MCID: NXS001
MIFTS: 44

Naxos Disease malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Cardiovascular diseases

Aliases & Classifications for Naxos Disease

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Sources:
12diseasecard, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Naxos Disease:

Name: Naxos Disease 52 48 24 54 70 27 12 50 68
Mal De Naxos 48 24 70
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 54 70
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 70
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 70
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 48
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 70
Woolly Hair, Palmoplantar Keratoderma and Cardiac Abnormalities 24
 
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 54
Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy 24
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 54
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 48
Keratoderma with Woolly Hair Type I 54
Kwwh Type I 54
Nxd 70

Characteristics:

Orphanet epidemiological data:

54
naxos disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
naxos disease:
Inheritance: autosomal recessive inheritance
Mortality/Aging: sudden death

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 601214
Orphanet54 ORPHA34217
MESH via Orphanet40 C538346
UMLS via Orphanet69 C1832600
ICD10 via Orphanet31 Q87.8
MedGen37 C1832600
ICD1030 L86

Summaries for Naxos Disease

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UniProtKB/Swiss-Prot:70 Naxos disease: An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia.

MalaCards based summary: Naxos Disease, also known as mal de naxos, is related to woolly hair, autosomal dominant and hypotrichosis 8, and has symptoms including palmoplantar keratoderma, hypertrophic cardiomyopathy and woolly hair. An important gene associated with Naxos Disease is JUP (Junction Plakoglobin), and among its related pathways are Adhesion and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include skin and heart, and related mouse phenotype Decreased NF-kappaB reporter expression.

Wikipedia:71 Naxos disease (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

Description from OMIM:52 601214

Related Diseases for Naxos Disease

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Graphical network of the top 20 diseases related to Naxos Disease:



Diseases related to naxos disease

Symptoms & Phenotypes for Naxos Disease

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Symptoms by clinical synopsis from OMIM:

601214

Clinical features from OMIM:

601214

Human phenotypes related to Naxos Disease:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma64 54 hallmark (90%) Very frequent (99-80%) HP:0000982
2 hypertrophic cardiomyopathy64 hallmark (90%) HP:0001639
3 woolly hair64 54 hallmark (90%) Very frequent (99-80%) HP:0002224
4 vertigo64 54 hallmark (90%) Very frequent (99-80%) HP:0002321
5 cleft upper lip64 54 typical (50%) Frequent (79-30%) HP:0000204
6 hyperhidrosis64 54 typical (50%) Frequent (79-30%) HP:0000975
7 congestive heart failure64 54 typical (50%) Frequent (79-30%) HP:0001635
8 abnormal hair quantity64 typical (50%) HP:0011362
9 acanthosis nigricans64 54 occasional (7.5%) Occasional (29-5%) HP:0000956
10 sudden cardiac death64 54 occasional (7.5%) Occasional (29-5%) HP:0001645
11 sparse and thin eyebrow64 HP:0000535
12 fragile skin64 HP:0001030
13 cardiomegaly64 HP:0001640
14 dilated cardiomyopathy64 HP:0001644
15 onycholysis64 HP:0001806
16 curly hair64 54 Frequent (79-30%) HP:0002212
17 episodes of ventricular tachycardia64 54 Very frequent (99-80%) HP:0005141
18 nail dystrophy64 HP:0008404
19 acantholysis64 HP:0100792
20 cardiomyopathy54 Very frequent (99-80%)
21 sparse scalp hair54 Frequent (79-30%)
22 abnormality of hair texture54 Very frequent (99-80%)
23 arrhythmia54 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Naxos Disease according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00312-A8.0DSC2, DSP, JUP, PKP2

Drugs & Therapeutics for Naxos Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Naxos Disease

Genetic Tests for Naxos Disease

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Genetic tests related to Naxos Disease:

id Genetic test Affiliating Genes
1 Naxos Disease27 24 JUP

Anatomical Context for Naxos Disease

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MalaCards organs/tissues related to Naxos Disease:

36
Skin, Heart

Publications for Naxos Disease

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Articles related to Naxos Disease:

(show all 34)
idTitleAuthorsYear
1
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. (27747171)
2016
2
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. (25430408)
2014
3
Naxos disease: an unusual cause of cardiomyopathy. (23703567)
2013
4
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. (24187773)
2013
5
Naxos disease and Carvajal variant. (23942402)
2013
6
Anaesthesia in Naxos disease: first case report. (23448613)
2013
7
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. (23336952)
2013
8
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. (22572432)
2012
9
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. (21640403)
2012
10
Living after sudden death: A case report of Naxos disease. (23559728)
2012
11
Naxos disease in two siblings. (21188028)
2010
12
Naxos disease presenting with ventricular tachycardia and troponin elevation. (19165571)
2009
13
The discovery of Naxos disease. (19891084)
2009
14
Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. (18187826)
2008
15
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). (17998464)
2007
16
Images in cardiovascular medicine. Ventricular tachycardia: the spectrum continues to broaden: report of Naxos disease. (16864732)
2006
17
Naxos disease. (16816500)
2006
18
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. (16722579)
2006
19
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)
2006
20
Naxos disease. (16943947)
2005
21
Naxos disease in Saudi Arabia. (15324409)
2004
22
Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene. (15494820)
2004
23
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. (15210133)
2004
24
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). (15851108)
2004
25
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. (14675023)
2003
26
Naxos disease. (14618065)
2003
27
Myelodysplasia and Naxos disease: a novel pathogenetic association? (12399983)
2002
28
Evidence for extensive locus heterogeneity in Naxos disease. (11874502)
2002
29
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). (11984022)
2002
30
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. (11174397)
2001
31
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
2001
32
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (10902626)
2000
33
Implantable defibrillator therapy in Naxos disease. (10914377)
2000
34
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. (9610536)
1998

Variations for Naxos Disease

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Clinvar genetic disease variations for Naxos Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1JUPNM_021991.2(JUP): c.2038_2039delTG (p.Trp680Glyfs)deletionPathogenicrs113994177GRCh37Chr 17, 39913674: 39913675
2JUPNM_002230.2(JUP): c.818T> C (p.Met273Thr)SNVLikely pathogenicrs782091454GRCh37Chr 17, 39923722: 39923722
3JUPNM_002230.2(JUP): c.71C> A (p.Ser24Ter)SNVPathogenicrs782460555GRCh37Chr 17, 39928036: 39928036
4JUPNM_002230.2(JUP): c.468G> A (p.Pro156=)SNVPathogenicrs886037753GRCh37Chr 17, 39925670: 39925670
5JUPNM_002230.2(JUP): c.1615C> T (p.Gln539Ter)SNVPathogenicrs797046139GRCh37Chr 17, 39915005: 39915005
6JUPNM_002230.2(JUP): c.794G> A (p.Arg265His)SNVPathogenicrs782440692GRCh38Chr 17, 41767494: 41767494

Expression for genes affiliated with Naxos Disease

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Search GEO for disease gene expression data for Naxos Disease.

Pathways for genes affiliated with Naxos Disease

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Pathways related to Naxos Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1DSP, JUP
29.1DSP, JUP
39.1DSP, JUP
4
Show member pathways
9.0DSP, PKP2

GO Terms for genes affiliated with Naxos Disease

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Cellular components related to Naxos Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:00059169.7DSP, JUP
2cell-cell adherens junctionGO:00059139.5DSC2, JUP, PKP2
3cell-cell junctionGO:00059119.1DSP, JUP, PKP2
4desmosomeGO:00300578.6DSC2, DSP, JUP, PKP2
5intercalated discGO:00147048.5DSC2, DSP, JUP, PKP2
6intermediate filamentGO:00058828.5DSP, JUP, PKP2

Biological processes related to Naxos Disease according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:00021599.9JUP, PKP2
2establishment of protein localization to plasma membraneGO:00900029.9JUP, PKP2
3adherens junction organizationGO:00343329.7DSP, JUP
4skin developmentGO:00435889.1DSP, JUP
5single organismal cell-cell adhesionGO:00163379.0DSP, JUP, PKP2
6bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860738.6DSC2, DSP, JUP, PKP2
7regulation of heart rate by cardiac conductionGO:00860918.6DSC2, DSP, JUP, PKP2
8regulation of ventricular cardiac muscle cell action potentialGO:00989118.6DSC2, DSP, JUP, PKP2

Molecular functions related to Naxos Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alpha-catenin bindingGO:004529410.0JUP, PKP2
2cell adhesion molecule bindingGO:00508399.7DSP, JUP
3protein kinase C bindingGO:00050809.6DSP, PKP2
4structural molecule activityGO:00051989.1DSP, JUP
5cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860838.6DSC2, DSP, JUP, PKP2

Sources for Naxos Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet