SCA19
MCID: SPN095
MIFTS: 33

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 57 72 13 6 70
Spinocerebellar Ataxia 22 57 72 70
Sca19 57 72
Sca22 57 72
Spinocerebellar Ataxia Type 19/22 58
Spinocerebellar Ataxia 22; Sca22 57
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®:

57 (Updated 05-Apr-2021)
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® 57 607346
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
MESH via Orphanet 45 C537198
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C1846367
Orphanet 58 ORPHA98772
UMLS 70 C1846367 C2746067

Summaries for Spinocerebellar Ataxia 19

UniProtKB/Swiss-Prot : 72 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, 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 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, 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 16)
# Related Disease Score Top Affiliating Genes
1 lichtenstein-knorr syndrome 11.4
2 spinocerebellar ataxia type 19/22 11.3
3 spinocerebellar ataxia, autosomal recessive 22 11.2
4 hereditary ataxia 10.0
5 ataxia and polyneuropathy, adult-onset 10.0
6 parkinsonism 10.0
7 autosomal dominant cerebellar ataxia 10.0
8 myoclonus 10.0
9 machado-joseph disease 9.9
10 dentatorubral-pallidoluysian atrophy 9.9
11 chorea, childhood-onset, with psychomotor retardation 9.9
12 choreatic disease 9.9
13 epilepsy 9.9
14 dystonia 9.9
15 cerebellar degeneration 9.9
16 tremor 9.9

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 nystagmus 58 Occasional (29-5%)
10 diplopia 58 Occasional (29-5%)
11 ataxia 58 Very frequent (99-80%)
12 dysphagia 31 HP:0002015
13 myoclonus 31 HP:0001336
14 slurred speech 58 Occasional (29-5%)
15 ophthalmoplegia 58 Occasional (29-5%)
16 gait ataxia 31 HP:0002066
17 broad-based gait 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 poor coordination 58 Occasional (29-5%)
23 postural tremor 31 HP:0002174
24 impaired smooth pursuit 58 Occasional (29-5%)
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®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
hyporeflexia
gait ataxia
cerebellar atrophy
limb 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 (Updated 05-Apr-2021)

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 potassium channel kcnd3 cause spinocerebellar ataxia type 19. 57 6
23280838 2012
2
Mutations in KCND3 cause spinocerebellar ataxia type 22. 6 57
23280837 2012
3
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. 6 57
12764052 2003
4
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. 6 57
11284128 2001
5
SCA19 and SCA22: evidence for one locus with a worldwide distribution. 57
14679032 2004
6
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. 57
12384780 2002
7
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. 61
29527639 2018
8
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 75)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCND3 NM_004980.4(KCND3):c.1054A>C (p.Thr352Pro) SNV Pathogenic 66062 rs397515476 GRCh37: 1:112524295-112524295
GRCh38: 1:111981673-111981673
2 KCND3 NM_004980.4(KCND3):c.1034G>T (p.Gly345Val) SNV Pathogenic 211216 rs797045634 GRCh37: 1:112524315-112524315
GRCh38: 1:111981693-111981693
3 KCND3 NM_004980.4(KCND3):c.1153T>C (p.Ser385Pro) SNV Pathogenic 375399 rs1057519453 GRCh37: 1:112329682-112329682
GRCh38: 1:111787060-111787060
4 KCND3 NM_004980.4(KCND3):c.950G>A (p.Cys317Tyr) SNV Pathogenic 626316 rs1571939905 GRCh37: 1:112524399-112524399
GRCh38: 1:111981777-111981777
5 KCND3 NM_004980.4(KCND3):c.1013T>A (p.Val338Glu) SNV Pathogenic 626317 rs1571939827 GRCh37: 1:112524336-112524336
GRCh38: 1:111981714-111981714
6 KCND3 NM_004980.4(KCND3):c.1123C>T (p.Pro375Ser) SNV Pathogenic 626318 rs1571636508 GRCh37: 1:112329712-112329712
GRCh38: 1:111787090-111787090
7 KCND3 NM_004980.4(KCND3):c.1130C>T (p.Thr377Met) SNV Pathogenic 626319 rs1571636501 GRCh37: 1:112329705-112329705
GRCh38: 1:111787083-111787083
8 KCND3 NM_172198.2(KCND3):c.677_679TCT[1] (p.Phe227del) Microsatellite Pathogenic 66061 rs397515475 GRCh37: 1:112524667-112524669
GRCh38: 1:111982045-111982047
9 KCND3 NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) SNV Likely pathogenic 976123 GRCh37: 1:112524480-112524480
GRCh38: 1:111981858-111981858
10 KCND3 NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) SNV Likely pathogenic 827788 rs867628133 GRCh37: 1:112524279-112524279
GRCh38: 1:111981657-111981657
11 KCND3 NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg) SNV Likely pathogenic 383943 rs1057521793 GRCh37: 1:112329724-112329724
GRCh38: 1:111787102-111787102
12 KCND3 NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln) SNV Uncertain significance 837098 GRCh37: 1:112321074-112321074
GRCh38: 1:111778452-111778452
13 KCND3 NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) SNV Uncertain significance 192255 rs786205867 GRCh37: 1:112329661-112329661
GRCh38: 1:111787039-111787039
14 KCND3 NM_004980.4(KCND3):c.1269+6C>T SNV Uncertain significance 408900 rs1060502174 GRCh37: 1:112329560-112329560
GRCh38: 1:111786938-111786938
15 KCND3 NM_004980.4(KCND3):c.1601C>T (p.Pro534Leu) SNV Uncertain significance 465166 rs1553235768 GRCh37: 1:112319813-112319813
GRCh38: 1:111777191-111777191
16 KCND3 NM_004980.4(KCND3):c.1703G>A (p.Arg568His) SNV Uncertain significance 533722 rs200212002 GRCh37: 1:112319711-112319711
GRCh38: 1:111777089-111777089
17 KCND3 NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn) SNV Uncertain significance 838739 GRCh37: 1:112524901-112524901
GRCh38: 1:111982279-111982279
18 KCND3 NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) SNV Uncertain significance 934670 GRCh37: 1:112318778-112318778
GRCh38: 1:111776156-111776156
19 KCND3 NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) SNV Uncertain significance 961544 GRCh37: 1:112525003-112525003
GRCh38: 1:111982381-111982381
20 KCND3 NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) SNV Uncertain significance 192253 rs150401343 GRCh37: 1:112323335-112323335
GRCh38: 1:111780713-111780713
21 KCND3 NM_004980.4(KCND3):c.446A>G (p.Asp149Gly) SNV Uncertain significance 447628 rs1217571134 GRCh37: 1:112524903-112524903
GRCh38: 1:111982281-111982281
22 KCND3 NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp) SNV Uncertain significance 1004161 GRCh37: 1:112524279-112524279
GRCh38: 1:111981657-111981657
23 KCND3 NM_001378969.1(KCND3):c.930G>A (p.Leu310=) SNV Uncertain significance 1004986 GRCh37: 1:112524419-112524419
GRCh38: 1:111981797-111981797
24 KCND3 NM_172198.2(KCND3):c.1462-1185C>G SNV Uncertain significance 570216 rs976664434 GRCh37: 1:112321080-112321080
GRCh38: 1:111778458-111778458
25 KCND3 NM_004980.4(KCND3):c.1769G>A (p.Arg590His) SNV Uncertain significance 586063 rs186194682 GRCh37: 1:112318898-112318898
GRCh38: 1:111776276-111776276
26 KCND3 NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly) SNV Uncertain significance 967961 GRCh37: 1:112525093-112525093
GRCh38: 1:111982471-111982471
27 KCND3 NM_004980.4(KCND3):c.1646G>A (p.Arg549His) SNV Uncertain significance 264530 rs35027371 GRCh37: 1:112319768-112319768
GRCh38: 1:111777146-111777146
28 KCND3 NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) SNV Uncertain significance 1014492 GRCh37: 1:112319814-112319814
GRCh38: 1:111777192-111777192
29 KCND3 NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr) SNV Uncertain significance 1017799 GRCh37: 1:112525267-112525267
GRCh38: 1:111982645-111982645
30 KCND3 NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) SNV Uncertain significance 1027158 GRCh37: 1:112318721-112318721
GRCh38: 1:111776099-111776099
31 KCND3 NM_004980.4(KCND3):c.89C>A (p.Ala30Asp) SNV Uncertain significance 465169 rs1307934269 GRCh37: 1:112525260-112525260
GRCh38: 1:111982638-111982638
32 KCND3 NM_004980.4(KCND3):c.641A>G (p.Lys214Arg) SNV Uncertain significance 222665 rs142744204 GRCh37: 1:112524708-112524708
GRCh38: 1:111982086-111982086
33 KCND3 NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys) SNV Uncertain significance 958292 GRCh37: 1:112322921-112322921
GRCh38: 1:111780299-111780299
34 KCND3 NM_001378969.1(KCND3):c.878G>A (p.Arg293His) SNV Uncertain significance 1038793 GRCh37: 1:112524471-112524471
GRCh38: 1:111981849-111981849
35 KCND3 NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly) SNV Uncertain significance 1041440 GRCh37: 1:112321098-112321098
GRCh38: 1:111778476-111778476
36 LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) SNV Uncertain significance 488160 rs547323858 GRCh37: 6:112454047-112454047
GRCh38: 6:112132845-112132845
37 KCND3 NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr) SNV Uncertain significance 934368 GRCh37: 1:112318707-112318707
GRCh38: 1:111776085-111776085
38 KCND3 NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala) SNV Uncertain significance 940586 GRCh37: 1:112524963-112524963
GRCh38: 1:111982341-111982341
39 KCND3 NM_004980.4(KCND3):c.1427A>G (p.His476Arg) SNV Uncertain significance 804952 rs1571626155 GRCh37: 1:112322881-112322881
GRCh38: 1:111780259-111780259
40 KCND3 NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser) SNV Uncertain significance 954104 GRCh37: 1:112318724-112318724
GRCh38: 1:111776102-111776102
41 KCND3 NM_004980.4(KCND3):c.1292G>A (p.Arg431His) SNV Uncertain significance 519484 rs771703569 GRCh37: 1:112323391-112323391
GRCh38: 1:111780769-111780769
42 KCND3 NM_004980.4(KCND3):c.1741A>T (p.Ser581Cys) SNV Uncertain significance 577665 rs1420542041 GRCh37: 1:112319673-112319673
GRCh38: 1:111777051-111777051
43 KCND3 NM_004980.4(KCND3):c.1934T>C (p.Ile645Thr) SNV Uncertain significance 579054 rs1557929628 GRCh37: 1:112318733-112318733
GRCh38: 1:111776111-111776111
44 KCND3 NM_004980.4(KCND3):c.1879G>A (p.Gly627Arg) SNV Uncertain significance 647173 rs372362132 GRCh37: 1:112318788-112318788
GRCh38: 1:111776166-111776166
45 KCND3 NM_004980.4(KCND3):c.1756C>G (p.Leu586Val) SNV Uncertain significance 519297 rs778053688 GRCh37: 1:112319658-112319658
GRCh38: 1:111777036-111777036
46 KCND3 NM_004980.4(KCND3):c.1784T>G (p.Leu595Trp) SNV Uncertain significance 655552 rs1483036958 GRCh37: 1:112318883-112318883
GRCh38: 1:111776261-111776261
47 KCND3 NM_004980.4(KCND3):c.1339A>G (p.Asn447Asp) SNV Uncertain significance 663733 rs1571626928 GRCh37: 1:112323344-112323344
GRCh38: 1:111780722-111780722
48 KCND3 NM_004980.4(KCND3):c.257G>A (p.Arg86Gln) SNV Uncertain significance 689484 rs1571941606 GRCh37: 1:112525092-112525092
GRCh38: 1:111982470-111982470
49 KCND3 NM_004980.4(KCND3):c.1709T>C (p.Met570Thr) SNV Uncertain significance 465167 rs1553235743 GRCh37: 1:112319705-112319705
GRCh38: 1:111777083-111777083
50 KCND3 NM_004980.4(KCND3):c.1313C>G (p.Ser438Trp) SNV Uncertain significance 465164 rs1172444288 GRCh37: 1:112323370-112323370
GRCh38: 1:111780748-111780748

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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