ANS
MCID: ATX010
MIFTS: 44

Ataxia Neuropathy Spectrum (ANS) malady

Neuronal diseases, Metabolic diseases categories

Summaries for Ataxia Neuropathy Spectrum

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Sources:
21Genetics Home Reference, 46OMIM, 32MalaCards
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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: Ataxia Neuropathy Spectrum, also known as mitochondrial recessive ataxia syndrome, is related to myopathy and polyneuropathy. An important gene associated with Ataxia Neuropathy Spectrum is POLG (polymerase (DNA directed), gamma). Affiliated tissues include brain and skeletal muscle.

Description from OMIM:46 607459

Aliases & Classifications for Ataxia Neuropathy Spectrum

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Sources:
21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


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


Aliases & Descriptions:

ataxia neuropathy spectrum 21
mitochondrial recessive ataxia syndrome 21 46
spinocerebellar ataxia with epilepsy 48 60
miras 21 48
sando 21 48
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 60
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
scae 48
ans 21


External Ids:

OMIM46 607459
MESH via Orphanet35 C537583
UMLS via Orphanet61 C1843851
ICD10 via Orphanet26 G71.3, G11.8

Related Diseases for Ataxia Neuropathy Spectrum

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ataxia Neuropathy Spectrum:



Diseases related to ataxia neuropathy spectrum

Clinical Features for Ataxia Neuropathy Spectrum

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Sources:
46OMIM
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Clinical features from OMIM:

607459

Clinical synopsis from OMIM:

607459

Drugs & Therapeutics for Ataxia Neuropathy Spectrum

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Ataxia Neuropathy Spectrum

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Genetic Tests for Ataxia Neuropathy Spectrum

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Anatomical Context for Ataxia Neuropathy Spectrum

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Sources:
32MalaCards
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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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Publications for Ataxia Neuropathy Spectrum

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Genetic Variations for Ataxia Neuropathy Spectrum

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Ataxia Neuropathy Spectrum:

62 (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

Expression for genes affiliated with Ataxia Neuropathy Spectrum

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
16Gene Ontology
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet