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

SCA14 MCID: SPN312 MIFTS: 45	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 ²⁹ ¹³ ⁶ ⁷¹

Sca14 ⁵⁶ ²⁴ ⁵² ⁵⁸ ⁷³ ⁵⁴

Spinocerebellar Ataxia Type 14 ¹² ²⁴ ⁵² ⁵⁸ ¹⁵

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 Too few families have been studied to specify the penetrance or to determine if decreased penetrance is related to specific pathogenic variants. however, clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least two families [yabe et al 2003, chen et al 2005]. in general, penetrance is high when late-onset cases are included [klebe 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 sca14, is related to dystonia 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 Dopamine-DARPP32 Feedback onto cAMP Pathway and Development Ligand-independent activation of ESR1 and ESR2. 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 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 36)

#	Related Disease	Score	Top Affiliating Genes
1	dystonia	29.3	PRKCG PDYN CACNA1A APTX
2	autosomal dominant cerebellar ataxia	29.1	TMEM240 PRKCG PDYN CACNA1A APTX
3	cerebellar disease	29.1	PRKCG PDYN CACNA1A APTX
4	aceruloplasminemia	29.1	PRKCG PDYN CACNA1A APTX
5	hereditary ataxia	28.3	TRPC3 TMEM240 PRKCG PDYN CACNA1A APTX
6	spinocerebellar ataxia, autosomal recessive 14	11.4
7	dystonia 11, myoclonic	11.3
8	ataxia and polyneuropathy, adult-onset	10.4
9	spinocerebellar ataxia 1	10.2	PRKCG CACNA1A
10	focal dystonia	10.1
11	cervical dystonia	10.1
12	retinal degeneration	10.1
13	myoclonus	10.1
14	tremor	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	huntington disease	10.0
28	pathologic nystagmus	10.0
29	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	9.9	CACNA1A APTX
30	mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance	9.9	CACNA1A APTX
31	spinocerebellar ataxia 27	9.9	TMEM240 CACNA1A
32	episodic ataxia, type 2	9.9	PRKCG CACNA1A
33	spinocerebellar ataxia 4	9.8	TMEM240 PDYN
34	spinocerebellar ataxia 23	9.8	TMEM240 PDYN
35	spinocerebellar ataxia 6	9.6	PRKCG PDYN CACNA1A
36	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	9.6	CACNA1A APTX

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysphagia
gait ataxia
dysmetria
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

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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 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, Liver, Skin

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Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

(show top 50) (show all 100)

