ANS
MCID: ATX010
MIFTS: 39

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 59 72
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 72
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: 59  
Inborn errors of metabolism


External Ids:

UMLS via Orphanet 73 C3683791
Orphanet 59 ORPHA254818
UMLS 72 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 chronic progressive external ophthalmoplegia and mitochondrial dna depletion syndrome 7, and has symptoms including ophthalmoplegia An important gene associated with Ataxia Neuropathy Spectrum is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drug Cysteamine has been mentioned in the context of this disorder. Affiliated tissues include brain, liver and eye.

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 13091)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 31.9 TWNK POLG
2 mitochondrial dna depletion syndrome 7 31.8 TWNK MRPL43
3 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.9 TWNK POLG MRPL43
4 perrault syndrome 30.7 TWNK MRPL43
5 3-methylglutaconic aciduria, type v 30.4 TWNK POLG
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.4 TWNK POLG
7 myoclonic epilepsy associated with ragged-red fibers 30.4 TWNK POLG
8 ocular motility disease 30.4 TWNK POLG
9 mitochondrial dna depletion syndrome 4a 30.0 TWNK POLG
10 neuropathy 29.9 TWNK POLG
11 mitochondrial metabolism disease 29.4 TWNK POLG
12 axonal neuropathy 29.4 TWNK POLG
13 diabetic polyneuropathy 29.4 TWNK POLG
14 kearns-sayre syndrome 29.2 TWNK POLG
15 mitochondrial dna depletion syndrome 28.9 TWNK POLG
16 autosomal recessive cerebellar ataxia 28.8 TWNK MRPL43
17 muscular disease 28.5 TWNK POLG
18 autosomal dominant progressive external ophthalmoplegia 27.8 TWNK POLG MRPL43
19 hair-an syndrome 12.3
20 rare hemorrhagic disorder due to an acquired platelet anomaly 12.2
21 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin 12.2
22 hemophagocytic syndrome associated with an infection 12.2
23 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
24 rare hemorrhagic disorder due to an acquired coagulation factor defect 12.1
25 sickle cell disease associated with an other hemoglobin anomaly 12.1
26 obsolete: common variable immunodeficiency due to an intrinsic b cell defect 12.1
27 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 12.1
28 obsolete: common variable immunodeficiency due to an intrinsic t cell defect 12.1
29 sucking/swallowing disorder associated with an identified syndrome 12.0
30 particular clinical situation or non rare disorder with an orphan designation 12.0
31 rare thrombotic disorder due to an acquired platelet anomaly 12.0
32 rare thrombotic disorder due to an acquired coagulation factors defect 12.0
33 systemic inflammatory disease associated with an acquired peripheral neuropathy 12.0
34 hematological disease associated with an acquired peripheral neuropathy 12.0
35 solid tumor associated with an acquired peripheral neuropathy 12.0
36 silver-russell syndrome due to an imprinting defect of 11p15 12.0
37 obsolete: polydactyly of an index finger, unilateral 12.0
38 obsolete: polydactyly of an index finger, bilateral 12.0
39 rare female infertility due to an implantation defect 12.0
40 female infertility due to an implantation defect of genetic origin 12.0
41 rare female infertility due to an anomaly of ovarian function of genetic origin 12.0
42 rare female infertility due to an anomaly of ovarian function 12.0
43 rare female infertility due to an adrenal disorder 12.0
44 obsolete: channelopathy due to an inwardly rectifying potassium channel defect 12.0
45 obsolete: channelopathy due to an epithelial sodium channel defect 12.0
46 obsolete: pituitary deficiency secondary to an anevrysm 12.0
47 obsolete: spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 12.0
48 obsolete: autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect 12.0
49 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection 12.0
50 obsolete: male infertility with normal virilization due to an acquired testicular defect 12.0

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

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 Acute Consumption of Fuji Apple Juice Does Not Affect Oxidative Stress Biomarkers in Hemodialysis Patients: A Pilot Intervention Study Completed NCT02974491
3 The Mindfulness Intervention and Repeated Acute Stress (MIRAS) Study Enrolling by invitation NCT02894229
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:

41
Brain, Liver, Eye

Publications for Ataxia Neuropathy Spectrum

Articles related to Ataxia Neuropathy Spectrum:

(show all 40)
# Title Authors PMID Year
1
POLG-Related Disorders 38 71
20301791 2010
2
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 38 71
12565911 2003
3
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 71
26942291 2016
4
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. 71
26942292 2016
5
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 71
21276947 2011
6
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 71
19251978 2009
7
Do carriers of POLG mutation W748S have disease manifestations? 71
17894835 2007
8
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 71
17426723 2007
9
POLG mutations in Alpers syndrome. 71
16177225 2005
10
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. 71
16130100 2005
11
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 71
16080118 2005
12
POLG mutations and Alpers syndrome. 71
15929042 2005
13
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 71
15824347 2005
14
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 71
15477547 2004
15
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 71
15122711 2004
16
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 71
14745080 2004
17
Patient homozygous for a recessive POLG mutation presents with features of MERRF. 71
14694057 2003
18
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. 71
11571332 2001
19
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 71
11431686 2001
20
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. 71
632821 1978
21
POLG-related disorders and their neurological manifestations. 38
30451971 2019
22
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. 38
28508084 2017
23
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. 38
28480171 2017
24
Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report. 38
27552387 2016
25
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 38
26755490 2016
26
Clinical and molecular features of POLG-related mitochondrial disease. 38
23545419 2013
27
[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions]. 38
23524600 2013
28
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? 38
23250882 2012
29
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. 38
22805437 2012
30
Epilepsy in mitochondrial disorders. 38
22459315 2012
31
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 38
20513108 2010
32
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 38
19813183 2010
33
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 38
18546365 2008
34
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. 38
17470496 2007
35
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 38
17088268 2006
36
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 38
16639411 2006
37
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 38
15668446 2005
38
SANDO: another presentation of mitochondrial disease. 38
15126171 2004
39
[A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy]. 38
14727565 2003
40
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. 38
9222196 1997

Variations for Ataxia Neuropathy Spectrum

ClinVar genetic disease variations for Ataxia Neuropathy Spectrum:

