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

SCA14 MCID: SPN312 MIFTS: 51	Spinocerebellar Ataxia 14 (SCA14) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 ⁵⁷ ⁵³ ⁷⁴ ²⁹ ¹³ ⁶ ⁷²

Sca14 ⁵⁷ ²⁴ ⁵³ ⁵⁹ ⁷⁴ ⁵⁵

Spinocerebellar Ataxia Type 14 ¹² ²⁴ ⁵³ ⁵⁹ ¹⁵

Ataxia, Spinocerebellar, Type 14 ⁴⁰

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

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

Inheritance:
autosomal dominant

HPO:

³²

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 Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Late-onset cerebellar ataxia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050964

OMIM ⁵⁷ 605361 PS164400

MeSH ⁴⁴ D020754

MESH via Orphanet ⁴⁵ C537196

ICD10 via Orphanet ³⁴ G11.2

UMLS via Orphanet ⁷³ C1854369

Orphanet ⁵⁹ ORPHA98763

MedGen ⁴² C1854369

UMLS ⁷² C1854369

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Summaries for Spinocerebellar Ataxia 14

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98763DefinitionSpinocerebellar 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.EpidemiologyThe disease has been reported in more than twenty families from Europe, the United States, and Australia.Clinical descriptionOnset 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.EtiologySCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma).PrognosisPrognosis 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 cerebellar disease and aceruloplasminemia, 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 Nanog in Mammalian ESC Pluripotency and Allograft rejection. 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 : ⁷⁴ 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 2 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2	Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4	Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14	Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17	Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19	Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18	Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20	Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26	Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23	Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8	Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30	Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35	Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36	Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12	Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14	Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16	Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38	Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17	Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20	Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21	Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22	Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43	Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25	Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44	Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46	Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48	Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22	Spinocerebellar Ataxia Autosomal Recessive 5

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

(show all 30)

#	Related Disease	Score	Top Affiliating Genes
1	cerebellar disease	30.3	PRKCG ITPR1 APTX
2	aceruloplasminemia	30.2	PRKCG ITPR1 APTX
3	spinocerebellar ataxia, autosomal recessive 14	11.4
4	dystonia 11, myoclonic	11.3
5	ataxia and polyneuropathy, adult-onset	10.4
6	autosomal dominant cerebellar ataxia	10.4
7	dystonia	10.3
8	spinocerebellar ataxia 10	10.1
9	focal dystonia	10.1
10	cervical dystonia	10.1
11	hereditary ataxia	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	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	10.0	ITPR1 APTX
30	hypomyelinating leukoencephalopathy	9.5	HSPA4 GJA1

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:

⁵⁹ ³² (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	gait ataxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002066
2	generalized hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001290
3	limb ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002070
4	progressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002073
5	cerebellar vermis atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006855
6	abnormality of the achilles tendon ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005109
7	dysarthria ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001260
8	tremor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001337
9	cognitive impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100543
10	myoclonus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001336
11	rigidity ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002063
12	saccadic smooth pursuit ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001152
13	sensory impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003474
14	gaze-evoked nystagmus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000640
15	hyporeflexia of lower limbs ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002600
16	nystagmus ³²			HP:0000639
17	depressivity ³²			HP:0000716
18	hyperreflexia ³²			HP:0001347
19	dysphagia ³²			HP:0002015
20	memory impairment ³²			HP:0002354
21	attention deficit hyperactivity disorder ³²			HP:0007018
22	dysmetria ³²			HP:0001310
23	mental deterioration ³²			HP:0001268
24	cerebellar atrophy ³²			HP:0001272
25	focal dystonia ³²			HP:0004373
26	facial myokymia ³²			HP:0000317
27	impaired vibration sensation at ankles ³²			HP:0006938

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
eye movement abnormalities
saccadic intrusions

Head And Neck Face:
facial myokymia

Neurologic Peripheral Nervous System:
decreased vibration sense at ankles

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

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

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 14:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.22	ATG5 CASP3 CKAP5 DDIT3 EIF2AK3 GJA1
2	cellular	MP:0005384	10.11	APTX ATG5 CASP3 DDIT3 EIF2AK3 GJA1
3	growth/size/body region	MP:0005378	10	ATG5 CASP3 CKAP5 DDIT3 EIF2AK3 GJA1
4	endocrine/exocrine gland	MP:0005379	9.92	ATG5 CASP3 DDIT3 EIF2AK3 GJA1 HSP90AA1
5	immune system	MP:0005387	9.81	ATG5 CASP3 DDIT3 EIF2AK3 GJA1 HSP90AA1
6	mortality/aging	MP:0010768	9.7	ATG5 CASP3 CKAP5 EIF2AK3 GJA1 HSP90AA1
7	nervous system	MP:0003631	9.44	ATG5 CASP3 CKAP5 DDIT3 EIF2AK3 GJA1

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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:

⁴¹

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 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. ⁹ ³⁸ ⁴ ⁸ ⁷¹	Asai H...Ueno S	19561170	2009
2	A Japanese case of SCA14 with the Gly128Asp mutation. ⁹ ³⁸ ⁴ ⁸ ⁷¹	Morita H...Ikeda S	17024314	2006
3	Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. ⁹ ³⁸ ⁴ ⁸ ⁷¹	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. ⁹ ³⁸ ⁴ ⁸ ⁷¹	Stevanin G...Durr A	15313841	2004
5	Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. ⁹ ³⁸ ⁴ ⁸ ⁷¹	Yabe I...Tashiro K	14676051	2003
6	Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. ³⁸ ⁴ ⁸ ⁷¹	van de Warrenburg BP...Sinke RJ	14694043	2003
7	A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. ³⁸ ⁴ ⁸ ⁷¹	Brkanac Z...Bird TD	12164726	2002
8	Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. ⁴ ⁸ ⁷¹	Chen DH...Raskind WH	12644968	2003
9	New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. ⁹ ³⁸ ⁴ ⁸	Klebe S...Stevanin G	16193476	2005
10	The clinical and genetic spectrum of spinocerebellar ataxia 14. ⁹ ³⁸ ⁴ ⁷¹	Chen DH...Bird TD	15824357	2005
11	Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ⁹ ³⁸ ⁴ ⁷¹	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. ³⁸ ⁴ ⁸	Yamashita I...Tashiro K	10939565	2000
13	A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. ⁹ ³⁸ ⁷¹	Alonso I...Silveira I	16189624	2005
14	Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. ³⁸ ⁸	Sailer A...Houlden H	22675081	2012
15	Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. ⁹ ³⁸ ⁴	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. ⁹ ³⁸ ⁴	Verbeek DS...Reits EA	18577575	2008
17	Protection from ataxia-linked apoptosis by gap junction inhibitors. ⁹ ³⁸ ⁴	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. ⁹ ³⁸ ⁴	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. ⁹ ³⁸ ⁴	Hiramoto K...Sakai N	16763984	2006
20	Spinocerebellar Ataxia Type 14 ³⁸ ⁷¹	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. ³⁸ ⁴	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. ³⁸ ⁴	Shuvaev AN...Hirai H	21976518	2011
23	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁷¹	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. ³⁸ ⁴	Seki T...Sakai N	21666345	2011
25	Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. ³⁸ ⁴	Foncke EM...Tijssen MA	19913450	2010
26	Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. ³⁸ ⁴	Yamamoto K...Sakai N	20398063	2010
27	EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ⁷¹	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. ³⁸ ⁴	Seki T...Sakai N	19041943	2009
29	Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse. ³⁸ ⁴	Zhang Y...Lin D	19056342	2009
30	Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. ³⁸ ⁴	Doran G...Talbot K	18503760	2008
31	Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. ³⁸ ⁴	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. ³⁸ ⁴	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. ⁸	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. ³⁸ ⁴	Basri R...Sasaki H	17805477	2007
35	Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ³⁸ ⁴	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. ³⁸ ⁴	Dalski A...Zuhlke C	16649092	2006
37	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. ³⁸ ⁴	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. ³⁸ ⁴	Seki T...Sakai N	15964845	2005
39	Hereditary Ataxia Overview ⁷¹	Bird TD	20301317	1998
40	A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. ⁴	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. ⁴	Lin D...Takemoto DJ	17493614	2007
42	PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. ⁴	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. ⁹ ³⁸	Mochizuki H...Sakai N	16828200	2006
44	The different facets of protein kinases C: old and new players in neuronal signal transduction pathways. ⁴	Amadio M...Pascale A	16996748	2006
45	Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. ⁴	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. ⁹ ³⁸	Brusco A...Taroni F	15148151	2004
47	Peripheral nerve involvement in spinocerebellar ataxias. ⁴	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. ⁴	Schrenk K...Metzger F	11934475	2002
49	The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. ⁴	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). ⁴	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 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRKCG	Protein Kinase C Gamma	Protein Coding	1721.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	15824357 15841389 16189624 (more) 12644968 15618281 20301573 20301317 15313841 12164726 14676051 19561170 20050888 17024314 14694043 21937992 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	15.52	DISEASES inferred ¹⁵
3	EEA1	Early Endosome Antigen 1	Protein Coding	14.76	DISEASES inferred ¹⁵
4	APTX	Aprataxin	Protein Coding	14.67	DISEASES inferred ¹⁵
5	SGCE	Sarcoglycan Epsilon	Protein Coding	14.42	DISEASES inferred ¹⁵
6	GJA8	Gap Junction Protein Alpha 8	Protein Coding	14.18	DISEASES inferred ¹⁵
7	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	14.18	DISEASES inferred ¹⁵
8	EIF2AK3	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3	Protein Coding	14.02	DISEASES inferred ¹⁵
9	CASP3	Caspase 3	Protein Coding	13.69	DISEASES inferred ¹⁵
10	ATG5	Autophagy Related 5	Protein Coding	13.49	DISEASES inferred ¹⁵
11	GJA1	Gap Junction Protein Alpha 1	Protein Coding	13.21	DISEASES inferred ¹⁵
12	HSPA5	Heat Shock Protein Family A (Hsp70) Member 5	Protein Coding	13.09	DISEASES inferred ¹⁵
13	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	12.91	DISEASES inferred ¹⁵
14	SLC17A6	Solute Carrier Family 17 Member 6	Protein Coding	4.76	DISEASES inferred ¹⁵
15	MARCKS	Myristoylated Alanine Rich Protein Kinase C Substrate	Protein Coding	4.47	DISEASES inferred ¹⁵
16	CKAP5	Cytoskeleton Associated Protein 5	Protein Coding	4.29	DISEASES inferred ¹⁵
17	HSPA4	Heat Shock Protein Family A (Hsp70) Member 4	Protein Coding	3.77	DISEASES inferred ¹⁵
18	DDIT3	DNA Damage Inducible Transcript 3	Protein Coding	3.35	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 14

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

⁶ (show all 38)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	PRKCG	NM_002739.5(PRKCG): c.301C> T (p.His101Tyr)	single nucleotide variant	Pathogenic	rs121918511	19:54392907-54392907	19:53889653-53889653
2	PRKCG	NM_002739.5(PRKCG): c.355T> C (p.Ser119Pro)	single nucleotide variant	Pathogenic	rs121918512	19:54392961-54392961	19:53889707-53889707
3	PRKCG	NM_002739.5(PRKCG): c.383G> A (p.Gly128Asp)	single nucleotide variant	Pathogenic	rs121918513	19:54392989-54392989	19:53889735-53889735
4	PRKCG	NM_002739.5(PRKCG): c.353G> A (p.Gly118Asp)	single nucleotide variant	Pathogenic	rs121918514	19:54392959-54392959	19:53889705-53889705
5	PRKCG	NM_002739.5(PRKCG): c.380A> G (p.Gln127Arg)	single nucleotide variant	Pathogenic	rs121918515	19:54392986-54392986	19:53889732-53889732
6	PRKCG	NM_002739.5(PRKCG): c.1927T> C (p.Phe643Leu)	single nucleotide variant	Pathogenic	rs121918516	19:54409982-54409982	19:53906728-53906728
7	PRKCG	NM_002739.5(PRKCG): c.1081A> G (p.Ser361Gly)	single nucleotide variant	Pathogenic	rs121918517	19:54401354-54401354	19:53898100-53898100
8	PRKCG	NM_002739.5(PRKCG): c.303C> G (p.His101Gln)	single nucleotide variant	Pathogenic	rs121918518	19:54392909-54392909	19:53889655-53889655
9	PRKCG	NM_002739.5(PRKCG): c.2091_*98del (p.Met697_Ter698delinsXaa)	deletion	Pathogenic	rs1555808841	19:54410146-54410247	19:53906892-53906993
10	PRKCG	NM_002739.3(PRKCG): c.530_919del	deletion	Pathogenic
11	PRKCG	NM_002739.5(PRKCG): c.1438G> T (p.Asp480Tyr)	single nucleotide variant	Pathogenic	rs387906679	19:54403866-54403866	19:53900612-53900612
12	PRKCG	NM_002739.5(PRKCG): c.300_305del (p.His101_Lys102del)	deletion	Pathogenic	rs386134161	19:54392902-54392907	19:53889648-53889653
13	PRKCG	NM_002739.5(PRKCG): c.341G> A (p.Cys114Tyr)	single nucleotide variant	Pathogenic	rs386134162	19:54392947-54392947	19:53889693-53889693
14	PRKCG	NM_002739.5(PRKCG): c.229T> A (p.Cys77Ser)	single nucleotide variant	Pathogenic	rs386134160	19:54387441-54387441	19:53884187-53884187
15	PRKCG	NM_002739.5(PRKCG): c.391T> C (p.Cys131Arg)	single nucleotide variant	Pathogenic	rs386134166	19:54392997-54392997	19:53889743-53889743
16	PRKCG	NM_002739.5(PRKCG): c.392G> A (p.Cys131Tyr)	single nucleotide variant	Pathogenic	rs386134167	19:54392998-54392998	19:53889744-53889744
17	PRKCG	NM_002739.5(PRKCG): c.413T> A (p.Val138Glu)	single nucleotide variant	Pathogenic	rs386134168	19:54393155-54393155	19:53889901-53889901
18	PRKCG	NM_002739.5(PRKCG): c.449_450delinsTT (p.Cys150Phe)	indel	Pathogenic	rs386134170	19:54393191-54393192	19:53889937-53889938
19	PRKCG	NM_002739.5(PRKCG): c.417C> A (p.His139Gln)	single nucleotide variant	Pathogenic	rs386134169	19:54393159-54393159	19:53889905-53889905
20	PRKCG	NM_002739.5(PRKCG): c.76A> G (p.Arg26Gly)	single nucleotide variant	Pathogenic	rs386134157	19:54385824-54385824	19:53882570-53882570
21	PRKCG	NM_002739.5(PRKCG): c.367G> A (p.Gly123Arg)	single nucleotide variant	Pathogenic	rs386134164	19:54392973-54392973	19:53889719-53889719
22	PRKCG	NM_002739.5(PRKCG): c.368G> A (p.Gly123Glu)	single nucleotide variant	Pathogenic	rs386134165	19:54392974-54392974	19:53889720-53889720
23	PRKCG	NM_002739.5(PRKCG): c.188G> T (p.Gly63Val)	single nucleotide variant	Pathogenic	rs386134159	19:54386434-54386434	19:53883180-53883180
24	PRKCG	NM_002739.5(PRKCG): c.1078G> A (p.Gly360Ser)	single nucleotide variant	Pathogenic	rs386134171	19:54401351-54401351	19:53898097-53898097
25	PRKCG	NM_002739.5(PRKCG): c.122G> C (p.Arg41Pro)	single nucleotide variant	Pathogenic	rs386134158	19:54385870-54385870	19:53882616-53882616
26	PRKCG	NM_002739.5(PRKCG): c.197G> A (p.Cys66Tyr)	single nucleotide variant	Likely pathogenic	rs1555806333	19:54386443-54386443	19:53883189-53883189
27	PRKCG	NM_002739.5(PRKCG): c.154T> A (p.Cys52Ser)	single nucleotide variant	Likely pathogenic	rs797045900	19:54385902-54385902	19:53882648-53882648
28	PRKCG	NM_002739.5(PRKCG): c.1883C> T (p.Pro628Leu)	single nucleotide variant	Likely pathogenic		19:54409689-54409689	19:53906435-53906435
29	PRKCG	NM_002739.5(PRKCG): c.356C> T (p.Ser119Phe)	single nucleotide variant	Likely pathogenic	rs386134163	19:54392962-54392962	19:53889708-53889708
30	PRKCG	NM_002739.5(PRKCG): c.2075T> G (p.Val692Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs78437096	19:54410130-54410130	19:53906876-53906876
31	PRKCG	NM_002739.5(PRKCG): c.715C> T (p.Arg239Trp)	single nucleotide variant	Uncertain significance	rs1471641294	19:54395791-54395791	19:53892537-53892537
32	PRKCG	NM_002739.5(PRKCG): c.1747G> A (p.Val583Met)	single nucleotide variant	Uncertain significance	rs143513754	19:54407979-54407979	19:53904725-53904725
33	PRKCG	NM_002739.5(PRKCG): c.285C> T (p.Asp95=)	single nucleotide variant	Benign/Likely benign	rs17854523	19:54387497-54387497	19:53884243-53884243
34	PRKCG	NM_002739.5(PRKCG): c.1404C> G (p.Leu468=)	single nucleotide variant	Benign/Likely benign	rs35079513	19:54403703-54403703	19:53900449-53900449
35	PRKCG	NM_002739.5(PRKCG): c.207C> T (p.Cys69=)	single nucleotide variant	Benign/Likely benign	rs307955	19:54387419-54387419	19:53884165-53884165
36	PRKCG	NM_002739.5(PRKCG): c.686+14G> T	single nucleotide variant	Benign	rs3745405	19:54395098-54395098	19:53891844-53891844
37	PRKCG	NM_002739.5(PRKCG): c.567T> C (p.Asn189=)	single nucleotide variant	Benign	rs3745406	19:54394965-54394965	19:53891711-53891711
38	PRKCG	NM_002739.5(PRKCG): c.72C> T (p.Ala24=)	single nucleotide variant	Benign	rs2547362	19:54385820-54385820	19:53882566-53882566

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

⁷⁴

#	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:

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.05	PRKCG ITPR1 HSPA4 HSP90AA1 EIF2AK3 CASP3
2	Allograft rejection ³⁷ ¹ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.62	ITPR1 HSPA5 HSPA4 HSP90AA1 CASP3
3	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁷ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.5	ITPR1 HSP90AA1 EIF2AK3 DDIT3 CASP3
4	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.29	PRKCG ITPR1 GJA8 GJA1
5	Autophagy - animal ³⁷	11.86	ITPR1 EIF2AK3 ATG5
6	Ca, cAMP and Lipid Signaling ⁴	11.82	PRKCG MARCKS ITPR1
7	Serotonergic synapse ³⁷	11.75	PRKCG ITPR1 CASP3
8	Protein processing in endoplasmic reticulum ³⁷	11.67	HSPA5 HSP90AA1 EIF2AK3 DDIT3
9	Corticotropin-releasing hormone signaling pathway ¹	11.6	HSP90AA1 GJA1 CASP3
10	Gap junction ³⁷	11.55	PRKCG ITPR1 GJA1
11	Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) ²² Show member pathways CFTR folding and maturation (norm and CF) ²²	11.27	HSPA5 HSPA4 HSP90AA1
12	PERK regulates gene expression ⁶⁶ Show member pathways ATF4 activates genes ⁶⁶	11.19	HSPA5 EIF2AK3 DDIT3
13	Development_Glucocorticoid receptor signaling ²²	10.74	HSPA5 HSPA4 HSP90AA1
14	Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics ⁶¹	10.37	HSPA4 HSP90AA1
15	Photodynamic therapy-induced unfolded protein response ¹	10.26	HSPA5 EIF2AK3 DDIT3

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	membrane	GO:0016020	9.8	TRPC3 SLC17A6 SGCE PRKCG MARCKS ITPR1
2	protein-containing complex	GO:0032991	9.55	ITPR1 HSPA5 HSP90AA1 GJA1 CKAP5
3	cytoplasm	GO:0005737	9.5	SGCE PRKCG MARCKS ITPR1 HSPA5 HSPA4
4	connexin complex	GO:0005922	9.26	GJA8 GJA1

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	apoptotic process	GO:0006915	9.92	ITPR1 GJA1 DDIT3 CASP3 ATG5
2	transmembrane transport	GO:0055085	9.88	TRPC3 SLC17A6 ITPR1 GJA8 GJA1
3	platelet activation	GO:0030168	9.67	TRPC3 PRKCG ITPR1
4	response to endoplasmic reticulum stress	GO:0034976	9.61	HSPA5 EIF2AK3 DDIT3
5	protein refolding	GO:0042026	9.54	HSPA5 HSP90AA1
6	endoplasmic reticulum unfolded protein response	GO:0030968	9.54	HSPA5 EIF2AK3 DDIT3
7	chaperone-mediated protein complex assembly	GO:0051131	9.51	HSPA4 HSP90AA1
8	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	GO:1990440	9.46	HSPA5 DDIT3
9	ATF6-mediated unfolded protein response	GO:0036500	9.4	HSPA5 DDIT3
10	PERK-mediated unfolded protein response	GO:0036499	9.33	HSPA5 EIF2AK3 DDIT3
11	protein import into mitochondrial outer membrane	GO:0045040	9.32	HSPA4 HSP90AA1
12	luteolysis	GO:0001554	9.26	HSPA5 CASP3
13	ER overload response	GO:0006983	9.13	HSPA5 EIF2AK3 DDIT3
14	response to unfolded protein	GO:0006986	9.02	HSPA5 HSPA4 HSP90AA1 EIF2AK3 DDIT3

Molecular functions related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein tyrosine kinase binding	GO:1990782	9.26	HSP90AA1 GJA1
2	ATPase activity, coupled	GO:0042623	9.16	HSPA5 HSP90AA1
3	gap junction channel activity	GO:0005243	8.96	GJA8 GJA1
4	inositol 1,4,5 trisphosphate binding	GO:0070679	8.62	TRPC3 ITPR1

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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 2 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:

MGI Mouse Phenotypes 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

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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:

Molecular functions related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

Sources for Spinocerebellar Ataxia 14