
12.53 ATM CHEK2 MRE11 NBN RAD50
8
Show member pathways
12.49 ATM CHEK2 MRE11 NBN PCNA RAD50
9
Show member pathways
12.38 ATM MRE11 NBN RAD50
10
Show member pathways
12.3 ATM CHEK2 MRE11 NBN RAD50
11
Show member pathways
12.28 ATM CHEK2 MRE11 NBN RAD50
12 12.26 ATM CHEK2 MRE11 NBN PCNA RAD50
13
Show member pathways
12.25 ATM MRE11 NBN RAD50
14 12.23 ATM CHEK2 PCNA
15 12.17 ATM CHEK2 PCNA
16
Show member pathways
12.17 ATM MRE11 NBN PCNA RAD50
17 12.08 ATM CHEK2 MRE11 RAD50
18
Show member pathways
12.07 ATM MRE11 NBN RAD50
19 11.93 ATM CHEK2 PCNA
20
Show member pathways
11.71 ATM CHEK2 MRE11 NBN RAD50
21 11.67 ATM MRE11 NBN RAD50
22
Show member pathways
11.57 ATM CHEK2 MRE11 NBN RAD50
23
Show member pathways
11.53 ATM CHEK2
24 11.48 ATM CHEK2
25 11.43 ATM CHEK2
26 11.42 ATM CHEK2 MRE11 RAD50
27 11.38 ATM CHEK2 NBN PCNA
28
Show member pathways
11.31 ATM CHEK2
29 11.15 ATM PCNA
30 11.13 MRE11 NBN RAD50
31
Show member pathways
11.12 MRE11 NBN RAD50
32 11.02 ATM CHEK2 MRE11 NBN RAD50
33 10.99 ATM CHEK2
34
Show member pathways
10.66 ATM MRE11 NBN RAD50
35 10.48 ATM MRE11 NBN PCNA RAD50

GO Terms for Ataxia-Telangiectasia-Like Disorder

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 ATM CHEK2 MRE11 NBN PCNA RAD50
2 chromosome GO:0005694 9.61 MRE11 NBN RAD50
3 PML body GO:0016605 9.5 CHEK2 MRE11 NBN
4 site of double-strand break GO:0035861 9.43 MRE11 NBN RAD50
5 replication fork GO:0005657 9.4 NBN PCNA
6 nuclear chromosome, telomeric region GO:0000784 9.35 ATM MRE11 NBN PCNA RAD50
7 Mre11 complex GO:0030870 9.33 MRE11 NBN RAD50
8 chromosome, telomeric region GO:0000781 9.02 ATM CHEK2 MRE11 NBN RAD50

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.93 ATM CHEK2 NBN RAD50
2 cell proliferation GO:0008283 9.83 MRE11 NBN PCNA
3 DNA replication GO:0006260 9.83 ATM MRE11 NBN PCNA RAD50
4 double-strand break repair via homologous recombination GO:0000724 9.81 ATM MRE11 NBN RAD50
5 double-strand break repair GO:0006302 9.8 CHEK2 MRE11 NBN RAD50
6 cellular response to DNA damage stimulus GO:0006974 9.8 ATM CHEK2 MRE11 NBN PCNA RAD50
7 meiotic cell cycle GO:0051321 9.79 MRE11 NBN RAD50
8 double-strand break repair via nonhomologous end joining GO:0006303 9.78 ATM MRE11 NBN RAD50
9 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.77 ATM CHEK2 PCNA
10 DNA duplex unwinding GO:0032508 9.77 MRE11 NBN RAD50
11 telomere maintenance GO:0000723 9.76 NBN PCNA RAD50
12 reciprocal meiotic recombination GO:0007131 9.74 ATM MRE11 RAD50
13 positive regulation of protein autophosphorylation GO:0031954 9.73 MRE11 NBN RAD50
14 telomere maintenance via telomerase GO:0007004 9.72 ATM MRE11 RAD50
15 positive regulation of kinase activity GO:0033674 9.71 MRE11 NBN RAD50
16 positive regulation of telomere maintenance GO:0032206 9.7 MRE11 NBN RAD50
17 DNA synthesis involved in DNA repair GO:0000731 9.67 ATM MRE11 NBN RAD50
18 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.65 ATM CHEK2
19 telomere maintenance via recombination GO:0000722 9.65 PCNA RAD50
20 regulation of signal transduction by p53 class mediator GO:1901796 9.65 ATM CHEK2 MRE11 NBN RAD50
21 DNA damage checkpoint GO:0000077 9.64 CHEK2 NBN
22 cellular response to gamma radiation GO:0071480 9.64 ATM CHEK2
23 mitotic G2 DNA damage checkpoint GO:0007095 9.63 MRE11 NBN
24 negative regulation of telomere capping GO:1904354 9.63 ATM NBN RAD50
25 replicative senescence GO:0090399 9.62 ATM CHEK2
26 DNA damage induced protein phosphorylation GO:0006975 9.62 ATM CHEK2
27 chromosome organization involved in meiotic cell cycle GO:0070192 9.61 ATM RAD50
28 regulation of mitotic recombination GO:0000019 9.58 MRE11 RAD50
29 telomeric 3 overhang formation GO:0031860 9.58 MRE11 NBN RAD50
30 strand displacement GO:0000732 9.46 ATM MRE11 NBN RAD50
31 DNA repair GO:0006281 9.43 ATM CHEK2 MRE11 NBN PCNA RAD50
32 DNA double-strand break processing GO:0000729 8.92 ATM MRE11 NBN RAD50

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

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.5 ATM CHEK2 RAD50
2 damaged DNA binding GO:0003684 9.26 NBN PCNA
3 3-5 exonuclease activity GO:0008408 9.16 MRE11 RAD50
4 single-stranded DNA endodeoxyribonuclease activity GO:0000014 8.96 MRE11 RAD50
5 ATP-dependent DNA helicase activity GO:0004003 8.8 MRE11 NBN RAD50

Sources for Ataxia-Telangiectasia-Like Disorder

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....