#	Title	Authors	PMID	Year
1	Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. ⁵⁴ ⁶¹ ²⁴ ⁵⁶ ⁶	Asai H...Ueno S	19561170	2009
2	A Japanese case of SCA14 with the Gly128Asp mutation. ⁵⁴ ⁶¹ ²⁴ ⁵⁶ ⁶	Morita H...Ikeda S	17024314	2006
3	Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. ⁵⁴ ⁶¹ ²⁴ ⁵⁶ ⁶	Verbeek DS...Sinke RJ	15841389	2005
4	Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. ⁵⁴ ⁶¹ ²⁴ ⁵⁶ ⁶	Stevanin G...Durr A	15313841	2004
5	Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. ⁵⁴ ⁶¹ ²⁴ ⁵⁶ ⁶	Yabe I...Tashiro K	14676051	2003
6	Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. ⁶¹ ²⁴ ⁵⁶ ⁶	van de Warrenburg BP...Sinke RJ	14694043	2003
7	A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. ⁶¹ ²⁴ ⁵⁶ ⁶	Brkanac Z...Bird TD	12164726	2002
8	Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. ²⁴ ⁵⁶ ⁶	Chen DH...Raskind WH	12644968	2003
9	New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. ⁵⁴ ⁶¹ ²⁴ ⁵⁶	Klebe S...Stevanin G	16193476	2005
10	The clinical and genetic spectrum of spinocerebellar ataxia 14. ⁵⁴ ⁶¹ ²⁴ ⁶	Chen DH...Bird TD	15824357	2005
11	Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ⁵⁴ ⁶¹ ²⁴ ⁶	Verbeek DS...Howell BW	15618281	2005
12	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. ⁶¹ ²⁴ ⁵⁶	Yamashita I...Tashiro K	10939565	2000
13	A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. ⁵⁴ ⁶¹ ⁶	Alonso I...Silveira I	16189624	2005
14	Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. ⁶¹ ⁵⁶	Sailer A...Houlden H	22675081	2012
15	Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. ⁵⁴ ⁶¹ ²⁴	Miura S...Taniwaki T	18986758	2009
16	PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. ⁵⁴ ⁶¹ ²⁴	Verbeek DS...Reits EA	18577575	2008
17	Protection from ataxia-linked apoptosis by gap junction inhibitors. ⁵⁴ ⁶¹ ²⁴	Lin D...Takemoto DJ	17822669	2007
18	Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. ⁵⁴ ⁶¹ ²⁴	Wieczorek S...Timmann D	17708558	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 ⁶¹ ²⁴	Hiramoto K...Sakai N	16763984	2006
20	Spinocerebellar Ataxia Type 14 ⁶¹ ⁶	Chen DH...Raskind WH	20301573	2005
21	SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. ⁶¹ ²⁴	Koht J...Tallaksen CM	21434874	2012
22	Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo. ⁶¹ ²⁴	Shuvaev AN...Hirai H	21976518	2011
23	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁶	Najmabadi H...Ropers HH	21937992	2011
24	Elucidation of the molecular mechanism and exploration of novel therapeutics for spinocerebellar ataxia caused by mutant protein kinase Cγ. ⁶¹ ²⁴	Seki T...Sakai N	21666345	2011
25	Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. ⁶¹ ²⁴	Yamamoto K...Sakai N	20398063	2010
26	Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. ⁶¹ ²⁴	Foncke EM...Tijssen MA	19913450	2010
27	EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ⁶	Gasser T...EFNS	20050888	2010
28	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
29	Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse. ⁶¹ ²⁴	Zhang Y...Lin D	19056342	2009
30	Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. ⁶¹ ²⁴	Doran G...Talbot K	18503760	2008
31	Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. ⁶¹ ²⁴	Adachi N...Saito N	18499672	2008
32	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
33	Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. ⁵⁶	Klebe S...Durr A	17562946	2007
34	Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. ⁶¹ ²⁴	Basri R...Sasaki H	17805477	2007
35	Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ⁶¹ ²⁴	Nolte D...Muller U	17149711	2007
36	Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. ⁶¹ ²⁴	Dalski A...Zuhlke C	16649092	2006
37	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. ⁶¹ ²⁴	Vlak MH...van de Warrenburg BP	16547918	2006
38	Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. ⁶¹ ²⁴	Seki T...Sakai N	15964845	2005
39	Hereditary Ataxia Overview ⁶	Bird TD	20301317	1998
40	A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. ²⁴	Bassuk AG...El-Shanti HI	18976727	2008
41	Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions. ²⁴	Lin D...Takemoto DJ	17493614	2007
42	PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. ²⁴	Visser JE...van de Warrenburg BP	17343273	2007
43	R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa. ⁵⁴ ⁶¹	Mochizuki H...Sakai N	16828200	2006
44	The different facets of protein kinases C: old and new players in neuronal signal transduction pathways. ²⁴	Amadio M...Pascale A	16996748	2006
45	Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. ²⁴	Fahey MC...Storey E	16291902	2005
46	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. ⁵⁴ ⁶¹	Brusco A...Taroni F	15148151	2004
47	Peripheral nerve involvement in spinocerebellar ataxias. ²⁴	van de Warrenburg BP...Kremer BP	14967775	2004
48	Altered dendritic development of cerebellar Purkinje cells in slice cultures from protein kinase Cgamma-deficient mice. ²⁴	Schrenk K...Metzger F	11934475	2002
49	The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. ²⁴	Moreira MC...Koenig M	11586300	2001
50	A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). ²⁴	Vithana EN...Bhattacharya SS	11545739	2001

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Genes for Spinocerebellar Ataxia 14

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

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRKCG	Protein Kinase C Gamma	Protein Coding	1711.05	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)	15841389 16189624 15824357 (more) 21937992 15313841 12164726 20301573 14676051 12644968 20301317 20050888 19561170 14694043 15618281 17024314 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	5.9	DISEASES inferred ¹⁵
3	MARCKS	Myristoylated Alanine Rich Protein Kinase C Substrate	Protein Coding	5.83	DISEASES inferred ¹⁵
4	VSTM2L	V-Set And Transmembrane Domain Containing 2 Like	Protein Coding	5.52	DISEASES inferred ¹⁵
5	APTX	Aprataxin	Protein Coding	5.36	DISEASES inferred ¹⁵
6	SGSM1	Small G Protein Signaling Modulator 1	Protein Coding	5.29	DISEASES inferred ¹⁵
7	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	5.23	DISEASES inferred ¹⁵
8	TMEM240	Transmembrane Protein 240	Protein Coding	5.2	DISEASES inferred ¹⁵
9	PDYN	Prodynorphin	Protein Coding	5.18	DISEASES inferred ¹⁵
10	CYS1	Cystin 1	Protein Coding	5.08	DISEASES inferred ¹⁵
11	PAWR	Pro-Apoptotic WT1 Regulator	Protein Coding	5.06	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 14

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

⁶ (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.188G>T (p.Gly63Val)	SNV	Pathogenic	42140	rs386134159	19:54386434-54386434	19:53883180-53883180
13	PRKCG	NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)	SNV	Pathogenic	42129	rs386134171	19:54401351-54401351	19:53898097-53898097
14	PRKCG	NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)	SNV	Pathogenic	42132	rs386134158	19:54385870-54385870	19:53882616-53882616
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.197G>A (p.Cys66Tyr)	SNV	Likely pathogenic	436421	rs1555806333	19:54386443-54386443	19:53883189-53883189
26	PRKCG	NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)	SNV	Likely pathogenic	617542	rs1303074743	19:54409689-54409689	19:53906435-53906435
27	PRKCG	NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)	SNV	Likely pathogenic	804156		19:54392973-54392973	19:53889719-53889719
28	PRKCG	NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)	SNV	Likely pathogenic	804150		19:54392985-54392985	19:53889731-53889731
29	PRKCG	NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)	SNV	Likely pathogenic	211956	rs797045900	19:54385902-54385902	19:53882648-53882648
30	PRKCG	NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)	SNV	Likely pathogenic	42163	rs386134163	19:54392962-54392962	19:53889708-53889708
31	PRKCG	NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)	SNV	Conflicting interpretations of pathogenicity	42145	rs78437096	19:54410130-54410130	19:53906876-53906876
32	PRKCG	NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)	SNV	Conflicting interpretations of pathogenicity	804155		19:54387442-54387442	19:53884188-53884188
33	PRKCG	NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)	SNV	Uncertain significance	518305	rs1471641294	19:54395791-54395791	19:53892537-53892537
34	PRKCG	NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)	SNV	Uncertain significance	518306	rs143513754	19:54407979-54407979	19:53904725-53904725
35	PRKCG	NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)	SNV	Uncertain significance	42167	rs386134167	19:54392998-54392998	19:53889744-53889744
36	PRKCG	NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)	SNV	Benign/Likely benign	330065	rs35079513	19:54403703-54403703	19:53900449-53900449
37	PRKCG	NM_002739.5(PRKCG):c.207C>T (p.Cys69=)	SNV	Benign/Likely benign	330057	rs307955	19:54387419-54387419	19:53884165-53884165
38	PRKCG	NM_002739.5(PRKCG):c.285C>T (p.Asp95=)	SNV	Benign/Likely benign	330058	rs17854523	19:54387497-54387497	19:53884243-53884243
39	PRKCG	NM_002739.5(PRKCG):c.567T>C (p.Asn189=)	SNV	Benign	130036	rs3745406	19:54394965-54394965	19:53891711-53891711
40	PRKCG	NM_002739.5(PRKCG):c.72C>T (p.Ala24=)	SNV	Benign	130037	rs2547362	19:54385820-54385820	19:53882566-53882566
41	PRKCG	NM_002739.5(PRKCG):c.686+14G>T	SNV	Benign	330063	rs3745405	19:54395098-54395098	19:53891844-53891844

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	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	11.49	PRKCG PAWR CACNA1A
2	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	11.12	PRKCG PDYN CACNA1A
3	Long-term depression ³⁶	10.93	PRKCG CACNA1A

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	9.56	VSTM2L TRPC3 PRKCG PDYN PAWR MARCKS
2	synaptic membrane	GO:0097060	8.62	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	9.33	PRKCG PDYN CACNA1A
2	actin filament bundle assembly	GO:0051017	9.26	PAWR MARCKS
3	response to pain	GO:0048265	8.96	PRKCG CACNA1A
4	negative regulation of neuron apoptotic process	GO:0043524	8.8	VSTM2L PRKCG CACNA1A

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

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¹⁹ FMA

²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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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

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⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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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:

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