MCID: NXS001
MIFTS: 46

Naxos Disease malady

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

Aliases & Classifications for Naxos Disease

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Naxos Disease:

Name: Naxos Disease 50 46 23 52 68 25 12 48 66
Mal De Naxos 46 23 68
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 52 68
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 68
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 68
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 46
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 68
Woolly Hair, Palmoplantar Keratoderma and Cardiac Abnormalities 23
 
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 52
Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy 23
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 52
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 46
Keratoderma with Woolly Hair Type I 52
Kwwh Type I 52
Nxd 68

Characteristics:

Orphanet epidemiological data:

52
naxos disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
naxos disease:
Inheritance: autosomal recessive inheritance
Mortality/Aging: sudden death


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 601214
Orphanet52 ORPHA34217
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C538346
UMLS via Orphanet67 C1832600
MedGen35 C1832600

Summaries for Naxos Disease

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UniProtKB/Swiss-Prot:68 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 cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, 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.

Wikipedia:69 Naxos disease (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

Description from OMIM:50 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 for Naxos Disease

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Symptoms by clinical synopsis from OMIM:

601214

Clinical features from OMIM:

601214

Symptoms:

 52 (show all 14)
  • cleft upper lip
  • acanthosis nigricans
  • hyperhidrosis
  • palmoplantar keratoderma
  • congestive heart failure
  • cardiomyopathy
  • sudden cardiac death
  • sparse scalp hair
  • curly hair
  • woolly hair
  • vertigo
  • episodes of ventricular tachycardia
  • abnormality of hair texture
  • arrhythmia

HPO human phenotypes related to Naxos Disease:

(show all 22)
id Description Frequency HPO Source Accession
1 palmoplantar keratoderma hallmark (90%) HP:0000982
2 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
3 woolly hair hallmark (90%) HP:0002224
4 vertigo hallmark (90%) HP:0002321
5 cleft upper lip typical (50%) HP:0000204
6 hyperhidrosis typical (50%) HP:0000975
7 congestive heart failure typical (50%) HP:0001635
8 abnormal hair quantity typical (50%) HP:0011362
9 acanthosis nigricans occasional (7.5%) HP:0000956
10 sudden cardiac death occasional (7.5%) HP:0001645
11 sparse and thin eyebrow HP:0000535
12 palmoplantar keratoderma HP:0000982
13 fragile skin HP:0001030
14 congestive heart failure HP:0001635
15 cardiomegaly HP:0001640
16 dilated cardiomyopathy HP:0001644
17 onycholysis HP:0001806
18 curly hair HP:0002212
19 woolly hair HP:0002224
20 episodes of ventricular tachycardia HP:0005141
21 nail dystrophy HP:0008404
22 acantholysis HP:0100792

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 Disease25 23 JUP

Anatomical Context for Naxos Disease

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MalaCards organs/tissues related to Naxos Disease:

34
Skin, Heart

Animal Models for Naxos Disease or affiliated genes

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Publications for Naxos Disease

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Articles related to Naxos Disease:

(show all 33)
idTitleAuthorsYear
1
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. (25430408)
2014
2
Naxos disease: an unusual cause of cardiomyopathy. (23703567)
2013
3
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. (24187773)
2013
4
Naxos disease and Carvajal variant. (23942402)
2013
5
Anaesthesia in Naxos disease: first case report. (23448613)
2013
6
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. (23336952)
2013
7
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. (22572432)
2012
8
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. (21640403)
2012
9
Living after sudden death: A case report of Naxos disease. (23559728)
2012
10
Naxos disease in two siblings. (21188028)
2010
11
Naxos disease presenting with ventricular tachycardia and troponin elevation. (19165571)
2009
12
The discovery of Naxos disease. (19891084)
2009
13
Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. (18187826)
2008
14
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). (17998464)
2007
15
Images in cardiovascular medicine. Ventricular tachycardia: the spectrum continues to broaden: report of Naxos disease. (16864732)
2006
16
Naxos disease. (16816500)
2006
17
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. (16722579)
2006
18
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
19
Naxos disease. (16943947)
2005
20
Naxos disease in Saudi Arabia. (15324409)
2004
21
Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene. (15494820)
2004
22
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. (15210133)
2004
23
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). (15851108)
2004
24
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. (14675023)
2003
25
Naxos disease. (14618065)
2003
26
Myelodysplasia and Naxos disease: a novel pathogenetic association? (12399983)
2002
27
Evidence for extensive locus heterogeneity in Naxos disease. (11874502)
2002
28
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). (11984022)
2002
29
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. (11174397)
2001
30
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
2001
31
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (10902626)
2000
32
Implantable defibrillator therapy in Naxos disease. (10914377)
2000
33
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.71C> A (p.Ser24Ter)single nucleotide variantPathogenicrs782460555GRCh37Chr 17, 39928036: 39928036
3JUPJUP, 468G-Asingle nucleotide variantPathogenic
4JUPNM_002230.2(JUP): c.1615C> T (p.Gln539Ter)single nucleotide variantPathogenicrs797046139GRCh37Chr 17, 39915005: 39915005
5JUPNM_002230.2(JUP): c.794G> A (p.Arg265His)single nucleotide variantPathogenicrs782440692GRCh38Chr 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
1fascia adherensGO:00059169.5DSP, JUP
2intermediate filamentGO:00058828.9DSP, JUP, PKP2
3cell-cell adherens junctionGO:00059138.7DSC2, JUP, PKP2
4cell-cell junctionGO:00059118.5DSP, JUP, PKP2
5intercalated discGO:00147048.1DSC2, DSP, JUP, PKP2
6desmosomeGO:00300577.7DSC2, DSP, 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:00900029.8JUP, PKP2
3adherens junction organizationGO:00343329.4DSP, JUP
4skin developmentGO:00435889.4DSP, JUP
5single organismal cell-cell adhesionGO:00163378.7DSP, JUP, PKP2
6regulation of heart rate by cardiac conductionGO:00860918.0DSC2, DSP, JUP, PKP2
7bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860737.9DSC2, DSP, JUP, PKP2
8regulation of ventricular cardiac muscle cell action potentialGO:00989117.7DSC2, DSP, JUP, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1alpha-catenin bindingGO:00452949.4JUP, PKP2
2protein kinase C bindingGO:00050809.2DSP, PKP2
3structural molecule activityGO:00051989.1DSP, JUP
4cell adhesion molecule bindingGO:00508398.8DSP, JUP
5cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860838.0DSC2, DSP, JUP, PKP2

Sources for Naxos Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet