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 ⁵⁴

Sca19/22 ⁵⁴

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

SNOMED-CT via HPO ⁷⁰ 16110005 165232002 228158008 more

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Summaries for Spinocerebellar Ataxia Type 19/22

NIH Rare Diseases : ⁵⁴ 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 Circadian entrainment and G-Beta Gamma Signaling. Affiliated tissues include testes, and related phenotypes are difficulty walking and hyperreflexia

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.

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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 48
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:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant cerebellar ataxia	10.3
2	epilepsy	10.2
3	spinocerebellar ataxia 27	9.8	CACNA1A GRM1
4	sporadic hemiplegic migraine	9.8	CACNA1A SCN1A
5	hemiplegic migraine	9.8	CACNA1A SCN1A
6	familial or sporadic hemiplegic migraine	9.8	CACNA1A SCN1A
7	familial hemiplegic migraine	9.8	CACNA1A SCN1A
8	migraine without aura	9.7	CACNA1A SCN1A
9	migraine with aura	9.7	CACNA1A SCN1A
10	hemiplegia	9.7	CACNA1A SCN1A
11	brugada syndrome	9.7	KCND3 KCNIP2
12	headache	9.7	CACNA1A SCN1A
13	epilepsy, idiopathic generalized	9.7	CACNA1A SCN1A
14	migraine with or without aura 1	9.7	CACNA1A SCN1A
15	alacrima, achalasia, and mental retardation syndrome	9.6	CACNA1A SCN1A
16	aceruloplasminemia	9.6	CACNA1A GRM1 KCND3
17	nervous system disease	9.6	CACNA1A SCN1A

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

Human phenotypes related to Spinocerebellar Ataxia Type 19/22:

³³ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	difficulty walking ³³	hallmark (90%)	HP:0002355
2	hyperreflexia ³³	frequent (33%)	HP:0001347
3	limb ataxia ³³	frequent (33%)	HP:0002070
4	hyporeflexia ³³	frequent (33%)	HP:0001265
5	truncal ataxia ³³	frequent (33%)	HP:0002078
6	cerebellar atrophy ³³	frequent (33%)	HP:0001272
7	urinary incontinence ³³	frequent (33%)	HP:0000020
8	postural instability ³³	frequent (33%)	HP:0002172
9	impaired vibration sensation at ankles ³³	frequent (33%)	HP:0006938
10	nystagmus ³³	occasional (7.5%)	HP:0000639
11	diplopia ³³	occasional (7.5%)	HP:0000651
12	dysarthria ³³	occasional (7.5%)	HP:0001260
13	slurred speech ³³	occasional (7.5%)	HP:0001350
14	ophthalmoplegia ³³	occasional (7.5%)	HP:0000602
15	poor coordination ³³	occasional (7.5%)	HP:0002370
16	broad-based gait ³³	occasional (7.5%)	HP:0002136
17	impaired smooth pursuit ³³	occasional (7.5%)	HP:0007772
18	cogwheel rigidity ³³	occasional (7.5%)	HP:0002396

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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:

⁴²

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	24.93	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	15.41	DISEASES inferred ¹⁵
3	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	14.96	DISEASES inferred ¹⁵
4	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	14.86	DISEASES inferred ¹⁵
5	KCNIP2	Potassium Voltage-Gated Channel Interacting Protein 2	Protein Coding	6.53	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	Circadian entrainment ³⁸ Show member pathways Cholinergic synapse ³⁸ Dopaminergic synapse ³⁸ Estrogen signaling pathway ³⁸ Glutamatergic synapse ³⁸ Relaxin receptors ⁶⁷ Relaxin signaling pathway ³⁸ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁶	12.45	CACNA1A GRM1 SCN1A
2	G-Beta Gamma Signaling ⁶⁵ Show member pathways CRHR Pathway ⁶⁵ Gap junction ³⁸ GHRH Signaling ⁶⁵ Hedgehog Signaling in Mammals ⁶⁵ Relaxin Pathway ⁶⁵ Signaling in Gap Junctions ⁶⁵	12.42	CACNA1A GRM1 SCN1A
3	Transmission across Chemical Synapses ⁶⁷ Show member pathways Neuronal System ⁶⁷ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁷	12.29	CACNA1A GRM1 KCND3
4	Cardiac conduction ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	12.06	KCND3 KCNIP2 SCN1A
5	Calcium signaling pathway ³⁸	11.71	CACNA1A GRM1
6	Taste transduction ³⁸ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁷	11.46	CACNA1A GRM1
7	Long-term depression ³⁸	10.73	CACNA1A GRM1
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶²	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	plasma membrane	GO:0005886	9.65	CACNA1A GRM1 KCND3 KCNIP2 SCN1A
2	voltage-gated potassium channel complex	GO:0008076	9.16	KCND3 KCNIP2
3	dendrite	GO:0030425	9.13	CACNA1A GRM1 KCND3
4	neuronal cell body	GO:0043025	8.8	CACNA1A KCND3 SCN1A

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.61	CACNA1A KCND3 SCN1A
2	ion transport	GO:0006811	9.56	CACNA1A KCND3 KCNIP2 SCN1A
3	chemical synaptic transmission	GO:0007268	9.54	CACNA1A GRM1 KCNIP2
4	potassium ion transport	GO:0006813	9.49	KCND3 KCNIP2
5	potassium ion transmembrane transport	GO:0071805	9.48	KCND3 KCNIP2
6	regulation of membrane potential	GO:0042391	9.46	CACNA1A SCN1A
7	adult walking behavior	GO:0007628	9.4	CACNA1A SCN1A
8	potassium ion export across plasma membrane	GO:0097623	9.32	KCND3 KCNIP2
9	membrane repolarization	GO:0086009	9.16	KCND3 KCNIP2
10	membrane repolarization during cardiac muscle cell action potential	GO:0086013	8.96	KCND3 KCNIP2
11	regulation of ion transmembrane transport	GO:0034765	8.92	CACNA1A KCND3 KCNIP2 SCN1A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel activity	GO:0005216	9.37	CACNA1A SCN1A
2	voltage-gated ion channel activity	GO:0005244	9.33	CACNA1A KCND3 SCN1A
3	ion channel binding	GO:0044325	9.32	KCND3 KCNIP2
4	potassium channel activity	GO:0005267	9.26	KCND3 KCNIP2
5	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	8.96	KCND3 KCNIP2
6	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

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⁴ Cell Signaling Technology

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¹⁰ dbSNP

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²⁰ FMA

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia