APAO
MCID: ATX038
MIFTS: 40

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 57 75 6
Ataxia 44 40
Apao 75

Classifications:



External Ids:

OMIM 57 500010
MedGen 42 C1838916

Summaries for Ataxia and Polyneuropathy, Adult-Onset

UniProtKB/Swiss-Prot : 75 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 1275)
# Related Disease Score Top Affiliating Genes
1 kearns-sayre syndrome 31.6 MT-ATP6 MT-ATP8 MT-ND4
2 leigh syndrome 30.5 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
3 optic nerve disease 29.8 MT-ATP6 MT-ND4 MT-ND4L
4 striatonigral degeneration, infantile 29.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
5 lactic acidosis 29.2 MT-ATP6 MT-CO3 MT-ND4
6 retinitis pigmentosa 29.2 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
7 mitochondrial myopathy 29.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
8 mitochondrial metabolism disease 29.1 MT-ATP6 MT-ND3 MT-ND4
9 mitochondrial complex iv deficiency 28.8 MT-CO3 MT-ND4
10 leber hereditary optic neuropathy 28.6 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
11 mitochondrial encephalomyopathy 28.4 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
12 friedreich ataxia 1 12.6
13 ataxia-telangiectasia 12.6
14 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.5
15 spastic ataxia, charlevoix-saguenay type 12.5
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 34 12.5
23 spinocerebellar ataxia, autosomal recessive 8 12.4
24 episodic ataxia, type 1 12.4
25 autosomal dominant cerebellar ataxia 12.4
26 spinocerebellar ataxia 36 12.4
27 spinocerebellar ataxia 31 12.4
28 spinocerebellar ataxia 13 12.4
29 spinocerebellar ataxia 10 12.4
30 spinocerebellar ataxia 20 12.4
31 anemia, sideroblastic, and spinocerebellar ataxia 12.4
32 spinocerebellar ataxia 17 12.4
33 spinocerebellar ataxia 27 12.4
34 spinocerebellar ataxia 21 12.4
35 ataxia with vitamin e deficiency 12.4
36 spinocerebellar ataxia 5 12.4
37 spinocerebellar ataxia 23 12.4
38 spinocerebellar ataxia 14 12.4
39 spinocerebellar ataxia 12 12.4
40 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.4
41 spinocerebellar ataxia, autosomal recessive 7 12.4
42 spinocerebellar ataxia 26 12.4
43 spinocerebellar ataxia 8 12.4
44 spinocerebellar ataxia 11 12.4
45 spinocerebellar ataxia 28 12.4
46 hereditary ataxia 12.4
47 posterior column ataxia with retinitis pigmentosa 12.4
48 cerebellar ataxia, cayman type 12.4
49 spinocerebellar ataxia 38 12.4
50 spinocerebellar ataxia, autosomal recessive 13 12.3

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:

41
Eye, Brain, Testes, Liver, Thyroid, T Cells, Cerebellum

Publications for Ataxia and Polyneuropathy, Adult-Onset

Articles related to Ataxia and Polyneuropathy, Adult-Onset:

(show top 50) (show all 639)
# Title Authors Year
1
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. ( 30098094 )
2019
2
Ion channel dysfunction in cerebellar ataxia. ( 29421541 )
2019
3
Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? ( 29421540 )
2019
4
Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin. ( 30125433 )
2019
5
Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. ( 30312605 )
2019
6
Pharmacological enhancement of retinoid-related orphan receptor α function mitigates spinocerebellar ataxia type 3 pathology. ( 30343032 )
2019
7
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. ( 30198223 )
2018
8
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. ( 29356829 )
2018
9
Neurovisual Assessment in Children with Ataxia Telangiectasia. ( 28992644 )
2018
10
Ataxia Telangiectasia Mutated Protein Loss and Benefit From Oxaliplatin-based Chemotherapy in Colorectal Cancer. ( 30042009 )
2018
11
Retroperitoneal extramedullary hematopoietic pseudotumor in ataxia-telangiectasia. ( 30046399 )
2018
12
PATRIOT: A phase I study to assess the tolerability, safety and biological effects of a specific ataxia telangiectasia and Rad3-related (ATR) inhibitor (AZD6738) as a single agent and in combination with palliative radiation therapy in patients with solid tumours. ( 30073210 )
2018
13
Ataxia telangiectasia mutated deficiency does not result in genetic susceptibility to 50 Hz magnetic fields exposure in mouse embryonic fibroblasts. ( 30091795 )
2018
14
Secondary enuresis and urological manifestations in children with ataxia telangiectasia. ( 30100180 )
2018
15
Palbociclib enhances radiosensitivity of hepatocellular carcinoma and cholangiocarcinoma via inhibiting ataxia telangiectasia-mutated kinase-mediated DNA damage response. ( 30103095 )
2018
16
Ataxia-telangiectasia: A review of movement disorders, clinical features and genotype correlations - Addendum. ( 30230625 )
2018
17
Treatment of Granulomas in Patients With Ataxia Telangiectasia. ( 30279689 )
2018
18
A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia. ( 30279714 )
2018
19
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. ( 30301590 )
2018
20
The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia. ( 30338439 )
2018
21
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations. ( 30339652 )
2018
22
Ataxia telangiectasia alters the ApoB and reelin pathway. ( 30343341 )
2018
23
Discovery and Characterization of AZD6738, a Potent Inhibitor of Ataxia Telangiectasia Mutated and Rad3 Related (ATR) Kinase with Application as an Anticancer Agent. ( 30346772 )
2018
24
Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia. ( 30363071 )
2018
25
Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines. ( 30389153 )
2018
26
Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice. ( 30400801 )
2018
27
Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report. ( 30402232 )
2018
28
Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia. ( 30420857 )
2018
29
DNA damage and repair in individuals with ataxia-telangiectasia and their parents. ( 30442337 )
2018
30
Localization of the kinase Ataxia Telangiectasia Mutated to Adenovirus E4 mutant DNA replication centers is important for its inhibitory effect on viral DNA accumulation. ( 30453211 )
2018
31
Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism. ( 30454873 )
2018
32
The Ataxia telangiectasia-mutated and Rad3-related protein kinase regulates cellular hydrogen sulfide concentrations. ( 30470507 )
2018
33
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia. ( 30504431 )
2018
34
Reconstitution of the Ataxia-Telangiectasia Cellular Phenotype With Lentiviral Vectors. ( 30515174 )
2018
35
Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. ( 30523550 )
2018
36
Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia. ( 30549301 )
2018
37
PEX10-related autosomal recessive cerebellar ataxia with hearing loss. ( 30022445 )
2018
38
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. ( 30275942 )
2018
39
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. ( 30401461 )
2018
40
Opsoclonus-myoclonus-ataxia syndrome associated with chikungunya and dengue virus co-infection. ( 30076990 )
2018
41
Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins. ( 29434023 )
2018
42
Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene. ( 30398676 )
2018
43
Instrumented finger-to-nose test classification in children with ataxia or developmental coordination disorder and controls. ( 30317045 )
2018
44
Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options. ( 30363394 )
2018
45
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. ( 30459466 )
2018
46
Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis? ( 30008965 )
2018
47
Myoclonus-dystonia and cerebellar ataxia in association with anti-glutamic acid decarboxylase autoimmunity. ( 30057216 )
2018
48
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. ( 29603387 )
2018
49
Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia. ( 30191089 )
2018
50
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I. ( 30140249 )
2018

Variations for Ataxia and Polyneuropathy, Adult-Onset

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

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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