MCID: NXS001
MIFTS: 42

Naxos Disease malady

Genetic diseases, Rare diseases, Skin diseases, Cardiovascular diseases categories

Summaries for Naxos Disease

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Wikipedia:63 Naxos disease (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

MalaCards based summary: Naxos Disease, also known as palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy, is related to arrhythmogenic right ventricular cardiomyopathy and keratoderma, 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 Cell adhesion Endothelial cell contacts by junctional mechanisms. The compounds sucrose and ryanodine have been mentioned in the context of this disorder. Affiliated tissues include heart and skin.

Description from OMIM:45 601214

Aliases & Classifications for Naxos Disease

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Naxos Disease, Aliases & Descriptions:

Name: Naxos Disease 45 10 41 20 43 47 22 60
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 41 47
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 41 47
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 41 47
 
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 41
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 41
Mal De Naxos 41


Classifications:

Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
naxos disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 601214
Orphanet47 34217
MESH via Orphanet34 C538346
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1832600

Related Diseases for Naxos Disease

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Graphical network of 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:

 47 (show all 14)
  • dizziness
  • palmoplantar hyperkeratosis/keratoderma
  • abnormal hair texture/hair dysplasia
  • woolly/frizzy hair
  • cardiomyopathy/hypertrophic/dilated
  • cardiac rhythm disorder/arrhythmia
  • autosomal recessive inheritance
  • cleft lip
  • hyperhidrosis/increased sweating
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • brittle hair/distrix/trichorrhexis
  • heart/cardiac failure
  • acanthosis nigricans
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest

HPO human phenotypes related to Naxos Disease:

(show all 17)
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 autosomal recessive inheritance HP:0000007
12 palmoplantar keratoderma HP:0000982
13 cardiomegaly HP:0001640
14 dilated cardiomyopathy HP:0001644
15 curly hair HP:0002212
16 woolly hair HP:0002224
17 episodes of ventricular tachycardia HP:0005141

Drugs & Therapeutics for Naxos Disease

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Drug clinical trials:

Search ClinicalTrials for Naxos Disease

Search 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 Disease20 22 JUP

Anatomical Context for Naxos Disease

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MalaCards organs/tissues related to Naxos Disease:

31
Heart, Skin

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
The discovery of Naxos disease. (19891084)
2009
12
Naxos disease presenting with ventricular tachycardia and troponin elevation. (19165571)
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
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
17
Naxos disease. (16816500)
2006
18
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. (16722579)
2006
19
Naxos disease. (16943947)
2005
20
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). (15851108)
2004
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
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
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
2001
30
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. (11174397)
2001
31
Implantable defibrillator therapy in Naxos disease. (10914377)
2000
32
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (10902626)
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1JUPNM_021991.2(JUP): c.2038_2039delTG (p.Trp680Glyfs)deletionPathogenicrs113994177GRCh37Chr 17, 39913674: 39913675

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 pathways (with members indented)ScoreTop Affiliating Genes
19.1DSP, JUP
29.1DSP, JUP
39.1DSP, JUP
49.0DSP, PKP2
5
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.0PKP2, DSC2, DSP, JUP

Compounds for genes affiliated with Naxos Disease

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Naxos Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1sucrose43 24 1211.1DSP, JUP
2ryanodine43 28 5910.8DSP, JUP

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:00059139.5JUP, DSC2
2cell-cell junctionGO:00059119.3JUP, PKP2
3fascia adherensGO:00059169.2JUP, DSP
4basolateral plasma membraneGO:00163238.8JUP, DSP
5intercalated discGO:00147048.7PKP2, DSP, JUP
6intermediate filamentGO:00058828.7PKP2, JUP, DSP
7extracellular vesicular exosomeGO:00700628.6DSC2, DSP, JUP
8desmosomeGO:00300578.2DSC2, JUP, DSP, PKP2
9plasma membraneGO:00058867.9PKP2, DSC2, DSP, JUP

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

idNameGO IDScoreTop Affiliating Genes
1adherens junction organizationGO:00343329.1DSP, JUP
2desmosome assemblyGO:00021599.0PKP2, JUP
3cell-cell adhesionGO:00163378.4PKP2, DSP, JUP
4bundle of His cell to Purkinje myocyte communicationGO:00860698.1PKP2, DSC2, DSP, JUP
5ventricular cardiac muscle cell action potentialGO:00860058.1JUP, DSP, DSC2, PKP2
6regulation of heart rate by cardiac conductionGO:00860918.0JUP, DSP, DSC2, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase C bindingGO:00050808.9PKP2, DSP
2structural molecule activityGO:00051988.8DSP, JUP
3protein bindingGO:00055158.0PKP2, DSC2, DSP, JUP

Products for genes affiliated with Naxos Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Naxos Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet