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 58 76 30 13 6 74
Spinocerebellar Ataxia 22 58 76 74
Sca19 58 76
Sca22 58 76
Spinocerebellar Ataxia 22; Sca22 58
Ataxia, Spinocerebellar, Type 19 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spinocerebellar ataxia 19:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Spinocerebellar Ataxia 19

UniProtKB/Swiss-Prot : 76 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 cognitive impairment

Description from OMIM: 607346

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 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 11)
# Related Disease Score Top Affiliating Genes
1 lichtenstein-knorr syndrome 11.3
2 spinocerebellar ataxia type 19/22 11.3
3 spinocerebellar ataxia 10 10.0
4 aceruloplasminemia 10.0
5 spinocerebellar ataxia 12 10.0
6 spinocerebellar ataxia 17 10.0
7 spinocerebellar ataxia 8 10.0
8 ataxia and polyneuropathy, adult-onset 10.0
9 autosomal dominant cerebellar ataxia 10.0
10 familial atrial fibrillation 9.5 LAMA4 LOC107986633
11 brugada syndrome 9 9.3 KCND3 LAMA4 LOC107986633

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:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 33 occasional (7.5%) HP:0001347
2 cognitive impairment 33 occasional (7.5%) HP:0100543
3 cogwheel rigidity 33 occasional (7.5%) HP:0002396
4 dysarthria 33 HP:0001260
5 dysphagia 33 HP:0002015
6 myoclonus 33 HP:0001336
7 gait ataxia 33 HP:0002066
8 limb ataxia 33 HP:0002070
9 progressive cerebellar ataxia 33 HP:0002073
10 hyporeflexia 33 HP:0001265
11 truncal ataxia 33 HP:0002078
12 postural tremor 33 HP:0002174
13 cerebellar atrophy 33 HP:0001272
14 gaze-evoked horizontal nystagmus 33 HP:0007979
15 intermittent microsaccadic pursuits 33 HP:0007944

Symptoms via clinical synopsis from OMIM:

58
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

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 19

Genetic Tests for Spinocerebellar Ataxia 19

Genetic tests related to Spinocerebellar Ataxia 19:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 19 30 KCND3

Anatomical Context for Spinocerebellar Ataxia 19

MalaCards organs/tissues related to Spinocerebellar Ataxia 19:

42
Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 19

Articles related to Spinocerebellar Ataxia 19:

# Title Authors Year
1
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. ( 29527639 )
2018
2
Mutations in KCND3 cause spinocerebellar ataxia type 22. ( 23280837 )
2012
3
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. ( 23280838 )
2012
4
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
5
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. ( 12764052 )
2003
6
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. ( 11284128 )
2001

Variations for Spinocerebellar Ataxia 19

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

76
# 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

ClinVar genetic disease variations for Spinocerebellar Ataxia 19:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCND3 NM_004980.4(KCND3): c.680_682delTCT (p.Phe227del) deletion Pathogenic rs397515475 GRCh37 Chromosome 1, 112524667: 112524669
2 KCND3 NM_004980.4(KCND3): c.680_682delTCT (p.Phe227del) deletion Pathogenic rs397515475 GRCh38 Chromosome 1, 111982045: 111982047
3 KCND3 NM_004980.4(KCND3): c.1054A> C (p.Thr352Pro) single nucleotide variant Pathogenic rs397515476 GRCh37 Chromosome 1, 112524295: 112524295
4 KCND3 NM_004980.4(KCND3): c.1054A> C (p.Thr352Pro) single nucleotide variant Pathogenic rs397515476 GRCh38 Chromosome 1, 111981673: 111981673
5 KCND3 NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150401343 GRCh37 Chromosome 1, 112323335: 112323335
6 KCND3 NM_004980.4(KCND3): c.1348C> T (p.Leu450Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150401343 GRCh38 Chromosome 1, 111780713: 111780713
7 KCND3 NM_004980.4(KCND3): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs786205867 GRCh37 Chromosome 1, 112329661: 112329661
8 KCND3 NM_004980.4(KCND3): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs786205867 GRCh38 Chromosome 1, 111787039: 111787039
9 KCND3 NM_004980.4(KCND3): c.1034G> T (p.Gly345Val) single nucleotide variant Pathogenic rs797045634 GRCh37 Chromosome 1, 112524315: 112524315
10 KCND3 NM_004980.4(KCND3): c.1034G> T (p.Gly345Val) single nucleotide variant Pathogenic rs797045634 GRCh38 Chromosome 1, 111981693: 111981693
11 KCND3 NM_004980.4(KCND3): c.641A> G (p.Lys214Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142744204 GRCh37 Chromosome 1, 112524708: 112524708
12 KCND3 NM_004980.4(KCND3): c.641A> G (p.Lys214Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142744204 GRCh38 Chromosome 1, 111982086: 111982086
13 KCND3 NM_004980.4(KCND3): c.669G> C (p.Ser223=) single nucleotide variant Benign rs17215423 GRCh38 Chromosome 1, 111982058: 111982058
14 KCND3 NM_004980.4(KCND3): c.669G> C (p.Ser223=) single nucleotide variant Benign rs17215423 GRCh37 Chromosome 1, 112524680: 112524680
15 KCND3 NM_004980.4(KCND3): c.633G> T (p.Pro211=) single nucleotide variant Benign/Likely benign rs35131566 GRCh37 Chromosome 1, 112524716: 112524716
16 KCND3 NM_004980.4(KCND3): c.633G> T (p.Pro211=) single nucleotide variant Benign/Likely benign rs35131566 GRCh38 Chromosome 1, 111982094: 111982094
17 KCND3 NM_004980.4(KCND3): c.1646G> A (p.Arg549His) single nucleotide variant Uncertain significance rs35027371 GRCh38 Chromosome 1, 111777146: 111777146
18 KCND3 NM_004980.4(KCND3): c.1646G> A (p.Arg549His) single nucleotide variant Uncertain significance rs35027371 GRCh37 Chromosome 1, 112319768: 112319768
19 KCND3 NM_004980.4(KCND3): c.627G> C (p.Thr209=) single nucleotide variant Benign/Likely benign rs149299911 GRCh38 Chromosome 1, 111982100: 111982100
20 KCND3 NM_004980.4(KCND3): c.627G> C (p.Thr209=) single nucleotide variant Benign/Likely benign rs149299911 GRCh37 Chromosome 1, 112524722: 112524722
21 KCND3 NM_004980.4(KCND3): c.5C> A (p.Ala2Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs201340369 GRCh37 Chromosome 1, 112525344: 112525344
22 KCND3 NM_004980.4(KCND3): c.5C> A (p.Ala2Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs201340369 GRCh38 Chromosome 1, 111982722: 111982722
23 KCND3 NM_004980.4(KCND3): c.1153T> C (p.Ser385Pro) single nucleotide variant Pathogenic rs1057519453 GRCh37 Chromosome 1, 112329682: 112329682
24 KCND3 NM_004980.4(KCND3): c.1153T> C (p.Ser385Pro) single nucleotide variant Pathogenic rs1057519453 GRCh38 Chromosome 1, 111787060: 111787060
25 KCND3 NM_004980.4(KCND3): c.1519-4G> T single nucleotide variant Benign rs72548732 GRCh37 Chromosome 1, 112319899: 112319899
26 KCND3 NM_004980.4(KCND3): c.1519-4G> T single nucleotide variant Benign rs72548732 GRCh38 Chromosome 1, 111777277: 111777277
27 KCND3 NM_004980.4(KCND3): c.375G> A (p.Pro125=) single nucleotide variant Benign rs2289723 GRCh37 Chromosome 1, 112524974: 112524974
28 KCND3 NM_004980.4(KCND3): c.375G> A (p.Pro125=) single nucleotide variant Benign rs2289723 GRCh38 Chromosome 1, 111982352: 111982352
29 KCND3 NM_004980.4(KCND3): c.1323C> T (p.Tyr441=) single nucleotide variant Benign rs17215458 GRCh37 Chromosome 1, 112323360: 112323360
30 KCND3 NM_004980.4(KCND3): c.1323C> T (p.Tyr441=) single nucleotide variant Benign rs17215458 GRCh38 Chromosome 1, 111780738: 111780738
31 KCND3 NM_004980.4(KCND3): c.1111G> A (p.Gly371Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057521793 GRCh37 Chromosome 1, 112329724: 112329724
32 KCND3 NM_004980.4(KCND3): c.1111G> A (p.Gly371Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057521793 GRCh38 Chromosome 1, 111787102: 111787102
33 KCND3 NM_004980.4(KCND3): c.1062C> A (p.Ile354=) single nucleotide variant Benign/Likely benign rs150934088 GRCh38 Chromosome 1, 111981665: 111981665
34 KCND3 NM_004980.4(KCND3): c.1062C> A (p.Ile354=) single nucleotide variant Benign/Likely benign rs150934088 GRCh37 Chromosome 1, 112524287: 112524287
35 KCND3 NM_004980.4(KCND3): c.1269+6C> T single nucleotide variant Uncertain significance rs1060502174 GRCh37 Chromosome 1, 112329560: 112329560
36 KCND3 NM_004980.4(KCND3): c.1269+6C> T single nucleotide variant Uncertain significance rs1060502174 GRCh38 Chromosome 1, 111786938: 111786938
37 KCND3 NM_004980.4(KCND3): c.957C> G (p.Ser319=) single nucleotide variant Benign rs61733426 GRCh37 Chromosome 1, 112524392: 112524392
38 KCND3 NM_004980.4(KCND3): c.957C> G (p.Ser319=) single nucleotide variant Benign rs61733426 GRCh38 Chromosome 1, 111981770: 111981770
39 KCND3 NM_004980.4(KCND3): c.1456A> G (p.Thr486Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs149008060 GRCh37 Chromosome 1, 112322852: 112322852
40 KCND3 NM_004980.4(KCND3): c.1456A> G (p.Thr486Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs149008060 GRCh38 Chromosome 1, 111780230: 111780230
41 KCND3 NM_004980.4(KCND3): c.870G> T (p.Arg290=) single nucleotide variant Benign rs200894990 GRCh37 Chromosome 1, 112524479: 112524479
42 KCND3 NM_004980.4(KCND3): c.870G> T (p.Arg290=) single nucleotide variant Benign rs200894990 GRCh38 Chromosome 1, 111981857: 111981857
43 KCND3 NM_004980.4(KCND3): c.117T> C (p.Asp39=) single nucleotide variant Benign/Likely benign rs12720446 GRCh38 Chromosome 1, 111982610: 111982610
44 KCND3 NM_004980.4(KCND3): c.117T> C (p.Asp39=) single nucleotide variant Benign/Likely benign rs12720446 GRCh37 Chromosome 1, 112525232: 112525232
45 KCND3 NM_004980.4(KCND3): c.1354G> A (p.Glu452Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200532657 GRCh38 Chromosome 1, 111780707: 111780707
46 KCND3 NM_004980.4(KCND3): c.1354G> A (p.Glu452Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200532657 GRCh37 Chromosome 1, 112323329: 112323329
47 KCND3 NM_004980.4(KCND3): c.1601C> T (p.Pro534Leu) single nucleotide variant Uncertain significance rs1553235768 GRCh37 Chromosome 1, 112319813: 112319813
48 KCND3 NM_004980.4(KCND3): c.1601C> T (p.Pro534Leu) single nucleotide variant Uncertain significance rs1553235768 GRCh38 Chromosome 1, 111777191: 111777191
49 KCND3 NM_004980.4(KCND3): c.1917C> A (p.Asn639Lys) single nucleotide variant Uncertain significance rs777172603 GRCh38 Chromosome 1, 111776128: 111776128
50 KCND3 NM_004980.4(KCND3): c.1917C> A (p.Asn639Lys) single nucleotide variant Uncertain significance rs777172603 GRCh37 Chromosome 1, 112318750: 112318750

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

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