MCID: SPN247
MIFTS: 36

Spinocerebellar Ataxia Type 19/22

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 29 6 15
Spinocerebellar Ataxia 19 and 22 52
Sca19/22 52

Classifications:



Summaries for Spinocerebellar Ataxia Type 19/22

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98772 Definition Spinocerebellar 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. Epidemiology Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. Clinical description SCA19 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. Etiology Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified. Prognosis Prognosis 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 spinocerebellar ataxia 19, and has symptoms including gait ataxia, cerebellar ataxia and ataxia, truncal. 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 Cardiac conduction. 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.

Related Diseases for Spinocerebellar Ataxia Type 19/22

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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, Autosomal Recessive 28 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 autosomal dominant cerebellar ataxia 29.6 KCND3 GRM1 FGF14
2 spinocerebellar ataxia 19 11.6
3 ataxia and polyneuropathy, adult-onset 10.4
4 brugada syndrome 9 10.0 LAMA4 KCND3
5 cerebellar ataxia type 41 10.0 KCND3 GRM1
6 myasthenic syndrome, congenital, 5 9.9 KCNIP2 KCND3
7 short qt syndrome 9.8 KCNIP2 KCND3
8 episodic ataxia, type 1 9.8 KCND3 KCNC1
9 catecholaminergic polymorphic ventricular tachycardia 9.7 LAMA4 KCND3
10 cerebellar ataxia type 9 9.7 KCND3 FGF14
11 spinocerebellar ataxia 30 9.7 KCND3 FGF14
12 long qt syndrome 1 9.6 KCNIP2 KCND3
13 cerebellar disease 9.5 GRM1 FGF14
14 spinocerebellar ataxia 13 9.3 KCND3 KCNC1 FGF14
15 hereditary ataxia 9.3 KCND3 GRM1 FGF14
16 episodic ataxia 9.3 KCND3 KCNC1 FGF14
17 familial atrial fibrillation 9.2 LAMA4 KCNIP2 KCND3 KCNC1
18 brugada syndrome 9.2 LAMA4 KCNIP2 KCND3 KCNC1

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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 difficulty walking 31 hallmark (90%) HP:0002355
2 hyperreflexia 31 frequent (33%) HP:0001347
3 hyporeflexia 31 frequent (33%) HP:0001265
4 cerebellar atrophy 31 frequent (33%) HP:0001272
5 urinary incontinence 31 frequent (33%) HP:0000020
6 postural instability 31 frequent (33%) HP:0002172
7 limb ataxia 31 frequent (33%) HP:0002070
8 truncal ataxia 31 frequent (33%) HP:0002078
9 impaired vibration sensation at ankles 31 frequent (33%) HP:0006938
10 nystagmus 31 occasional (7.5%) HP:0000639
11 slurred speech 31 occasional (7.5%) HP:0001350
12 ophthalmoplegia 31 occasional (7.5%) HP:0000602
13 dysarthria 31 occasional (7.5%) HP:0001260
14 broad-based gait 31 occasional (7.5%) HP:0002136
15 diplopia 31 occasional (7.5%) HP:0000651
16 cogwheel rigidity 31 occasional (7.5%) HP:0002396
17 impaired smooth pursuit 31 occasional (7.5%) HP:0007772
18 poor coordination 31 occasional (7.5%) HP:0002370

UMLS symptoms related to Spinocerebellar Ataxia Type 19/22:


gait ataxia, cerebellar ataxia, ataxia, truncal

MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 19/22:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 FGF14 GRM1 KCNC1 LAMA4

Drugs & Therapeutics for Spinocerebellar Ataxia Type 19/22

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia Type 19/22

Genetic Tests for Spinocerebellar Ataxia Type 19/22

Genetic tests related to Spinocerebellar Ataxia Type 19/22:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 19/22 29 KCND3

Anatomical Context for Spinocerebellar Ataxia Type 19/22

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

40
Testes

Publications for Spinocerebellar Ataxia Type 19/22

Articles related to Spinocerebellar Ataxia Type 19/22:

# Title Authors PMID Year
1
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. 61
30776697 2019
2
Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia. 61
27502082 2016
3
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. 61
25854634 2015

Variations for Spinocerebellar Ataxia Type 19/22

ClinVar genetic disease variations for Spinocerebellar Ataxia Type 19/22:

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCND3 NM_004980.4(KCND3):c.1013T>A (p.Val338Glu)SNV Pathogenic 626317 1:112524336-112524336 1:111981714-111981714
2 KCND3 NM_004980.4(KCND3):c.950G>A (p.Cys317Tyr)SNV Pathogenic 626316 1:112524399-112524399 1:111981777-111981777
3 KCND3 NM_004980.4(KCND3):c.1130C>T (p.Thr377Met)SNV Pathogenic 626319 1:112329705-112329705 1:111787083-111787083
4 KCND3 NM_004980.4(KCND3):c.1123C>T (p.Pro375Ser)SNV Pathogenic 626318 1:112329712-112329712 1:111787090-111787090
5 KCND3 NM_172198.2(KCND3):c.677_679TCT[1] (p.Phe227del)short repeat Pathogenic 66061 rs397515475 1:112524667-112524669 1:111982045-111982047
6 KCND3 NM_004980.4(KCND3):c.1054A>C (p.Thr352Pro)SNV Pathogenic 66062 rs397515476 1:112524295-112524295 1:111981673-111981673
7 KCND3 NM_004980.4(KCND3):c.1034G>T (p.Gly345Val)SNV Pathogenic 211216 rs797045634 1:112524315-112524315 1:111981693-111981693
8 KCND3 NM_004980.4(KCND3):c.1153T>C (p.Ser385Pro)SNV Pathogenic 375399 rs1057519453 1:112329682-112329682 1:111787060-111787060
9 KCND3 NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg)SNV Pathogenic/Likely pathogenic 383943 rs1057521793 1:112329724-112329724 1:111787102-111787102
10 KCND3 NC_000001.11:g.111981657G>ASNV Likely pathogenic 827788 1:112524279-112524279 1:111981657-111981657
11 KCND3 NM_004980.4(KCND3):c.641A>G (p.Lys214Arg)SNV Conflicting interpretations of pathogenicity 222665 rs142744204 1:112524708-112524708 1:111982086-111982086
12 KCND3 NM_004980.4(KCND3):c.5C>A (p.Ala2Glu)SNV Conflicting interpretations of pathogenicity 372391 rs201340369 1:112525344-112525344 1:111982722-111982722
13 KCND3 NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe)SNV Conflicting interpretations of pathogenicity 192253 rs150401343 1:112323335-112323335 1:111780713-111780713
14 KCND3 NM_004980.4(KCND3):c.1174G>A (p.Val392Ile)SNV Conflicting interpretations of pathogenicity 192255 rs786205867 1:112329661-112329661 1:111787039-111787039
15 KCND3 NM_004980.4(KCND3):c.1456A>G (p.Thr486Ala)SNV Conflicting interpretations of pathogenicity 415286 rs149008060 1:112322852-112322852 1:111780230-111780230
16 KCND3 NM_004980.4(KCND3):c.1354G>A (p.Glu452Lys)SNV Conflicting interpretations of pathogenicity 447626 rs200532657 1:112323329-112323329 1:111780707-111780707
17 LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)SNV Conflicting interpretations of pathogenicity 488160 rs547323858 6:112454047-112454047 6:112132845-112132845
18 KCND3 NM_004980.4(KCND3):c.1313C>G (p.Ser438Trp)SNV Uncertain significance 465164 rs1172444288 1:112323370-112323370 1:111780748-111780748
19 KCND3 NM_004980.4(KCND3):c.1756C>G (p.Leu586Val)SNV Uncertain significance 519297 rs778053688 1:112319658-112319658 1:111777036-111777036
20 KCND3 NM_004980.4(KCND3):c.1924A>T (p.Ile642Phe)SNV Uncertain significance 533724 rs754759010 1:112318743-112318743 1:111776121-111776121
21 KCND3 NM_004980.4(KCND3):c.1518+4T>CSNV Uncertain significance 533726 rs1553235925 1:112321054-112321054 1:111778432-111778432
22 KCND3 NM_004980.4(KCND3):c.1336C>T (p.Arg446Cys)SNV Uncertain significance 533725 rs756087542 1:112323347-112323347 1:111780725-111780725
23 KCND3 NM_004980.4(KCND3):c.1703G>A (p.Arg568His)SNV Uncertain significance 533722 rs200212002 1:112319711-112319711 1:111777089-111777089
24 KCND3 NM_004980.4(KCND3):c.1601C>T (p.Pro534Leu)SNV Uncertain significance 465166 rs1553235768 1:112319813-112319813 1:111777191-111777191
25 KCND3 NM_004980.4(KCND3):c.1917C>A (p.Asn639Lys)SNV Uncertain significance 465168 rs777172603 1:112318750-112318750 1:111776128-111776128
26 KCND3 NM_004980.4(KCND3):c.89C>A (p.Ala30Asp)SNV Uncertain significance 465169 rs1307934269 1:112525260-112525260 1:111982638-111982638
27 KCND3 NM_004980.4(KCND3):c.1709T>C (p.Met570Thr)SNV Uncertain significance 465167 rs1553235743 1:112319705-112319705 1:111777083-111777083
28 KCND3 NM_004980.4(KCND3):c.1269+6C>TSNV Uncertain significance 408900 rs1060502174 1:112329560-112329560 1:111786938-111786938
29 KCND3 NM_004980.4(KCND3):c.1849A>G (p.Ile617Val)SNV Uncertain significance 533723 rs948125814 1:112318818-112318818 1:111776196-111776196
30 KCND3 NM_004980.4(KCND3):c.1934T>C (p.Ile645Thr)SNV Uncertain significance 579054 rs1557929628 1:112318733-112318733 1:111776111-111776111
31 KCND3 NM_004980.4(KCND3):c.1741A>T (p.Ser581Cys)SNV Uncertain significance 577665 rs1420542041 1:112319673-112319673 1:111777051-111777051
32 KCND3 NM_004980.4(KCND3):c.1496C>G (p.Ser499Cys)SNV Uncertain significance 570216 rs976664434 1:112321080-112321080 1:111778458-111778458
33 KCND3 NM_004980.4(KCND3):c.1879G>A (p.Gly627Arg)SNV Uncertain significance 647173 1:112318788-112318788 1:111776166-111776166
34 KCND3 NM_004980.4(KCND3):c.1784T>G (p.Leu595Trp)SNV Uncertain significance 655552 1:112318883-112318883 1:111776261-111776261
35 KCND3 NM_004980.4(KCND3):c.1339A>G (p.Asn447Asp)SNV Uncertain significance 663733 1:112323344-112323344 1:111780722-111780722
36 KCND3 NM_004980.4(KCND3):c.257G>A (p.Arg86Gln)SNV Uncertain significance 689484 1:112525092-112525092 1:111982470-111982470
37 KCND3 NM_004980.4(KCND3):c.1646G>A (p.Arg549His)SNV Uncertain significance 264530 rs35027371 1:112319768-112319768 1:111777146-111777146
38 KCND3 NC_000001.11:g.111778452C>TSNV Uncertain significance 837098 1:112321074-112321074 1:111778452-111778452
39 KCND3 NC_000001.11:g.111982279C>TSNV Uncertain significance 838739 1:112524901-112524901 1:111982279-111982279
40 KCND3 NM_004980.4(KCND3):c.519C>T (p.Phe173=)SNV Likely benign 697110 1:112524830-112524830 1:111982208-111982208
41 KCND3 NM_004980.4(KCND3):c.618G>A (p.Pro206=)SNV Likely benign 701177 1:112524731-112524731 1:111982109-111982109
42 KCND3 NM_004980.4(KCND3):c.9C>T (p.Ala3=)SNV Likely benign 701218 1:112525340-112525340 1:111982718-111982718
43 KCND3 NM_004980.4(KCND3):c.1372-6T>CSNV Likely benign 533727 rs765435324 1:112322942-112322942 1:111780320-111780320
44 KCND3 NM_004980.4(KCND3):c.117T>C (p.Asp39=)SNV Benign/Likely benign 415284 rs12720446 1:112525232-112525232 1:111982610-111982610
45 KCND3 NM_004980.4(KCND3):c.1959C>T (p.Ser653=)SNV Benign/Likely benign 508338 rs147087785 1:112318708-112318708 1:111776086-111776086
46 KCND3 NM_004980.4(KCND3):c.459G>A (p.Ser153=)SNV Benign/Likely benign 510042 rs755206508 1:112524890-112524890 1:111982268-111982268
47 KCND3 NM_004980.4(KCND3):c.1308C>G (p.Gly436=)SNV Benign/Likely benign 465163 rs190703406 1:112323375-112323375 1:111780753-111780753
48 KCND3 NM_004980.4(KCND3):c.207G>A (p.Thr69=)SNV Benign/Likely benign 586065 rs751347311 1:112525142-112525142 1:111982520-111982520
49 KCND3 NM_004980.4(KCND3):c.627G>C (p.Thr209=)SNV Benign/Likely benign 264148 rs149299911 1:112524722-112524722 1:111982100-111982100
50 KCND3 NM_004980.4(KCND3):c.633G>T (p.Pro211=)SNV Benign/Likely benign 240083 rs35131566 1:112524716-112524716 1:111982094-111982094

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

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 dendrite GO:0030425 9.13 KCND3 KCNC1 GRM1
2 voltage-gated potassium channel complex GO:0008076 8.8 KCNIP2 KCND3 KCNC1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.69 KCNIP2 KCND3 KCNC1
2 regulation of ion transmembrane transport GO:0034765 9.54 KCNIP2 KCND3 KCNC1
3 potassium ion transport GO:0006813 9.5 KCNIP2 KCND3 KCNC1
4 protein homooligomerization GO:0051260 9.49 KCND3 KCNC1
5 regulation of postsynaptic membrane potential GO:0060078 9.48 GRM1 FGF14
6 cardiac conduction GO:0061337 9.46 KCNIP2 KCND3
7 regulation of potassium ion transmembrane transport GO:1901379 9.43 KCNIP2 KCNC1
8 potassium ion transmembrane transport GO:0071805 9.43 KCNIP2 KCND3 KCNC1
9 potassium ion export across plasma membrane GO:0097623 9.4 KCNIP2 KCND3
10 membrane repolarization GO:0086009 9.16 KCNIP2 KCND3
11 positive regulation of voltage-gated potassium channel activity GO:1903818 8.96 KCNIP2 KCNC1
12 membrane repolarization during cardiac muscle cell action potential GO:0086013 8.62 KCNIP2 KCND3

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 9.5 KCNIP2 KCND3 KCNC1
2 ion channel binding GO:0044325 9.43 KCNIP2 KCND3 KCNC1
3 voltage-gated potassium channel activity GO:0005249 9.37 KCND3 KCNC1
4 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.16 KCNIP2 KCND3
5 potassium channel activity GO:0005267 9.13 KCNIP2 KCND3 KCNC1
6 A-type (transient outward) potassium channel activity GO:0005250 8.62 KCNIP2 KCND3

Sources for Spinocerebellar Ataxia Type 19/22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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35 IUPHAR
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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