NXD
MCID: NXS001
MIFTS: 46

Naxos Disease (NXD) malady

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

Aliases & Classifications for Naxos Disease

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Sources:
12diseasecard, 24GeneTests, 27GTR, 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

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 Array, Array and Array. 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 Adhesion. Affiliated tissues include skin and heart, and related mouse phenotypes are Decreased NF-kappaB reporter expression and cardiovascular system.

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:

 54 64 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft upper lip64 54 Frequent (79-30%) HP:0000204
2 acanthosis nigricans64 54 Occasional (29-5%) HP:0000956
3 hyperhidrosis64 54 Frequent (79-30%) HP:0000975
4 palmoplantar keratoderma64 54 Very frequent (99-80%) HP:0000982
5 congestive heart failure64 54 Frequent (79-30%) HP:0001635
6 cardiomyopathy64 54 Very frequent (99-80%) HP:0001638
7 sudden cardiac death64 54 Occasional (29-5%) HP:0001645
8 sparse scalp hair64 54 Frequent (79-30%) HP:0002209
9 curly hair64 54 Frequent (79-30%) HP:0002212
10 woolly hair64 54 Very frequent (99-80%) HP:0002224
11 vertigo64 54 Very frequent (99-80%) HP:0002321
12 episodes of ventricular tachycardia64 54 Very frequent (99-80%) HP:0005141
13 abnormality of hair texture54 Very frequent (99-80%)
14 arrhythmia54 Very frequent (99-80%)
15 sparse and thin eyebrow64 HP:0000535
16 fragile skin64 HP:0001030
17 cardiomegaly64 HP:0001640
18 dilated cardiomyopathy64 HP:0001644
19 onycholysis64 HP:0001806
20 nail dystrophy64 HP:0008404
21 acantholysis64 HP:0100792

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

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

MGI Mouse Phenotypes related to Naxos Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.8DSC2, 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 36)
idTitleAuthorsYear
1
Novel founder mutation in French-Canadian families with Naxos disease. (28098346)
2017
2
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. (28329610)
2016
3
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. (27747171)
2016
4
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. (25430408)
2014
5
Naxos disease: an unusual cause of cardiomyopathy. (23703567)
2013
6
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. (23336952)
2013
7
Naxos disease and Carvajal variant. (23942402)
2013
8
Anaesthesia in Naxos disease: first case report. (23448613)
2013
9
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. (24187773)
2013
10
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. (21640403)
2012
11
Living after sudden death: A case report of Naxos disease. (23559728)
2012
12
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. (22572432)
2012
13
Naxos disease in two siblings. (21188028)
2010
14
Naxos disease presenting with ventricular tachycardia and troponin elevation. (19165571)
2009
15
The discovery of Naxos disease. (19891084)
2009
16
Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. (18187826)
2008
17
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). (17998464)
2007
18
Naxos disease. (16816500)
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
Images in cardiovascular medicine. Ventricular tachycardia: the spectrum continues to broaden: report of Naxos disease. (16864732)
2006
21
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. (16722579)
2006
22
Naxos disease. (16943947)
2005
23
Naxos disease in Saudi Arabia. (15324409)
2004
24
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). (15851108)
2004
25
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. (15210133)
2004
26
Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene. (15494820)
2004
27
Naxos disease. (14618065)
2003
28
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. (14675023)
2003
29
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). (11984022)
2002
30
Evidence for extensive locus heterogeneity in Naxos disease. (11874502)
2002
31
Myelodysplasia and Naxos disease: a novel pathogenetic association? (12399983)
2002
32
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
2001
33
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. (11174397)
2001
34
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (10902626)
2000
35
Implantable defibrillator therapy in Naxos disease. (10914377)
2000
36
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_ 002230.2(JUP): c.2038_ 2039delTG (p.Trp680Glyfs)deletionPathogenicrs113994177GRCh37Chr 17, 39913674: 39913675
2JUPNM_ 002230.2(JUP): c.71C> A (p.Ser24Ter)SNVPathogenicrs782460555GRCh37Chr 17, 39928036: 39928036
3JUPNM_ 002230.2(JUP): c.468G> A (p.Pro156=)SNVPathogenicrs886037753GRCh37Chr 17, 39925670: 39925670
4JUPNM_ 002230.2(JUP): c.1615C> T (p.Gln539Ter)SNVPathogenicrs797046139GRCh37Chr 17, 39915005: 39915005
5JUPNM_ 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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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
1cell-cell adherens junctionGO:000591310.1DSC2, JUP
2fascia adherensGO:00059169.9DSP, JUP
3adherens junctionGO:00059129.9JUP, PKP2
4cell-cell junctionGO:00059119.1DSP, JUP, PKP2
5cell junctionGO:00300548.7DSC2, DSP, JUP, PKP2
6cornified envelopeGO:00015338.6DSC2, DSP, JUP, PKP2
7desmosomeGO:00300578.6DSC2, DSP, JUP, PKP2
8intercalated discGO:00147048.6DSC2, DSP, JUP, PKP2
9intermediate filamentGO:00058828.5DSP, JUP, PKP2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1adherens junction organizationGO:003433210.0DSP, JUP
2desmosome assemblyGO:00021599.8JUP, PKP2
3establishment of protein localization to plasma membraneGO:00900029.8JUP, PKP2
4skin developmentGO:00435889.3DSP, JUP
5cell adhesionGO:00071559.3DSC2, JUP, PKP2
6single organismal cell-cell adhesionGO:00163379.0DSP, JUP, PKP2
7bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860738.7DSC2, DSP, JUP, PKP2
8cornificationGO:00702688.6DSC2, DSP, JUP, PKP2
9keratinizationGO:00314248.6DSC2, DSP, JUP, PKP2
10regulation of heart rate by cardiac conductionGO:00860918.6DSC2, DSP, JUP, PKP2
11regulation of ventricular cardiac muscle cell action potentialGO:00989118.5DSC2, DSP, JUP, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:00508399.9DSP, JUP
2alpha-catenin bindingGO:00452949.8JUP, PKP2
3protein kinase C bindingGO:00050809.6DSP, PKP2
4structural molecule activityGO:00051989.3DSP, 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