MCID: SPN095
MIFTS: 31

Spinocerebellar Ataxia 19

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia 19

MalaCards integrated aliases for Spinocerebellar Ataxia 19:

Name: Spinocerebellar Ataxia 19 57 75 29 13 6 73
Spinocerebellar Ataxia 22 57 75 73
Sca19 57 75
Sca22 57 75
Spinocerebellar Ataxia 22; Sca22 57
Ataxia, Spinocerebellar, Type 19 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Spinocerebellar Ataxia 19

UniProtKB/Swiss-Prot : 75 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 cerebellar ataxia, ataxia, truncal and gait ataxia. 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 dysarthria and hyperreflexia

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, Autosomal Recessive 1
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 Type 16
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:

# Related Disease Score Top Affiliating Genes
1 lichtenstein-knorr syndrome 11.1
2 spinocerebellar ataxia type 19/22 11.1
3 autosomal dominant cerebellar ataxia 9.9
4 cerebritis 9.9
5 familial atrial fibrillation 9.2 LAMA4 LOC107986633
6 left ventricular noncompaction 9.0 LAMA4 LOC107986633
7 brugada syndrome 9 8.6 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

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

Human phenotypes related to Spinocerebellar Ataxia 19:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 hyperreflexia 32 occasional (7.5%) HP:0001347
3 dysphagia 32 HP:0002015
4 cognitive impairment 32 occasional (7.5%) HP:0100543
5 myoclonus 32 HP:0001336
6 gait ataxia 32 HP:0002066
7 limb ataxia 32 HP:0002070
8 progressive cerebellar ataxia 32 HP:0002073
9 hyporeflexia 32 HP:0001265
10 truncal ataxia 32 HP:0002078
11 postural tremor 32 HP:0002174
12 cerebellar atrophy 32 HP:0001272
13 gaze-evoked horizontal nystagmus 32 HP:0007979
14 cogwheel rigidity 32 occasional (7.5%) HP:0002396
15 intermittent microsaccadic pursuits 32 HP:0007944

UMLS symptoms related to Spinocerebellar Ataxia 19:


cerebellar ataxia, ataxia, truncal, gait ataxia

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 Year
1
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. ( 29527639 )
2018

Variations for Spinocerebellar Ataxia 19

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

75
# 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.Met373Ile VAR_070789 rs397515477
5 KCND3 p.Thr377Met VAR_070790
6 KCND3 p.Ser390Asn VAR_070791 rs397515478
7 KCND3 p.Gly384Ser VAR_079709

ClinVar genetic disease variations for Spinocerebellar Ataxia 19:

6
(show top 50) (show all 72)
# 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.627G> C (p.Thr209=) single nucleotide variant Benign/Likely benign rs149299911 GRCh38 Chromosome 1, 111982100: 111982100
18 KCND3 NM_004980.4(KCND3): c.627G> C (p.Thr209=) single nucleotide variant Benign/Likely benign rs149299911 GRCh37 Chromosome 1, 112524722: 112524722
19 KCND3 NM_004980.4(KCND3): c.5C> A (p.Ala2Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs201340369 GRCh37 Chromosome 1, 112525344: 112525344
20 KCND3 NM_004980.4(KCND3): c.5C> A (p.Ala2Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs201340369 GRCh38 Chromosome 1, 111982722: 111982722
21 KCND3 NM_004980.4(KCND3): c.1153T> C (p.Ser385Pro) single nucleotide variant Pathogenic rs1057519453 GRCh38 Chromosome 1, 111787060: 111787060
22 KCND3 NM_004980.4(KCND3): c.1153T> C (p.Ser385Pro) single nucleotide variant Pathogenic rs1057519453 GRCh37 Chromosome 1, 112329682: 112329682
23 KCND3 NM_004980.4(KCND3): c.1519-4G> T single nucleotide variant Benign rs72548732 GRCh37 Chromosome 1, 112319899: 112319899
24 KCND3 NM_004980.4(KCND3): c.1519-4G> T single nucleotide variant Benign rs72548732 GRCh38 Chromosome 1, 111777277: 111777277
25 KCND3 NM_004980.4(KCND3): c.375G> A (p.Pro125=) single nucleotide variant Benign rs2289723 GRCh37 Chromosome 1, 112524974: 112524974
26 KCND3 NM_004980.4(KCND3): c.375G> A (p.Pro125=) single nucleotide variant Benign rs2289723 GRCh38 Chromosome 1, 111982352: 111982352
27 KCND3 NM_004980.4(KCND3): c.1323C> T (p.Tyr441=) single nucleotide variant Benign rs17215458 GRCh37 Chromosome 1, 112323360: 112323360
28 KCND3 NM_004980.4(KCND3): c.1323C> T (p.Tyr441=) single nucleotide variant Benign rs17215458 GRCh38 Chromosome 1, 111780738: 111780738
29 KCND3 NM_004980.4(KCND3): c.1062C> A (p.Ile354=) single nucleotide variant Likely benign rs150934088 GRCh38 Chromosome 1, 111981665: 111981665
30 KCND3 NM_004980.4(KCND3): c.1062C> A (p.Ile354=) single nucleotide variant Likely benign rs150934088 GRCh37 Chromosome 1, 112524287: 112524287
31 KCND3 NM_004980.4(KCND3): c.1269+6C> T single nucleotide variant Uncertain significance rs1060502174 GRCh37 Chromosome 1, 112329560: 112329560
32 KCND3 NM_004980.4(KCND3): c.1269+6C> T single nucleotide variant Uncertain significance rs1060502174 GRCh38 Chromosome 1, 111786938: 111786938
33 KCND3 NM_004980.4(KCND3): c.957C> G (p.Ser319=) single nucleotide variant Benign rs61733426 GRCh37 Chromosome 1, 112524392: 112524392
34 KCND3 NM_004980.4(KCND3): c.957C> G (p.Ser319=) single nucleotide variant Benign rs61733426 GRCh38 Chromosome 1, 111981770: 111981770
35 KCND3 NM_004980.4(KCND3): c.1456A> G (p.Thr486Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs149008060 GRCh38 Chromosome 1, 111780230: 111780230
36 KCND3 NM_004980.4(KCND3): c.1456A> G (p.Thr486Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs149008060 GRCh37 Chromosome 1, 112322852: 112322852
37 KCND3 NM_004980.4(KCND3): c.870G> T (p.Arg290=) single nucleotide variant Benign rs200894990 GRCh37 Chromosome 1, 112524479: 112524479
38 KCND3 NM_004980.4(KCND3): c.870G> T (p.Arg290=) single nucleotide variant Benign rs200894990 GRCh38 Chromosome 1, 111981857: 111981857
39 KCND3 NM_004980.4(KCND3): c.117T> C (p.Asp39=) single nucleotide variant Benign/Likely benign rs12720446 GRCh38 Chromosome 1, 111982610: 111982610
40 KCND3 NM_004980.4(KCND3): c.117T> C (p.Asp39=) single nucleotide variant Benign/Likely benign rs12720446 GRCh37 Chromosome 1, 112525232: 112525232
41 KCND3 NM_004980.4(KCND3): c.1354G> A (p.Glu452Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200532657 GRCh38 Chromosome 1, 111780707: 111780707
42 KCND3 NM_004980.4(KCND3): c.1354G> A (p.Glu452Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200532657 GRCh37 Chromosome 1, 112323329: 112323329
43 KCND3 NM_004980.4(KCND3): c.1601C> T (p.Pro534Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 112319813: 112319813
44 KCND3 NM_004980.4(KCND3): c.1601C> T (p.Pro534Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 111777191: 111777191
45 KCND3 NM_004980.4(KCND3): c.1917C> A (p.Asn639Lys) single nucleotide variant Uncertain significance rs777172603 GRCh38 Chromosome 1, 111776128: 111776128
46 KCND3 NM_004980.4(KCND3): c.1917C> A (p.Asn639Lys) single nucleotide variant Uncertain significance rs777172603 GRCh37 Chromosome 1, 112318750: 112318750
47 KCND3 NM_004980.4(KCND3): c.1519-5C> T single nucleotide variant Likely benign rs376408039 GRCh38 Chromosome 1, 111777278: 111777278
48 KCND3 NM_004980.4(KCND3): c.1519-5C> T single nucleotide variant Likely benign rs376408039 GRCh37 Chromosome 1, 112319900: 112319900
49 KCND3 NM_004980.4(KCND3): c.89C> A (p.Ala30Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 111982638: 111982638
50 KCND3 NM_004980.4(KCND3): c.89C> A (p.Ala30Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 112525260: 112525260

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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