ANS
MCID: ATX010
MIFTS: 43

Ataxia Neuropathy Spectrum (ANS) malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Ataxia Neuropathy Spectrum

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Genetics Home Reference:21 Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).

MalaCards based summary: Ataxia Neuropathy Spectrum, also known as mitochondrial recessive ataxia syndrome, is related to spinocerebellar ataxia and chronic progressive external ophthalmoplegia, and has symptoms including An important gene associated with Ataxia Neuropathy Spectrum is POLG (polymerase (DNA directed), gamma). Affiliated tissues include brain and skeletal muscle, and related mouse phenotype embryogenesis.

Description from OMIM:46 607459

Aliases & Classifications for Ataxia Neuropathy Spectrum

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Sources:
21Genetics Home Reference, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
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Ataxia Neuropathy Spectrum, Aliases & Descriptions:

Name: Ataxia Neuropathy Spectrum 21 62
Mitochondrial Recessive Ataxia Syndrome 21 46 62
Miras 21 48 62
Sando 21 48 62
Spinocerebellar Ataxia with Epilepsy 48 62
Scae 48 62
 
Sensory Ataxic Neuropathy - Dysarthria - Ophthalmoparesis 48
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 21
Mitochondrial Spinocerebellar Ataxia with Epilepsy 48
Recessive Mitochondrial Ataxia Syndrome 48
Mscae 48
Ans 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
spinocerebellar ataxia with epilepsy:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood
sando:
Inheritance: Autosomal recessive; Age of onset: Adulthood


External Ids:

OMIM46 607459
ICD10 via Orphanet26 G71.3, G11.8
UMLS via Orphanet63 C1843851
MESH via Orphanet35 C537583

Related Diseases for Ataxia Neuropathy Spectrum

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Graphical network of the top 20 diseases related to Ataxia Neuropathy Spectrum:



Diseases related to ataxia neuropathy spectrum

Symptoms for Ataxia Neuropathy Spectrum

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Symptoms by clinical synopsis from OMIM:

607459

Clinical features from OMIM:

607459

HPO human phenotypes related to Ataxia Neuropathy Spectrum:

(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 Ataxia Neuropathy Spectrum

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Drug clinical trials:

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Search NIH Clinical Center for Ataxia Neuropathy Spectrum

Genetic Tests for Ataxia Neuropathy Spectrum

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Anatomical Context for Ataxia Neuropathy Spectrum

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MalaCards organs/tissues related to Ataxia Neuropathy Spectrum:

32
Brain, Skeletal muscle

Animal Models for Ataxia Neuropathy Spectrum or affiliated genes

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MGI Mouse Phenotypes related to Ataxia Neuropathy Spectrum:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1POLG, C10orf2

Publications for Ataxia Neuropathy Spectrum

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Articles related to Ataxia Neuropathy Spectrum:

idTitleAuthorsYear
1
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. (22805437)
2012

Variations for Ataxia Neuropathy Spectrum

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UniProtKB/Swiss-Prot genetic disease variations for Ataxia Neuropathy Spectrum:

64 (show all 12)
id Symbol AA change Variation ID SNP ID
1C10orf2p.Lys319GluVAR_023649
2C10orf2p.Lys319GluVAR_023649
3C10orf2p.Lys319GluVAR_023649
4POLGp.Ala467ThrVAR_012155rs113994095
5POLGp.Gln497HisVAR_023669
6POLGp.Arg627TrpVAR_023672
7POLGp.Trp748SerVAR_023673
8POLGp.His932TyrVAR_023679
9POLGp.Gly1051ArgVAR_023684
10POLGp.Gly517ValVAR_058879rs61752783
11POLGp.Arg627GlnVAR_058883
12POLGp.Arg807CysVAR_058887

Clinvar genetic disease variations for Ataxia Neuropathy Spectrum:

6
id Gene Name 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 Ataxia Neuropathy Spectrum

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Expression patterns in normal tissues for genes affiliated with Ataxia Neuropathy Spectrum

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Pathways for genes affiliated with Ataxia Neuropathy Spectrum

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Compounds for genes affiliated with Ataxia Neuropathy Spectrum

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GO Terms for genes affiliated with Ataxia Neuropathy Spectrum

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Cellular components related to Ataxia Neuropathy Spectrum according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.1POLG, C10orf2

Biological processes related to Ataxia Neuropathy Spectrum according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.1POLG, C10orf2
2mitochondrial DNA replicationGO:0062648.8POLG, C10orf2

Molecular functions related to Ataxia Neuropathy Spectrum according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.1POLG, C10orf2

Products for genes affiliated with Ataxia Neuropathy Spectrum

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  • Antibodies
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Sources for Ataxia Neuropathy Spectrum

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet