Spinocerebellar Ataxia 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Mental diseases Ear diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 607346

MedGen ⁴² C1846367 C2746067

MeSH ⁴⁴ D020754

SNOMED-CT via HPO ⁶⁹ 263681008 8011004 405946002 more

UMLS ⁷³ C1846367 C2746067

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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

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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:

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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

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Drugs & Therapeutics for Spinocerebellar Ataxia 19

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 19

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Genetic Tests for Spinocerebellar Ataxia 19

Genetic tests related to Spinocerebellar Ataxia 19:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia 19 ²⁹	KCND3

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Anatomical Context for Spinocerebellar Ataxia 19

MalaCards organs/tissues related to Spinocerebellar Ataxia 19:

⁴¹

Eye, Spinal Cord, Cerebellum

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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 )	Paucar M....Svenningsson P.	2018

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Genes for Spinocerebellar Ataxia 19

Genes related to Spinocerebellar Ataxia 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	1339.09	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)	11284128 23280838 20301317 (more) 20050888 12764052 23280837
2	LAMA4	Laminin Subunit Alpha 4	Protein Coding	17.57	GeneCards inferred via : Variants (show sections)
3	LOC107986633	Uncharacterized LOC107986633	RNA Gene	7.57	GeneCards inferred via : Variants (show sections)

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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

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Expression for Spinocerebellar Ataxia 19

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

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Pathways for Spinocerebellar Ataxia 19

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GO Terms for Spinocerebellar Ataxia 19

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Sources for Spinocerebellar Ataxia 19

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