Spinocerebellar Ataxia Type 14 malady

MalaCards: Spinocerebellar Ataxia Type 14, also known as spinocerebellar ataxia 14, is related to ataxia and olivopontocerebellar atrophy. An important gene associated with Spinocerebellar Ataxia Type 14 is PRKCG (protein kinase C, gamma), and among its related pathways are PLCG1 events in ERBB2 signaling and Endocrine and other factor-regulated calcium reabsorption. The compound pkcs have been mentioned in the context of this disorder.

OMIM: 605361

spinocerebellar ataxia type 14 15 30 spinocerebellar ataxia 14 30 33 43

sca14 15 30 32

Disease types for spinocerebellar ataxia family:

spinocerebellar ataxia type 3	spinocerebellar ataxia type 6
spinocerebellar ataxia type 7	spinocerebellar ataxia type 8
spinocerebellar ataxia type 10	spinocerebellar ataxia type 11
spinocerebellar ataxia type 12	spinocerebellar ataxia type 13
spinocerebellar ataxia type 14	spinocerebellar ataxia type 15
spinocerebellar ataxia type 17	spinocerebellar ataxia type 20
spinocerebellar ataxia type 28	spinocerebellar ataxia 18
spinocerebellar ataxia 19	spinocerebellar ataxia 21
spinocerebellar ataxia 23	spinocerebellar ataxia 25
spinocerebellar ataxia 26	spinocerebellar ataxia 27
spinocerebellar ataxia 29	spinocerebellar ataxia 30
spinocerebellar ataxia 31	spinocerebellar ataxia 34
spinocerebellar ataxia 4	spinocerebellar ataxia 5
spinocerebellar ataxia 9

Diseases related to spinocerebellar ataxia type 14 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 146)

id	Related Disease	Score	Top Affiliating Genes
1	ataxia	37.8	PRKACG, PRKCG, SGCE
2	olivopontocerebellar atrophy	32.8	SGCE, PRKCG, PRKACG
3	schizophrenia	28.2	SGCE, PRKCG, PRKACG
4	spinocerebellar ataxia	13.8
5	cholera	12.0	PRKCG, PRKACG
6	spinocerebellar ataxia type 6	11.8
7	spinocerebellar ataxia type 3	11.0
8	spinocerebellar ataxia type 7	10.8
9	spinocerebellar ataxia type 10	10.5
10	spinocerebellar ataxia type 17	10.4
11	spinocerebellar ataxia type10	10.4
12	spinocerebellar ataxia type14	10.3
13	spinocerebellar ataxia type17	10.3
14	spinocerebellar ataxia type 8	9.9
15	neurodegeneration	9.2
16	spinocerebellar ataxia type 11	9.2
17	spinocerebellar ataxia type 12	9.2
18	spinocerebellar ataxia type 15	9.2
19	spinocerebellar ataxia type 20	9.2
20	neuronitis	9.0
21	spinocerebellar ataxia type 13	9.0
22	spinocerebellar ataxia type 28	9.0
23	spinocerebellar ataxia type11	9.0
24	spinocerebellar ataxia type12	9.0
25	spinocerebellar ataxia type15	9.0
26	spinocerebellar ataxia type20	9.0
27	spinocerebellar ataxia with axonal neuropathy, autosomal recessive	8.9
28	cerebellar ataxia	8.8
29	spinocerebellar ataxia type28	8.8
30	machado-joseph disease	8.5
31	spinocerebellar ataxia type13	8.5
32	episodic ataxia	8.1
33	nystagmus	8.1
34	spinocerebellar ataxia 5	8.1
35	spinocerebellar ataxia type23	8.1
36	spinocerebellar ataxia, autosomal recessive, 9	8.0
37	x-linked sideroblastic anemia with ataxia	8.0
38	spinocerebellar ataxia autosomal recessive 3	8.0
39	episodic ataxia type 2	7.6
40	familial hemiplegic migraine	7.6
41	friedreich ataxia	7.6
42	hemiplegic migraine	7.6
43	huntington's disease	7.6
44	parkinson's disease	7.6
45	retinitis	7.6
46	spinocerebellar ataxia 4	7.6
47	spinocerebellar ataxia type27	7.6
48	spinocerebellar ataxia type35	7.6
49	dementia	7.6
50	myoclonic epilepsy myopathy sensory ataxia	7.6

Clinical features from OMIM: 605361

Approved drugs:

Drug clinical trials:

Articles related to spinocerebellar ataxia type 14:

