APAO
MCID: ATX038
MIFTS: 41

Ataxia and Polyneuropathy, Adult-Onset (APAO)

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 58 76 6
Ataxia 45 41
Apao 76

Classifications:



External Ids:

OMIM 58 500010
MedGen 43 C1838916

Summaries for Ataxia and Polyneuropathy, Adult-Onset

UniProtKB/Swiss-Prot : 76 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 kearns-sayre syndrome and leigh syndrome. 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 are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye, brain and testes.

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 1358)
# Related Disease Score Top Affiliating Genes
1 kearns-sayre syndrome 31.4 MT-ATP6 MT-ATP8 MT-ND4
2 leigh syndrome 29.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
3 optic nerve disease 29.7 MT-ATP6 MT-ND4 MT-ND4L
4 lactic acidosis 29.2 MT-ATP6 MT-CO3 MT-ND4
5 striatonigral degeneration, infantile 29.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
6 mitochondrial metabolism disease 28.9 MT-ATP6 MT-ND3 MT-ND4
7 mitochondrial myopathy 28.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
8 retinitis pigmentosa 28.6 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
9 mitochondrial complex iv deficiency 28.6 MT-CO3 MT-ND4
10 leber hereditary optic neuropathy 28.2 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
11 mitochondrial encephalomyopathy 28.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
12 ataxia-telangiectasia 12.6
13 friedreich ataxia 1 12.6
14 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.6
15 spastic ataxia, charlevoix-saguenay type 12.6
16 episodic ataxia, type 2 12.5
17 spinocerebellar ataxia 2 12.5
18 spinocerebellar ataxia 1 12.5
19 spinocerebellar ataxia 7 12.5
20 spinocerebellar ataxia 29 12.5
21 spinocerebellar ataxia 6 12.5
22 spinocerebellar ataxia, autosomal recessive 1 12.5
23 spinocerebellar ataxia 34 12.5
24 episodic ataxia, type 1 12.5
25 spinocerebellar ataxia 36 12.5
26 spinocerebellar ataxia 31 12.5
27 spinocerebellar ataxia, autosomal recessive 8 12.5
28 spinocerebellar ataxia 10 12.5
29 autosomal dominant cerebellar ataxia 12.5
30 spinocerebellar ataxia 13 12.4
31 spinocerebellar ataxia 20 12.4
32 spinocerebellar ataxia 27 12.4
33 spinocerebellar ataxia 21 12.4
34 spinocerebellar ataxia 17 12.4
35 spinocerebellar ataxia 23 12.4
36 spinocerebellar ataxia 14 12.4
37 anemia, sideroblastic, and spinocerebellar ataxia 12.4
38 spinocerebellar ataxia 26 12.4
39 spinocerebellar ataxia 11 12.4
40 ataxia with vitamin e deficiency 12.4
41 spinocerebellar ataxia 5 12.4
42 spinocerebellar ataxia 12 12.4
43 spinocerebellar ataxia 28 12.4
44 spinocerebellar ataxia 8 12.4
45 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.4
46 spinocerebellar ataxia, autosomal recessive 7 12.4
47 hereditary ataxia 12.4
48 spinocerebellar ataxia 38 12.4
49 posterior column ataxia with retinitis pigmentosa 12.4
50 cerebellar ataxia, cayman type 12.4

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

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

Anatomical Context for Ataxia and Polyneuropathy, Adult-Onset

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

42
Eye, Brain, Testes, Cerebellum, Heart, Cortex, Bone

Publications for Ataxia and Polyneuropathy, Adult-Onset

Articles related to Ataxia and Polyneuropathy, Adult-Onset:

