SCA19
MCID: SPN095
MIFTS: 32

Spinocerebellar Ataxia 19 (SCA19)

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 19

MalaCards integrated aliases for Spinocerebellar Ataxia 19:

Name: Spinocerebellar Ataxia 19 56 73 13 71
Spinocerebellar Ataxia 22 56 73 71
Sca19 56 73
Sca22 56 73
Spinocerebellar Ataxia Type 19/22 58
Spinocerebellar Ataxia 22; Sca22 56
Ataxia, Spinocerebellar, Type 19 39
Sca19/22 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 19/22
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range teens to late adult)


HPO:

31
spinocerebellar ataxia 19:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 607346
OMIM Phenotypic Series 56 PS164400
MeSH 43 D020754
MESH via Orphanet 44 C537198
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 72 C1846367
Orphanet 58 ORPHA98772
UMLS 71 C1846367 C2746067

Summaries for Spinocerebellar Ataxia 19

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 19: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis.

MalaCards based summary : Spinocerebellar Ataxia 19, also known as spinocerebellar ataxia 22, is related to lichtenstein-knorr syndrome and spinocerebellar ataxia, autosomal recessive 22, and has symptoms including gait ataxia, cerebellar ataxia and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia 19 is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are hyperreflexia and cogwheel rigidity

More information from OMIM: 607346 PS164400

Related Diseases for Spinocerebellar Ataxia 19

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 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 lichtenstein-knorr syndrome 11.6
2 spinocerebellar ataxia, autosomal recessive 22 11.5
3 spinocerebellar ataxia type 19/22 11.4
4 hereditary ataxia 10.3
5 machado-joseph disease 10.1
6 dentatorubral-pallidoluysian atrophy 10.1
7 chorea, childhood-onset, with psychomotor retardation 10.1
8 choreatic disease 10.1
9 dystonia 10.1
10 cerebellar degeneration 10.1
11 tremor 10.1
12 ataxia and polyneuropathy, adult-onset 10.1
13 autosomal dominant cerebellar ataxia 10.1
14 myoclonus 10.1

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



Diseases related to Spinocerebellar Ataxia 19

Symptoms & Phenotypes for Spinocerebellar Ataxia 19

Human phenotypes related to Spinocerebellar Ataxia 19:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001347
2 cogwheel rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002396
3 cognitive impairment 31 occasional (7.5%) HP:0100543
4 dysarthria 58 31 Occasional (29-5%) HP:0001260
5 hyporeflexia 58 31 Frequent (79-30%) HP:0001265
6 cerebellar atrophy 58 31 Frequent (79-30%) HP:0001272
7 limb ataxia 58 31 Frequent (79-30%) HP:0002070
8 truncal ataxia 58 31 Frequent (79-30%) HP:0002078
9 dysphagia 31 HP:0002015
10 ataxia 58 Very frequent (99-80%)
11 nystagmus 58 Occasional (29-5%)
12 myoclonus 31 HP:0001336
13 slurred speech 58 Occasional (29-5%)
14 ophthalmoplegia 58 Occasional (29-5%)
15 gait ataxia 31 HP:0002066
16 broad-based gait 58 Occasional (29-5%)
17 diplopia 58 Occasional (29-5%)
18 difficulty walking 58 Very frequent (99-80%)
19 urinary incontinence 58 Frequent (79-30%)
20 progressive cerebellar ataxia 31 HP:0002073
21 postural instability 58 Frequent (79-30%)
22 impaired smooth pursuit 58 Occasional (29-5%)
23 poor coordination 58 Occasional (29-5%)
24 postural tremor 31 HP:0002174
25 gaze-evoked horizontal nystagmus 31 HP:0007979
26 impaired vibration sensation at ankles 58 Frequent (79-30%)
27 intermittent microsaccadic pursuits 31 HP:0007944

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
gaze-evoked horizontal nystagmus
saccadic pursuits

Neurologic Central Nervous System:
dysarthria
hyporeflexia
gait ataxia
cerebellar atrophy
limb ataxia
more
Neurologic Peripheral Nervous System:
impaired vibration sense at the ankles (in some patients)

Clinical features from OMIM:

607346

UMLS symptoms related to Spinocerebellar Ataxia 19:


gait ataxia, cerebellar ataxia, ataxia, truncal

Drugs & Therapeutics for Spinocerebellar Ataxia 19

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 19

Genetic Tests for Spinocerebellar Ataxia 19

Anatomical Context for Spinocerebellar Ataxia 19

MalaCards organs/tissues related to Spinocerebellar Ataxia 19:

40
Eye, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 19

Articles related to Spinocerebellar Ataxia 19:

# Title Authors PMID Year
1
Mutations in KCND3 cause spinocerebellar ataxia type 22. 56 6
23280837 2012
2
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. 56 6
23280838 2012
3
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. 6 56
12764052 2003
4
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. 56 6
11284128 2001
5
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
6
SCA19 and SCA22: evidence for one locus with a worldwide distribution. 56
14679032 2004
7
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. 56
12384780 2002
8
Hereditary Ataxia Overview 6
20301317 1998
9
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. 61
29527639 2018
10
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. 61
28895081 2018

Variations for Spinocerebellar Ataxia 19

ClinVar genetic disease variations for Spinocerebellar Ataxia 19:

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

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 19:

73
# Symbol AA change Variation ID SNP ID
1 KCND3 p.Val338Glu VAR_070786
2 KCND3 p.Gly345Val VAR_070787 rs797045634
3 KCND3 p.Thr352Pro VAR_070788 rs397515476
4 KCND3 p.Thr377Met VAR_070790
5 KCND3 p.Gly384Ser VAR_079709

Expression for Spinocerebellar Ataxia 19

Search GEO for disease gene expression data for Spinocerebellar Ataxia 19.

Pathways for Spinocerebellar Ataxia 19

GO Terms for Spinocerebellar Ataxia 19

Sources for Spinocerebellar Ataxia 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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