(show all 14)

id	Title	Authors	Year	Affiliating Genes
1	Spinocerebellar ataxia type 14. (21827914)	Chen D.H.... Bird T.D.	2012	PRKCG
2	Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)	Foncke E.M.... Tijssen M.A.	2010	SGCE
3	Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. (19041943)	Seki T.... Sakai N.	2009	PRKCG
4	PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. (18577575)	Verbeek D.S.... Reits E.A.	2008	PRKCG
5	Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. (18499672)	Adachi N.... Saito N.	2008	PRKCG
6	Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. (17562946)	Klebe S.... Durr A.	2007	PRKCG
7	Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. (16763984)	Hiramoto K.... Sakai N.	2006	PRKCG
8	A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. (16189624)	Alonso I.... Silveira I.	2005	PRKCG
9	Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. (15964845)	Seki T.... Sakai N.	2005	PRKCG
10	New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. (16193476)	Klebe S.... Stevanin G.	2005	PRKCG
11	Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. (16291902)	Fahey M.C.... Storey E.	2005	PRKCG
12	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	PRKCG, PRKACG
13	Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. (14676051)	Yabe I.... Tashiro K.	2003	PRKCG
14	Spinocerebellar Ataxia Type 14 (20301573)	Chen D.H.... Raskind W.H.	1993	PRKCG

Genes related to spinocerebellar ataxia type 14 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PRKCG	protein kinase C, gamma	11.0	Publications
2	PRKACG	protein kinase, cAMP-dependent, catalytic, gamma	11.0	Publications
3	SGCE	sarcoglycan, epsilon	11.0	Publications

Pathways related to spinocerebellar ataxia type 14 according to GeneDecks:

(show all 41)

id	Pathway	Score	Top Affiliating Genes
1	PLCG1 events in ERBB2 signaling38	9.5	PRKCG, PRKACG
2	Endocrine and other factor-regulated calcium reabsorption20	9.5	PRKCG, PRKACG
3	Vibrio cholerae infection20	9.5	PRKACG, PRKCG
4	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.5	PRKCG, PRKACG
5	PACAP Signaling36	9.4	PRKCG, PRKACG
6	Beta-agonist/Beta-blocker Pathway, Pharmacodynamics34	9.4	PRKACG, PRKCG
7	Signal transduction Erk Interactions- Inhibition of Erk10	9.4	PRKCG, PRKACG
8	Long-term potentiation20	9.4	PRKACG, PRKCG
9	Signal transduction_Calcium signaling41	9.4	PRKACG, PRKCG
10	Signal transduction Calcium signaling10	9.4	PRKACG, PRKCG
11	Gastric acid secretion20	9.4	PRKACG, PRKCG
12	Signal transduction_Erk Interactions- Inhibition of Erk41	9.4	PRKACG, PRKCG
13	Signal transduction cAMP signaling10	9.4	PRKCG, PRKACG
14	Signal transduction_cAMP signaling41	9.4	PRKCG, PRKACG
15	Salivary secretion20	9.4	PRKCG, PRKACG
16	Gap junction20	9.4	PRKACG, PRKCG
17	Transcription CREB pathway10	9.4	PRKCG, PRKACG
18	Melanogenesis20	9.4	PRKACG, PRKCG
19	Androgen Signaling36	9.4	PRKACG, PRKCG
20	Transcription_CREB pathway41	9.4	PRKACG, PRKCG
21	Amoebiasis20	9.4	PRKACG, PRKCG
22	Cholinergic synapse20	9.4	PRKCG, PRKACG
23	G-Beta Gamma Signaling36	9.4	PRKCG, PRKACG
24	Vascular smooth muscle contraction20	9.4	PRKACG, PRKCG
25	Sweet Taste Signaling36	9.3	PRKCG, PRKACG
26	Neuropathic Pain-Signaling in Dorsal Horn Neurons36	9.3	PRKACG, PRKCG
27	Glutamatergic synapse20	9.3	PRKCG, PRKACG
28	Melatonin Signaling36	9.3	PRKCG, PRKACG
29	CRHR Pathway36	9.3	PRKACG, PRKCG
30	Wnt signaling pathway20	9.3	PRKCG, PRKACG
31	NFAT and Cardiac Hypertrophy36	9.3	PRKACG, PRKCG
32	Calcium signaling pathway20	9.3	PRKCG, PRKACG
33	Sperm Motility36	9.2	PRKCG, PRKACG
34	Dopamine-DARPP32 Feedback onto cAMP Pathway36	9.2	PRKACG, PRKCG
35	Signaling Involved in Cardiac Hypertrophy36	9.2	PRKCG, PRKACG
36	Renin-Angiotensin Pathway36	9.1	PRKACG, PRKCG
37	GnRH Signaling36	9.1	PRKCG, PRKACG
38	MAPK signaling pathway20	9.0	PRKCG, PRKACG
39	PKA Signaling36	9.0	PRKCG, PRKACG
40	CREB Pathway36	8.9	PRKACG, PRKCG
41	GPCR Pathway36	8.7	PRKCG, PRKACG

Compounds related to spinocerebellar ataxia type 14 according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	pkcs32	9.0	PRKCG, PRKACG

Biological processes related to spinocerebellar ataxia type 14 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	activation of phospholipase C activity	GO:007202	9.0	PRKCG, PRKACG
2	nerve growth factor receptor signaling pathway	GO:048011	9.0	PRKCG, PRKACG
3	fibroblast growth factor receptor signaling pathway	GO:008543	8.9	PRKCG, PRKACG
4	epidermal growth factor receptor signaling pathway	GO:007173	8.7	PRKCG, PRKACG