SANDO
MCID: SNS008
MIFTS: 59

Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

MalaCards integrated aliases for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

Name: Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 56 12 52 43 15 71
Mitochondrial Recessive Ataxia Syndrome 56 73 36 13 39
Sando 56 12 52 58 73
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome 58 29 6
Spinocerebellar Ataxia with Epilepsy 58 73 71
Epilepsy, Progressive Myoclonic 5 73 29 6
Miras 58 73
Mscae 58 73
Scae 58 73
Epm5 58 73
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions, Autosomal Recessive 56
Autosomal Recessive Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions 12
Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions Autosomal Recessive 73
Progressive Myoclonic Epilepsy with Sensory Ataxic Neuropathy 73
Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis 73
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome 73
Mitochondrial Spinocerebellar Ataxia with Epilepsy 58
Epilepsy, Myoclonic, Progressive, Type 5 39
Recessive Mitochondrial Ataxia Syndrome 58
Progressive Myoclonic Epilepsy Type 5 58
Progressive Myoclonus Epilepsy Type 5 58
Epilepsy, Progressive Myoclonic, 5 71
Ataxia Neuropathy Spectrum 71
Pme Type 5 58
Mira 17

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia with epilepsy
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;
progressive myoclonic epilepsy type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;
sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Inheritance: Autosomal recessive; Age of onset: Adult;
recessive mitochondrial ataxia syndrome
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
young-adult onset (18-30 years) of sensory ataxia
later onset of ophthalmoparesis


HPO:

31
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

UniProtKB/Swiss-Prot : 73 Sensory ataxic neuropathy dysarthria and ophthalmoparesis: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss.
Spinocerebellar ataxia with epilepsy: An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.

MalaCards based summary : Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis, also known as mitochondrial recessive ataxia syndrome, is related to ataxia neuropathy spectrum and mitochondrial dna depletion syndrome 7, and has symptoms including ophthalmoplegia An important gene associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways is Nucleotide Metabolism. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, breast and spinal cord, and related phenotypes are behavioral abnormality and cognitive impairment

Disease Ontology : 12 A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has material basis in homozygous or compound heterozygous mutation in POLG on 15q26.1.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70595 Definition Sensory ataxic neuropathy-dysarthria -ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. Epidemiology The prevalence is unknown. Clinical description Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy . Etiology The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes . Genetic counseling Autosomal recessive and dominant inheritance, as well as sporadic occurrence, have been suggested. Visit the Orphanet disease page for more resources.

OMIM : 56 SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) resulting from mitochondrial dysfunction and associated with mtDNA depletion in skeletal muscle and peripheral nerve tissue (Fadic et al., 1997). The phenotype varies widely, even within the same family, and can include myopathy, seizures, and hearing loss, but the common clinical feature appears to be sensory ataxia (review by Milone and Massie, 2010). Spinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches and seizures (Winterthun et al., 2005). (607459)

KEGG : 36 Mitochondrial recessive ataxia syndrome (MIRAS) is the mitochondrial disease, that is caused by mutations of the POLG1 gene encoding the mitochondrial DNA polymerase gamma enzyme. MIRAS includes the sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) and Spinocerebellar ataxia with epilepsy (SCAE). MIRAS is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. Most cases of SANDO present with an initial stage of sensory neuropathy, a second stage of progressive external ophahlmoplegia and dysarthria, which is then followed by other symptoms, often with epilepsia or myoclonus.

Related Diseases for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 ataxia neuropathy spectrum 34.1 TWNK POLG
2 mitochondrial dna depletion syndrome 7 31.8 TYMP TWNK SLC25A4 SACS RRM2B POLG2
3 ptosis 31.0 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
4 mitochondrial neurogastrointestinal encephalomyopathy 30.8 TYMP RRM2B POLG
5 autosomal dominant cerebellar ataxia 30.5 TWNK SACS POLG
6 peripheral nervous system disease 30.4 TYMP TWNK SACS POLG NPTX2 MT-TK
7 kearns-sayre syndrome 30.3 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
8 polyneuropathy 30.3 TWNK POLG MPV17
9 chronic progressive external ophthalmoplegia 30.2 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
10 mitochondrial disorders 30.2 TWNK SLC25A4 RRM2B POLG NDUFAF3 MT-TK
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 30.1 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 30.1 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
13 mitochondrial dna depletion syndrome 4a 29.8 TYMP TWNK RRM2B POLG2 POLG NPTX2
14 mitochondrial metabolism disease 29.4 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
15 myoclonic epilepsy myopathy sensory ataxia 11.9
16 leprosy 1 11.2
17 neuropathy 10.6
18 polg-related disorders 10.6 TWNK POLG
19 ataxia and polyneuropathy, adult-onset 10.5
20 mitochondrial dna depletion syndrome 12a 10.5 SLC25A4 POLG
21 3-methylglutaconic aciduria, type iv 10.5 POLG DARS2
22 mitochondrial dna depletion syndrome 1 10.5 TYMP POLG MT-TK
23 visual cortex disease 10.5 POLG2 POLG
24 neonatal period electroclinical syndrome 10.4 POLG NPTX2 MT-TK
25 electroclinical syndrome 10.4 POLG NPTX2 MT-TK
26 mitochondrial dna depletion syndrome 8a 10.4 TYMP RRM2B
27 visual pathway disease 10.4 POLG2 POLG
28 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.4 POLG MPV17 DARS2
29 gaucher disease, type iii 10.4 GRIK1 APEX2
30 early myoclonic encephalopathy 10.4 POLG NPTX2 MT-TK
31 sensorineural hearing loss 10.4
32 charcot-marie-tooth disease 10.4
33 tooth disease 10.4
34 movement disease 10.4
35 dysphagia 10.4
36 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.4 TWNK SACS ATCAY
37 spinocerebellar ataxia, autosomal recessive 14 10.4 SACS DARS2
38 lichtenstein-knorr syndrome 10.4 SACS ATCAY
39 motor peripheral neuropathy 10.4 POLG MPV17 DGUOK
40 hypercholesterolemia, familial, 4 10.4 SPAG17 GRIK1 APEX2
41 spastic ataxia, charlevoix-saguenay type 10.4 SACS ATCAY
42 rheumatoid arthritis 10.4
43 marinesco-sjogren syndrome 10.4 SACS POLG ATCAY
44 optic nerve disease 10.4 TWNK POLG NPTX2 MT-TK
45 myotonic cataract 10.3 TYMP TWNK POLG NPTX2 MT-TK
46 neuropathy, ataxia, and retinitis pigmentosa 10.3 TYMP TWNK POLG NPTX2 MT-TK
47 mitochondrial dna depletion syndrome 5 10.3 POLG MPV17 DGUOK DARS2
48 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 10.3 NPTX2 MT-TK
49 cranial nerve disease 10.3 TYMP TWNK POLG NPTX2 MT-TK
50 autosomal dominant progressive external ophthalmoplegia 10.3 TWNK SLC25A4 RRM2B POLG2 POLG

Graphical network of the top 20 diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:



Diseases related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Symptoms & Phenotypes for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Human phenotypes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
2 cognitive impairment 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0100543
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
7 hashimoto thyroiditis 58 31 frequent (33%) Frequent (79-30%) HP:0000872
8 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
9 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
10 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
11 dysarthria 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001260
12 areflexia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001284
13 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
14 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
15 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
16 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
17 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
18 positive romberg sign 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002403
19 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002495
20 impaired distal proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0006858
21 increased serum pyruvate 58 31 frequent (33%) Frequent (79-30%) HP:0003542
22 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
23 vestibular dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0001751
24 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
25 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
26 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
27 abnormal thalamic mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012696
28 sensory axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003390
29 sensory ataxic neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003434
30 limb dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0002406
31 st segment elevation 58 31 frequent (33%) Frequent (79-30%) HP:0012251
32 upgaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0025331
33 abnormal morphology of the cerebellar cortex 58 31 frequent (33%) Frequent (79-30%) HP:0031422
34 abnormality of central motor conduction 58 31 frequent (33%) Frequent (79-30%) HP:0012079
35 atrophy/degeneration involving the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0007344
36 seizure 31 occasional (7.5%) HP:0001250
37 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
38 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
39 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
40 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
41 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
42 gastroparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002578
43 intestinal pseudo-obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0004389
44 seizures 58 Frequent (79-30%),Occasional (29-5%)
45 sensorineural hearing impairment 31 HP:0000407
46 elevated serum creatine kinase 31 HP:0003236
47 ataxia 58 Frequent (79-30%)
48 peripheral neuropathy 58 Frequent (79-30%)
49 abnormality of movement 58 Frequent (79-30%)
50 progressive external ophthalmoplegia 31 HP:0000590

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
blepharoptosis
upward gaze paresis
ophthalmoparesis, progressive, external
cataracts (less common)

Neurologic Central Nervous System:
areflexia
migraine
hyporeflexia
positive romberg sign
cognitive impairment, mild
more
Neurologic Peripheral Nervous System:
sensory axonal neuropathy
sensory ataxic neuropathy
distal sensory impairment to vibration and proprioception
sural nerve biopsy shows loss of large and small myelinated axons

Laboratory Abnormalities:
mildly increased serum creatine kinase
mildly increased serum lactate

Abdomen Gastrointestinal:
gastroparesis (less common)
intestinal pseudo-obstruction (less common)

Muscle Soft Tissue:
dysarthria
ragged red fibers seen on muscle biopsy
increased variation in fiber size
necrotic and atrophic fibers with centralized nuclei
subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy
more
Head And Neck Ears:
vestibular dysfunction
sensorineural hearing loss

Neurologic Behavioral Psychiatric Manifestations:
depression
memory difficulties
lack of concentration
withdrawal

Cardiovascular Heart:
dilated cardiomyopathy (less common)

Clinical features from OMIM:

607459

UMLS symptoms related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:


ophthalmoplegia

GenomeRNAi Phenotypes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.32 C1S DGUOK MPV17 SLC25A4 TYMP
2 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 9.32 C1S DGUOK MPV17 SLC25A4 TYMP

MGI Mouse Phenotypes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 ATCAY GRIK1 MPV17 NPTX2 OTOS POLG

Drugs & Therapeutics for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Drugs for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc Phase 2, Phase 3
2 insulin Phase 2, Phase 3
3 Hypoglycemic Agents Phase 2, Phase 3
4
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
5 Hormones Phase 1, Phase 2
6
Lopinavir Approved 192725-17-0 92727
7
Nevirapine Approved 129618-40-2 4463
8
Emtricitabine Approved, Investigational 143491-57-0 60877
9
Efavirenz Approved, Investigational 154598-52-4 64139
10
Abacavir Approved, Investigational 136470-78-5 441300 65140
11
Darunavir Approved 206361-99-1, 635728-49-3 213039
12
Lamivudine Approved, Investigational 134678-17-4 60825
13
Rilpivirine Approved 500287-72-9
14
Ritonavir Approved, Investigational 155213-67-5 392622
15
Fosamprenavir Approved 226700-79-4 131536
16
Etravirine Approved 269055-15-4 193962
17
Maraviroc Approved, Investigational 376348-65-1 3002977
18
Zidovudine Approved 30516-87-1 35370
19
Orlistat Approved, Investigational 96829-58-2 3034010
20
Midazolam Approved, Illicit 59467-70-8 4192
21
Paclitaxel Approved, Vet_approved 33069-62-4 36314
22
Aspartic acid Approved, Nutraceutical 56-84-8 5960
23
Tenofovir Experimental, Investigational 147127-20-6 464205
24 Tubulin Modulators
25 Antimitotic Agents
26 Pharmaceutical Solutions
27 Vaccines
28 Integrase Inhibitors
29 Reverse Transcriptase Inhibitors
30 Lamivudine, zidovudine drug combination
31 Antiviral Agents
32
protease inhibitors
33 HIV Protease Inhibitors
34 Anti-Retroviral Agents
35 Anti-Infective Agents
36 N-Methylaspartate
37
Bilirubin 69853-43-6, 635-65-4 21252250 5280352
38 HIV Integrase Inhibitors
39 Raltegravir Potassium
40 Atazanavir Sulfate
41 Mitogens
42 Anti-Obesity Agents
43 Lipid Regulating Agents
44 Anesthetics
45 Albumin-Bound Paclitaxel
46
L-Alanine Nutraceutical 56-41-7 5950

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Multicenter, Prospective, Randomized, Controlled Open Study Albumin 20% Versus Saline Completed NCT00327704 Phase 4 albumin;saline
2 Procalcitonin and the Inflammatory Response to Salt in Essential Hypertension: a Randomised Cross-over Clinical Trial. Completed NCT01665534 Phase 3
3 Effect of Hyperglycemia in PAI-1 Activity and the Relationship With Outcome in Severe Sepsis and Septic Shock Completed NCT00159952 Phase 2, Phase 3
4 Safety and Effectiveness, in a Multi-Center, Randomized, Sham Controlled Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD)Using Rheopheresis Suspended NCT00460967 Phase 3
5 Comparison of Two Hormonal Fertility Monitors for Use in Natural Family Planning Not yet recruiting NCT03908697 Phase 1, Phase 2
6 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
7 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System in Classifying Women for Likelihood of Breast Cancer Unknown status NCT03080155
8 Evaluation of Real Imaging's 3d Functional Metabolic Imaging and Risk Assessment (Mira) System Unknown status NCT02155075
9 A Multicenter, Open Label, Prospective Study to Determine Safety and Efficacy Over an Additional 12-Month Period With Non-Exudative Age-Related Macular Degeneration (With Follow-on to 12-Months) Unknown status NCT00380172
10 The Mindfulness Intervention and Repeated Acute Stress (MIRAS) Study Unknown status NCT02894229
11 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
12 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
13 A Multi-centre, Cluster Randomised Controlled Trial Comparing Falls Prevention Exergames With Remote Monitoring Against Standard Falls Prevention Programmes for Community Dwelling Older Adults at Risk of Falls. Completed NCT02634736
14 Pneumatic Retinopexy Preceded by Drainage of Subretinal Fluid for the Treatment of Severe Bullous Retinal Detachment Completed NCT04139746
15 Acute Consumption of Fuji Apple Juice Does Not Affect Oxidative Stress Biomarkers in Hemodialysis Patients: A Pilot Intervention Study Completed NCT02974491
16 Transcutaneous Electrical Nerve Stimulation (TENS) Self-applied as Complementary Treatment for Pain and Its Impact on Quality of Life and Sexuality of Women With Deep Endometriosis: Randomized Controlled Trial Completed NCT02769052
17 Mussels, Inflammation and Rheumatoid Arthritis (MIRA) Completed NCT02522052
18 An Investigation Into the Outcome of NAET Treatment on Children With Allergy-Related Autism Spectrum Disorders in a Multi-Clinical Setting. Completed NCT00277407
19 Effects of Low Intensity Aerobic Exercise Training on the Microvascular Endothelial Function of Patients With Type 1 Diabetes: a Non-pharmacological Interventional Study Completed NCT02441504
20 Hepatic Safety of Currently Used Antiretroviral Regimens in HIV-infected Patients With Chronic Hepatitis B and/or Hepatitis C Under Real Life Conditions: The HEPAVIR HEPATIC SAFETY Cohort. Completed NCT01908660 antiretroviral drugs
21 Evaluation of Baseline and Stimulated GH/IGF-1 AXIS in Obese Subjects in Treatment With Orlistat Completed NCT00991926 Orlistat
22 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System in Classifying Women for Likelihood of Breast Cancer Recruiting NCT03296683
23 Effectiveness of Virtual Reality to Reduce Pre-Operative Anxiety Recruiting NCT04268914
24 Community Based Doulas for Migrant Women in Labour and Birth in Sweden - a Randomised Controlled Trial Recruiting NCT03461640
25 Evaluation of REAL IMAGING'S 3D Functional Metabolic Imaging and Risk Assessment ("3D MIRA") System in Women at High Risk for Breast Cancer Active, not recruiting NCT02009150
26 A Multi-centre, Randomised, Controlled Study Comparing Gamification With Remote Monitoring Against Standard Rehabilitation, for Patients After Arthroscopic Subacromial Decompression Surgery Active, not recruiting NCT02705521
27 Developing a Mobile Intervention for Veterans With PTSD and Problematic Anger Not yet recruiting NCT03733028
28 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Not yet recruiting NCT03967834
29 Evaluation of a Three Dimensional Functional Metabolic Imaging and Risk Assessment System for Classifying Women at High Risk of Breast Cancer Terminated NCT02777164
30 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
31 Imaging Modality Effects on the Multi-dimensional InfraRed Analysis (MIRA) Technology Withdrawn NCT01029977
32 A Data Collection Study for the Evaluation of Real Imaging's Real Imager 8 (RI-8) Developed for Risk Assessment of Breast Cancer Withdrawn NCT02505698

Search NIH Clinical Center for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Cochrane evidence based reviews: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Genetic Tests for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Genetic tests related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

# Genetic test Affiliating Genes
1 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome 29 POLG TWNK
2 Epilepsy, Progressive Myoclonic 5 29

Anatomical Context for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

MalaCards organs/tissues related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

40
Skeletal Muscle, Breast, Spinal Cord, Cortex, Thyroid, Endothelial, Kidney

Publications for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Articles related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 61 56 6
12565911 2003
2
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 56 6
26942291 2016
3
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. 56 6
26942292 2016
4
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6 56
21276947 2011
5
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 6 56
16080118 2005
6
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 56 6
15824347 2005
7
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 6 56
15477547 2004
8
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 56 6
14745080 2004
9
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. 56 6
11571332 2001
10
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. 56 6
632821 1978
11
POLG-Related Disorders 61 6
20301791 2010
12
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. 61 56
9222196 1997
13
Polymerase gamma 1 mutations: clinical correlations. 56
20220442 2010
14
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 56
19752458 2009
15
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 6
19251978 2009
16
Do carriers of POLG mutation W748S have disease manifestations? 6
17894835 2007
17
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 6
17426723 2007
18
POLG mutations in Alpers syndrome. 6
16177225 2005
19
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. 6
16130100 2005
20
POLG mutations and Alpers syndrome. 6
15929042 2005
21
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 6
15122711 2004
22
Patient homozygous for a recessive POLG mutation presents with features of MERRF. 6
14694057 2003
23
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 6
11431686 2001
24
Rod bipolar cell dysfunction in POLG retinopathy. 61
32567010 2020
25
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019
26
Correction: Sando E. et al. Serological Cross-Reactivity among Orientia tsutsugamushi Serotypes but Not with Rickettsia japonica in Japan. Trop. Med. Infect. Dis. 2018, 3, 74. 61
30366455 2018
27
Distinctive cerebral neuropathology in an adult case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome. 61
28792617 2018
28
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype. 61
29644085 2018
29
Outcomes of Endoscopic Dacryocystorhinostomy in Secondary Acquired Nasolacrimal Duct Obstruction: A Case-Control Study. 61
27997463 2018
30
Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report. 61
27552387 2016
31
Movement disorders in mitochondrial diseases. 61
27476418 2016
32
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 61
26735972 2016
33
Cylindrical angular spectrum using Fourier coefficients of point light source and its application to fast hologram calculation. 61
26698438 2015
34
Resistance to the Ug99 Race Group of Puccinia graminis f. sp. tritici in Wheat-Intra/intergeneric Hybrid Derivatives. 61
30690994 2015
35
Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome. 61
30838234 2015
36
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. 61
25143630 2015
37
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. 61
25660390 2015
38
Severe cytomegalovirus infection in a second kidney transplant recipient treated with ganciclovir, leflunomide, and immunoglobulins, with complications including seizures, acute HCV infection, drug-induced pancytopenia, diabetes, cholangitis, and multi-organ failure with fatal outcome: a case report. 61
25813912 2015
39
POLG1-related levodopa-responsive parkinsonism. 61
25203713 2014
40
Diagnostic and treatment dilemmas of persistent chronic hypokalaemia in a patient with anorexia nervosa: a case report. 61
25193360 2014
41
Inherited peripheral neuropathies due to mitochondrial disorders. 61
24768438 2014
42
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. 61
24099403 2013
43
Diagnostic challenges in movement disorders: Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome. 61
23997076 2013
44
Commercialization of regenerative medicine: learning from spin-outs. 61
23470045 2013
45
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. 61
22729384 2013
46
[A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions]. 61
23524600 2013
47
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? 61
23250882 2012
48
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 61
22931735 2012
49
MELAS/SANDO overlap syndrome associated with POLG1 mutations. 61
21647632 2012
50
A novel POLG gene mutation in a patient with SANDO. 61
24265579 2012

Variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

ClinVar genetic disease variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

6 (show top 50) (show all 205) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLG NM_002693.2(POLG):c.3630C>A (p.Tyr1210Ter)SNV Pathogenic 694430 15:89860620-89860620 15:89317389-89317389
2 POLG NM_002693.2(POLG):c.3570_3573GAAG[1] (p.Lys1191_Glu1192insTer)short repeat Pathogenic 807659 15:89860673-89860676 15:89317442-89317445
3 POLG NM_002693.2(POLG):c.2515del (p.Ala839fs)deletion Pathogenic 807660 15:89865050-89865050 15:89321819-89321819
4 TWNK NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)SNV Pathogenic 4625 rs80356543 10:102748922-102748922 10:100989165-100989165
5 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201
6 POLG NM_002693.2(POLG):c.1879C>T (p.Arg627Trp)SNV Pathogenic 13499 rs121918046 15:89868751-89868751 15:89325520-89325520
7 POLG NM_002693.2(POLG):c.2794C>T (p.His932Tyr)SNV Pathogenic 13500 rs121918048 15:89864184-89864184 15:89320953-89320953
8 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser)SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792
9 PRICKLE2 NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)SNV Pathogenic 30733 rs387906989 3:64085449-64085449 3:64099773-64099773
10 PRICKLE2 NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)deletion Pathogenic 209186 rs797045065 3:64145632-64145632 3:64159956-64159956
11 POLG NM_002693.3(POLG):c.3286C>TSNV Pathogenic/Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737
12 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460
13 POLG NM_002693.2(POLG):c.911T>G (p.Leu304Arg)SNV Pathogenic/Likely pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055
14 POLG NM_002693.2(POLG):c.1362G>T (p.Glu454Asp)SNV Likely pathogenic 807661 15:89870469-89870469 15:89327238-89327238
15 POLG NM_002693.2(POLG):c.2792T>G (p.Leu931Arg)SNV Likely pathogenic 694424 15:89864186-89864186 15:89320955-89320955
16 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)SNV Conflicting interpretations of pathogenicity 632124 rs758026634 10:102749037-102749037 10:100989280-100989280
17 TWNK NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)SNV Conflicting interpretations of pathogenicity 426493 rs767175342 10:102748023-102748023 10:100988266-100988266
18 PRICKLE2 NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)SNV Conflicting interpretations of pathogenicity 433101 rs202170644 3:64132852-64132852 3:64147176-64147176
19 PRICKLE2 NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)SNV Conflicting interpretations of pathogenicity 448123 rs367680077 3:64142844-64142844 3:64157168-64157168
20 POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val)SNV Conflicting interpretations of pathogenicity 451086 rs376306906 15:89867381-89867381 15:89324150-89324150
21 PRICKLE2 NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)SNV Conflicting interpretations of pathogenicity 478004 rs144757200 3:64132564-64132564 3:64146888-64146888
22 POLG NM_002693.2(POLG):c.3667A>G (p.Ile1223Val)SNV Conflicting interpretations of pathogenicity 458718 rs148786642 15:89860035-89860035 15:89316804-89316804
23 POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser)SNV Conflicting interpretations of pathogenicity 458687 rs775576189 15:89870555-89870555 15:89327324-89327324
24 TWNK NM_021830.5(TWNK):c.1244-14C>TSNV Conflicting interpretations of pathogenicity 507889 rs758757135 10:102749387-102749387 10:100989630-100989630
25 TWNK NM_021830.5(TWNK):c.672T>C (p.Ala224=)SNV Conflicting interpretations of pathogenicity 878844 10:102748639-102748639 10:100988882-100988882
26 TWNK NM_021830.5(TWNK):c.1953G>A (p.Lys651=)SNV Conflicting interpretations of pathogenicity 878401 10:102753165-102753165 10:100993408-100993408
27 PRICKLE2 NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)SNV Conflicting interpretations of pathogenicity 242689 rs139747674 3:64142981-64142981 3:64157305-64157305
28 POLG NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser)SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426
29 POLG NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg)SNV Conflicting interpretations of pathogenicity 13501 rs121918049 15:89862284-89862284 15:89319053-89319053
30 POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val)SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947
31 TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=)SNV Conflicting interpretations of pathogenicity 136587 rs11542130 10:102748606-102748606 10:100988849-100988849
32 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala)SNV Conflicting interpretations of pathogenicity 196354 rs61752784 15:89873364-89873364 15:89330133-89330133
33 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val)SNV Conflicting interpretations of pathogenicity 198151 rs145289229 15:89871763-89871763 15:89328532-89328532
34 PRICKLE2 NM_198859.4(PRICKLE2):c.788-6T>CSNV Conflicting interpretations of pathogenicity 198631 rs180903875 3:64133384-64133384 3:64147708-64147708
35 PRICKLE2 NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)SNV Conflicting interpretations of pathogenicity 198931 rs148689951 3:64085071-64085071 3:64099395-64099395
36 TWNK NM_021830.5(TWNK):c.1735-14C>ASNV Conflicting interpretations of pathogenicity 136594 rs201795189 10:102752933-102752933 10:100993176-100993176
37 POLG NM_002693.2(POLG):c.2601T>C (p.Pro867=)SNV Conflicting interpretations of pathogenicity 138750 rs201749977 15:89864489-89864489 15:89321258-89321258
38 POLG NM_002693.2(POLG):c.3482+6C>TSNV Conflicting interpretations of pathogenicity 138760 rs55779802 15:89861766-89861766 15:89318535-89318535
39 POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr)SNV Conflicting interpretations of pathogenicity 193643 rs147407423 15:89868793-89868793 15:89325562-89325562
40 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp)SNV Conflicting interpretations of pathogenicity 195182 rs765472726 15:89876954-89876954 15:89333723-89333723
41 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)SNV Conflicting interpretations of pathogenicity 214185 rs863223921 10:102749163-102749163 10:100989406-100989406
42 TWNK NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973
43 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)SNV Conflicting interpretations of pathogenicity 214178 rs370814108 10:102753187-102753187 10:100993430-100993430
44 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His)SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500
45 POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=)SNV Conflicting interpretations of pathogenicity 239380 rs146404260 15:89862488-89862488 15:89319257-89319257
46 TWNK NM_021830.5(TWNK):c.241C>G (p.Leu81Val)SNV Conflicting interpretations of pathogenicity 279715 rs145068570 10:102748208-102748208 10:100988451-100988451
47 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=)SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594
48 PRICKLE2 NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)SNV Conflicting interpretations of pathogenicity 281799 rs200220646 3:64085159-64085159 3:64099483-64099483
49 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys)SNV Conflicting interpretations of pathogenicity 206528 rs144500145 15:89865011-89865011 15:89321780-89321780
50 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser)SNV Conflicting interpretations of pathogenicity 206516 rs138457939 15:89866693-89866693 15:89323462-89323462

UniProtKB/Swiss-Prot genetic disease variations for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis:

73
# Symbol AA change Variation ID SNP ID
1 POLG p.Ala467Thr VAR_012155 rs113994095
2 POLG p.Gln497His VAR_023669 rs121918052
3 POLG p.Arg627Trp VAR_023672 rs121918046
4 POLG p.His932Tyr VAR_023679 rs121918048
5 POLG p.Gly1051Arg VAR_023684 rs121918049
6 POLG p.Gly517Val VAR_058879 rs61752783
7 POLG p.Arg627Gln VAR_058883 rs375305567
8 POLG p.Arg807Cys VAR_058887 rs769827124

Expression for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Search GEO for disease gene expression data for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis.

Pathways for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Pathways related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 RRM2B POLG

GO Terms for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

Cellular components related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.56 TWNK POLG2 DGUOK DARS2
2 mitochondrion GO:0005739 9.4 TWNK SLC25A4 SACS RRM2B POLG2 POLG
3 mitochondrial nucleoid GO:0042645 9.33 TWNK POLG2 POLG
4 gamma DNA polymerase complex GO:0005760 8.96 POLG2 POLG

Biological processes related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.46 TWNK RRM2B POLG2 POLG
2 DNA-dependent DNA replication GO:0006261 9.26 POLG2 POLG
3 mitochondrial genome maintenance GO:0000002 9.13 TYMP SLC25A4 MPV17
4 mitochondrial DNA replication GO:0006264 8.92 TWNK RRM2B POLG2 POLG

Molecular functions related to Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 8.62 POLG2 POLG

Sources for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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