Spinocerebellar Ataxia Type 19/22 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia Type 19/22

MalaCards integrated aliases for Spinocerebellar Ataxia Type 19/22:

Name: Spinocerebellar Ataxia Type 19/22 ¹² ¹⁵

Spinocerebellar Ataxia 19 and 22 ⁵³

Sca19/22 ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Mental diseases Ear diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050970

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Summaries for Spinocerebellar Ataxia Type 19/22

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98772Disease definitionSpinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.EpidemiologyPrevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date.Clinical descriptionSCA19 presents in the 3rd decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 (see this term) overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years.EtiologyLinkage to locus 1p21-q21 has been proposed but the genemutation has not been identified.PrognosisPrognosis is good. SCA19 does not impact life expectancy to any major extent, and some patients live to over 80 years of age.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia Type 19/22, also known as spinocerebellar ataxia 19 and 22, is related to autosomal dominant cerebellar ataxia and epilepsy. An important gene associated with Spinocerebellar Ataxia Type 19/22 is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include testes, and related phenotypes are Decreased shRNA abundance and Decreased shRNA abundance

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Related Diseases for Spinocerebellar Ataxia Type 19/22

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2	Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4	Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14	Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15	Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4	Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21	Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6	Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25	Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7	Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27	Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9	Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10	Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32	Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11	Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13	Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15	Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37	Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40	Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18	Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41	Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42	Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23	Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24	Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26	Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45	Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47	Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22	Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia Type 19/22 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant cerebellar ataxia	29.1	CACNA1A KCND3
2	epilepsy	10.0
3	episodic ataxia	9.3	CACNA1A KCND3
4	brugada syndrome	9.3	KCND3 KCNIP2
5	spinocerebellar ataxia 27	9.3	CACNA1A GRM1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia Type 19/22:

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Symptoms & Phenotypes for Spinocerebellar Ataxia Type 19/22

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance	GR00251-A-1	9.4	KCNIP2 CACNA1A KCND3
2	Decreased shRNA abundance	GR00251-A-2	9.4	KCNIP2 CACNA1A KCND3

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Drugs & Therapeutics for Spinocerebellar Ataxia Type 19/22

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia Type 19/22

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Genetic Tests for Spinocerebellar Ataxia Type 19/22

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Anatomical Context for Spinocerebellar Ataxia Type 19/22

MalaCards organs/tissues related to Spinocerebellar Ataxia Type 19/22:

⁴¹

Testes

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Publications for Spinocerebellar Ataxia Type 19/22

Articles related to Spinocerebellar Ataxia Type 19/22:

#	Title	Authors	Year
1	Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. ( 25854634 )	Duarri A....Verbeek D.S.	2015

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Genes for Spinocerebellar Ataxia Type 19/22

Genes related to Spinocerebellar Ataxia Type 19/22 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	24.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	15.64	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	15.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	KCNIP2	Potassium Voltage-Gated Channel Interacting Protein 2	Protein Coding	6.73	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia Type 19/22

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Expression for Spinocerebellar Ataxia Type 19/22

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type 19/22.

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Pathways for Spinocerebellar Ataxia Type 19/22

Pathways related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.19	CACNA1A GRM1 KCND3
2	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.72	CACNA1A KCND3
3	Calcium signaling pathway ³⁷ Show member pathways Oxytocin signaling ¹	11.59	CACNA1A GRM1
4	Taste transduction ³⁷ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶	11.35	CACNA1A GRM1
5	Long-term depression ³⁷	10.73	CACNA1A GRM1
6	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	10.37	KCND3 KCNIP2

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GO Terms for Spinocerebellar Ataxia Type 19/22

Cellular components related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated potassium channel complex	GO:0008076	8.96	KCND3 KCNIP2
2	dendrite	GO:0030425	8.8	CACNA1A GRM1 KCND3

Biological processes related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.61	CACNA1A KCND3 KCNIP2
2	chemical synaptic transmission	GO:0007268	9.54	CACNA1A GRM1 KCNIP2
3	potassium ion transport	GO:0006813	9.48	KCND3 KCNIP2
4	potassium ion transmembrane transport	GO:0071805	9.46	KCND3 KCNIP2
5	regulation of ion transmembrane transport	GO:0034765	9.43	CACNA1A KCND3 KCNIP2
6	cardiac conduction	GO:0061337	9.4	KCND3 KCNIP2
7	membrane repolarization	GO:0086009	9.32	KCND3 KCNIP2
8	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.16	KCND3 KCNIP2
9	potassium ion export	GO:0071435	8.96	KCND3 KCNIP2
10	potassium ion export across plasma membrane	GO:0097623	8.62	KCND3 KCNIP2

Molecular functions related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated ion channel activity	GO:0005244	9.32	CACNA1A KCND3
2	ion channel binding	GO:0044325	9.26	KCND3 KCNIP2
3	potassium channel activity	GO:0005267	9.16	KCND3 KCNIP2
4	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	8.96	KCND3 KCNIP2
5	A-type (transient outward) potassium channel activity	GO:0005250	8.62	KCND3 KCNIP2

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Sources for Spinocerebellar Ataxia Type 19/22

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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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

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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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