SCA19
MCID: SPN095
MIFTS: 35

Spinocerebellar Ataxia 19 (SCA19)

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 19

MalaCards integrated aliases for Spinocerebellar Ataxia 19:

Name: Spinocerebellar Ataxia 19 57 74 29 13 6 72
Spinocerebellar Ataxia 22 57 74 72
Sca19 57 74
Sca22 57 74
Spinocerebellar Ataxia Type 19/22 59
Spinocerebellar Ataxia 22; Sca22 57
Ataxia, Spinocerebellar, Type 19 40
Sca19/22 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 19/22
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 19:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D020754
MESH via Orphanet 45 C537198
ICD10 via Orphanet 34 G11.2
UMLS via Orphanet 73 C1846367
Orphanet 59 ORPHA98772
UMLS 72 C1846367 C2746067

Summaries for Spinocerebellar Ataxia 19

UniProtKB/Swiss-Prot : 74 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 type 19/22, 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, spinal cord and cerebellum, 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 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 Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 lichtenstein-knorr syndrome 11.4
2 spinocerebellar ataxia type 19/22 11.4
3 spinocerebellar ataxia 10 10.2
4 aceruloplasminemia 10.2
5 hereditary ataxia 10.2
6 spinocerebellar ataxia 11 10.1
7 spinocerebellar ataxia 13 10.1
8 spinocerebellar ataxia 14 10.1
9 machado-joseph disease 10.1
10 dentatorubral-pallidoluysian atrophy 10.1
11 spinocerebellar ataxia 12 10.1
12 spinocerebellar ataxia 17 10.1
13 spinocerebellar ataxia 8 10.1
14 chorea, childhood-onset, with psychomotor retardation 10.1
15 choreatic disease 10.1
16 dystonia 10.1
17 cerebellar degeneration 10.1
18 tremor 10.1
19 ataxia and polyneuropathy, adult-onset 10.1
20 autosomal dominant cerebellar ataxia 10.1
21 myoclonus 10.1
22 familial atrial fibrillation 9.2 LOC107986633 LAMA4
23 brugada syndrome 9 8.8 LOC107986633 LAMA4 KCND3

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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001347
2 cogwheel rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002396
3 cognitive impairment 32 occasional (7.5%) HP:0100543
4 dysarthria 59 32 Occasional (29-5%) HP:0001260
5 limb ataxia 59 32 Frequent (79-30%) HP:0002070
6 hyporeflexia 59 32 Frequent (79-30%) HP:0001265
7 truncal ataxia 59 32 Frequent (79-30%) HP:0002078
8 cerebellar atrophy 59 32 Frequent (79-30%) HP:0001272
9 nystagmus 59 Occasional (29-5%)
10 diplopia 59 Occasional (29-5%)
11 ataxia 59 Very frequent (99-80%)
12 dysphagia 32 HP:0002015
13 myoclonus 32 HP:0001336
14 slurred speech 59 Occasional (29-5%)
15 gait ataxia 32 HP:0002066
16 ophthalmoplegia 59 Occasional (29-5%)
17 difficulty walking 59 Very frequent (99-80%)
18 progressive cerebellar ataxia 32 HP:0002073
19 postural tremor 32 HP:0002174
20 urinary incontinence 59 Frequent (79-30%)
21 poor coordination 59 Occasional (29-5%)
22 postural instability 59 Frequent (79-30%)
23 gaze-evoked horizontal nystagmus 32 HP:0007979
24 broad-based gait 59 Occasional (29-5%)
25 impaired smooth pursuit 59 Occasional (29-5%)
26 impaired vibration sensation at ankles 59 Frequent (79-30%)
27 intermittent microsaccadic pursuits 32 HP:0007944

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
gait ataxia
limb ataxia
hyporeflexia
truncal ataxia
more
Head And Neck Eyes:
gaze-evoked horizontal nystagmus
saccadic pursuits

Abdomen Gastrointestinal:
dysphagia

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

Genetic tests related to Spinocerebellar Ataxia 19:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 19 29 KCND3

Anatomical Context for Spinocerebellar Ataxia 19

MalaCards organs/tissues related to Spinocerebellar Ataxia 19:

41
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 19

Articles related to Spinocerebellar Ataxia 19:

# Title Authors PMID Year
1
Mutations in KCND3 cause spinocerebellar ataxia type 22. 8 71
23280837 2012
2
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. 8 71
23280838 2012
3
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. 8 71
12764052 2003
4
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. 8 71
11284128 2001
5
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 71
20050888 2010
6
SCA19 and SCA22: evidence for one locus with a worldwide distribution. 8
14679032 2004
7
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. 8
12384780 2002
8
Hereditary Ataxia Overview 71
20301317 1998
9
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. 38
29527639 2018
10
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. 38
28895081 2018

Variations for Spinocerebellar Ataxia 19

ClinVar genetic disease variations for Spinocerebellar Ataxia 19:

6 (show all 45)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCND3 NM_004980.4(KCND3): c.1153T> C (p.Ser385Pro) single nucleotide variant Pathogenic rs1057519453 1:112329682-112329682 1:111787060-111787060
2 KCND3 NM_004980.4(KCND3): c.677_679TCT[1] (p.Phe227del) short repeat Pathogenic rs397515475 1:112524667-112524669 1:111982045-111982047
3 KCND3 NM_004980.4(KCND3): c.1054A> C (p.Thr352Pro) single nucleotide variant Pathogenic rs397515476 1:112524295-112524295 1:111981673-111981673
4 KCND3 NM_004980.4(KCND3): c.1034G> T (p.Gly345Val) single nucleotide variant Pathogenic rs797045634 1:112524315-112524315 1:111981693-111981693
5 KCND3 NM_004980.4(KCND3): c.1111G> A (p.Gly371Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057521793 1:112329724-112329724 1:111787102-111787102
6 KCND3 NM_004980.4(KCND3): c.1456A> G (p.Thr486Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs149008060 1:112322852-112322852 1:111780230-111780230
7 KCND3 NM_004980.4(KCND3): c.5C> A (p.Ala2Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs201340369 1:112525344-112525344 1:111982722-111982722
8 KCND3 NM_004980.4(KCND3): c.1354G> A (p.Glu452Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200532657 1:112323329-112323329 1:111780707-111780707
9 KCND3 NM_004980.4(KCND3): c.641A> G (p.Lys214Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142744204 1:112524708-112524708 1:111982086-111982086
10 KCND3 NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150401343 1:112323335-112323335 1:111780713-111780713
11 KCND3 NM_004980.4(KCND3): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs786205867 1:112329661-112329661 1:111787039-111787039
12 KCND3 NM_004980.4(KCND3): c.1849A> G (p.Ile617Val) single nucleotide variant Uncertain significance rs948125814 1:112318818-112318818 1:111776196-111776196
13 KCND3 NM_004980.4(KCND3): c.89C> A (p.Ala30Asp) single nucleotide variant Uncertain significance rs1307934269 1:112525260-112525260 1:111982638-111982638
14 KCND3 NM_004980.4(KCND3): c.1709T> C (p.Met570Thr) single nucleotide variant Uncertain significance rs1553235743 1:112319705-112319705 1:111777083-111777083
15 KCND3 NM_004980.4(KCND3): c.1313C> G (p.Ser438Trp) single nucleotide variant Uncertain significance rs1172444288 1:112323370-112323370 1:111780748-111780748
16 LAMA4 NM_002290.5(LAMA4): c.3721A> G (p.Ile1241Val) single nucleotide variant Uncertain significance rs547323858 6:112454047-112454047 6:112132845-112132845
17 KCND3 NM_004980.4(KCND3): c.1756C> G (p.Leu586Val) single nucleotide variant Uncertain significance rs778053688 1:112319658-112319658 1:111777036-111777036
18 KCND3 NM_004980.4(KCND3): c.1924A> T (p.Ile642Phe) single nucleotide variant Uncertain significance rs754759010 1:112318743-112318743 1:111776121-111776121
19 KCND3 NM_004980.4(KCND3): c.1518+4T> C single nucleotide variant Uncertain significance rs1553235925 1:112321054-112321054 1:111778432-111778432
20 KCND3 NM_004980.4(KCND3): c.1336C> T (p.Arg446Cys) single nucleotide variant Uncertain significance rs756087542 1:112323347-112323347 1:111780725-111780725
21 KCND3 NM_004980.4(KCND3): c.1703G> A (p.Arg568His) single nucleotide variant Uncertain significance rs200212002 1:112319711-112319711 1:111777089-111777089
22 KCND3 NM_004980.4(KCND3): c.1601C> T (p.Pro534Leu) single nucleotide variant Uncertain significance rs1553235768 1:112319813-112319813 1:111777191-111777191
23 KCND3 NM_004980.4(KCND3): c.1917C> A (p.Asn639Lys) single nucleotide variant Uncertain significance rs777172603 1:112318750-112318750 1:111776128-111776128
24 KCND3 NM_004980.4(KCND3): c.1269+6C> T single nucleotide variant Uncertain significance rs1060502174 1:112329560-112329560 1:111786938-111786938
25 KCND3 NM_004980.4(KCND3): c.1934T> C (p.Ile645Thr) single nucleotide variant Uncertain significance 1:112318733-112318733 1:111776111-111776111
26 KCND3 NM_004980.4(KCND3): c.1741A> T (p.Ser581Cys) single nucleotide variant Uncertain significance 1:112319673-112319673 1:111777051-111777051
27 KCND3 NM_004980.4(KCND3): c.1496C> G (p.Ser499Cys) single nucleotide variant Uncertain significance 1:112321080-112321080 1:111778458-111778458
28 KCND3 NM_004980.4(KCND3): c.1879G> A (p.Gly627Arg) single nucleotide variant Uncertain significance 1:112318788-112318788 1:111776166-111776166
29 KCND3 NM_004980.4(KCND3): c.1784T> G (p.Leu595Trp) single nucleotide variant Uncertain significance 1:112318883-112318883 1:111776261-111776261
30 KCND3 NM_004980.4(KCND3): c.1339A> G (p.Asn447Asp) single nucleotide variant Uncertain significance 1:112323344-112323344 1:111780722-111780722
31 KCND3 NM_004980.4(KCND3): c.1646G> A (p.Arg549His) single nucleotide variant Uncertain significance rs35027371 1:112319768-112319768 1:111777146-111777146
32 KCND3 NM_004980.4(KCND3): c.1519-5C> T single nucleotide variant Likely benign rs376408039 1:112319900-112319900 1:111777278-111777278
33 KCND3 NM_004980.4(KCND3): c.1372-6T> C single nucleotide variant Likely benign rs765435324 1:112322942-112322942 1:111780320-111780320
34 KCND3 NM_004980.4(KCND3): c.1959C> T (p.Ser653=) single nucleotide variant Likely benign rs147087785 1:112318708-112318708 1:111776086-111776086
35 KCND3 NM_004980.4(KCND3): c.1308C> G (p.Gly436=) single nucleotide variant Benign/Likely benign rs190703406 1:112323375-112323375 1:111780753-111780753
36 KCND3 NM_004980.4(KCND3): c.633G> T (p.Pro211=) single nucleotide variant Benign/Likely benign rs35131566 1:112524716-112524716 1:111982094-111982094
37 KCND3 NM_004980.4(KCND3): c.117T> C (p.Asp39=) single nucleotide variant Benign/Likely benign rs12720446 1:112525232-112525232 1:111982610-111982610
38 KCND3 NM_004980.4(KCND3): c.1062C> A (p.Ile354=) single nucleotide variant Benign/Likely benign rs150934088 1:112524287-112524287 1:111981665-111981665
39 KCND3 NM_004980.4(KCND3): c.627G> C (p.Thr209=) single nucleotide variant Benign/Likely benign rs149299911 1:112524722-112524722 1:111982100-111982100
40 KCND3 NM_004980.4(KCND3): c.957C> G (p.Ser319=) single nucleotide variant Benign rs61733426 1:112524392-112524392 1:111981770-111981770
41 KCND3 NM_004980.4(KCND3): c.1519-4G> T single nucleotide variant Benign rs72548732 1:112319899-112319899 1:111777277-111777277
42 KCND3 NM_004980.4(KCND3): c.375G> A (p.Pro125=) single nucleotide variant Benign rs2289723 1:112524974-112524974 1:111982352-111982352
43 KCND3 NM_004980.4(KCND3): c.1323C> T (p.Tyr441=) single nucleotide variant Benign rs17215458 1:112323360-112323360 1:111780738-111780738
44 KCND3 NM_004980.4(KCND3): c.870G> T (p.Arg290=) single nucleotide variant Benign rs200894990 1:112524479-112524479 1:111981857-111981857
45 KCND3 NM_004980.4(KCND3): c.669G> C (p.Ser223=) single nucleotide variant Benign rs17215423 1:112524680-112524680 1:111982058-111982058

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

74
# 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
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10 dbSNP
11 DGIdb
17 EFO
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34 ICD10 via Orphanet
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