SCA
MCID: ATS308
MIFTS: 64

Autosomal Dominant Cerebellar Ataxia (SCA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 11 19 58 5 14 75
Spinocerebellar Ataxia 11 19 75 5 33
Pierre Marie Cerebellar Ataxia 19 75
Ataxia, Spinocerebellar 38 71
Adca 19 58
Autosomal Dominant Spinocerebellar Ataxia 58
Spinocerebellar Ataxias 53
Sca 19

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-9/100000 (Worldwide, Netherlands, Portugal, Europe) 1-9/1000000 (Italy) 1-5/10000 (Japan) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Autosomal Dominant Cerebellar Ataxia

GARD: 19 Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected. The area of the brain controlling balance and movement decreases in size (cerebellar atrophy). This can be seen on brain imaging. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1). Genetic changes or changes in many different genes are known to cause many of the different types of ADCA, but more genes are still being discovered. Inheritance is autosomal dominant . Diagnosis of ADCA is based on clinical history, physical examination, genetic testing, and ruling out other diseases.

MalaCards based summary: Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia, autosomal recessive 4, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Akt Signaling and MAPK signaling pathway. The drugs Nootropic Agents and TA 0910 have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, cortex and brain, and related phenotypes are progressive cerebellar ataxia and abnormal pyramidal sign

Orphanet: 58 A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.

Disease Ontology: 11 A cerebellar ataxia that has material basis in autosomal dominant inheritance.

Wikipedia 75 Autosomal dominant cerebellar ataxia: Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an... more...

Pierre marie cerebellar ataxia: Pierre Marie (9 September 1853 - 13 April 1940) was a French neurologist and political journalist close... more...

Spinocerebellar ataxia: Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each... more...

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47 Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43 Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9 Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

Diseases related to Autosomal Dominant Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 717)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 7 33.6 SCAANT1 ATXN8OS ATXN7 ATXN3 ATXN2 ATXN1
2 spinocerebellar ataxia, autosomal recessive 4 33.5 PPP2R2B KCNC3 CACNA1A ATXN7
3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 33.5 CACNA1A ATXN7 ATXN1
4 spinocerebellar ataxia, autosomal recessive 8 33.4 PPP2R2B POLG CACNA1A ATXN7
5 spinocerebellar ataxia, autosomal recessive 17 33.4 PRKCG KIF26B KCNC3 CACNA1A AFG3L2
6 spinocerebellar ataxia 13 33.3 TTBK2 PRKCG KCNC3 FGF14
7 spinocerebellar ataxia, x-linked 1 33.3 TTBK2 KCNC3 FGF14 AFG3L2
8 spinocerebellar ataxia, autosomal recessive 14 33.2 CACNA1A AFG3L2
9 spinocerebellar ataxia 17 33.2 TBP PPP2R2B FGF14 CACNA1A ATXN8OS ATXN7
10 spinocerebellar ataxia 12 33.2 TBP PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3
11 spinocerebellar ataxia 6 33.2 TBP PRKCG PPP2R2B KCNC3 CACNA1A ATXN8OS
12 spinocerebellar ataxia 1 33.1 TBP PRKCG PPP2R2B KCNC3 CACNA1A ATXN7
13 machado-joseph disease 33.1 TBP PRKCG PPP2R2B POLG LRRK2 KCNC3
14 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 33.1 POLG ATXN10 AFG3L2
15 spinocerebellar ataxia 10 33.1 PPP2R2B ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
16 spinocerebellar ataxia 14 33.1 PRKCG CACNA1A ATXN7 ATXN2 ATXN1
17 dentatorubral-pallidoluysian atrophy 33.1 TTBK2 TBP PRKCG PPP2R2B KCNC3 FGF14
18 spinocerebellar ataxia 8 33.1 SCAANT1 PPP2R2B CACNA1A ATXN8OS ATXN7 ATXN3
19 spinocerebellar ataxia 40 33.0 TTBK2 TBP PPP2R2B KCNC3 FGF14 CACNA1A
20 spinocerebellar ataxia 2 33.0 CACNA1A ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
21 friedreich ataxia 33.0 TBP PRKCG PPP2R2B POLG KCNC3 CACNA1A
22 spinocerebellar ataxia 15 33.0 PRKCG KCNC3 ATXN2 AFG3L2
23 spinocerebellar ataxia 31 33.0 CACNA1A ATXN8OS ATXN10
24 spinocerebellar ataxia 18 32.9 SCA18 CACNA1A ATXN1 AFG3L2
25 spinocerebellar ataxia 4 32.9 ATXN7 ATXN2 ATXN1
26 spinocerebellar ataxia 27 32.9 FGF14 CACNA1A
27 spinocerebellar ataxia type 19/22 32.8 KCNC3 FGF14
28 spinocerebellar ataxia 30 32.8 TTBK2 SCA30
29 spinocerebellar ataxia 36 32.8 PPP2R2B ATXN8OS ATXN2 ATXN10
30 spinocerebellar ataxia 35 32.8 TTBK2 ATXN10 AFG3L2
31 spinocerebellar ataxia 21 32.7 ATXN10 AFG3L2
32 cerebellar ataxia type 48 32.7 TBP PRKCG CACNA1A ATXN7 ATXN3 ATXN1
33 spinocerebellar ataxia 37 32.6 ATXN8OS ATXN10
34 cerebellar ataxia type 43 32.6 TTBK2 PRKCG KCNC3 FGF14 AFG3L2
35 cerebellar ataxia type 42 32.5 PRKCG ATXN7
36 cerebellar ataxia type 41 32.5 TTBK2 KCNC3
37 cerebellar ataxia type 47 32.4 KCNC3 ATXN1
38 hereditary ataxia 32.4 TTBK2 TBP PRKCG PPP2R2B POLG KCNC3
39 aceruloplasminemia 32.2 PRKCG CACNA1A AFG3L2
40 mitochondrial complex iii deficiency, nuclear type 2 32.0 POLG ATXN7
41 amyotrophic lateral sclerosis 1 31.9 TBP LRRK2 CACNA1A ATXN7 ATXN3 ATXN2
42 cerebellar disease 31.6 TTBK2 TBP PRKCG PPP2R2B POLG LRRK2
43 restless legs syndrome 31.5 TBP CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
44 kearns-sayre syndrome 31.5 POLG CACNA1A ATXN7 AFG3L2
45 spinal and bulbar muscular atrophy, x-linked 1 31.4 TBP PPP2R2B KCNC3 CACNA1A ATXN7 ATXN3
46 spastic ataxia 31.4 TTBK2 PRKCG PPP2R2B POLG KCNC3 FGF14
47 olivopontocerebellar atrophy 31.4 TBP PPP2R2B CACNA1A ATXN7 ATXN2 ATXN10
48 dystonia 31.3 PRKCG POLG LRRK2 CACNA1A ATXN7 ATXN3
49 primary cerebellar degeneration 31.3 CACNA1A ATXN3 ATXN2 ATXN1
50 3-methylglutaconic aciduria, type iii 31.2 POLG LRRK2 ATXN7 AFG3L2

Graphical network of the top 20 diseases related to Autosomal Dominant Cerebellar Ataxia:



Diseases related to Autosomal Dominant Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

58 30 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002073
2 abnormal pyramidal sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0007256
3 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
4 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
5 hyporeflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001265
6 polyneuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001271
7 hyperactive deep tendon reflexes 58 30 Frequent (33%) Frequent (79-30%)
HP:0006801
8 paraparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002385
9 hand tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002378
10 sensory axonal neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003390
11 cns demyelination 58 30 Frequent (33%) Frequent (79-30%)
HP:0007305
12 long-tract signs 58 30 Frequent (33%) Frequent (79-30%)
HP:0002423
13 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
14 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
15 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
16 behavioral abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000708
17 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
18 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
19 hyperkeratosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000962
20 areflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001284
21 proptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000520
22 intellectual disability, moderate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002342
23 dysgraphia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010526
24 pes cavus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001761
25 erythema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010783
26 ophthalmoparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000597
27 impaired vibratory sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002495
28 rigidity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002063
29 choreoathetosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001266
30 horizontal supranuclear gaze palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007817
31 macular degeneration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000608
32 dementia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000726
33 pigmentary retinopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000580
34 visual loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000572
35 akinesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002304
36 parkinsonism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001300
37 pseudobulbar paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007024
38 sensorimotor neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007141
39 resting tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002322
40 slow saccadic eye movements 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000514
41 postural tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002174
42 tongue fasciculations 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001308
43 tongue atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012473
44 orofacial dyskinesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002310
45 laryngeal dystonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012049
46 distal peripheral sensory neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007067
47 hypermetric saccades 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007338
48 dense calcifications in the cerebellar dentate nucleus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002461
49 palatal tremor 30 Occasional (7.5%) HP:0010530
50 focal seizure with eyelid myoclonia 30 Occasional (7.5%) HP:0011168

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


ataxia; cerebellar ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 AFG3L2 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 muscle MP:0005369 9.5 AFG3L2 ATXN1 ATXN7 CACNA1A FGF14 KCNC3
3 behavior/neurological MP:0005386 9.44 AFG3L2 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

Drugs for Autosomal Dominant Cerebellar Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Nootropic Agents Phase 4
2 TA 0910 Phase 4
3
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
4
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
5
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
6 Neurotransmitter Agents Phase 3
7 Neuroprotective Agents Phase 3
8 Excitatory Amino Acid Antagonists Phase 3
9 Anticonvulsants Phase 3
10 Protective Agents Phase 3
11 Psychotropic Drugs Phase 2, Phase 3
12 Antidepressive Agents Phase 2, Phase 3
13 Hormones Phase 3
14 Thyrotropin-Releasing Hormone Phase 3
15
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
16
Menthol Approved, Experimental Phase 2 1490-04-6, 2216-51-5, 15356-60-2 1254 16666 165675
17 Nicotinic Agonists Phase 2
18 Cholinergic Agents Phase 2
19 Immunoglobulins, Intravenous Phase 2
20 Immunoglobulins Phase 2
21 Antibodies Phase 2
22 gamma-Globulins Phase 2
23 Rho(D) Immune Globulin Phase 2
24 Immunologic Factors Phase 2
25
Ubidecarenone Approved, Investigational, Nutraceutical Phase 1 303-98-0 5281915
26 Pharmaceutical Solutions Phase 1
27 Vitamins Phase 1
28 Trace Elements Phase 1
29 Ubiquinone Phase 1
30 Micronutrients Phase 1
31
Dopamine Approved 62-31-7, 51-61-6 681
32
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
33
Tannic acid Approved 1401-55-4 16129878 16129778
34
Dalfampridine Approved 504-24-5 1727
35
Triamcinolone Approved, Vet_approved 124-94-7 31307
36 Dopamine agonists
37 Omega 3 Fatty Acid
38 Potassium Channel Blockers
39
Triamcinolone hexacetonide
40
Triamcinolone diacetate
41
Triamcinolone Acetonide 6436

Interventional clinical trials:

(show top 50) (show all 84)
# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Unknown status NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
2 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
3 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Completed NCT03347344 Phase 3 Riluzole;Placebo
4 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
5 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
6 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
7 A Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
8 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
9 An Additional Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
10 A Double-blind, Randomized, Placebo Controlled, Trial to Assess Safety and Efficacy of SLS-005 (Trehalose Injection, 90.5 mg/mL for Intravenous Infusion) for the Treatment of Adults With Spinocerebellar Ataxia Recruiting NCT05490563 Phase 2, Phase 3 SLS-005;Placebo
11 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
12 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo
13 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
14 The Influence of Deep Repetitive Transcranial Magnetic Stimulation (TMS) on Cerebellar Signs in Patients With Spinocerebellar Ataxia Type 3 (SCA3 - Machado Joseph Disease) Completed NCT02039206 Phase 2
15 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Completed NCT02540655 Phase 2
16 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
17 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
18 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
19 A Single-Center, Randomized, Double-Blind, Parallel-Group, Dose-Controlled Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2 Cabaletta for IV infusion once weekly during 24 weeks
20 An Open-label, Phase II Study of KPS-0373 in Patients With SCD Completed NCT00863538 Phase 2 KPS-0373
21 A Double-blind, Placebo-controlled, Crossover Study, Followed by Open-label Study of KPS-0373 in Patients With SCD Completed NCT01004016 Phase 2 KPS-0373;Placebo
22 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
23 Chinese Medicine WT for Elevating IGF-1 of Patients With Spinocerebellar Ataxia Type 3 - Pilot Study Recruiting NCT05038306 Phase 2 Chinese medicine WT
24 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
25 Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1) Withdrawn NCT04301284 Phase 2 CAD-1883;Placebos
26 Phenylbutyrate in SCA3: a Double-blind, Placebo-controlled Study to Determine Safety and Efficacy of Sodium Phenylbutyrate in Patients With SCA3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
27 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
28 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
29 Safety and Tolerability of Coenzyme Q10 in Adult-Onset Sporadic Spinocerebellar Ataxia Completed NCT00957216 Phase 1 Placebo (sugar pill);Coenzyme Q10
30 A Phase 1, Blinded, Randomized, Placebo-controlled Study to Investigate the Safety, Tolerability, and Pharmacokinetics of Multiple Ascending Doses of BIIB132 Administered Intrathecally to Adults With Spinocerebellar Ataxia 3 Recruiting NCT05160558 Phase 1 BIIB132;BIIB132-Matching Placebo
31 Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (SCA3/MJD) Unknown status NCT04229823
32 Biomarkers and Genetic Modifiers in a Study of Pre-ataxic and Ataxic SCA3/MJD Carriers (BIGPRO Study) - Astrocytes Unknown status NCT04419974
33 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
34 Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation Unknown status NCT02175290
35 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
36 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
37 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
38 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
39 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
40 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
41 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
42 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
43 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
44 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Completed NCT01037777
45 A Prospective, Randomized, Controlled Trial for the Efficacy of Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia Type 3 Completed NCT05502432
46 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631
47 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
48 Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA) Completed NCT00654251
49 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
50 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

Organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

MalaCards : Cerebellum, Cortex, Brain, Retina, Skeletal Muscle, Tongue, Eye

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 5440)
# Title Authors PMID Year
1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
2
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 5
24091540 2013
3
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 5
21880868 2011
4
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 5
20176107 2010
5
A variable neurodegenerative phenotype with polymerase gamma mutation. 5
19762913 2009
6
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 5
19364868 2009
7
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 5
18546365 2008
8
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. 5
18412265 2008
9
LRRK2 Parkinson Disease 5
20301387 2006
10
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. 53 62
20400524 2010
11
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. 53 62
19936807 2010
12
SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications. 53 62
20004653 2010
13
High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. 53 62
20334689 2010
14
TDP1 serine 81 promotes interaction with DNA ligase IIIalpha and facilitates cell survival following DNA damage. 53 62
20009512 2010
15
[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]. 53 62
19953482 2009
16
Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene. 53 62
19651850 2009
17
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. 53 62
19561170 2009
18
Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia. 53 62
19581089 2009
19
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. 53 62
19435586 2009
20
Hypergonadotropic hypogonadism in spinocerebellar ataxia type 2: a case report. 53 62
19473475 2009
21
Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients. 53 62
19597981 2009
22
Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. 53 62
19417544 2009
23
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. 53 62
18986758 2009
24
FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons. 53 62
18930825 2009
25
Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. 53 62
19235102 2008
26
[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)]. 53 62
19198092 2008
27
SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology. 53 62
18708037 2008
28
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. 53 62
18577575 2008
29
Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. 53 62
18651325 2008
30
Tyrosyl-DNA phosphodiesterase as a target for anticancer therapy. 53 62
18473723 2008
31
Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia. 53 62
18325672 2008
32
[Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)]. 53 62
18386626 2008
33
Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia. 53 62
18363164 2008
34
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. 53 62
18037885 2007
35
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. 53 62
17934876 2007
36
Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells. 53 62
17846122 2007
37
The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxias. 53 62
18047739 2007
38
Protection from ataxia-linked apoptosis by gap junction inhibitors. 53 62
17822669 2007
39
The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2. 53 62
17646162 2007
40
TDP1 facilitates repair of ionizing radiation-induced DNA single-strand breaks. 53 62
17600775 2007
41
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. 53 62
17562946 2007
42
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. 53 62
17474109 2007
43
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. 53 62
17343273 2007
44
DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. 53 62
17045754 2007
45
Mechanisms of ataxin-3 misfolding and fibril formation: kinetic analysis of a disease-associated polyglutamine protein. 53 62
17362987 2007
46
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. 53 62
17149738 2007
47
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. 53 62
16935573 2006
48
Structure validation of the Josephin domain of ataxin-3: conclusive evidence for an open conformation. 53 62
17096206 2006
49
Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3. 53 62
17000876 2006
50
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. 53 62
16763984 2006

Variations for Autosomal Dominant Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Dominant Cerebellar Ataxia:

5 (show top 50) (show all 528)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF26B NM_018012.4(KIF26B):c.5710G>A (p.Asp1904Asn) SNV Pathogenic
446270 rs749953234 GRCh37: 1:245851995-245851995
GRCh38: 1:245688693-245688693
2 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) SNV Pathogenic
39198 rs33949390 GRCh37: 12:40713845-40713845
GRCh38: 12:40320043-40320043
3 POLG NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) SNV Pathogenic
206537 rs201477273 GRCh37: 15:89864088-89864088
GRCh38: 15:89320857-89320857
4 DYNC1H1 NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) SNV Uncertain Significance
574494 rs912429154 GRCh37: 14:102481620-102481620
GRCh38: 14:102015283-102015283
5 ITPR1 NM_002222.6(ITPR1):c.*1481delG DEL Uncertain Significance
345926 rs886058656 GRCh37: 3:4889390-4889390
GRCh38: 3:4847706-4847706
6 DYNC1H1 NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr) SNV Uncertain Significance
880799 rs775444653 GRCh37: 14:102505497-102505497
GRCh38: 14:102039160-102039160
7 DYNC1H1 NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) SNV Uncertain Significance
539755 rs201575292 GRCh37: 14:102514304-102514304
GRCh38: 14:102047967-102047967
8 DYNC1H1 NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=) SNV Uncertain Significance
881313 rs1184080545 GRCh37: 14:102446116-102446116
GRCh38: 14:101979779-101979779
9 DYNC1H1 NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) SNV Uncertain Significance
512339 rs142961295 GRCh37: 14:102453921-102453921
GRCh38: 14:101987584-101987584
10 PDYN-AS1, PDYN NM_024411.4(PDYN):c.-358G>A SNV Uncertain Significance
337845 rs745377265 GRCh37: 20:1974835-1974835
GRCh38: 20:1994189-1994189
11 ITPR1 NM_002222.6(ITPR1):c.*1531G>A SNV Uncertain Significance
345928 rs9817206 GRCh37: 3:4889440-4889440
GRCh38: 3:4847756-4847756
12 PDYN-AS1, PDYN NM_024411.4(PDYN):c.-402C>G SNV Uncertain Significance
337848 rs775379753 GRCh37: 20:1974879-1974879
GRCh38: 20:1994233-1994233
13 DYNC1H1 NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) SNV Uncertain Significance
239001 rs151001016 GRCh37: 14:102474668-102474668
GRCh38: 14:102008331-102008331
14 DYNC1H1 NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) SNV Uncertain Significance
696864 rs202004938 GRCh37: 14:102476232-102476232
GRCh38: 14:102009895-102009895
15 DYNC1H1 NM_001376.4(DYNC1H1):c.-122C>T SNV Uncertain Significance
881715 rs566619022 GRCh37: 14:102430907-102430907
GRCh38: 14:101964570-101964570
16 DYNC1H1 NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) SNV Uncertain Significance
585807 rs200375220 GRCh37: 14:102509025-102509025
GRCh38: 14:102042688-102042688
17 DYNC1H1 NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) SNV Uncertain Significance
882555 rs1376784009 GRCh37: 14:102516217-102516217
GRCh38: 14:102049880-102049880
18 DYNC1H1 NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) SNV Uncertain Significance
863131 rs774806132 GRCh37: 14:102494062-102494062
GRCh38: 14:102027725-102027725
19 DYNC1H1 NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) SNV Uncertain Significance
510280 rs35143882 GRCh37: 14:102502904-102502904
GRCh38: 14:102036567-102036567
20 DYNC1H1 NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) SNV Uncertain Significance
389365 rs200903643 GRCh37: 14:102502967-102502967
GRCh38: 14:102036630-102036630
21 DYNC1H1 NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) SNV Uncertain Significance
883657 rs2273439 GRCh37: 14:102445701-102445701
GRCh38: 14:101979364-101979364
22 DYNC1H1 NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) SNV Uncertain Significance
734937 rs144921184 GRCh37: 14:102452890-102452890
GRCh38: 14:101986553-101986553
23 DYNC1H1 NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=) SNV Uncertain Significance
883710 rs149028205 GRCh37: 14:102452914-102452914
GRCh38: 14:101986577-101986577
24 DYNC1H1 NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) SNV Uncertain Significance
516911 rs35092963 GRCh37: 14:102452938-102452938
GRCh38: 14:101986601-101986601
25 DYNC1H1 NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=) SNV Uncertain Significance
883819 rs2048183675 GRCh37: 14:102471567-102471567
GRCh38: 14:102005230-102005230
26 DYNC1H1 NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val) SNV Uncertain Significance
833984 rs150118849 GRCh37: 14:102506942-102506942
GRCh38: 14:102040605-102040605
27 ITPR1 NM_002222.6(ITPR1):c.*1311G>A SNV Uncertain Significance
901146 rs772889585 GRCh37: 3:4889220-4889220
GRCh38: 3:4847536-4847536
28 ITPR1 NM_002222.6(ITPR1):c.*1366C>T SNV Uncertain Significance
901148 rs146958900 GRCh37: 3:4889275-4889275
GRCh38: 3:4847591-4847591
29 ITPR1 NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) SNV Uncertain Significance
902787 rs35343277 GRCh37: 3:4825568-4825568
GRCh38: 3:4783884-4783884
30 ITPR1 NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) SNV Uncertain Significance
345895 rs201934670 GRCh37: 3:4887880-4887880
GRCh38: 3:4846196-4846196
31 SPTBN2 NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) SNV Uncertain Significance
305526 rs145891813 GRCh37: 11:66454564-66454564
GRCh38: 11:66687093-66687093
32 ITPR1 NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) SNV Uncertain Significance
447603 rs369681244 GRCh37: 3:4687346-4687346
GRCh38: 3:4645662-4645662
33 ITPR1 NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) SNV Uncertain Significance
447593 rs371661663 GRCh37: 3:4808360-4808360
GRCh38: 3:4766676-4766676
34 DYNC1H1 NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=) SNV Uncertain Significance
880921 rs961375016 GRCh37: 14:102514984-102514984
GRCh38: 14:102048647-102048647
35 DYNC1H1 NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=) SNV Uncertain Significance
882967 rs755543897 GRCh37: 14:102460538-102460538
GRCh38: 14:101994201-101994201
36 DYNC1H1 NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) SNV Uncertain Significance
882014 rs375687099 GRCh37: 14:102482381-102482381
GRCh38: 14:102016044-102016044
37 DYNC1H1 NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=) SNV Uncertain Significance
883113 rs200885538 GRCh37: 14:102481504-102481504
GRCh38: 14:102015167-102015167
38 DYNC1H1 NM_001376.5(DYNC1H1):c.8177+12C>T SNV Uncertain Significance
880669 rs367551573 GRCh37: 14:102483853-102483853
GRCh38: 14:102017516-102017516
39 DYNC1H1 NM_001376.5(DYNC1H1):c.11056-10A>G SNV Uncertain Significance
761757 rs751676054 GRCh37: 14:102505025-102505025
GRCh38: 14:102038688-102038688
40 DYNC1H1 NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=) SNV Uncertain Significance
882441 rs777166781 GRCh37: 14:102506967-102506967
GRCh38: 14:102040630-102040630
41 SPTBN2 NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=) SNV Uncertain Significance
305571 rs758091474 GRCh37: 11:66469186-66469186
GRCh38: 11:66701715-66701715
42 SPTBN2 NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) SNV Uncertain Significance
305534 rs371535973 GRCh37: 11:66455092-66455092
GRCh38: 11:66687621-66687621
43 DYNC1H1 NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) SNV Uncertain Significance
881314 rs17540728 GRCh37: 14:102449480-102449480
GRCh38: 14:101983143-101983143
44 DYNC1H1 NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=) SNV Uncertain Significance
881763 rs567247522 GRCh37: 14:102449552-102449552
GRCh38: 14:101983215-101983215
45 DYNC1H1 NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) SNV Uncertain Significance
701851 rs767564445 GRCh37: 14:102449781-102449781
GRCh38: 14:101983444-101983444
46 DYNC1H1 NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) SNV Uncertain Significance
389700 rs761916499 GRCh37: 14:102452122-102452122
GRCh38: 14:101985785-101985785
47 DYNC1H1 NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) SNV Uncertain Significance
668173 rs773425996 GRCh37: 14:102470930-102470930
GRCh38: 14:102004593-102004593
48 DYNC1H1 NM_001376.5(DYNC1H1):c.5049+15G>A SNV Uncertain Significance
881867 rs975753572 GRCh37: 14:102471035-102471035
GRCh38: 14:102004698-102004698
49 DYNC1H1 NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) SNV Uncertain Significance
312618 rs527943422 GRCh37: 14:102445677-102445677
GRCh38: 14:101979340-101979340
50 SPTBN2 NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=) SNV Uncertain Significance
305574 rs766115824 GRCh37: 11:66472302-66472302
GRCh38: 11:66704831-66704831

Expression for Autosomal Dominant Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Dominant Cerebellar Ataxia.

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 PRKCG PPP2R2B FGF14 ATXN7 ATXN3 ATXN2
2 11.85 PRKCG LRRK2 FGF14 CACNA1A
3 11.61 PRKCG PPP2R2B KCNC3 CACNA1A
4 10.58 PRKCG CACNA1A

GO Terms for Autosomal Dominant Cerebellar Ataxia

Cellular components related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inclusion body GO:0042405 9.26 ATXN3 ATXN1
2 presynaptic cytosol GO:0099523 8.92 PRKCG LRRK2

Sources for Autosomal Dominant Cerebellar Ataxia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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