Spinocerebellar Ataxia 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCA14 MCID: SPN312 MIFTS: 47	Spinocerebellar Ataxia 14 (SCA14) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spinocerebellar Ataxia 14

MalaCards integrated aliases for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 ⁵⁶ ⁵² ⁷³ ¹³ ⁷¹

Spinocerebellar Ataxia Type 14 ¹² ²⁴ ⁵² ⁵⁸ ²⁹ ⁶ ¹⁵

Sca14 ⁵⁶ ²⁴ ⁵² ⁵⁸ ⁷³ ⁵⁴

Ataxia, Spinocerebellar, Type 14 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

⁵⁶

Miscellaneous:
slow progression
incomplete penetrance
mean age of onset 31 years (range 5-60)

Inheritance:
autosomal dominant

HPO:

³¹

spinocerebellar ataxia 14:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression incomplete penetrance

GeneReviews:

²⁴

Penetrance Clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least three families [yabe et al 2003, chen et al 2005].

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Late-onset cerebellar ataxia

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050964

OMIM ⁵⁶ 605361

OMIM Phenotypic Series ⁵⁶ PS164400

MeSH ⁴³ D020754

MESH via Orphanet ⁴⁴ C537196

ICD10 via Orphanet ³³ G11.2

UMLS via Orphanet ⁷² C1854369

Orphanet ⁵⁸ ORPHA98763

MedGen ⁴¹ C1854369

UMLS ⁷¹ C1854369

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Summaries for Spinocerebellar Ataxia 14

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98763 Definition Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus . Epidemiology The disease has been reported in more than twenty families from Europe, the United States, and Australia. Clinical description Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years (mean = 33.9 years). In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia , axial myoclonus, facial myokymia, choreic movement of hands and epilepsy . Etiology SCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 14, also known as spinocerebellar ataxia type 14, is related to cerebellar disease and autosomal dominant cerebellar ataxia, and has symptoms including gait ataxia and memory loss. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are Development Ligand-independent activation of ESR1 and ESR2 and Spinocerebellar ataxia. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are gait ataxia and generalized hypotonia

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has material basis in mutation in the PRKCG gene.

UniProtKB/Swiss-Prot : ⁷³ Spinocerebellar ataxia 14: Spinocerebellar ataxia is 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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).

More information from OMIM: 605361 PS164400

GeneReviews: NBK1399

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Related Diseases for Spinocerebellar Ataxia 14

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 2
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 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	cerebellar disease	29.8	PRKCG CACNA1A APTX
2	autosomal dominant cerebellar ataxia	29.3	TMEM240 PRKCG PDYN CACNA1A APTX
3	dystonia	29.0	PRKCG PDYN CACNA1A APTX
4	hereditary ataxia	28.5	TRPC3 TMEM240 PRKCG PDYN CACNA1A APTX
5	spinocerebellar ataxia, autosomal recessive 14	11.6
6	dystonia 11, myoclonic	11.3
7	ataxia and polyneuropathy, adult-onset	10.4
8	tremor	10.3
9	cerebellar ataxia type 41	10.2	TRPC3 PRKCG
10	spinocerebellar ataxia 1	10.2	PRKCG CACNA1A
11	focal dystonia	10.1
12	cervical dystonia	10.1
13	retinal degeneration	10.1
14	myoclonus	10.1
15	alzheimer disease	10.1
16	multiple system atrophy 1	10.1
17	kearns-sayre syndrome	10.1
18	dystonia, focal, task-specific	10.1
19	movement disease	10.1
20	peripheral nervous system disease	10.1
21	paraplegia	10.1
22	prion disease	10.1
23	neuropathy	10.1
24	sgce myoclonus-dystonia	10.1
25	dysphagia	10.1
26	spasticity	10.1
27	cerebellar ataxia type 42	10.1	TRPC3 CACNA1A
28	huntington disease	10.0
29	spinocerebellar ataxia 4	10.0
30	pathologic nystagmus	10.0
31	mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance	9.9	CACNA1A APTX
32	episodic ataxia, type 2	9.9	PRKCG CACNA1A
33	pontocerebellar hypoplasia, type 7	9.9	CACNA1A APTX
34	spinocerebellar ataxia 30	9.9	PDYN CACNA1A
35	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	9.9	PRKCG CACNA1A APTX
36	spinocerebellar ataxia 23	9.8	TMEM240 PDYN
37	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	9.8	CACNA1A APTX
38	spinocerebellar ataxia 6	9.7	PRKCG PDYN CACNA1A

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:

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Symptoms & Phenotypes for Spinocerebellar Ataxia 14

Human phenotypes related to Spinocerebellar Ataxia 14:

⁵⁸ ³¹ (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	gait ataxia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002066
2	generalized hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001290
3	cerebellar vermis atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006855
4	abnormality of the achilles tendon ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005109
5	progressive cerebellar ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002073
6	limb ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002070
7	cognitive impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100543
8	myoclonus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001336
9	tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001337
10	dysarthria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001260
11	rigidity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002063
12	sensory impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003474
13	saccadic smooth pursuit ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001152
14	hyporeflexia of lower limbs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002600
15	gaze-evoked nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000640
16	dysphagia ³¹			HP:0002015
17	nystagmus ³¹			HP:0000639
18	hyperreflexia ³¹			HP:0001347
19	memory impairment ³¹			HP:0002354
20	attention deficit hyperactivity disorder ³¹			HP:0007018
21	depressivity ³¹			HP:0000716
22	dysmetria ³¹			HP:0001310
23	mental deterioration ³¹			HP:0001268
24	cerebellar atrophy ³¹			HP:0001272
25	focal dystonia ³¹			HP:0004373
26	impaired vibration sensation at ankles ³¹			HP:0006938
27	facial myokymia ³¹			HP:0000317

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
dysphagia
hyperreflexia
dysarthria
dysmetria
gait ataxia
more

Head And Neck Face:
facial myokymia

Neurologic Peripheral Nervous System:
decreased vibration sense at ankles

Head And Neck Eyes:
nystagmus
eye movement abnormalities
saccadic intrusions

Neurologic Behavioral Psychiatric Manifestations:
memory loss
depression
cognitive decline
attention deficits

Clinical features from OMIM:

605361

UMLS symptoms related to Spinocerebellar Ataxia 14:

gait ataxia, memory loss

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability	GR00231-A	9.1	CDK13
2	Increased viability	GR00342-S-1	9.1	PRKCG
3	Increased viability	GR00342-S-2	9.1	DGKG PRKCG
4	Increased viability	GR00342-S-3	9.1	DGKG PRKCG
5	Decreased cell viability after pRB stimulation	GR00230-A-1	8.96	DGKG PRKCG

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Drugs & Therapeutics for Spinocerebellar Ataxia 14

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 14

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Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia Type 14 ²⁹	PRKCG

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Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

⁴⁰

Eye, Cerebellum, Spinal Cord, Cortex

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Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

(show top 50) (show all 80)

