Naxos Disease malady

Wikipedia: Naxos syndrome (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and...⁴⁴ more...

MalaCards: Naxos Disease, also known as woolly hair palmoplantar keratoderma cardiac abnormalities, is related to keratoderma and dilated cardiomyopathy with woolly hair and keratoderma. An important gene associated with Naxos Disease is JUP (junction plakoglobin), and among its related pathways are Cell adhesion Endothelial cell contacts by junctional mechanisms and Cell adhesion_Endothelial cell contacts by junctional mechanisms. The compounds sucrose and ryanodine have been mentioned in the context of this disorder.

OMIM: 601214

naxos disease 7 30 16 33 32 43 woolly hair palmoplantar keratoderma cardiac abnormalities 30 16 mal de naxos 30 16

keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair 30 keratosis palmoplantaris with arrhythmogenic cardiomyopathy 16 wooly hair 43

Diseases related to naxos disease by text searches and GeneDecks gene sharing:

(show all 31)

id	Related Disease	Score	Top Affiliating Genes
1	keratoderma	27.5	DSP, DSC2, JUP
2	dilated cardiomyopathy with woolly hair and keratoderma	12.5	JUP, DSP
3	familial adenomatous polyposis	12.4	DSC2, JUP
4	mongolian spot	12.4	DSP, JUP
5	palmoplantar keratosis	12.4	DSP, JUP
6	leopard syndrome	12.3	JUP, DSP
7	ectodermal dysplasia	12.3	DSC2, PKP2
8	pemphigus vulgaris	12.2	DSP, JUP
9	hailey-hailey disease	12.0	DSP, DSC2, JUP
10	pemphigus	11.9	DSP, DSC2, JUP
11	arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels	11.8	JUP, DSC2, DSP
12	arachnoiditis	11.8	PKP2, DSC2, DSP
13	non-small cell lung carcinoma	11.8	DSP, JUP
14	keratosis	11.8	DSP, PKP2, JUP
15	oral squamous cell carcinoma	11.7	JUP, DSC2, DSP
16	arrhythmogenic right ventricular dysplasia	11.3	DSP, DSC2, PKP2, JUP
17	autosomal dominant disease	11.3	JUP, PKP2, DSC2, DSP
18	meningioma	11.3	JUP, PKP2, DSC2, DSP
19	noonan syndrome	11.3	DSP, DSC2, PKP2, JUP
20	squamous cell carcinoma	11.2	DSP, DSC2, PKP2, JUP
21	hepatocellular carcinoma	11.1	JUP, PKP2, DSC2, DSP
22	lung carcinoma	10.9	JUP, PKP2, DSC2, DSP
23	cardiomyopathy	8.7
24	woolly hair syndrome	7.7
25	woolly hair, autosomal recessive	7.7
26	hypotrichosis	6.8
27	hypotrichosis simplex	6.8
28	woolly hair hypotrichosis everted lower lip and outstanding ears	6.8
29	woolly hair, autosomal recessive 1	6.8
30	woolly hair, autosomal recessive 2 with or without hypotrichosis	6.8
31	woolly hair, autosomal dominant	6.8

Clinical features from OMIM: 601214

Approved drugs:

Drug clinical trials:

Genetic tests related to naxos disease:

id	Genetic test	Affiliating Genes
1	Naxos Disease clinical/research	JUP

Articles related to naxos disease:

id	Title	Authors	Year	Affiliating Genes
1	Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. (16722579)	Protonotarios N.... Tsatsopoulou A.	2006	DSP
2	Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. (16893920)	Antoniades L.... Protonotarios N.	2006	JUP, PKP2
3	Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene. (15494820)	Stuhrmann M.... El-Harith e.l.-.H.A.	2004	DSP
4	Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. (15210133)	Protonotarios N.... Tsatsopoulou A.	2004	DSP
5	Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). (15851108)	Kaplan S.R.... Saffitz J.E.	2004	JUP, PKP2, DSC2
6	Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). (11984022)	Protonotarios N.I.... Gatzoulis K.A.	2002	JUP
7	Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)	Protonotarios N.... Toutouzas P.	2001	JUP
8	Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (10902626)	Mckoy G.... McKenna W.J.	2000	JUP

Genes related to naxos disease according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	JUP	junction plakoglobin	11.1	Publications, Summaries
2	PKP2	plakophilin 2	11.0	Publications
3	DSP	desmoplakin	11.0	Publications
4	DSC2	desmocollin 2	11.0	Publications

Pathways related to naxos disease according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cell adhesion Endothelial cell contacts by junctional mechanisms10	9.2	JUP, DSP
2	Cell adhesion_Endothelial cell contacts by junctional mechanisms41	9.2	DSP, JUP
3	Adhesion3	9.1	DSP, JUP
4	Cytoskeleton remodeling Keratin filaments10	9.0	DSP, PKP2
5	Cytoskeleton remodeling_Keratin filaments41	8.9	DSP, PKP2
6	Antiarrhythmic Pathway, Pharmacodynamics34	8.8	JUP, DSP
7	Arrhythmogenic right ventricular cardiomyopathy (ARVC)20	8.1	JUP, PKP2, DSC2, DSP

Compounds related to naxos disease according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	sucrose32 9 18 9	12.1	JUP, DSP
2	ryanodine32	8.8	JUP, DSP

Cellular components related to naxos disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell adherens junction	GO:005913	9.3	DSC2, JUP
2	cell-cell junction	GO:005911	9.0	PKP2, JUP
3	desmosome	GO:030057	8.0	DSP, DSC2, PKP2, JUP
4	plasma membrane	GO:005886	8.0	DSP, DSC2, PKP2, JUP

Biological processes related to naxos disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	adherens junction organization	GO:034332	9.1	JUP, DSP
2	cell-cell adhesion	GO:016337	8.2	JUP, PKP2, DSP