Autosomal Dominant Cerebellar Ataxia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCA MCID: ATS308 MIFTS: 57	Autosomal Dominant Cerebellar Ataxia (SCA) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia ¹² ⁵³ ¹⁵

Spinocerebellar Ataxia ¹² ⁷⁶ ⁵³ ³⁷

Spinocerebellar Ataxias ⁵⁵ ⁴⁴

Ataxia, Spinocerebellar ⁴⁰ ⁷³

Adca ⁵³

Sca ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:1441

MeSH ⁴⁴ D020754

NCIt ⁵⁰ C82341

KEGG ³⁷ H00063

SNOMED-CT via HPO ⁶⁹ 19373007 46252003 563001 more

UMLS ⁷³ C0087012

Sources

Summaries for Autosomal Dominant Cerebellar Ataxia

NIH Rare Diseases : ⁵³ Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia. 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. The ataxia usually slowly worsens over time. While the age of onset can vary, the symptoms most commonly begin during adult years. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1). Mutations 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. While there is still no cure, treatment options for specific symptoms may be available, depending on the type and severity of symptoms. Management of ACDA may involve several specialists.

MalaCards based summary : Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 36 and spinocerebellar ataxia 7, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is ATXN8OS (ATXN8 Opposite Strand LncRNA), and among its related pathways/superpathways are Long-term depression and Ribosome biogenesis in eukaryotes. Affiliated tissues include brain, testes and eye, and related phenotypes are nystagmus and ataxia

Disease Ontology : ¹² A hereditary ataxia that has material basis in autosomal dominant inheritance.

Wikipedia : ⁷⁶ Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is... more...

Sources

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia	Syne1-Related Autosomal Recessive Cerebellar Ataxia
Congenital Cerebellar Ataxia Due to Rnu12 Mutation

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

(show top 50) (show all 254)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia 36	34.4	ATXN10 ATXN2 PPP2R2B
2	spinocerebellar ataxia 7	33.5	ATXN2 ATXN7 SCAANT1
3	olivopontocerebellar atrophy	33.1	ATXN2 ATXN7
4	spinocerebellar ataxia 2	32.7	ATXN2 ATXN3 ATXN7 CACNA1A
5	friedreich ataxia 1	32.6	ATXN1 ATXN2 ATXN3 ATXN8OS CACNA1A
6	cerebellar degeneration	32.6	ATXN2 CACNA1A
7	machado-joseph disease	32.6	ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
8	spinocerebellar ataxia 6	32.6	ATXN3 ATXN7 CACNA1A
9	spinocerebellar ataxia 1	32.5	ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
10	spinocerebellar ataxia 12	32.4	ATN1 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8OS
11	spinocerebellar ataxia 31	32.2	ATXN3 ATXN7 CACNA1A
12	spinocerebellar ataxia 27	32.2	CACNA1A FGF14
13	spinocerebellar ataxia 17	32.1	ATN1 ATXN3 ATXN7 CACNA1A TBP
14	spinocerebellar ataxia 28	32.0	AFG3L2 FGF14 KCNC3 PRKCG
15	spinocerebellar ataxia 18	31.9	ATXN3 ATXN7 CACNA1A SCA18
16	spinocerebellar ataxia 8	31.9	ATXN10 ATXN8OS PPP2R2B
17	dentatorubral-pallidoluysian atrophy	31.8	ATN1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B
18	aceruloplasminemia	31.6	AFG3L2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
19	huntington disease	30.5	ATN1 ATXN1 ATXN3 TBP
20	parkinson disease, late-onset	30.3	ATXN2 ATXN3 ATXN8OS TBP
21	cerebellar disease	30.2	ATXN10 ATXN3 ATXN7 CACNA1A PPP2R2B PRKCG
22	hereditary ataxia	29.8	AFG3L2 ATN1 ATXN1 ATXN10 ATXN2 ATXN3
23	spinocerebellar ataxia, autosomal recessive 7	12.6
24	spinocerebellar ataxia 37	12.6
25	spinocerebellar ataxia 38	12.6
26	spinocerebellar ataxia 35	12.6
27	spinocerebellar ataxia 19	12.6
28	spinocerebellar ataxia 4	12.6
29	spinocerebellar ataxia, autosomal recessive 16	12.6
30	spinocerebellar ataxia, autosomal recessive 1	12.6
31	spinocerebellar ataxia, autosomal recessive 20	12.6
32	spinocerebellar ataxia type 1 with axonal neuropathy	12.6
33	spinocerebellar ataxia 42	12.6
34	spinocerebellar ataxia, autosomal recessive 23	12.5
35	anemia, sideroblastic, and spinocerebellar ataxia	12.5
36	spinocerebellar ataxia, autosomal recessive 21	12.5
37	spinocerebellar ataxia, autosomal recessive 2	12.5
38	spinocerebellar ataxia, autosomal recessive 8	12.5
39	spinocerebellar ataxia, autosomal recessive 10	12.5
40	spinocerebellar ataxia, autosomal recessive 12	12.5
41	spinocerebellar ataxia, autosomal recessive 11	12.5
42	spinocerebellar ataxia, autosomal recessive 13	12.5
43	spinocerebellar ataxia, autosomal recessive 14	12.5
44	spinocerebellar ataxia, autosomal recessive 15	12.5
45	spinocerebellar ataxia 40	12.5
46	spinocerebellar ataxia, autosomal recessive 17	12.5
47	spinocerebellar ataxia, x-linked 1	12.4
48	spinocerebellar ataxia, autosomal recessive 18	12.4
49	spinocerebellar ataxia 44	12.4
50	spinocerebellar ataxia 46	12.4

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

Sources

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

³² (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³²	hallmark (90%)	HP:0000639
2	ataxia ³²	hallmark (90%)	HP:0001251
3	spasticity ³²	frequent (33%)	HP:0001257
4	dysarthria ³²	frequent (33%)	HP:0001260
5	gait disturbance ³²	hallmark (90%)	HP:0001288
6	behavioral abnormality ³²	frequent (33%)	HP:0000708
7	type ii diabetes mellitus ³²	occasional (7.5%)	HP:0005978
8	optic atrophy ³²	hallmark (90%)	HP:0000648
9	abnormality of retinal pigmentation ³²	hallmark (90%)	HP:0007703
10	emphysema ³²	frequent (33%)	HP:0002097
11	reduced tendon reflexes ³²	frequent (33%)	HP:0001315
12	vocal cord paralysis ³²	frequent (33%)	HP:0001605
13	impaired pain sensation ³²	frequent (33%)	HP:0007328
14	cerebellar atrophy ³²	hallmark (90%)	HP:0001272
15	external ophthalmoplegia ³²	occasional (7.5%)	HP:0000544
16	distal amyotrophy ³²	occasional (7.5%)	HP:0003693
17	tonic pupil ³²	hallmark (90%)	HP:0012074

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:

ataxia, cerebellar ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.7	AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7
2	nervous system	MP:0003631	9.36	AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7

Sources

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Biomarkers in Autosomal Dominant Cerebellar Ataxia	Completed	NCT01470729
2	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Cochrane evidence based reviews: spinocerebellar ataxias

Sources

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Sources

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

⁴¹

Brain, Testes, Eye, Cerebellum, Cortex, Kidney, Temporal Lobe

Sources

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 1640)

#	Title	Authors	Year
1	Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? ( 29421540 )	Huang M...Verbeek DS	2019
2	Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin. ( 30125433 )	de Mattos EP...Jardim LB	2019
3	Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. ( 30312605 )	Trzesniewski J...Kapfhammer JP	2019
4	Pharmacological enhancement of retinoid-related orphan receptor α function mitigates spinocerebellar ataxia type 3 pathology. ( 30343032 )	Watanave M...Hirai H	2019
5	SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. ( 29635513 )	Bryant D....Stanier P.	2018
6	Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. ( 29564144 )	Origone P....Mandich P.	2018
7	Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease. ( 29411683 )	Saito N....Nishizawa M.	2018
8	Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2. ( 29428949 )	Hamzeiy H....BaA9ak A.N.	2018
9	Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )	Higuchi Y....Takashima H.	2018
10	Spinocerebellar Ataxia-21 in a Turkish Child. ( 29720801 )	Incecik F....Mungan N.O.	2018
11	The Neuropathology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. ( 29427106 )	Koeppen A.H.	2018
12	Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )	Itaya S....Shintani S.	2018
13	Simulation Based Investigation of Deleterious nsSNPs in ATXN2 Gene and Its Structural Consequence Toward Spinocerebellar Ataxia. ( 28612427 )		2018
14	<i>CAPN1</i> mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype. ( 29678961 )		2018
15	Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. ( 29527639 )		2018
16	Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD). ( 29427111 )		2018
17	Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. ( 29416937 )		2018
18	Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis? ( 30008965 )	Catai LMP...Teive HAG	2018
19	Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. ( 29603387 )	Chelban V...Houlden H	2018
20	Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy. ( 29959858 )	Matos CA...N?brega C	2018
21	Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. ( 30337442 )	de Mattos EP...Jardim LB	2018
22	Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations. ( 30414314 )	Ramos A...Lima M	2018
23	Spinocerebellar ataxia type 2 presenting with rapidly progressing muscle weakness and muscular atrophy. ( 29461011 )	Morimoto S...Murayama S	2018
24	Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3. ( 30146593 )	Sugiyama A...Kuwabara S	2018
25	Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. ( 29209898 )	Galatolo D...Santorelli FM	2018
26	Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China. ( 29943235 )	Wang M...Ying B	2018
27	Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. ( 30017992 )	Miura S...Shibata H	2018
28	Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors. ( 30196130 )	Stezin A...Pal PK	2018
29	Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29. ( 30429331 )	Ando H...Mikoshiba K	2018
30	Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. ( 30532692 )	Nethisinghe S...Giunti P	2018
31	Levodopa-responsive truncal tremor in a patient with spinocerebellar ataxia type 3. ( 30097150 )	Miura M...Yokota T	2018
32	Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide. ( 30448718 )	Hara N...Maruyama H	2018
33	Spinocerebellar Ataxia Type 1: Molecular Mechanisms of Neurodegeneration and Preclinical Studies. ( 29427101 )	P?rez Ortiz JM...Orr HT	2018
34	ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. ( 29526553 )	Rousseaux MWC...Orr HT	2018
35	Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. ( 29533923 )	Edamakanti CR...Opal P	2018
36	Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B. ( 29656178 )	Buijsen RAM...van Roon-Mom WMC	2018
37	Dendritic potassium channel dysfunction may contribute to dendrite degeneration in spinocerebellar ataxia type 1. ( 29847609 )	Chopra R...Shakkottai VG	2018
38	PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1. ( 29860311 )	Bondar VV...Zoghbi HY	2018
39	Inhibition of NF-κB signaling in IKKβF/F;LysM Cre mice causes motor deficits but does not alter pathogenesis of Spinocerebellar ataxia type 1. ( 29975753 )	Ferro A...Cvetanovic M	2018
40	Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner. ( 30043530 )	Kim JH...Cvetanovic M	2018
41	Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1. ( 30113722 )	Ripolone M...Sciacco M	2018
42	Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1. ( 30507379 )	Driessen TM...Lim J	2018
43	Ophthalmic features of spinocerebellar ataxia type 7. ( 28799562 )	Campos-Romo A...Fernandez-Ruiz J	2018
44	Lethal form of spinocerebellar ataxia type 7 with early onset in childhood. ( 29248324 )	Gousse G...Perrin L	2018
45	Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. ( 29427104 )	Karam A...Trottier Y	2018
46	Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity. ( 29876803 )	Torres-Ramos Y...Maga?a JJ	2018
47	Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes. ( 30255962 )	Chirino A...Fernandez-Ruiz J	2018
48	Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. ( 30381411 )	Niu C...La Spada AR	2018
49	Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2. ( 29356974 )	Olivito G...Leggio M	2018
50	The progression rate of spinocerebellar ataxia type 2 changes with stage of disease. ( 29370806 )	Monte TL...Rede Neurogen?tica	2018

Sources

Genes for Autosomal Dominant Cerebellar Ataxia

Genes related to Autosomal Dominant Cerebellar Ataxia (5 elite genes):

(show all 45)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATXN8OS	ATXN8 Opposite Strand LncRNA	RNA Gene	178.2	Experimental evidence ³⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	27338628 18708037 16184604
2	SCAANT1	SCA7/ATXN7 Antisense RNA 1	RNA Gene	154.47	Experimental evidence ³⁹ DISEASES inferred ¹⁵	27338628
3	SCA18	Spinocerebellar Ataxia 18 (Sensory With Neurogenic Muscular Atrophy)	Genetic Locus	50	MalaCards inferred ⁴¹
4	SCA25	Spinocerebellar Ataxia 25	Genetic Locus	50	MalaCards inferred ⁴¹
5	SCA9	Spinocerebellar Ataxia 9	Genetic Locus	50	MalaCards inferred ⁴¹
6	SCA30	Spinocerebellar Ataxia 30	Genetic Locus	50	MalaCards inferred ⁴¹
7	SCA32	Spinocerebellar Ataxia 32	Genetic Locus	50	MalaCards inferred ⁴¹
8	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	47.42	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	16876337 16325861 19953482 (more) 10369884 10453742 8988170 15775664
9	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	46.39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	16138911 19417544 19953482
10	PRKCG	Protein Kinase C Gamma	Protein Coding	45.57	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	18577575 16763984 15313841 (more) 17562946 16828200 19561170 17343273 18986758 17024314 14676051 16291902 17822669 15618281
11	TBP	TATA-Box Binding Protein	Protein Coding	45	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	19581089 15521976 17149738 (more) 15365789 12891385 15989694 11563629 17934876 11448935 14756671 20004653 14967767 18651325 12758065 17474109
12	FGF14	Fibroblast Growth Factor 14	Protein Coding	44.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	16211615 18930825
13	ATXN3	Ataxin 3	Protein Coding	40.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15140190 7655453 15316156 (more) 16791428 11563629 11133357 10453742 17096206 9852144 10369884 17000876 20334689 8931575 17362987
14	ATXN7	Ataxin 7	Protein Coding	39.78	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18325672 19953482 10369884 (more) 10453742
15	ATXN1	Ataxin 1	Protein Coding	39.68	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7925830 10374379 9801928 (more) 19597981 15893665 10369884 10453742 17646162 8619528 9225982 12651867 15750336 16277991 16831871
16	ATXN2	Ataxin 2	Protein Coding	38.9	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9339681 10090679 11563629 (more) 9339711 9710044 10369884 10453742 19473475
17	ATXN10	Ataxin 10	Protein Coding	37.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	15201271 15505178 17846122 (more) 18386626 19198092 11017075 19936807 15970586 19651850
18	ATN1	Atrophin 1	Protein Coding	35.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10453742 15148151 18651325
19	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	34.52	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
20	KCNC3	Potassium Voltage-Gated Channel Subfamily C Member 3	Protein Coding	34.34	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
21	TTBK2	Tau Tubulin Kinase 2	Protein Coding	33.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
22	TDP1	Tyrosyl-DNA Phosphodiesterase 1	Protein Coding	27.8	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	16141202 16793421 17600775 (more) 20009512 15333697 15647511 18473723 16935573 15920477 15744309 17045754
23	PLEKHG4	Pleckstrin Homology And RhoGEF Domain Containing G4	Protein Coding	26.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	26.07	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
25	FXN	Frataxin	Protein Coding	25.65	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	9339708
26	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	25.27	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
27	PDYN	Prodynorphin	Protein Coding	14.45	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	13.9	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	TTPA	Alpha Tocopherol Transfer Protein	Protein Coding	13.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10082886 16491383
30	HTT	Huntingtin	Protein Coding	13.37	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	7774118
31	KCNA1	Potassium Voltage-Gated Channel Subfamily A Member 1	Protein Coding	12.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	7762567
32	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	12.46	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	19435586 20400524
33	FMR1	Fragile X Mental Retardation 1	Protein Coding	12.14	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	18363164 19235102
34	DNMT1	DNA Methyltransferase 1	Protein Coding	11.98	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
35	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	11.58	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
36	CHERP	Calcium Homeostasis Endoplasmic Reticulum Protein	Protein Coding	10.53	Novoseek inferred ⁵⁵	15198995 16791428 11511401 (more) 16831871
37	PRNP	Prion Protein	Protein Coding	9.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	11914409
38	SNCA	Synuclein Alpha	Protein Coding	8.6	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15262735 11296364 11511401
39	ENSG00000285258		Protein Coding	8.26	GeneCards inferred via : Publications (show sections)
40	GLO1	Glyoxalase I	Protein Coding	8.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	1675045
41	LOC108660406	Ataxin 7 Repeat Instability Region	Uncategorized	7.93	GeneCards inferred via : Publications (show sections)
42	ATXN8	Ataxin 8	Protein Coding	7.88	GeneCards inferred via : Disorders (show sections)
43	LOC108663993	Ataxin 1 Repeat Instability Region	Uncategorized	7.82	GeneCards inferred via : Publications (show sections)
44	LOC108663996	TATA-Box Binding Protein Repeat Instability Region	Uncategorized	7.47	GeneCards inferred via : Publications (show sections)
45	PLA2G1B	Phospholipase A2 Group IB	Protein Coding	7.13	GeneCards inferred via : Publications (show sections)

Sources

Variations for Autosomal Dominant Cerebellar Ataxia

Sources

Expression for Autosomal Dominant Cerebellar Ataxia

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

Sources

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Long-term depression	hsa04730
2	Ribosome biogenesis in eukaryotes	hsa03008

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

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	12.37	ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 FGF14
2	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	11.96	ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.81	CACNA1A KCNC3 PPP2R2B PRKCG

Sources

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	8.96	ATXN1 ATXN3
2	nuclear matrix	GO:0016363	8.92	ATN1 ATXN1 ATXN3 ATXN7

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

#	Name	GO ID	Score	Top Affiliating Genes
1	response to pain	GO:0048265	8.62	CACNA1A PRKCG

Sources

Sources for Autosomal Dominant Cerebellar Ataxia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Autosomal Dominant Cerebellar Ataxia (SCA)

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia:

Classifications:

External Ids:

Summaries for Autosomal Dominant Cerebellar Ataxia

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

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

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

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

Interventional clinical trials:

Cochrane evidence based reviews: spinocerebellar ataxias

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

Genes for Autosomal Dominant Cerebellar Ataxia

Genes related to Autosomal Dominant Cerebellar Ataxia (5 elite genes):

Variations for Autosomal Dominant Cerebellar Ataxia

Expression for Autosomal Dominant Cerebellar Ataxia

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to KEGG:

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

GO Terms for Autosomal Dominant Cerebellar Ataxia

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

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

Sources for Autosomal Dominant Cerebellar Ataxia