#	Title	Authors	PMID	Year
1	Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. ⁶¹ ²⁴ ⁵⁴ ⁵⁶ ⁶	Asai H...Ueno S	19561170	2009
2	Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. ²⁴ ⁵⁶ ⁶ ⁵⁴ ⁶¹	Verbeek DS...Sinke RJ	15841389	2005
3	Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. ⁶¹ ⁵⁴ ²⁴ ⁵⁶ ⁶	Stevanin G...Durr A	15313841	2004
4	Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. ⁵⁶ ²⁴ ⁶ ⁵⁴ ⁶¹	Yabe I...Tashiro K	14676051	2003
5	A Japanese case of SCA14 with the Gly128Asp mutation. ⁵⁴ ⁶¹ ⁶ ⁵⁶	Morita H...Ikeda SI	17024314	2006
6	Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. ²⁴ ⁵⁶ ⁶	van de Warrenburg BP...Sinke RJ	14694043	2003
7	Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. ⁶ ⁵⁶ ²⁴	Chen DH...Raskind WH	12644968	2003
8	A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. ⁵⁶ ²⁴ ⁶	Brkanac Z...Bird TD	12164726	2002
9	New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. ⁵⁶ ⁵⁴ ²⁴ ⁶¹	Klebe S...Stevanin G	16193476	2005
10	The clinical and genetic spectrum of spinocerebellar ataxia 14. ⁶¹ ⁵⁴ ⁶ ²⁴	Chen DH...Bird TD	15824357	2005
11	Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. ²⁴ ⁵⁶	Sailer A...Houlden H	22675081	2012
12	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁶ ²⁴	Najmabadi H...Ropers HH	21937992	2011
13	Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ⁶ ⁶¹ ⁵⁴	Verbeek DS...Howell BW	15618281	2005
14	A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. ⁶ ⁶¹ ⁵⁴	Alonso I...Silveira I	16189624	2005
15	A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. ⁵⁶ ²⁴	Yamashita I...Tashiro K	10939565	2000
16	Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. ⁵⁴ ²⁴ ⁶¹	Miura S...Taniwaki T	18986758	2009
17	PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. ⁵⁴ ²⁴ ⁶¹	Verbeek DS...Reits EA	18577575	2008
18	Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. ⁵⁶ ⁶¹	Klebe S...Durr A	17562946	2007
19	Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. ⁵⁴ ²⁴ ⁶¹	Hiramoto K...Sakai N	16763984	2006
20	Spinocerebellar Ataxia Type 14 ⁶ ⁶¹	Chen DH...Raskind WH	20301573	2005
21	Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene. ²⁴ ⁶¹	Shirafuji T...Sakai N	31158466	2019
22	Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia. ²⁴ ⁶¹	Trzesniewski J...Kapfhammer JP	30312605	2019
23	Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. ²⁴ ⁶¹	Wong MMK...Becker EBE	30249303	2018
24	Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. ²⁴ ⁶¹	Chelban V...Houlden H	29603387	2018
25	Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein. ⁶¹ ²⁴	Takahashi H...Saito N	25217572	2015
26	Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. ²⁴ ⁶¹	Ji J...Kapfhammer JP	24937631	2014
27	Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14. ⁶¹ ²⁴	Ganos C...Baumer T	24030789	2014
28	Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. ⁶¹ ²⁴	Wedding IM...Tallaksen CM	24289098	2013
29	Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. ⁶¹ ²⁴	Foncke EM...Tijssen MA	19913450	2010
30	EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ⁶	Gasser T...EFNS	20050888	2010
31	Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. ⁶¹ ²⁴	Seki T...Sakai N	19041943	2009
32	Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. ²⁴ ⁶¹	Doran G...Talbot K	18503760	2008
33	Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. ²⁴ ⁶¹	Adachi N...Saito N	18499672	2008
34	Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress. ⁶¹ ²⁴	Seki T...Sakai N	18005063	2007
35	Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. ²⁴ ⁵⁴	Wieczorek S...Timmann D	17708558	2007
36	PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. ⁶¹ ²⁴	Visser JE...van de Warrenburg BP	17343273	2007
37	Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ⁶¹ ²⁴	Nolte D...Muller U	17149711	2007
38	Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. ⁶¹ ²⁴	Fahey MC...Storey E	16291902	2005
39	Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. ²⁴ ⁶¹	Seki T...Sakai N	15964845	2005
40	Hereditary Ataxia Overview ⁶	Bird TD	20301317	1998
41	Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia. ²⁴	Chopra R...Shakkottai VG	29432535	2018
42	A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. ²⁴	Coutelier M...SPATAX network	28444220	2017
43	The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. ²⁴	Stenson PD...Cooper DN	28349240	2017
44	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
45	A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia. ²⁴	van Gaalen J...Dooijes D	23853068	2013
46	SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. ²⁴	Koht J...Tallaksen CM	21434874	2012
47	Protection from ataxia-linked apoptosis by gap junction inhibitors. ⁵⁴ ⁶¹	Lin D...Takemoto DJ	17822669	2007
48	Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. ²⁴	Basri R...Sasaki H	17805477	2007
49	Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. ²⁴	Dalski A...Zuhlke C	16649092	2006
50	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. ²⁴	Vlak MH...van de Warrenburg BP	16547918	2006

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Genes for Spinocerebellar Ataxia 14

Genes related to Spinocerebellar Ataxia 14 (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRKCG	Protein Kinase C Gamma	Protein Coding	1708.27	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	16189624 15313841 14676051 (more) 14694043 17024314 20301317 20050888 19561170 21937992 20301573 15618281 15841389 12164726 12644968 15824357 18577575 15618281 16763984 14676051 18986758 17024314 17822669 16828200 15841389 15148151 15313841 15824357 17708558 19561170 16189624 16193476
2	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	6.21	DISEASES inferred ¹⁵
3	DGKG	Diacylglycerol Kinase Gamma	Protein Coding	5.98	DISEASES inferred ¹⁵
4	MARCKS	Myristoylated Alanine Rich Protein Kinase C Substrate	Protein Coding	5.84	DISEASES inferred ¹⁵
5	VSTM2L	V-Set And Transmembrane Domain Containing 2 Like	Protein Coding	5.27	DISEASES inferred ¹⁵
6	APTX	Aprataxin	Protein Coding	5.24	DISEASES inferred ¹⁵
7	CDK13	Cyclin Dependent Kinase 13	Protein Coding	5.19	DISEASES inferred ¹⁵
8	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	5.09	DISEASES inferred ¹⁵
9	PDYN	Prodynorphin	Protein Coding	5.05	DISEASES inferred ¹⁵
10	SGSM1	Small G Protein Signaling Modulator 1	Protein Coding	5.03	DISEASES inferred ¹⁵
11	CYS1	Cystin 1	Protein Coding	4.96	DISEASES inferred ¹⁵
12	TMEM240	Transmembrane Protein 240	Protein Coding	4.95	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 14

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

⁶ (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PRKCG	NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)	SNV	Pathogenic	13244	rs121918511	19:54392907-54392907	19:53889653-53889653
2	PRKCG	NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)	SNV	Pathogenic	13245	rs121918512	19:54392961-54392961	19:53889707-53889707
3	PRKCG	NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)	SNV	Pathogenic	13246	rs121918513	19:54392989-54392989	19:53889735-53889735
4	PRKCG	NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)	SNV	Pathogenic	13247	rs121918514	19:54392959-54392959	19:53889705-53889705
5	PRKCG	NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)	SNV	Pathogenic	13248	rs121918515	19:54392986-54392986	19:53889732-53889732
6	PRKCG	NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)	SNV	Pathogenic	13249	rs121918516	19:54409982-54409982	19:53906728-53906728
7	PRKCG	NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)	SNV	Pathogenic	13250	rs121918517	19:54401354-54401354	19:53898100-53898100
8	PRKCG	NM_002739.5(PRKCG):c.303C>G (p.His101Gln)	SNV	Pathogenic	13251	rs121918518	19:54392909-54392909	19:53889655-53889655
9	PRKCG	NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)	deletion	Pathogenic	13252	rs1555808841	19:54410146-54410247	19:53906892-53906993
10	PRKCG	NM_002739.3(PRKCG):c.530_919del	deletion	Pathogenic	29857
11	PRKCG	NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)	SNV	Pathogenic	29858	rs387906679	19:54403866-54403866	19:53900612-53900612
12	PRKCG	NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)	SNV	Pathogenic	42129	rs386134171	19:54401351-54401351	19:53898097-53898097
13	PRKCG	NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)	SNV	Pathogenic	42132	rs386134158	19:54385870-54385870	19:53882616-53882616
14	PRKCG	NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)	SNV	Pathogenic	42140	rs386134159	19:54386434-54386434	19:53883180-53883180
15	PRKCG	NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)	SNV	Pathogenic	42148	rs386134160	19:54387441-54387441	19:53884187-53884187
16	PRKCG	NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)	deletion	Pathogenic	42157	rs386134161	19:54392902-54392907	19:53889648-53889653
17	PRKCG	NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)	SNV	Pathogenic	42161	rs386134162	19:54392947-54392947	19:53889693-53889693
18	PRKCG	NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)	SNV	Pathogenic	42164	rs386134164	19:54392973-54392973	19:53889719-53889719
19	PRKCG	NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)	SNV	Pathogenic	42165	rs386134165	19:54392974-54392974	19:53889720-53889720
20	PRKCG	NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)	SNV	Pathogenic	42166	rs386134166	19:54392997-54392997	19:53889743-53889743
21	PRKCG	NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)	SNV	Pathogenic	42169	rs386134168	19:54393155-54393155	19:53889901-53889901
22	PRKCG	NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe)	indel	Pathogenic	42170	rs386134170	19:54393191-54393192	19:53889937-53889938
23	PRKCG	NM_002739.5(PRKCG):c.417C>A (p.His139Gln)	SNV	Pathogenic	42171	rs386134169	19:54393159-54393159	19:53889905-53889905
24	PRKCG	NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)	SNV	Pathogenic	42174	rs386134157	19:54385824-54385824	19:53882570-53882570
25	PRKCG	NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)	SNV	Likely pathogenic	211956	rs797045900	19:54385902-54385902	19:53882648-53882648
26	PRKCG	NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)	SNV	Likely pathogenic	42163	rs386134163	19:54392962-54392962	19:53889708-53889708
27	PRKCG	NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)	SNV	Likely pathogenic	436421	rs1555806333	19:54386443-54386443	19:53883189-53883189
28	PRKCG	NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)	SNV	Likely pathogenic	804156		19:54392973-54392973	19:53889719-53889719
29	PRKCG	NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)	SNV	Likely pathogenic	804150		19:54392985-54392985	19:53889731-53889731
30	PRKCG	NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)	SNV	Conflicting interpretations of pathogenicity	42145	rs78437096	19:54410130-54410130	19:53906876-53906876
31	PRKCG	NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)	SNV	Conflicting interpretations of pathogenicity	804155		19:54387442-54387442	19:53884188-53884188
32	PRKCG	NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys)	SNV	Uncertain significance	330064	rs771732555	19:54395788-54395788	19:53892534-53892534
33	PRKCG	NM_002739.5(PRKCG):c.1962G>C (p.Leu654=)	SNV	Uncertain significance	330071	rs868833808	19:54410017-54410017	19:53906763-53906763
34	PRKCG	NM_002739.5(PRKCG):c.*360G>C	SNV	Uncertain significance	330078	rs886054614	19:54410509-54410509	19:53907255-53907255
35	PRKCG	NM_002739.5(PRKCG):c.*427T>C	SNV	Uncertain significance	330079	rs886054615	19:54410576-54410576	19:53907322-53907322
36	PRKCG	NM_002739.5(PRKCG):c.*481T>C	SNV	Uncertain significance	330081	rs886054616	19:54410630-54410630	19:53907376-53907376
37	PRKCG	NM_002739.5(PRKCG):c.*550C>T	SNV	Uncertain significance	330082	rs778703745	19:54410699-54410699	19:53907445-53907445
38	PRKCG	NM_002739.5(PRKCG):c.-233C>T	SNV	Uncertain significance	330055	rs752173466	19:54385516-54385516	19:53882262-53882262
39	PRKCG	NM_002739.5(PRKCG):c.1282-14G>A	SNV	Uncertain significance	893407		19:54403473-54403473	19:53900219-53900219
40	PRKCG	NM_002739.5(PRKCG):c.1764+8C>T	SNV	Uncertain significance	894245		19:54408004-54408004	19:53904750-53904750
41	PRKCG	NM_002739.5(PRKCG):c.1906-10T>C	SNV	Uncertain significance	894247		19:54409951-54409951	19:53906697-53906697
42	PRKCG	NM_002739.5(PRKCG):c.529+11G>T	SNV	Uncertain significance	330061	rs886054612	19:54393282-54393282	19:53890028-53890028
43	PRKCG	NM_002739.5(PRKCG):c.1960C>T (p.Leu654=)	SNV	Uncertain significance	330070	rs753906154	19:54410015-54410015	19:53906761-53906761
44	PRKCG	NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile)	SNV	Uncertain significance	330073	rs751824637	19:54410141-54410141	19:53906887-53906887
45	PRKCG	NM_002739.5(PRKCG):c.*39C>T	SNV	Uncertain significance	330074	rs776490487	19:54410188-54410188	19:53906934-53906934
46	PRKCG	NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)	SNV	Uncertain significance	42167	rs386134167	19:54392998-54392998	19:53889744-53889744
47	PRKCG	NM_002739.5(PRKCG):c.234C>T (p.His78=)	SNV	Uncertain significance	894617		19:54387446-54387446	19:53884192-53884192
48	PRKCG	NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)	SNV	Uncertain significance	518305	rs1471641294	19:54395791-54395791	19:53892537-53892537
49	PRKCG	NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)	SNV	Uncertain significance	518306	rs143513754	19:54407979-54407979	19:53904725-53904725
50	PRKCG	NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)	SNV	Uncertain significance	617542	rs1303074743	19:54409689-54409689	19:53906435-53906435

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PRKCG	p.His101Tyr	VAR_017060	rs121918511
2	PRKCG	p.Ser119Pro	VAR_017061	rs121918512
3	PRKCG	p.Gly128Asp	VAR_017062	rs121918513
4	PRKCG	p.Gly63Arg	VAR_080740
5	PRKCG	p.Gly63Val	VAR_080741	rs386134159

Sources

Expression for Spinocerebellar Ataxia 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia 14.

Sources

Pathways for Spinocerebellar Ataxia 14

Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	11.66	PRKCG PDYN CACNA1A
2	Spinocerebellar ataxia ³⁶	11.05	TRPC3 PRKCG PDYN CACNA1A
3	Effects of PIP2 hydrolysis ⁶⁵ Show member pathways Arachidonate production from DAG ⁶⁵	10.46	TRPC3 DGKG

Sources

GO Terms for Spinocerebellar Ataxia 14

Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.28	VSTM2L TRPC3 TMEM240 PRKCG PDYN MARCKS
2	synaptic membrane	GO:0097060	8.96	TMEM240 PRKCG

Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chemical synaptic transmission	GO:0007268	9.43	PRKCG PDYN CACNA1A
2	negative regulation of neuron apoptotic process	GO:0043524	9.33	VSTM2L PRKCG CACNA1A
3	response to pain	GO:0048265	8.96	PRKCG CACNA1A
4	platelet activation	GO:0030168	8.8	TRPC3 PRKCG DGKG

Sources

Sources for Spinocerebellar Ataxia 14

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spinocerebellar Ataxia 14 (SCA14)

Aliases & Classifications for Spinocerebellar Ataxia 14

MalaCards integrated aliases for Spinocerebellar Ataxia 14:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia 14

Related Diseases for Spinocerebellar Ataxia 14

Diseases in the Spinocerebellar Ataxia 6 family:

Diseases related to Spinocerebellar Ataxia 14 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:

Symptoms & Phenotypes for Spinocerebellar Ataxia 14

Human phenotypes related to Spinocerebellar Ataxia 14:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spinocerebellar Ataxia 14:

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Spinocerebellar Ataxia 14

Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

Genes for Spinocerebellar Ataxia 14

Genes related to Spinocerebellar Ataxia 14 (1 elite genes):

Variations for Spinocerebellar Ataxia 14

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

Expression for Spinocerebellar Ataxia 14

Pathways for Spinocerebellar Ataxia 14

Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

GO Terms for Spinocerebellar Ataxia 14

Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

Sources for Spinocerebellar Ataxia 14