MCID: ATX038
MIFTS: 38

Ataxia and Polyneuropathy, Adult-Onset

Categories: Genetic diseases

Aliases & Classifications for Ataxia and Polyneuropathy, Adult-Onset

MalaCards integrated aliases for Ataxia and Polyneuropathy, Adult-Onset:

Name: Ataxia and Polyneuropathy, Adult-Onset 53 71
Ataxia 41 28
Apao 71

Classifications:



External Ids:

OMIM 53 500010
MedGen 39 C1838916
ICD10 32 R27.0

Summaries for Ataxia and Polyneuropathy, Adult-Onset

UniProtKB/Swiss-Prot : 71 Ataxia and polyneuropathy, adult-onset: A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.

MalaCards based summary : Ataxia and Polyneuropathy, Adult-Onset, also known as ataxia, is related to ataxia-oculomotor apraxia 3 and aceruloplasminemia. An important gene associated with Ataxia and Polyneuropathy, Adult-Onset is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways is HTLV-I infection. Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Description from OMIM: 500010

Related Diseases for Ataxia and Polyneuropathy, Adult-Onset

Diseases related to Ataxia and Polyneuropathy, Adult-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1146)
# Related Disease Score Top Affiliating Genes
1 ataxia-oculomotor apraxia 3 31.8 ATM MT-ATP6 NPC1 SLC2A1
2 aceruloplasminemia 31.0 ATM MT-ATP6 NPC1 SLC2A1
3 alacrima, achalasia, and mental retardation syndrome 28.9 EBF3 SLC2A1
4 friedreich ataxia 1 12.5
5 ataxia-telangiectasia 12.4
6 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.4
7 spastic ataxia, charlevoix-saguenay type 12.4
8 episodic ataxia, type 2 12.3
9 spinocerebellar ataxia 2 12.3
10 spinocerebellar ataxia 1 12.3
11 spinocerebellar ataxia 7 12.3
12 spinocerebellar ataxia 6 12.3
13 episodic ataxia, type 1 12.3
14 spinocerebellar ataxia, autosomal recessive 8 12.3
15 spinocerebellar ataxia 34 12.3
16 spinocerebellar ataxia 36 12.3
17 autosomal dominant cerebellar ataxia 12.3
18 spinocerebellar ataxia 13 12.3
19 spinocerebellar ataxia 20 12.3
20 anemia, sideroblastic, and spinocerebellar ataxia 12.3
21 spinocerebellar ataxia 31 12.2
22 spinocerebellar ataxia 5 12.2
23 spinocerebellar ataxia 10 12.2
24 spinocerebellar ataxia 17 12.2
25 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.2
26 spinocerebellar ataxia 27 12.2
27 spinocerebellar ataxia 21 12.2
28 spinocerebellar ataxia, autosomal recessive 7 12.2
29 spinocerebellar ataxia 8 12.2
30 spinocerebellar ataxia 11 12.2
31 spinocerebellar ataxia 23 12.2
32 spinocerebellar ataxia 28 12.2
33 hereditary ataxia 12.2
34 posterior column ataxia with retinitis pigmentosa 12.2
35 spinocerebellar ataxia 14 12.2
36 spinocerebellar ataxia 12 12.2
37 cerebellar ataxia, cayman type 12.2
38 episodic ataxia 12.2
39 spinocerebellar ataxia 38 12.2
40 spinocerebellar ataxia 29 12.2
41 spinocerebellar ataxia 26 12.2
42 spinocerebellar ataxia, autosomal recessive 15 12.2
43 spinocerebellar ataxia 15 12.2
44 spinocerebellar ataxia 4 12.2
45 spinocerebellar ataxia, autosomal recessive 1 12.2
46 spinocerebellar ataxia 35 12.2
47 spinocerebellar ataxia 37 12.2
48 ataxia with vitamin e deficiency 12.2
49 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.2
50 spinocerebellar ataxia 18 12.1

Graphical network of the top 20 diseases related to Ataxia and Polyneuropathy, Adult-Onset:



Diseases related to Ataxia and Polyneuropathy, Adult-Onset

Symptoms & Phenotypes for Ataxia and Polyneuropathy, Adult-Onset

Clinical features from OMIM:

500010

GenomeRNAi Phenotypes related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 ATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.66 ATM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.66 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.66 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.66 SLC2A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.66 SLC2A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.66 ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 ATM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.66 SLC2A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.66 ATM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.66 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 SLC2A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.66 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.66 ATM SLC2A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.66 SLC2A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.66 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 ATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 ATM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.66 SLC2A1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.66 SLC2A1

Drugs & Therapeutics for Ataxia and Polyneuropathy, Adult-Onset

Search Clinical Trials , NIH Clinical Center for Ataxia and Polyneuropathy, Adult-Onset

Cochrane evidence based reviews: ataxia

Genetic Tests for Ataxia and Polyneuropathy, Adult-Onset

Genetic tests related to Ataxia and Polyneuropathy, Adult-Onset:

# Genetic test Affiliating Genes
1 Ataxia 28

Anatomical Context for Ataxia and Polyneuropathy, Adult-Onset

MalaCards organs/tissues related to Ataxia and Polyneuropathy, Adult-Onset:

38
Eye

Publications for Ataxia and Polyneuropathy, Adult-Onset

Articles related to Ataxia and Polyneuropathy, Adult-Onset:

(show top 50) (show all 4855)
# Title Authors Year
1
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
2
Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. ( 29411683 )
2018
3
A novel mutation in SLC1A3 causes episodic ataxia. ( 29208948 )
2018
4
The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 29427106 )
2018
5
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29236946 )
2018
6
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. ( 29356829 )
2018
7
POLR3A variants in hereditary spastic paraplegia and ataxia. ( 29228109 )
2018
8
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
9
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
10
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
11
Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )
2018
12
Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins. ( 29434023 )
2018
13
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
14
Homozygous<i>CAPN1</i>mutations causing a spastic-ataxia phenotype in 2 families. ( 29379883 )
2018
15
Lambert-Eaton myasthenic syndrome and cerebellar ataxia: Is response to immunotherapy a clue to pathogenesis? ( 29365352 )
2018
16
Fragile X syndrome and fragile X-associated tremor ataxia syndrome. ( 29325626 )
2018
17
Asymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area. ( 29199507 )
2018
18
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
19
Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )
2018
20
Intravenous immunoglobulin with prednisone and risk-adapted chemotherapy for children with opsoclonus myoclonus ataxia syndrome associated with neuroblastoma (ANBL00P3): a randomised, open-label, phase 3 trial. ( 29376112 )
2018
21
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
22
Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome? ( 29389022 )
2018
23
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ( 29416937 )
2018
24
Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. ( 29379980 )
2018
25
<sup>1</sup> H,<sup>15</sup>N, and<sup>13</sup>C chemical shift assignments of the micelle immersed FAT C-terminal (FATC) domains of the human protein kinases ataxia-telangiectasia mutated (ATM) and DNA-dependent protein kinase catalytic subunit (DNA-PKcs) fused to the B1 domain of streptococcal protein G (GB1). ( 29349619 )
2018
26
A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis. ( 29442233 )
2018
27
Dexamethasone-Based Multimodal Therapy for Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: Is It Really Superior? ( 29169870 )
2018
28
Acute Cerebellar Ataxia Associated with Anti-glutamic Acid Decarboxylase Antibodies Mimicking Miller Fisher Syndrome. ( 29093402 )
2018
29
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
30
The influence of lower limb impairments on RaceRunning performance in athletes with hypertonia, ataxia or athetosis. ( 29433091 )
2018
31
Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature. ( 29266039 )
2018
32
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )
2018
33
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. ( 29044765 )
2018
34
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. ( 29362493 )
2018
35
HIV-associated opsoclonus-myoclonus-ataxia syndrome: early infection, immune reconstitution syndrome or secondary to other diseases? Case report and literature review. ( 29243132 )
2018
36
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
37
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
38
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 28444183 )
2017
39
Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. ( 28131213 )
2017
40
Growth hormone treatment in patients with ataxia telangiectasia. ( 28948852 )
2017
41
Impaired peripheral reaching and on-line corrections in patient DF: Optic ataxia with visual form agnosia. ( 28532578 )
2017
42
Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats. ( 28894083 )
2017
43
TGM6 gene mutations in undiagnosed cerebellar ataxia patients. ( 28927799 )
2017
44
Pharmacological therapeutics in Friedreich ataxia: the present state. ( 28724340 )
2017
45
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. ( 28423040 )
2017
46
Low-Titre GAD Antibody-Associated Late-Onset Cerebellar Ataxia with a Significant Clinical Response to Intravenous Immunoglobulin Treatment. ( 28321713 )
2017
47
Therapeutic plasma exchange for a case of refractory opsoclonus myoclonus ataxia syndrome. ( 28926689 )
2017
48
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. ( 28483396 )
2017
49
Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. ( 28791574 )
2017
50
Spinocerebellar Ataxia 27: Clinical Phenotype of Twin Sisters with FGF14 Deletion. ( 28192817 )
2017

Variations for Ataxia and Polyneuropathy, Adult-Onset

UniProtKB/Swiss-Prot genetic disease variations for Ataxia and Polyneuropathy, Adult-Onset:

71
# Symbol AA change Variation ID SNP ID
1 MT-ATP6 p.Leu156Pro VAR_000794 rs199476133

ClinVar genetic disease variations for Ataxia and Polyneuropathy, Adult-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
2 SETX NM_015046.6(SETX): c.5222dup (p.Asp1742Argfs) duplication Pathogenic/Likely pathogenic rs730882209 GRCh38 Chromosome 9, 132326376: 132326376
3 PTRH2 NM_016077.4(PTRH2): c.254A> C (p.Gln85Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882234 GRCh38 Chromosome 17, 59697725: 59697725
4 NPC1 NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala) single nucleotide variant Pathogenic rs80358257 GRCh37 Chromosome 18, 21118528: 21118528
5 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
6 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
7 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh37 Chromosome 1, 43396343: 43396343
8 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
9 NPC1 NM_000271.4(NPC1): c.1421C> T (p.Pro474Leu) single nucleotide variant Pathogenic rs372445155 GRCh38 Chromosome 18, 23554890: 23554890

Expression for Ataxia and Polyneuropathy, Adult-Onset

Search GEO for disease gene expression data for Ataxia and Polyneuropathy, Adult-Onset.

Pathways for Ataxia and Polyneuropathy, Adult-Onset

Pathways related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 ATM SLC2A1

GO Terms for Ataxia and Polyneuropathy, Adult-Onset

Cellular components related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 8.96 NPC1 SLC2A1
2 vesicle GO:0031982 8.62 NPC1 SLC2A1

Biological processes related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 8.62 ATM NPC1

Molecular functions related to Ataxia and Polyneuropathy, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.96 MT-ATP6 SLC2A1
2 lipid transporter activity GO:0005319 8.62 ATM NPC1

Sources for Ataxia and Polyneuropathy, Adult-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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