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MCID: SPN247
MIFTS: 36

Spinocerebellar Ataxia Type 19/22

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Spinocerebellar Ataxia Type 19/22

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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 Liver diseases Mental diseases Ear diseases
See all MalaCards categories (disease lists)


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Summaries for Spinocerebellar Ataxia Type 19/22

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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, skin and liver, and related phenotypes are nystagmus and diplopia

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Related Diseases for Spinocerebellar Ataxia Type 19/22

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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 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 30.1 CACNA1A KCND3
2 epilepsy 10.1
3 episodic ataxia 9.8 CACNA1A KCND3
4 brugada syndrome 9.8 KCND3 KCNIP2
5 spinocerebellar ataxia 27 9.8 CACNA1A GRM1
6 aceruloplasminemia 9.6 CACNA1A GRM1 KCND3

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



Diseases related to Spinocerebellar Ataxia Type 19/22
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Symptoms & Phenotypes for Spinocerebellar Ataxia Type 19/22

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Human phenotypes related to Spinocerebellar Ataxia Type 19/22:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 diplopia 32 occasional (7.5%) HP:0000651
3 dysarthria 32 occasional (7.5%) HP:0001260
4 hyperreflexia 32 frequent (33%) HP:0001347
5 slurred speech 32 occasional (7.5%) HP:0001350
6 limb ataxia 32 frequent (33%) HP:0002070
7 difficulty walking 32 hallmark (90%) HP:0002355
8 hyporeflexia 32 frequent (33%) HP:0001265
9 truncal ataxia 32 frequent (33%) HP:0002078
10 cerebellar atrophy 32 frequent (33%) HP:0001272
11 ophthalmoplegia 32 occasional (7.5%) HP:0000602
12 urinary incontinence 32 frequent (33%) HP:0000020
13 poor coordination 32 occasional (7.5%) HP:0002370
14 postural instability 32 frequent (33%) HP:0002172
15 impaired smooth pursuit 32 occasional (7.5%) HP:0007772
16 broad-based gait 32 occasional (7.5%) HP:0002136
17 cogwheel rigidity 32 occasional (7.5%) HP:0002396
18 impaired vibration sensation at ankles 32 frequent (33%) HP:0006938

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 CACNA1A KCND3 KCNIP2
2 Decreased shRNA abundance GR00251-A-2 9.4 CACNA1A KCND3 KCNIP2
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Drugs & Therapeutics for Spinocerebellar Ataxia Type 19/22

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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

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

41
Testes, Skin, Liver, Eye
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Publications for Spinocerebellar Ataxia Type 19/22

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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 )
2015
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Variations for Spinocerebellar Ataxia Type 19/22

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Expression for Spinocerebellar Ataxia Type 19/22

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

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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
 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
 11.59 CACNA1A GRM1
4
Taste transduction 37
Show member pathways
 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

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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 9.58 CACNA1A KCND3 KCNIP2
2 chemical synaptic transmission GO:0007268 9.54 CACNA1A GRM1 KCNIP2
3 potassium ion transport GO:0006813 9.46 KCND3 KCNIP2
4 potassium ion transmembrane transport GO:0071805 9.43 KCND3 KCNIP2
5 potassium ion export across plasma membrane GO:0097623 9.32 KCND3 KCNIP2
6 potassium ion export GO:0071435 9.26 KCND3 KCNIP2
7 membrane repolarization GO:0086009 9.16 KCND3 KCNIP2
8 membrane repolarization during cardiac muscle cell action potential GO:0086013 8.96 KCND3 KCNIP2
9 regulation of ion transmembrane transport GO:0034765 8.8 CACNA1A 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 ion channel binding GO:0044325 9.32 KCND3 KCNIP2
2 voltage-gated ion channel activity GO:0005244 9.26 CACNA1A KCND3
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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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