MCID: SPN247
MIFTS: 34

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

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:



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 ataxia and polyneuropathy, adult-onset and autosomal dominant cerebellar ataxia. 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, skin and liver, 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.

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 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, Autosomal Recessive 27
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 18)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.3
2 autosomal dominant cerebellar ataxia 10.3
3 epilepsy 10.2
4 spinocerebellar ataxia 27 9.8 CACNA1A GRM1
5 sporadic hemiplegic migraine 9.8 CACNA1A SCN1A
6 hemiplegic migraine 9.8 CACNA1A SCN1A
7 familial or sporadic hemiplegic migraine 9.8 CACNA1A SCN1A
8 familial hemiplegic migraine 9.8 CACNA1A SCN1A
9 migraine without aura 9.7 CACNA1A SCN1A
10 migraine with aura 9.7 CACNA1A SCN1A
11 hemiplegia 9.7 CACNA1A SCN1A
12 brugada syndrome 9.7 KCND3 KCNIP2
13 headache 9.7 CACNA1A SCN1A
14 epilepsy, idiopathic generalized 9.7 CACNA1A SCN1A
15 migraine with or without aura 1 9.7 CACNA1A SCN1A
16 alacrima, achalasia, and mental retardation syndrome 9.6 CACNA1A SCN1A
17 aceruloplasminemia 9.6 CACNA1A GRM1 KCND3
18 nervous system disease 9.6 CACNA1A SCN1A

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



Diseases related to Spinocerebellar Ataxia Type 19/22

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

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

Genetic Tests for Spinocerebellar Ataxia Type 19/22

Anatomical Context for Spinocerebellar Ataxia Type 19/22

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

42
Testes, Skin, Liver, Eye

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 )
2015

Variations for Spinocerebellar Ataxia Type 19/22

Expression for Spinocerebellar Ataxia Type 19/22

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

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
Show member pathways
12.45 CACNA1A GRM1 SCN1A
2
Show member pathways
12.37 CACNA1A GRM1 SCN1A
3
Show member pathways
12.29 CACNA1A GRM1 KCND3
4
Show member pathways
12.06 KCND3 KCNIP2 SCN1A
5
Show member pathways
11.72 CACNA1A GRM1
6
Show member pathways
11.46 CACNA1A GRM1
7 10.73 CACNA1A GRM1
8 10.37 KCND3 KCNIP2

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

Sources for Spinocerebellar Ataxia Type 19/22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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