ANS
MCID: ATX010
MIFTS: 36

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 43 58 70
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 70
Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia 43
Mitochondrial Recessive Ataxia Syndrome 43
Ataxia Neuropathy Spectrum Disorders 6
Ataxia Neuropathy Spectrum Disorder 6
Sando 43
Miras 43
Mira 17
Ans 43

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

UMLS via Orphanet 71 C3683791
Orphanet 58 ORPHA254818
UMLS 70 C1843851 C3683791

Summaries for Ataxia Neuropathy Spectrum

MedlinePlus Genetics : 43 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).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 POLG (DNA Polymerase Gamma, Catalytic Subunit). The drugs Midazolam and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and liver.

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 155)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 31.7 TWNK POLG
2 mitochondrial dna depletion syndrome 7 31.6 TWNK POLG
3 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.7 TWNK PRICKLE2-AS1 PRICKLE2 POLG
4 mitochondrial dna depletion syndrome 4a 30.2 TWNK POLG
5 dysphagia 29.9 TWNK POLG
6 kearns-sayre syndrome 29.8 TWNK POLG
7 autosomal dominant cerebellar ataxia 29.8 TWNK POLG
8 polg-related disorders 29.8 TWNK POLG
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 29.8 TWNK POLG
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 29.8 TWNK POLG
11 mitochondrial metabolism disease 29.7 TWNK POLG
12 mitochondrial disorders 29.5 TWNK POLG
13 ptosis 29.4 TWNK POLG
14 autonomic dysfunction 11.2
15 dysautonomia 11.2
16 neuropathy, hereditary sensory and autonomic, type iii 11.1
17 harlequin syndrome 11.1
18 leprosy 1 11.0
19 retinopathy, pericentral pigmentary, dominant 10.9
20 autonomic nervous system disease 10.9
21 rheumatoid arthritis 10.2
22 ataxia and polyneuropathy, adult-onset 10.1
23 neuropathy 10.1
24 arthritis 10.1
25 parkinsonism 10.0
26 tremor 10.0
27 liver disease 10.0
28 acute liver failure 10.0
29 myotonic cataract 10.0 TWNK POLG
30 mitochondrial dna maintenance defects 10.0 TWNK POLG
31 mitochondrial complex iii deficiency, nuclear type 2 10.0 TWNK POLG
32 mitochondrial dna depletion syndrome 6 10.0 TWNK POLG
33 mitochondrial dna depletion syndrome 10.0 TWNK POLG
34 pearson marrow-pancreas syndrome 10.0 TWNK POLG
35 neuropathy, ataxia, and retinitis pigmentosa 9.9 TWNK POLG
36 autosomal dominant progressive external ophthalmoplegia 9.9 TWNK POLG
37 mitochondrial dna depletion syndrome 3 9.9 TWNK POLG
38 diabetic polyneuropathy 9.9 TWNK POLG
39 mitochondrial dna depletion syndrome 4b 9.9 TWNK POLG
40 ocular motility disease 9.9 TWNK POLG
41 resting heart rate, variation in 9.9
42 autism spectrum disorder 9.9
43 post-traumatic stress disorder 9.9
44 prion disease 9.9
45 cranial nerve disease 9.9 TWNK POLG
46 myoclonic epilepsy associated with ragged-red fibers 9.9 TWNK POLG
47 axonal neuropathy 9.9 TWNK POLG
48 early myoclonic encephalopathy 9.9 TWNK POLG
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.9
50 gastroparesis 9.9

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):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit 59467-70-8 4192
2
Paclitaxel Approved, Vet_approved 33069-62-4 36314
3 Antimitotic Agents
4 Tubulin Modulators
5 Pharmaceutical Solutions
6 Anesthetics
7 Albumin-Bound Paclitaxel

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 The Mindfulness Intervention and Repeated Acute Stress (MIRAS) Study Unknown status NCT02894229
2 Evaluation of REAL IMAGING'S 3D Functional Metabolic Imaging and Risk Assessment ("3D MIRA") System in Women at High Risk for Breast Cancer Unknown status NCT02009150
3 Evaluation of Real Imaging's 3d Functional Metabolic Imaging and Risk Assessment (Mira) System Unknown status NCT02155075
4 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System in Classifying Women for Likelihood of Breast Cancer Unknown status NCT03080155
5 A Prospective, Randomized, Single Blind Study to Evaluate the Effectiveness and Safety Comparing Niti-S Mira-Cover III Biliary Stent With ComVi Biliary Covered Stent in Patients With Malignant Biliary Obstruction Completed NCT02460432
6 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052
7 Clinical Trial Comparing Patency and Safety of the Paclitaxel Eluting Covered Metallic Biliary Stent(Niti-S Mira-Cover Biliary Stent ) to the Common Covered Metallic Biliary Stent(Niti-S Biliary Stent) Completed NCT01512563
8 Community Based Doulas for Migrant Women in Labour and Birth in Sweden - a Randomised Controlled Trial Completed NCT03461640
9 Pneumatic Retinopexy Preceded by Drainage of Subretinal Fluid for the Treatment of Severe Bullous Retinal Detachment Completed NCT04139746
10 Effectiveness of Virtual Reality to Reduce Pre-Operative Anxiety Recruiting NCT04268914
11 Does the Application of a Digital Tool With Real-time, Self-reported Data Facilitate Shared Decision-making and Increase Self-efficacy in Vocational Rehabilitation? A Mixed Methods Study Recruiting NCT04695002
12 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Recruiting NCT03967834
13 Developing a Mobile Intervention for Veterans With PTSD and Problematic Anger Recruiting NCT03733028
14 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System in Classifying Women for Likelihood of Breast Cancer Recruiting NCT03296683
15 A Randomized Clinical Trial Comparing Patency and Safety of the Paclitaxel Eluting Covered Metallic Biliary Stent (Niti-S Mira-Cover II Biliary Stent) to the Common Covered Metallic Biliary Stent. Terminated NCT01413386
16 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System for Classifying Women at High Risk of Breast Cancer Terminated NCT02777164
17 Imaging Modality Effects on the Multi-dimensional InfraRed Analysis (MIRA) Technology Withdrawn NCT01029977

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
Eye, Kidney, Liver, Lung, Heart, Pancreas, Adrenal Gland

Publications for Ataxia Neuropathy Spectrum

Articles related to Ataxia Neuropathy Spectrum:

(show all 43)
# Title Authors PMID Year
1
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 61 6
12565911 2003
2
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 6
26942291 2016
3
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. 6
26942292 2016
4
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6
21276947 2011
5
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 6
19251978 2009
6
Do carriers of POLG mutation W748S have disease manifestations? 6
17894835 2007
7
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 6
17426723 2007
8
POLG mutations in Alpers syndrome. 6
16177225 2005
9
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 6
16080118 2005
10
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. 6
16130100 2005
11
POLG mutations and Alpers syndrome. 6
15929042 2005
12
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 6
15824347 2005
13
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 6
15477547 2004
14
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 6
15122711 2004
15
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 6
14745080 2004
16
Patient homozygous for a recessive POLG mutation presents with features of MERRF. 6
14694057 2003
17
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. 6
11571332 2001
18
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 6
11431686 2001
19
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. 6
632821 1978
20
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis. 61
33791913 2021
21
Rod bipolar cell dysfunction in POLG retinopathy. 61
32567010 2021
22
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report. 61
32600829 2020
23
POLG-related disorders and their neurological manifestations. 61
30451971 2019
24
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. 61
28480171 2017
25
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. 61
28508084 2017
26
Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report. 61
27552387 2016
27
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 61
26755490 2016
28
Clinical and molecular features of POLG-related mitochondrial disease. 61
23545419 2013
29
[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions]. 61
23524600 2013
30
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? 61
23250882 2012
31
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. 61
22805437 2012
32
Epilepsy in mitochondrial disorders. 61
22459315 2012
33
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 61
20513108 2010
34
POLG-Related Disorders 61
20301791 2010
35
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 61
19813183 2010
36
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 61
18546365 2008
37
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. 61
17470496 2007
38
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 61
17088268 2006
39
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
40
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 61
15668446 2005
41
SANDO: another presentation of mitochondrial disease. 61
15126171 2004
42
[A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy]. 61
14727565 2003
43
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 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
2 POLG NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) SNV Pathogenic 13499 rs121918046 GRCh37: 15:89868751-89868751
GRCh38: 15:89325520-89325520
3 POLG NM_002693.2(POLG):c.2794C>T (p.His932Tyr) SNV Pathogenic 13500 rs121918048 GRCh37: 15:89864184-89864184
GRCh38: 15:89320953-89320953
4 POLG NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) SNV Pathogenic 13501 rs121918049 GRCh37: 15:89862284-89862284
GRCh38: 15:89319053-89319053
5 TWNK NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) SNV Pathogenic 4625 rs80356543 GRCh37: 10:102748922-102748922
GRCh38: 10:100989165-100989165
6 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Pathogenic 206528 rs144500145 GRCh37: 15:89865011-89865011
GRCh38: 15:89321780-89321780
7 POLG NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic 13497 rs121918044 GRCh37: 15:89872286-89872286
GRCh38: 15:89329055-89329055
8 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
9 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
10 PRICKLE2-AS1 , PRICKLE2 NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) SNV Pathogenic 30733 rs387906989 GRCh37: 3:64085449-64085449
GRCh38: 3:64099773-64099773
11 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
12 POLG NM_002693.2(POLG):c.3630C>A (p.Tyr1210Ter) SNV Pathogenic 694430 rs139562274 GRCh37: 15:89860620-89860620
GRCh38: 15:89317389-89317389
13 POLG NM_002693.2(POLG):c.3570_3573GAAG[1] (p.Lys1191_Glu1192insTer) Microsatellite Pathogenic 807659 rs1596348443 GRCh37: 15:89860673-89860676
GRCh38: 15:89317442-89317445
14 POLG NM_002693.2(POLG):c.2515del (p.Ala839fs) Deletion Pathogenic 807660 rs1596352895 GRCh37: 15:89865050-89865050
GRCh38: 15:89321819-89321819
15 POLG NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) SNV Pathogenic 279982 rs769827124 GRCh37: 15:89865980-89865980
GRCh38: 15:89322749-89322749
16 POLG NM_002693.2(POLG):c.678G>C (p.Gln226His) SNV Likely pathogenic 206581 rs147282197 GRCh37: 15:89873489-89873489
GRCh38: 15:89330258-89330258
17 POLG NM_002693.2(POLG):c.2792T>G (p.Leu931Arg) SNV Likely pathogenic 694424 rs1484810169 GRCh37: 15:89864186-89864186
GRCh38: 15:89320955-89320955
18 POLG NM_002693.2(POLG):c.1362G>T (p.Glu454Asp) SNV Likely pathogenic 807661 rs1596358408 GRCh37: 15:89870469-89870469
GRCh38: 15:89327238-89327238
19 POLG NM_002693.3(POLG):c.3286C>T SNV Likely pathogenic 206556 rs201732356 GRCh37: 15:89861968-89861968
GRCh38: 15:89318737-89318737
20 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Likely pathogenic 13513 rs121918054 GRCh37: 15:89866691-89866691
GRCh38: 15:89323460-89323460
21 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Likely pathogenic 195182 rs765472726 GRCh37: 15:89876954-89876954
GRCh38: 15:89333723-89333723
22 POLG NM_002693.3(POLG):c.924G>T (p.Gln308His) SNV Likely pathogenic 268096 rs745539599 GRCh37: 15:89872273-89872273
GRCh38: 15:89329042-89329042
23 POLG NM_002693.3(POLG):c.2243G>C SNV Conflicting interpretations of pathogenicity 13507 rs113994097 GRCh37: 15:89866657-89866657
GRCh38: 15:89323426-89323426
24 TWNK NM_021830.5(TWNK):c.913G>A (p.Val305Ile) SNV Uncertain significance 880052 GRCh37: 10:102748880-102748880
GRCh38: 10:100989123-100989123
25 TWNK NM_021830.5(TWNK):c.*453G>A SNV Uncertain significance 880257 GRCh37: 10:102753720-102753720
GRCh38: 10:100993963-100993963
26 TWNK NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) SNV Uncertain significance 878400 GRCh37: 10:102753118-102753118
GRCh38: 10:100993361-100993361
27 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV Uncertain significance 214185 rs863223921 GRCh37: 10:102749163-102749163
GRCh38: 10:100989406-100989406
28 TWNK NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV Uncertain significance 878940 GRCh37: 10:102750630-102750630
GRCh38: 10:100990873-100990873
29 TWNK NM_021830.5(TWNK):c.*561C>T SNV Uncertain significance 879092 GRCh37: 10:102753828-102753828
GRCh38: 10:100994071-100994071
30 TWNK NM_021830.5(TWNK):c.-584G>C SNV Uncertain significance 879588 GRCh37: 10:102747384-102747384
GRCh38: 10:100987627-100987627
31 POLG NM_002693.3(POLG):c.1811C>T (p.Ala604Val) SNV Uncertain significance 982840 GRCh37: 15:89868819-89868819
GRCh38: 15:89325588-89325588
32 POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Uncertain significance 65665 rs61752783 GRCh37: 15:89870178-89870178
GRCh38: 15:89326947-89326947
33 POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Uncertain significance 206462 rs200257554 GRCh37: 15:89867387-89867387
GRCh38: 15:89324156-89324156
34 POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Uncertain significance 193643 rs147407423 GRCh37: 15:89868793-89868793
GRCh38: 15:89325562-89325562
35 POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 GRCh37: 15:89872335-89872335
GRCh38: 15:89329104-89329104
36 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Uncertain significance 196354 rs61752784 GRCh37: 15:89873364-89873364
GRCh38: 15:89330133-89330133
37 POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 GRCh37: 15:89862304-89862304
GRCh38: 15:89319073-89319073
38 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Uncertain significance 198151 rs145289229 GRCh37: 15:89871763-89871763
GRCh38: 15:89328532-89328532
39 POLG NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) SNV Uncertain significance 206589 rs199759055 GRCh37: 15:89871930-89871930
GRCh38: 15:89328699-89328699
40 POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 GRCh37: 15:89862465-89862465
GRCh38: 15:89319234-89319234
41 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Uncertain significance 206516 rs138457939 GRCh37: 15:89866693-89866693
GRCh38: 15:89323462-89323462
42 TWNK NM_021830.5(TWNK):c.*341G>A SNV Uncertain significance 878455 GRCh37: 10:102753608-102753608
GRCh38: 10:100993851-100993851
43 TWNK NM_021830.5(TWNK):c.*346A>C SNV Uncertain significance 878456 GRCh37: 10:102753613-102753613
GRCh38: 10:100993856-100993856
44 TWNK NM_021830.5(TWNK):c.*552G>C SNV Uncertain significance 878511 GRCh37: 10:102753819-102753819
GRCh38: 10:100994062-100994062
45 TWNK NM_021830.5(TWNK):c.*769G>A SNV Uncertain significance 878551 GRCh37: 10:102754036-102754036
GRCh38: 10:100994279-100994279
46 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Uncertain significance 206596 rs145843073 GRCh37: 15:89870429-89870429
GRCh38: 15:89327198-89327198
47 TWNK NM_021830.5(TWNK):c.-622C>T SNV Uncertain significance 877083 GRCh37: 10:102747346-102747346
GRCh38: 10:100987589-100987589
48 TWNK NM_021830.5(TWNK):c.-418C>T SNV Uncertain significance 877145 GRCh37: 10:102747550-102747550
GRCh38: 10:100987793-100987793
49 TWNK NM_021830.5(TWNK):c.-304G>A SNV Uncertain significance 877146 GRCh37: 10:102747664-102747664
GRCh38: 10:100987907-100987907
50 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV Uncertain significance 632124 rs758026634 GRCh37: 10:102749037-102749037
GRCh38: 10:100989280-100989280

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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