MCID: ATX038
MIFTS: 28

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 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 autosomal recessive cerebellar ataxia and kearns-sayre 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.

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 1181)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 31.9 ATM SETX
2 kearns-sayre syndrome 31.8 MT-ATP6 MT-ATP8 MT-ND4
3 cerebellar disease 30.8 ATM SETX
4 mitochondrial metabolism disease 30.1 MT-ATP6 MT-ND3
5 leigh syndrome 30.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
6 mitochondrial disorders 29.9 MT-ATP6 MT-ND3 MT-ND4
7 lactic acidosis 29.5 MT-ATP6 MT-CO3 MT-ND4
8 striatonigral degeneration, infantile 29.5 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
9 myopathy 29.2 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
10 aceruloplasminemia 29.0 ATM MT-ATP6 NPC1 PTRH2 SETX SLC2A1
11 mitochondrial myopathy 29.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
12 alacrima, achalasia, and mental retardation syndrome 28.9 EBF3 SLC2A1
13 dystonia 28.9 MT-ND3 MT-ND4 NPC1 SLC2A1
14 mitochondrial encephalomyopathy 28.9 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
15 retinitis pigmentosa 28.7 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
16 leber hereditary optic neuropathy 28.4 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
17 friedreich ataxia 1 12.5
18 ataxia-telangiectasia 12.4
19 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.4
20 spastic ataxia, charlevoix-saguenay type 12.4
21 episodic ataxia, type 2 12.4
22 spinocerebellar ataxia 1 12.4
23 spinocerebellar ataxia 2 12.3
24 spinocerebellar ataxia 7 12.3
25 spinocerebellar ataxia 6 12.3
26 spinocerebellar ataxia 34 12.3
27 spinocerebellar ataxia, autosomal recessive 8 12.3
28 episodic ataxia, type 1 12.3
29 spinocerebellar ataxia 36 12.3
30 autosomal dominant cerebellar ataxia 12.3
31 spinocerebellar ataxia 31 12.3
32 spinocerebellar ataxia 13 12.3
33 spinocerebellar ataxia 20 12.3
34 anemia, sideroblastic, and spinocerebellar ataxia 12.3
35 spinocerebellar ataxia 10 12.3
36 spinocerebellar ataxia 17 12.3
37 spinocerebellar ataxia 27 12.2
38 spinocerebellar ataxia 21 12.2
39 ataxia with vitamin e deficiency 12.2
40 spinocerebellar ataxia 5 12.2
41 spinocerebellar ataxia 23 12.2
42 spinocerebellar ataxia 14 12.2
43 spinocerebellar ataxia 12 12.2
44 spinocerebellar ataxia, autosomal recessive 7 12.2
45 spinocerebellar ataxia 8 12.2
46 spinocerebellar ataxia 11 12.2
47 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.2
48 hereditary ataxia 12.2
49 spinocerebellar ataxia 26 12.2
50 spinocerebellar ataxia 28 12.2

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

Publications for Ataxia and Polyneuropathy, Adult-Onset

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 26)
# 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 SETX NM_015046.6(SETX): c.5222dup (p.Asp1742Argfs) duplication Pathogenic rs730882209 GRCh38 Chromosome 9, 132326376: 132326376
4 SETX NM_015046.6(SETX): c.5222dup (p.Asp1742Argfs) duplication Pathogenic rs730882209 GRCh37 Chromosome 9, 135201763: 135201763
5 PTRH2 NM_016077.4(PTRH2): c.254A> C (p.Gln85Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882234 GRCh38 Chromosome 17, 59697725: 59697725
6 PTRH2 NM_016077.4(PTRH2): c.254A> C (p.Gln85Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882234 GRCh37 Chromosome 17, 57775086: 57775086
7 GRIN2B NM_000834.4(GRIN2B): c.2084T> C (p.Ile695Thr) single nucleotide variant Likely pathogenic rs876661219 GRCh38 Chromosome 12, 13571891: 13571891
8 GRIN2B NM_000834.4(GRIN2B): c.2084T> C (p.Ile695Thr) single nucleotide variant Likely pathogenic rs876661219 GRCh37 Chromosome 12, 13724825: 13724825
9 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
10 EBF3 NM_001005463.2(EBF3): c.488G> T (p.Arg163Leu) single nucleotide variant Pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
11 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh37 Chromosome 10, 131755588: 131755588
12 EBF3 NM_001005463.2(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 GRCh38 Chromosome 10, 129957324: 129957324
13 MT-ND4 NC_012920.1: m.11896C> G single nucleotide variant Uncertain significance rs1057516065 GRCh37 Chromosome MT, 11896: 11896
14 MT-ND4 NC_012920.1: m.11896C> G single nucleotide variant Uncertain significance rs1057516065 GRCh38 Chromosome MT, 11896: 11896
15 MT-CYB NC_012920.1: m.15127C> T single nucleotide variant Uncertain significance rs1057516074 GRCh37 Chromosome MT, 15127: 15127
16 MT-CYB NC_012920.1: m.15127C> T single nucleotide variant Uncertain significance rs1057516074 GRCh38 Chromosome MT, 15127: 15127
17 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh38 Chromosome 1, 42930672: 42930672
18 SLC2A1 NM_006516.2(SLC2A1): c.470dupG (p.Thr158Hisfs) duplication Pathogenic rs1057518821 GRCh37 Chromosome 1, 43396343: 43396343
19 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
20 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh38 Chromosome 11, 108244812: 108244812
21 NPC1 NM_000271.4(NPC1): c.1421C> T (p.Pro474Leu) single nucleotide variant Pathogenic rs372445155 GRCh38 Chromosome 18, 23554890: 23554890
22 NPC1 NM_000271.4(NPC1): c.1421C> T (p.Pro474Leu) single nucleotide variant Pathogenic rs372445155 GRCh37 Chromosome 18, 21134854: 21134854
23 DNMT1 NM_001130823.2(DNMT1): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs1057518769 GRCh38 Chromosome 19, 10180404: 10180404
24 DNMT1 NM_001130823.2(DNMT1): c.391C> T (p.Pro131Ser) single nucleotide variant Uncertain significance rs1057518769 GRCh37 Chromosome 19, 10291080: 10291080
25 GRIN2B NM_000834.4(GRIN2B): c.2116A> G (p.Met706Val) single nucleotide variant Likely pathogenic rs1057518988 GRCh38 Chromosome 12, 13571859: 13571859
26 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 mitochondrial inner membrane GO:0005743 9.55 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4
2 respiratory chain GO:0070469 9.5 MT-ND3 MT-ND4 MT-ND4L
3 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND3 MT-ND4 MT-ND4L
4 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP6 MT-ATP8
5 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
6 NADH dehydrogenase complex GO:0030964 8.96 MT-ND3 MT-ND4L
7 mitochondrial membrane GO:0031966 8.92 MT-ATP8 MT-ND3 MT-ND4 MT-ND4L
8 integral component of membrane GO:0016021 10.09 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

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

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.4 MT-CO3 MT-ND4
2 ATP biosynthetic process GO:0006754 9.37 MT-ATP6 MT-ATP8
3 cristae formation GO:0042407 9.32 MT-ATP6 MT-ATP8
4 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
6 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4 MT-ND4L
7 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 proton transmembrane transporter activity GO:0015078 9.16 MT-ATP6 MT-ATP8
2 transmembrane transporter activity GO:0022857 9.13 MT-ATP6 MT-ATP8 SLC2A1
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND4 MT-ND4L

Sources for Ataxia and Polyneuropathy, Adult-Onset

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69 SNOMED-CT via HPO
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