6 (show all 49)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TWNK NM_021830.5(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 10:102750730-102750730 10:100990973-100990973
2 TWNK NM_021830.5(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 10:102753187-102753187 10:100993430-100993430
3 TWNK NM_021830.5(TWNK): c.-105T> C single nucleotide variant Uncertain significance rs886046629 10:102747863-102747863 10:100988106-100988106
4 TWNK NM_021830.5(TWNK): c.274G> A (p.Gly92Ser) single nucleotide variant Uncertain significance rs886046630 10:102748241-102748241 10:100988484-100988484
5 TWNK NM_021830.5(TWNK): c.276C> T (p.Gly92=) single nucleotide variant Uncertain significance rs886046631 10:102748243-102748243 10:100988486-100988486
6 TWNK NM_021830.5(TWNK): c.1042G> A (p.Gly348Arg) single nucleotide variant Uncertain significance rs62626271 10:102749009-102749009 10:100989252-100989252
7 TWNK NM_021830.5(TWNK): c.384C> T (p.Ser128=) single nucleotide variant Uncertain significance rs148234280 10:102748351-102748351 10:100988594-100988594
8 TWNK NM_021830.5(TWNK): c.*234T> G single nucleotide variant Uncertain significance rs886046633 10:102753501-102753501 10:100993744-100993744
9 TWNK NM_021830.5(TWNK): c.*555G> A single nucleotide variant Uncertain significance rs886046635 10:102753822-102753822 10:100994065-100994065
10 TWNK NM_021830.5(TWNK): c.-644A> T single nucleotide variant Uncertain significance rs886046623 10:102747324-102747324 10:100987567-100987567
11 TWNK NM_021830.5(TWNK): c.*438G> C single nucleotide variant Uncertain significance rs886046634 10:102753705-102753705 10:100993948-100993948
12 TWNK NM_021830.5(TWNK): c.922T> C (p.Leu308=) single nucleotide variant Uncertain significance rs754389465 10:102748889-102748889 10:100989132-100989132
13 TWNK NM_021830.5(TWNK): c.*709C> G single nucleotide variant Uncertain significance rs41291470 10:102753976-102753976 10:100994219-100994219
14 TWNK NM_021830.5(TWNK): c.*747C> G single nucleotide variant Uncertain significance rs886046638 10:102754014-102754014 10:100994257-100994257
15 TWNK NM_021830.5(TWNK): c.*763T> C single nucleotide variant Uncertain significance rs886046639 10:102754030-102754030 10:100994273-100994273
16 TWNK NM_021830.5(TWNK): c.-585T> G single nucleotide variant Uncertain significance rs886046624 10:102747383-102747383 10:100987626-100987626
17 TWNK NM_021830.5(TWNK): c.77G> T (p.Gly26Val) single nucleotide variant Uncertain significance rs772221026 10:102748044-102748044 10:100988287-100988287
18 TWNK NM_021830.5(TWNK): c.-470G> A single nucleotide variant Uncertain significance rs886046626 10:102747498-102747498 10:100987741-100987741
19 TWNK NM_021830.5(TWNK): c.-549G> A single nucleotide variant Uncertain significance rs886046625 10:102747419-102747419 10:100987662-100987662
20 TWNK NM_021830.5(TWNK): c.-423C> T single nucleotide variant Uncertain significance rs886046627 10:102747545-102747545 10:100987788-100987788
21 TWNK NM_021830.5(TWNK): c.*803A> G single nucleotide variant Uncertain significance rs886046640 10:102754070-102754070 10:100994313-100994313
22 TWNK NM_021830.5(TWNK): c.*619G> A single nucleotide variant Uncertain significance rs886046637 10:102753886-102753886 10:100994129-100994129
23 TWNK NM_021830.5(TWNK): c.*574C> T single nucleotide variant Uncertain significance rs886046636 10:102753841-102753841 10:100994084-100994084
24 TWNK NM_021830.5(TWNK): c.1853C> T (p.Pro618Leu) single nucleotide variant Uncertain significance rs886046632 10:102753065-102753065 10:100993308-100993308
25 TWNK NM_021830.5(TWNK): c.1527C> T (p.Asp509=) single nucleotide variant Likely benign rs62626272 10:102750235-102750235 10:100990478-100990478
26 TWNK NM_021830.5(TWNK): c.-650A> G single nucleotide variant Likely benign rs187213541 10:102747318-102747318 10:100987561-100987561
27 TWNK NM_021830.5(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 10:102749139-102749139 10:100989382-100989382
28 TWNK NM_021830.5(TWNK): c.-306_-305GT[1] short repeat Likely benign rs146265037 10:102747664-102747665 10:100987907-100987908
29 TWNK NM_021830.5(TWNK): c.76G> A (p.Gly26Ser) single nucleotide variant Likely benign rs577209883 10:102748043-102748043 10:100988286-100988286
30 TWNK NM_021830.5(TWNK): c.492C> T (p.Leu164=) single nucleotide variant Likely benign rs775463083 10:102748459-102748459 10:100988702-100988702
31 TWNK NM_021830.5(TWNK): c.1101C> T (p.Ile367=) single nucleotide variant Likely benign rs200798080 10:102749068-102749068 10:100989311-100989311
32 TWNK NM_021830.5(TWNK): c.*204G> A single nucleotide variant Likely benign rs61871507 10:102753471-102753471 10:100993714-100993714
33 TWNK NM_021830.5(TWNK): c.*419A> T single nucleotide variant Likely benign rs187553791 10:102753686-102753686 10:100993929-100993929
34 TWNK NM_021830.5(TWNK): c.*455C> T single nucleotide variant Likely benign rs148810959 10:102753722-102753722 10:100993965-100993965
35 TWNK NM_021830.5(TWNK): c.*472_*473GA[2] short repeat Likely benign rs370783985 10:102753743-102753744 10:100993986-100993987
36 TWNK NM_021830.5(TWNK): c.-290G> C single nucleotide variant Likely benign rs62626270 10:102747678-102747678 10:100987921-100987921
37 TWNK NM_021830.5(TWNK): c.*301C> T single nucleotide variant Likely benign rs41291468 10:102753568-102753568 10:100993811-100993811
38 TWNK NM_021830.5(TWNK): c.*367A> G single nucleotide variant Likely benign rs62626296 10:102753634-102753634 10:100993877-100993877
39 TWNK NM_021830.5(TWNK): c.-241C> T single nucleotide variant Likely benign rs113159821 10:102747727-102747727 10:100987970-100987970
40 TWNK NM_021830.5(TWNK): c.1488T> C (p.Thr496=) single nucleotide variant Likely benign rs549767223 10:102750196-102750196 10:100990439-100990439
41 TWNK NM_021830.5(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 10:102753257-102753257 10:100993500-100993500
42 TWNK NM_021830.5(TWNK): c.2050A> C (p.Lys684Gln) single nucleotide variant Likely benign rs369223258 10:102753262-102753262 10:100993505-100993505
43 TWNK NM_021830.5(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 10:102752933-102752933 10:100993176-100993176
44 TWNK NM_021830.5(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 10:102748606-102748606 10:100988849-100988849
45 TWNK NM_021830.5(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 10:102747363-102747363 10:100987606-100987606
46 TWNK NM_021830.5(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 10:102750623-102750623 10:100990866-100990866
47 TWNK NM_021830.5(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 10:102750621-102750621 10:100990864-100990864
48 TWNK NM_021830.5(TWNK): c.*521C> G single nucleotide variant Benign rs11542131 10:102753788-102753788 10:100994031-100994031
49 TWNK NM_021830.5(TWNK): c.*766A> T single nucleotide variant Benign rs3740488 10:102754033-102754033 10:100994276-100994276

Expression for Ataxia Neuropathy Spectrum

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

Pathways for Ataxia Neuropathy Spectrum

Pathways related to Ataxia Neuropathy Spectrum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 TWNK MRPL43

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 mitochondrion GO:0005739 9.13 TWNK POLG MRPL43
2 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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