ANS
MCID: ATX010
MIFTS: 35

Ataxia Neuropathy Spectrum (ANS)

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ataxia Neuropathy Spectrum

MalaCards integrated aliases for Ataxia Neuropathy Spectrum:

Name: Ataxia Neuropathy Spectrum 25 58 71
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 71
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 25
Mitochondrial Recessive Ataxia Syndrome 25
Ataxia Neuropathy Spectrum Disorders 6
Sando 25
Miras 25
Ans 25

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

UMLS via Orphanet 72 C3683791
Orphanet 58 ORPHA254818
UMLS 71 C1843851 C3683791

Summaries for Ataxia Neuropathy Spectrum

Genetics Home Reference : 25 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). POLG As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or pain in the arms and legs, and motor neuropathy refers to disturbance in the nerves used for muscle movement. Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.

MalaCards based summary : Ataxia Neuropathy Spectrum, also known as sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, is related to mitochondrial dna depletion syndrome 7 and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, and has symptoms including ophthalmoplegia An important gene associated with Ataxia Neuropathy Spectrum is TWNK (Twinkle MtDNA Helicase). The drug Cysteamine has been mentioned in the context of this disorder. Affiliated tissues include brain, liver and eye, and related phenotype is Negative genetic interaction between MUS81-/- and MUS81+/+.

Related Diseases for Ataxia Neuropathy Spectrum

Diseases related to Ataxia Neuropathy Spectrum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 13219)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 7 31.9 TWNK POLG
2 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.7 TWNK POLG
3 chronic progressive external ophthalmoplegia 31.6 TWNK POLG
4 optic nerve disease 30.7 TWNK POLG
5 mitochondrial dna depletion syndrome 6 30.5 TWNK POLG
6 pearson marrow-pancreas syndrome 30.4 TWNK POLG
7 3-methylglutaconic aciduria, type iii 30.4 TWNK POLG
8 mitochondrial dna depletion syndrome 4b 30.4 TWNK POLG
9 leber optic atrophy 30.4 TWNK POLG
10 ptosis 30.4 TWNK POLG
11 mitochondrial dna depletion syndrome 3 30.3 TWNK POLG
12 mitochondrial myopathy 30.2 TWNK POLG
13 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.2 TWNK POLG
14 myoclonic epilepsy associated with ragged-red fibers 30.1 TWNK POLG
15 ocular motility disease 30.1 TWNK POLG
16 leigh syndrome 30.0 TWNK POLG
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 29.8 TWNK POLG
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 29.8 TWNK POLG
19 mitochondrial dna depletion syndrome 4a 29.7 TWNK POLG
20 polyneuropathy 29.7 TWNK POLG
21 neuropathy 29.6 TWNK POLG
22 mitochondrial disorders 29.6 TWNK POLG
23 autosomal dominant cerebellar ataxia 29.6 TWNK POLG
24 cranial nerve disease 29.6 TWNK POLG
25 peripheral nervous system disease 29.4 TWNK POLG
26 axonal neuropathy 29.3 TWNK POLG
27 mitochondrial metabolism disease 29.3 TWNK POLG
28 kearns-sayre syndrome 29.1 TWNK POLG
29 diabetic polyneuropathy 29.1 TWNK POLG
30 mitochondrial encephalomyopathy 29.0 TWNK POLG
31 mitochondrial dna depletion syndrome 28.7 TWNK POLG
32 autosomal dominant progressive external ophthalmoplegia 28.5 TWNK POLG
33 neuropathy, ataxia, and retinitis pigmentosa 28.5 TWNK POLG
34 polg-related disorders 28.5 TWNK POLG
35 hair-an syndrome 12.4
36 rare hemorrhagic disorder due to an acquired platelet anomaly 12.3
37 hemophagocytic syndrome associated with an infection 12.2
38 rare hemorrhagic disorder due to an acquired coagulation factor defect 12.2
39 sickle cell disease associated with an other hemoglobin anomaly 12.2
40 silver-russell syndrome due to an imprinting defect of 11p15 12.2
41 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 12.2
42 sucking/swallowing disorder associated with an identified syndrome 12.1
43 rare thrombotic disorder due to an acquired platelet anomaly 12.1
44 rare thrombotic disorder due to an acquired coagulation factors defect 12.1
45 systemic inflammatory disease associated with an acquired peripheral neuropathy 12.1
46 hematological disease associated with an acquired peripheral neuropathy 12.1
47 solid tumor associated with an acquired peripheral neuropathy 12.1
48 rare female infertility due to an implantation defect 12.1
49 female infertility due to an implantation defect of genetic origin 12.1
50 rare female infertility due to an anomaly of ovarian function of genetic origin 12.1

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



Diseases related to Ataxia Neuropathy Spectrum

Symptoms & Phenotypes for Ataxia Neuropathy Spectrum

UMLS symptoms related to Ataxia Neuropathy Spectrum:


ophthalmoplegia

GenomeRNAi Phenotypes related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.62 POLG TWNK

Drugs & Therapeutics for Ataxia Neuropathy Spectrum

Drugs for Ataxia Neuropathy Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 2 60-23-1 6058

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
2 The Mindfulness Intervention and Repeated Acute Stress (MIRAS) Study Unknown status NCT02894229
3 Acute Consumption of Fuji Apple Juice Does Not Affect Oxidative Stress Biomarkers in Hemodialysis Patients: A Pilot Intervention Study Completed NCT02974491
4 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Not yet recruiting NCT03967834

Search NIH Clinical Center for Ataxia Neuropathy Spectrum

Genetic Tests for Ataxia Neuropathy Spectrum

Anatomical Context for Ataxia Neuropathy Spectrum

MalaCards organs/tissues related to Ataxia Neuropathy Spectrum:

40
Brain, Liver, Eye

Publications for Ataxia Neuropathy Spectrum

Articles related to Ataxia Neuropathy Spectrum:

(show all 41)
# Title Authors PMID Year
1
POLG-Related Disorders 6 61
20301791 2010
2
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 6 61
12565911 2003
3
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 6
26942291 2016
4
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. 6
26942292 2016
5
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6
21276947 2011
6
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 6
19251978 2009
7
Do carriers of POLG mutation W748S have disease manifestations? 6
17894835 2007
8
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 6
17426723 2007
9
POLG mutations in Alpers syndrome. 6
16177225 2005
10
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. 6
16130100 2005
11
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 6
16080118 2005
12
POLG mutations and Alpers syndrome. 6
15929042 2005
13
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 6
15824347 2005
14
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 6
15477547 2004
15
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 6
15122711 2004
16
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 6
14745080 2004
17
Patient homozygous for a recessive POLG mutation presents with features of MERRF. 6
14694057 2003
18
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. 6
11571332 2001
19
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 6
11431686 2001
20
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. 6
632821 1978
21
Rod bipolar cell dysfunction in POLG retinopathy. 61
32567010 2020
22
POLG-related disorders and their neurological manifestations. 61
30451971 2019
23
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. 61
28508084 2017
24
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. 61
28480171 2017
25
Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report. 61
27552387 2016
26
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 61
26755490 2016
27
Clinical and molecular features of POLG-related mitochondrial disease. 61
23545419 2013
28
[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions]. 61
23524600 2013
29
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? 61
23250882 2012
30
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. 61
22805437 2012
31
Epilepsy in mitochondrial disorders. 61
22459315 2012
32
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 61
20513108 2010
33
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 61
19813183 2010
34
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 61
18546365 2008
35
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. 61
17470496 2007
36
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 61
17088268 2006
37
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 61
16639411 2006
38
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 61
15668446 2005
39
SANDO: another presentation of mitochondrial disease. 61
15126171 2004
40
[A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy]. 61
14727565 2003
41
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. 61
9222196 1997

Variations for Ataxia Neuropathy Spectrum

ClinVar genetic disease variations for Ataxia Neuropathy Spectrum:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWNK NM_021830.5(TWNK):c.-105T>CSNV Uncertain significance 298493 rs886046629 10:102747863-102747863 10:100988106-100988106
2 TWNK NM_021830.5(TWNK):c.274G>A (p.Gly92Ser)SNV Uncertain significance 298496 rs886046630 10:102748241-102748241 10:100988484-100988484
3 TWNK NM_021830.5(TWNK):c.*803A>GSNV Uncertain significance 298521 rs886046640 10:102754070-102754070 10:100994313-100994313
4 TWNK NM_021830.5(TWNK):c.*472_*473GA[2]short repeat Likely benign 298512 rs370783985 10:102753738-102753739 10:100993981-100993982
5 TWNK NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)SNV Likely benign 279716 rs369223258 10:102753262-102753262 10:100993505-100993505
6 TWNK NM_021830.5(TWNK):c.-306_-305GT[1]short repeat Likely benign 298490 rs146265037 10:102747661-102747662 10:100987904-100987905

Expression for Ataxia Neuropathy Spectrum

Search GEO for disease gene expression data for Ataxia Neuropathy Spectrum.

Pathways for Ataxia Neuropathy Spectrum

GO Terms for Ataxia Neuropathy Spectrum

Cellular components related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 8.62 TWNK POLG

Biological processes related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 TWNK POLG
2 cellular response to glucose stimulus GO:0071333 8.96 TWNK POLG
3 mitochondrial DNA replication GO:0006264 8.62 TWNK POLG

Molecular functions related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 TWNK POLG

Sources for Ataxia Neuropathy Spectrum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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