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

SCA14 MCID: SPN312 MIFTS: 48	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 ⁵⁸ ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Sca14 ⁵⁸ ²⁵ ⁵⁴ ⁶⁰ ⁷⁶ ⁵⁶

Spinocerebellar Ataxia Type 14 ¹² ²⁵ ⁵⁴ ⁶⁰ ¹⁵

Ataxia, Spinocerebellar, Type 14 ⁴¹

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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

GeneReviews:

²⁵

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 Skin diseases Eye diseases Liver diseases Mental diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Late-onset cerebellar ataxia

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050964

OMIM ⁵⁸ 605361

MeSH ⁴⁵ D020754

MESH via Orphanet ⁴⁶ C537196

ICD10 via Orphanet ³⁵ G11.2

UMLS via Orphanet ⁷⁵ C1854369

Orphanet ⁶⁰ ORPHA98763

MedGen ⁴³ C1854369

UMLS ⁷⁴ C1854369

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Summaries for Spinocerebellar Ataxia 14

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98763Disease definitionSpinocerebellar 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 aceruloplasminemia and spinocerebellar ataxia, autosomal recessive 14, 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 MAPK signaling pathway and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are gait ataxia and limb ataxia

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 : ⁷⁶ 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).

Description from OMIM: 605361

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	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 13)

#	Related Disease	Score	Top Affiliating Genes
1	aceruloplasminemia	30.7	APTX ITPR1 PRKCG
2	spinocerebellar ataxia, autosomal recessive 14	11.3
3	dystonia 11, myoclonic	11.1
4	autosomal dominant cerebellar ataxia	10.4
5	ataxia and polyneuropathy, adult-onset	10.3
6	dystonia	10.2
7	depression	10.1
8	myoclonus	10.1
9	tremor	10.1
10	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	10.1	APTX ITPR1
11	cerebellar disease	10.1	APTX ITPR1 PRKCG
12	hypomyelinating leukoencephalopathy	9.7	GJA1 HSPA4
13	ischemia	9.3	CASP3 GJA1 HSPA4

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:

⁶⁰ ³³ (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	gait ataxia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002066
2	limb ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002070
3	progressive cerebellar ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002073
4	cerebellar vermis atrophy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0006855
5	generalized hypotonia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001290
6	abnormality of the achilles tendon ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005109
7	dysarthria ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001260
8	tremor ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001337
9	cognitive impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0100543
10	myoclonus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001336
11	rigidity ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002063
12	saccadic smooth pursuit ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001152
13	sensory impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0003474
14	gaze-evoked nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000640
15	hyporeflexia of lower limbs ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002600
16	nystagmus ³³			HP:0000639
17	depressivity ³³			HP:0000716
18	hyperreflexia ³³			HP:0001347
19	dysphagia ³³			HP:0002015
20	attention deficit hyperactivity disorder ³³			HP:0007018
21	dysmetria ³³			HP:0001310
22	memory impairment ³³			HP:0002354
23	mental deterioration ³³			HP:0001268
24	cerebellar atrophy ³³			HP:0001272
25	focal dystonia ³³			HP:0004373
26	facial myokymia ³³			HP:0000317
27	impaired vibration sensation at ankles ³³			HP:0006938

Symptoms via clinical synopsis from OMIM:

⁵⁸

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:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.85	ATG5 CASP3 DDIT3 GJA1 HSPA4 ITPR1
2	cellular	MP:0005384	9.61	APTX ATG5 CASP3 DDIT3 GJA1 HSPA4
3	nervous system	MP:0003631	9.36	ATG5 CASP3 DDIT3 GJA1 HSPA4 HSPA5

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Drugs & Therapeutics for Spinocerebellar Ataxia 14

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search 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 ³⁰	PRKCG

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Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

⁴²

Eye, Spinal Cord, Cerebellum, Skin, Liver

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Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

(show all 32)

#	Title	Authors	Year
1	Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. ( 30249303 )	Wong MMK...Becker EBE	2018
2	Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14. ( 28738819 )	Shimobayashi E...Kapfhammer JP	2017
3	Writer's Cramp as the First Symptom of Spinocerebellar Ataxia 14. ( 30363848 )	Erro R...Foltynie T	2015
4	Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein. ( 25217572 )	Takahashi H...Saito N	2015
5	Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. ( 24937631 )	Ji J...Kapfhammer JP	2014
6	SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization. ( 24134140 )	Jezierska J...Verbeek DS	2014
7	A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia. ( 23853068 )	van Gaalen J...Dooijes D	2013
8	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. ( 24289098 )	Wedding IM...Tallaksen CM	2013
9	SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. ( 21434874 )	Koht J...Tallaksen CM	2012
10	Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. ( 22675081 )	Sailer A...Houlden H	2012
11	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )	Najmabadi H...Ropers HH	2011
12	Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. ( 20398063 )	Yamamoto K...Sakai N	2010
13	Congo red, an amyloid-inhibiting compound, alleviates various types of cellular dysfunction triggered by mutant protein kinase cγ that causes spinocerebellar ataxia type 14 (SCA14) by inhibiting oligomerization and aggregation. ( 20938103 )	Seki T...Sakai N	2010
14	EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )	Gasser T...EFNS	2010
15	Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. ( 18986758 )	Miura S...Taniwaki T	2009
16	Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. ( 19561170 )	Asai H...Ueno S	2009
17	Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. ( 17149711 )	Nolte D...M?ller U	2007
18	Codon 101 of PRKCG, a preferential mutation site in SCA14. ( 17659643 )	Nolte D...M?ller U	2007
19	Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. ( 17708558 )	Wieczorek S...Timmann D	2007
20	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. ( 16547918 )	Vlak MH...van de Warrenburg BP	2006
21	Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. ( 16649092 )	Dalski A...Z?hlke C	2006
22	A Japanese case of SCA14 with the Gly128Asp mutation. ( 17024314 )	Morita H...Ikeda S	2006
23	Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. ( 15618281 )	Verbeek DS...Howell BW	2005
24	The clinical and genetic spectrum of spinocerebellar ataxia 14. ( 15824357 )	Chen DH...Bird TD	2005
25	Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. ( 15841389 )	Verbeek DS...Sinke RJ	2005
26	A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. ( 16189624 )	Alonso I...Silveira I	2005
27	Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. ( 15313841 )	Stevanin G...Durr A	2004
28	Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. ( 14694043 )	van de Warrenburg BP...Sinke RJ	2003
29	Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. ( 12644968 )	Chen DH...Raskind WH	2003
30	Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. ( 14676051 )	Yabe I...Tashiro K	2003
31	A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. ( 12164726 )	Brkanac Z...Bird TD	2002
32	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. ( 10939565 )	Yamashita I...Tashiro K	2000

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Genes for Spinocerebellar Ataxia 14

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

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRKCG	Protein Kinase C Gamma	Protein Coding	1721.14	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	21937992 20301573 20301317 (more) 20050888 12164726 12644968 17024314 14694043 15841389 15618281 14676051 15313841 15824357 16189624 19561170 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	15.56	DISEASES inferred ¹⁵
3	EEA1	Early Endosome Antigen 1	Protein Coding	14.79	DISEASES inferred ¹⁵
4	APTX	Aprataxin	Protein Coding	14.71	DISEASES inferred ¹⁵
5	SGCE	Sarcoglycan Epsilon	Protein Coding	14.47	DISEASES inferred ¹⁵
6	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	14.26	DISEASES inferred ¹⁵
7	GJA8	Gap Junction Protein Alpha 8	Protein Coding	14.24	DISEASES inferred ¹⁵
8	ATG5	Autophagy Related 5	Protein Coding	13.53	DISEASES inferred ¹⁵
9	CASP3	Caspase 3	Protein Coding	13.33	DISEASES inferred ¹⁵
10	GJA1	Gap Junction Protein Alpha 1	Protein Coding	13.25	DISEASES inferred ¹⁵
11	HSPA5	Heat Shock Protein Family A (Hsp70) Member 5	Protein Coding	13.13	DISEASES inferred ¹⁵
12	SLC17A6	Solute Carrier Family 17 Member 6	Protein Coding	4.82	DISEASES inferred ¹⁵
13	MARCKS	Myristoylated Alanine Rich Protein Kinase C Substrate	Protein Coding	4.52	DISEASES inferred ¹⁵
14	HSPA4	Heat Shock Protein Family A (Hsp70) Member 4	Protein Coding	3.81	DISEASES inferred ¹⁵
15	DDIT3	DNA Damage Inducible Transcript 3	Protein Coding	3.38	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 14

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

⁷⁶

#	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

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

⁶ (show top 50) (show all 73)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PRKCG	NM_002739.4(PRKCG): c.301C> T (p.His101Tyr)	single nucleotide variant	Pathogenic	rs121918511	GRCh37	Chromosome 19, 54392907: 54392907
2	PRKCG	NM_002739.4(PRKCG): c.301C> T (p.His101Tyr)	single nucleotide variant	Pathogenic	rs121918511	GRCh38	Chromosome 19, 53889653: 53889653
3	PRKCG	NM_002739.4(PRKCG): c.355T> C (p.Ser119Pro)	single nucleotide variant	Pathogenic	rs121918512	GRCh37	Chromosome 19, 54392961: 54392961
4	PRKCG	NM_002739.4(PRKCG): c.355T> C (p.Ser119Pro)	single nucleotide variant	Pathogenic	rs121918512	GRCh38	Chromosome 19, 53889707: 53889707
5	PRKCG	NM_002739.4(PRKCG): c.383G> A (p.Gly128Asp)	single nucleotide variant	Pathogenic	rs121918513	GRCh37	Chromosome 19, 54392989: 54392989
6	PRKCG	NM_002739.4(PRKCG): c.383G> A (p.Gly128Asp)	single nucleotide variant	Pathogenic	rs121918513	GRCh38	Chromosome 19, 53889735: 53889735
7	PRKCG	NM_002739.4(PRKCG): c.353G> A (p.Gly118Asp)	single nucleotide variant	Pathogenic	rs121918514	GRCh37	Chromosome 19, 54392959: 54392959
8	PRKCG	NM_002739.4(PRKCG): c.353G> A (p.Gly118Asp)	single nucleotide variant	Pathogenic	rs121918514	GRCh38	Chromosome 19, 53889705: 53889705
9	PRKCG	NM_002739.4(PRKCG): c.380A> G (p.Gln127Arg)	single nucleotide variant	Pathogenic	rs121918515	GRCh37	Chromosome 19, 54392986: 54392986
10	PRKCG	NM_002739.4(PRKCG): c.380A> G (p.Gln127Arg)	single nucleotide variant	Pathogenic	rs121918515	GRCh38	Chromosome 19, 53889732: 53889732
11	PRKCG	NM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu)	single nucleotide variant	Pathogenic	rs121918516	GRCh37	Chromosome 19, 54409982: 54409982
12	PRKCG	NM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu)	single nucleotide variant	Pathogenic	rs121918516	GRCh38	Chromosome 19, 53906728: 53906728
13	PRKCG	NM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly)	single nucleotide variant	Pathogenic	rs121918517	GRCh37	Chromosome 19, 54401354: 54401354
14	PRKCG	NM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly)	single nucleotide variant	Pathogenic	rs121918517	GRCh38	Chromosome 19, 53898100: 53898100
15	PRKCG	NM_002739.4(PRKCG): c.303C> G (p.His101Gln)	single nucleotide variant	Pathogenic	rs121918518	GRCh37	Chromosome 19, 54392909: 54392909
16	PRKCG	NM_002739.4(PRKCG): c.303C> G (p.His101Gln)	single nucleotide variant	Pathogenic	rs121918518	GRCh38	Chromosome 19, 53889655: 53889655
17	PRKCG	NM_002739.3(PRKCG): c.2091_*98del102	deletion	Pathogenic	rs1555808841	GRCh37	Chromosome 19, 54410146: 54410247
18	PRKCG	NM_002739.3(PRKCG): c.2091_*98del102	deletion	Pathogenic	rs1555808841	GRCh38	Chromosome 19, 53906892: 53906993
19	PRKCG	NM_002739.3(PRKCG): c.530_919del	deletion	Pathogenic
20	PRKCG	NM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr)	single nucleotide variant	Pathogenic	rs387906679	GRCh37	Chromosome 19, 54403866: 54403866
21	PRKCG	NM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr)	single nucleotide variant	Pathogenic	rs387906679	GRCh38	Chromosome 19, 53900612: 53900612
22	PRKCG	NM_002739.4(PRKCG): c.188G> T (p.Gly63Val)	single nucleotide variant	Pathogenic	rs386134159	GRCh37	Chromosome 19, 54386434: 54386434
23	PRKCG	NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr)	single nucleotide variant	Pathogenic	rs386134162	GRCh37	Chromosome 19, 54392947: 54392947
24	PRKCG	NM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr)	single nucleotide variant	Pathogenic	rs386134162	GRCh38	Chromosome 19, 53889693: 53889693
25	PRKCG	NM_002739.4(PRKCG): c.188G> T (p.Gly63Val)	single nucleotide variant	Pathogenic	rs386134159	GRCh38	Chromosome 19, 53883180: 53883180
26	PRKCG	NM_002739.4(PRKCG): c.296_301del (p.His101_Lys102del)	deletion	Pathogenic	rs386134161	GRCh37	Chromosome 19, 54392902: 54392907
27	PRKCG	NM_002739.4(PRKCG): c.296_301del (p.His101_Lys102del)	deletion	Pathogenic	rs386134161	GRCh38	Chromosome 19, 53889648: 53889653
28	PRKCG	NM_002739.4(PRKCG): c.76A> G (p.Arg26Gly)	single nucleotide variant	Pathogenic	rs386134157	GRCh37	Chromosome 19, 54385824: 54385824
29	PRKCG	NM_002739.4(PRKCG): c.76A> G (p.Arg26Gly)	single nucleotide variant	Pathogenic	rs386134157	GRCh38	Chromosome 19, 53882570: 53882570
30	PRKCG	NM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser)	single nucleotide variant	Pathogenic	rs386134171	GRCh37	Chromosome 19, 54401351: 54401351
31	PRKCG	NM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser)	single nucleotide variant	Pathogenic	rs386134171	GRCh38	Chromosome 19, 53898097: 53898097
32	PRKCG	NM_002739.4(PRKCG): c.122G> C (p.Arg41Pro)	single nucleotide variant	Pathogenic	rs386134158	GRCh37	Chromosome 19, 54385870: 54385870
33	PRKCG	NM_002739.4(PRKCG): c.122G> C (p.Arg41Pro)	single nucleotide variant	Pathogenic	rs386134158	GRCh38	Chromosome 19, 53882616: 53882616
34	PRKCG	NM_002739.3(PRKCG): c.2075T> G (p.Val692Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs78437096	GRCh37	Chromosome 19, 54410130: 54410130
35	PRKCG	NM_002739.3(PRKCG): c.2075T> G (p.Val692Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs78437096	GRCh38	Chromosome 19, 53906876: 53906876
36	PRKCG	NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser)	single nucleotide variant	Pathogenic	rs386134160	GRCh37	Chromosome 19, 54387441: 54387441
37	PRKCG	NM_002739.4(PRKCG): c.229T> A (p.Cys77Ser)	single nucleotide variant	Pathogenic	rs386134160	GRCh38	Chromosome 19, 53884187: 53884187
38	PRKCG	NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe)	single nucleotide variant	Likely pathogenic	rs386134163	GRCh37	Chromosome 19, 54392962: 54392962
39	PRKCG	NM_002739.4(PRKCG): c.356C> T (p.Ser119Phe)	single nucleotide variant	Likely pathogenic	rs386134163	GRCh38	Chromosome 19, 53889708: 53889708
40	PRKCG	NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg)	single nucleotide variant	Pathogenic	rs386134164	GRCh37	Chromosome 19, 54392973: 54392973
41	PRKCG	NM_002739.4(PRKCG): c.367G> A (p.Gly123Arg)	single nucleotide variant	Pathogenic	rs386134164	GRCh38	Chromosome 19, 53889719: 53889719
42	PRKCG	NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu)	single nucleotide variant	Pathogenic	rs386134165	GRCh37	Chromosome 19, 54392974: 54392974
43	PRKCG	NM_002739.4(PRKCG): c.368G> A (p.Gly123Glu)	single nucleotide variant	Pathogenic	rs386134165	GRCh38	Chromosome 19, 53889720: 53889720
44	PRKCG	NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg)	single nucleotide variant	Pathogenic	rs386134166	GRCh37	Chromosome 19, 54392997: 54392997
45	PRKCG	NM_002739.4(PRKCG): c.391T> C (p.Cys131Arg)	single nucleotide variant	Pathogenic	rs386134166	GRCh38	Chromosome 19, 53889743: 53889743
46	PRKCG	NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr)	single nucleotide variant	Pathogenic	rs386134167	GRCh37	Chromosome 19, 54392998: 54392998
47	PRKCG	NM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr)	single nucleotide variant	Pathogenic	rs386134167	GRCh38	Chromosome 19, 53889744: 53889744
48	PRKCG	NM_002739.4(PRKCG): c.413T> A (p.Val138Glu)	single nucleotide variant	Pathogenic	rs386134168	GRCh37	Chromosome 19, 54393155: 54393155
49	PRKCG	NM_002739.4(PRKCG): c.413T> A (p.Val138Glu)	single nucleotide variant	Pathogenic	rs386134168	GRCh38	Chromosome 19, 53889901: 53889901
50	PRKCG	NM_002739.4(PRKCG): c.449_450delGCinsTT (p.Cys150Phe)	indel	Pathogenic	rs386134170	GRCh37	Chromosome 19, 54393191: 54393192

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	MAPK signaling pathway ¹ ³⁸	12.29	CASP3 DDIT3 HSPA5 PRKCG
2	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	11.75	GJA1 GJA8 ITPR1 PRKCG
3	Immune response Function of MEF2 in T lymphocytes ²³ Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²³	11.73	CASP3 ITPR1 PRKCG
4	Ca, cAMP and Lipid Signaling ⁴	11.54	ITPR1 MARCKS PRKCG
5	Serotonergic synapse ³⁸	11.39	CASP3 ITPR1 PRKCG
6	Effects of PIP2 hydrolysis ⁶⁷ Show member pathways Arachidonate production from DAG ⁶⁷	10.94	ITPR1 TRPC3
7	Photodynamic therapy-induced unfolded protein response ¹	10.83	DDIT3 HSPA5
8	Gap junction ³⁸	10.74	GJA1 ITPR1 PRKCG

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	cytoplasm	GO:0005737	9.4	APTX ATG5 CASP3 DDIT3 EEA1 GJA1
2	gap junction	GO:0005921	9.16	GJA1 GJA8
3	connexin complex	GO:0005922	8.96	GJA1 GJA8

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

#	Name	GO ID	Score	Top Affiliating Genes
1	apoptotic process	GO:0006915	9.85	ATG5 CASP3 DDIT3 GJA1 ITPR1
2	transmembrane transport	GO:0055085	9.65	GJA1 GJA8 ITPR1 SLC17A6 TRPC3
3	platelet activation	GO:0030168	9.61	ITPR1 PRKCG TRPC3
4	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	GO:0070059	9.48	DDIT3 ITPR1
5	PERK-mediated unfolded protein response	GO:0036499	9.4	DDIT3 HSPA5
6	ER overload response	GO:0006983	9.37	DDIT3 HSPA5
7	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	GO:1990440	9.32	DDIT3 HSPA5
8	ATF6-mediated unfolded protein response	GO:0036500	9.16	DDIT3 HSPA5
9	response to unfolded protein	GO:0006986	9.13	DDIT3 HSPA4 HSPA5
10	luteolysis	GO:0001554	8.62	CASP3 HSPA5

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

#	Name	GO ID	Score	Top Affiliating Genes
1	gap junction channel activity	GO:0005243	8.96	GJA1 GJA8
2	inositol 1,4,5 trisphosphate binding	GO:0070679	8.62	ITPR1 TRPC3

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Interventional clinical trials:

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

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

ClinVar 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