(show top 50) (show all 1257)
# Title Authors Year
1
Quantification of trunk segmental coordination and head stability in laterally unstable sitting identifies aging and cerebellar ataxia. ( 30889431 )
2019
2
A new MRI marker of ataxia with oculomotor apraxia. ( 30599859 )
2019
3
Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. ( 30642639 )
2019
4
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). ( 30778901 )
2019
5
Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers. ( 30746633 )
2019
6
ATM mutation spectrum in Russian children with ataxia-telangiectasia. ( 30772474 )
2019
7
Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S. pneumoniae infection due to oxidative damage and impaired innate immunity. ( 30796268 )
2019
8
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations. ( 30819809 )
2019
9
Arecoline-regulated ataxia telangiectasia mutated expression level in oral cancer progression. ( 30821076 )
2019
10
"Optimization of potent and selective Ataxia Telangiectasia Mutated (ATM) inhibitors suitable for a proof-of-concept study in Huntington's disease models". ( 30840447 )
2019
11
Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome. ( 30854690 )
2019
12
NMR- and MD simulation-based structural characterization of the membrane-associating FATC domain of ataxia telangiectasia mutated. ( 30867195 )
2019
13
Ataxia-Telangiectasia Mutated is located in cardiac mitochondria and impacts oxidative phosphorylation. ( 30886180 )
2019
14
Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation. ( 30888062 )
2019
15
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. ( 30301590 )
2019
16
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. ( 30549301 )
2019
17
GSE4 peptide suppresses oxidative and telomere deficiencies in ataxia telangiectasia patient cells. ( 30670828 )
2019
18
DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients. ( 30679601 )
2019
19
Ataxia-telangiectasia: A review of clinical features and molecular pathology. ( 30685876 )
2019
20
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of Ataxia Telangiectasia mouse model. ( 30745336 )
2019
21
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). ( 30911858 )
2019
22
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. ( 30773800 )
2019
23
Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene. ( 30398676 )
2019
24
Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient. ( 30886755 )
2019
25
Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia. ( 30809419 )
2019
26
Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations. ( 30638816 )
2019
27
Reversible myoclonus-ataxia encephalitis related to anti-mGLUR1 autoantibodies. ( 30759326 )
2019
28
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3. ( 30862413 )
2019
29
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene. ( 30607796 )
2019
30
Episodic ataxia in CASPR2 autoimmunity. ( 30697586 )
2019
31
A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine. ( 30881862 )
2019
32
Low diagnostic accuracy of fragile X tremor/ataxia syndrome diagnostic criteria in late onset ataxia. ( 30735585 )
2019
33
FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]. ( 30771487 )
2019
34
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). ( 30900185 )
2019
35
Gitelman syndrome presenting with cerebellar ataxia: a case report. ( 30756313 )
2019
36
Heart disease in Friedreich's ataxia. ( 30705738 )
2019
37
Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. ( 30847463 )
2019
38
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. ( 30847471 )
2019
39
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. ( 30607023 )
2019
40
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? ( 30800049 )
2019
41
Different patterns of movement-related cortical oscillations in patients with myoclonus and in patients with spinocerebellar ataxia. ( 30889419 )
2019
42
Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy. ( 30684668 )
2019
43
Neurological Manifestations of Neuropathy and Ataxia in Celiac Disease: A Systematic Review. ( 30759885 )
2019
44
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. ( 30850329 )
2019
45
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. ( 30656193 )
2019
46
Pseudo-ataxia due to Osteoid Osteoma. ( 30783555 )
2019
47
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. ( 30656474 )
2019
48
Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report. ( 30634945 )
2019
49
Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7. ( 30625334 )
2019
50
Corrigendum to "Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7" [Neuroscience 400C (2019) 72-84]. ( 30825441 )
2019

Variations for Ataxia and Polyneuropathy, Adult-Onset

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

76
# 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 (show all 16)
# 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 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
3 GRIN2B NM_000834.4(GRIN2B): c.2084T> C (p.Ile695Thr) single nucleotide variant Likely pathogenic rs876661219 GRCh38 Chromosome 12, 13571891: 13571891
4 GRIN2B NM_000834.4(GRIN2B): c.2084T> C (p.Ile695Thr) single nucleotide variant Likely pathogenic rs876661219 GRCh37 Chromosome 12, 13724825: 13724825
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> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
7 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
8 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
9 MT-ND4 NC_012920.1: m.11896C> G single nucleotide variant Uncertain significance rs1057516065 GRCh37 Chromosome MT, 11896: 11896
10 MT-ND4 NC_012920.1: m.11896C> G single nucleotide variant Uncertain significance rs1057516065 GRCh38 Chromosome MT, 11896: 11896
11 MT-CYB NC_012920.1: m.15127C> T single nucleotide variant Uncertain significance rs1057516074 GRCh37 Chromosome MT, 15127: 15127
12 MT-CYB NC_012920.1: m.15127C> T single nucleotide variant Uncertain significance rs1057516074 GRCh38 Chromosome MT, 15127: 15127
13 DNMT1 NM_001130823.2(DNMT1): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs1057518769 GRCh38 Chromosome 19, 10180404: 10180404
14 DNMT1 NM_001130823.2(DNMT1): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs1057518769 GRCh37 Chromosome 19, 10291080: 10291080
15 GRIN2B NM_000834.4(GRIN2B): c.2116A> G (p.Met706Val) single nucleotide variant Likely pathogenic rs1057518988 GRCh38 Chromosome 12, 13571859: 13571859
16 GRIN2B NM_000834.4(GRIN2B): c.2116A> G (p.Met706Val) single nucleotide variant Likely pathogenic rs1057518988 GRCh37 Chromosome 12, 13724793: 13724793

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

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 integral component of membrane GO:0016021 9.93 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
2 mitochondrion GO:0005739 9.73 MT-ATP8 MT-CO3 MT-ND3 MT-ND4
3 respiratory chain GO:0070469 9.5 MT-ND3 MT-ND4 MT-ND4L
4 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND3 MT-ND4 MT-ND4L
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP6 MT-ATP8
6 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
7 mitochondrial membrane GO:0031966 9.26 MT-ATP8 MT-ND3 MT-ND4 MT-ND4L
8 NADH dehydrogenase complex GO:0030964 9.16 MT-ND3 MT-ND4L
9 mitochondrial inner membrane GO:0005743 9.02 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 MT-ND3 MT-ND4 MT-ND4L
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND3 MT-ND4
3 aerobic respiration GO:0009060 9.4 MT-CO3 MT-ND4
4 cristae formation GO:0042407 9.37 MT-ATP6 MT-ATP8
5 ATP biosynthetic process GO:0006754 9.32 MT-ATP6 MT-ATP8
6 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
8 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4 MT-ND4L
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND3 MT-ND4 MT-ND4L

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.33 MT-ND3 MT-ND4 MT-ND4L
2 transmembrane transporter activity GO:0022857 9.26 MT-ATP6 MT-ATP8
3 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP6 MT-ATP8
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND4 MT-ND4L

Sources for Ataxia and Polyneuropathy, Adult-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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