MCID: MTC057
MIFTS: 39

Mitochondrial Recessive Ataxia Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Mitochondrial Recessive Ataxia Syndrome

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 60UMLS, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Mitochondrial Recessive Ataxia Syndrome, Aliases & Descriptions:

Name: Mitochondrial Recessive Ataxia Syndrome 45 10
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 45 41 60
Sensory Ataxic Neuropathy - Dysarthria - Ophthalmoparesis 41 47 22
Sando 41 47
 
Recessive Mitochondrial Ataxia Syndrome 47
Ataxia Neuropathy Spectrum 60
Miras 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
sensory ataxic neuropathy - dysarthria - ophthalmoparesis:
Inheritance: Autosomal recessive; Age of onset: Adult


External Ids:

OMIM45 607459
Orphanet47 70595, 94125
ICD10 via Orphanet26 G71.3, G11.8
UMLS via Orphanet61 C1843851
MESH via Orphanet34 C537583

Summaries for Mitochondrial Recessive Ataxia Syndrome

About this section


OMIM:45 SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy,... (607459) more...

MalaCards based summary: Mitochondrial Recessive Ataxia Syndrome, also known as sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, is related to neuropathy and spinocerebellar ataxia, and has symptoms including autosomal recessive inheritance, sensorineural hearing impairment and ptosis. An important gene associated with Mitochondrial Recessive Ataxia Syndrome is POLG (polymerase (DNA directed), gamma). Affiliated tissues include skeletal muscle and spinal cord, and related mouse phenotype embryogenesis.

Related Diseases for Mitochondrial Recessive Ataxia Syndrome

About this section

Diseases related to Mitochondrial Recessive Ataxia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy30.6POLG, C10orf2
2spinocerebellar ataxia30.3C10orf2, POLG
3ataxia neuropathy spectrum10.3
4ataxia10.3
5ophthalmoplegia10.3
6neuronitis10.2
7dysphagia10.0
8rheumatoid arthritis10.0
9colorectal cancer10.0
10lung cancer10.0
11arthritis10.0
12pseudohermaphroditism10.0
13mitochondrial dna depletion syndrome 4a9.9POLG, C10orf2
14chronic progressive external ophthalmoplegia9.9POLG, C10orf2
15mitochondrial disorders9.7POLG, C10orf2

Graphical network of diseases related to Mitochondrial Recessive Ataxia Syndrome:



Diseases related to mitochondrial recessive ataxia syndrome

Symptoms for Mitochondrial Recessive Ataxia Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

607459

Clinical features from OMIM:

607459

HPO human phenotypes related to Mitochondrial Recessive Ataxia Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 sensorineural hearing impairment HP:0000407
3 ptosis HP:0000508
4 cataract HP:0000518
5 progressive external ophthalmoplegia HP:0000590
6 nystagmus HP:0000639
7 depression HP:0000716
8 seizures HP:0001250
9 dysarthria HP:0001260
10 hyporeflexia HP:0001265
11 areflexia HP:0001284
12 myoclonus HP:0001336
13 dilated cardiomyopathy HP:0001644
14 vestibular dysfunction HP:0001751
15 migraine HP:0002076
16 increased serum lactate HP:0002151
17 positive romberg sign HP:0002403
18 gastroparesis HP:0002578
19 ragged-red muscle fibers HP:0003200
20 sensory axonal neuropathy HP:0003390
21 sensory ataxic neuropathy HP:0003434
22 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
23 increased variability in muscle fiber diameter HP:0003557
24 adult onset HP:0003581
25 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
26 multiple mitochondrial dna deletions HP:0003689
27 proximal muscle weakness HP:0003701
28 muscle fiber necrosis HP:0003713
29 phenotypic variability HP:0003812
30 intestinal pseudo-obstruction HP:0004389
31 impaired distal proprioception HP:0006858
32 impaired distal vibration sensation HP:0006886
33 progressive gait ataxia HP:0007240
34 atrophy/degeneration involving the spinal cord HP:0007344
35 mildly elevated creatine phosphokinase HP:0008180
36 cognitive impairment HP:0100543

Drugs & Therapeutics for Mitochondrial Recessive Ataxia Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Recessive Ataxia Syndrome

Search NIH Clinical Center for Mitochondrial Recessive Ataxia Syndrome

Genetic Tests for Mitochondrial Recessive Ataxia Syndrome

About this section

Genetic tests related to Mitochondrial Recessive Ataxia Syndrome:

id Genetic test Affiliating Genes
1 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis22

Anatomical Context for Mitochondrial Recessive Ataxia Syndrome

About this section

MalaCards organs/tissues related to Mitochondrial Recessive Ataxia Syndrome:

31
Skeletal muscle, Spinal cord

Animal Models for Mitochondrial Recessive Ataxia Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Mitochondrial Recessive Ataxia Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1POLG, C10orf2

Publications for Mitochondrial Recessive Ataxia Syndrome

About this section

Articles related to Mitochondrial Recessive Ataxia Syndrome:

idTitleAuthorsYear
1
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia. (22166854)
2012
2
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. (18775955)
2008

Variations for Mitochondrial Recessive Ataxia Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Recessive Ataxia Syndrome:

62
id Symbol AA change Variation ID SNP ID
1C10orf2p.Lys319GluVAR_023649
2POLGp.Ala467ThrVAR_012155rs113994095
3POLGp.Gln497HisVAR_023669
4POLGp.Arg627TrpVAR_023672
5POLGp.Trp748SerVAR_023673
6POLGp.His932TyrVAR_023679
7POLGp.Gly1051ArgVAR_023684
8POLGp.Gly517ValVAR_058879rs61752783
9POLGp.Arg627GlnVAR_058883
10POLGp.Arg807CysVAR_058887

Clinvar genetic disease variations for Mitochondrial Recessive Ataxia Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.1399G> A (p.Ala467Thr)single nucleotide variantPathogenicrs113994095GRCh37Chr 15, 89870432: 89870432
2POLGNM_002693.2(POLG): c.1879C> T (p.Arg627Trp)single nucleotide variantPathogenicrs121918046GRCh37Chr 15, 89868751: 89868751
3POLGNM_002693.2(POLG): c.2794C> T (p.His932Tyr)single nucleotide variantPathogenicrs121918048GRCh37Chr 15, 89864184: 89864184
4POLGNM_002693.2(POLG): c.3151G> C (p.Gly1051Arg)single nucleotide variantPathogenicrs121918049GRCh37Chr 15, 89862284: 89862284
5POLGNM_002693.2(POLG): c.2243G> C (p.Trp748Ser)single nucleotide variantPathogenicrs113994097GRCh37Chr 15, 89866657: 89866657
6C10orf2NM_021830.4(C10orf2): c.955A> G (p.Lys319Glu)single nucleotide variantPathogenicrs80356543GRCh37Chr 10, 102748922: 102748922

Expression for genes affiliated with Mitochondrial Recessive Ataxia Syndrome

About this section
Search GEO for disease gene expression data for Mitochondrial Recessive Ataxia Syndrome.

Pathways for genes affiliated with Mitochondrial Recessive Ataxia Syndrome

About this section

Compounds for genes affiliated with Mitochondrial Recessive Ataxia Syndrome

About this section

GO Terms for genes affiliated with Mitochondrial Recessive Ataxia Syndrome

About this section

Cellular components related to Mitochondrial Recessive Ataxia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.1POLG, C10orf2

Biological processes related to Mitochondrial Recessive Ataxia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.1POLG, C10orf2
2mitochondrial DNA replicationGO:00062648.8POLG, C10orf2

Molecular functions related to Mitochondrial Recessive Ataxia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.1POLG, C10orf2

Products for genes affiliated with Mitochondrial Recessive Ataxia Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mitochondrial Recessive Ataxia Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet