MCID: NXS001
MIFTS: 41

Naxos Disease malady

Skin, Cardiovascular categories

Summaries for Naxos Disease

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Naxos syndrome (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

MalaCards: Naxos Disease, also known as keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair, is related to keratoderma and n syndrome, and has symptoms including autosomal recessive inheritance, hyperhidrosis/increased sweating and collapse/sudden death/cardiac arrest/cardiorespiratory arrest. 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 cardiac myocytes.

Description from OMIM:47 601214

Aliases & Classifications for Naxos Disease

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
naxos disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

naxos disease 43 20 22 47 45 49 61
keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair 43
palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy 49
woolly hair palmoplantar keratoderma cardiac abnormalities 43
palmoplantar keratoderma with arrythmogenic cardiomyopathy 49
keratosis palmoplantaris with arrythmogenic cardiomyopathy 49
mal de naxos 43


External Ids:

OMIM47 601214
MESH via Orphanet36 C538346
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1832600

Related Diseases for Naxos Disease

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Naxos Disease:



Diseases related to naxos disease

Clinical Features for Naxos Disease

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

601214

Clinical synopsis from OMIM:

601214

Symptoms:

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

Drugs & Therapeutics for Naxos Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Naxos Disease

Drug clinical trials:

Search ClinicalTrials for Naxos Disease

Search NIH Clinical Center for Naxos Disease

Search CenterWatch for Naxos Disease

Genetic Tests for Naxos Disease

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Naxos Disease:

33
Heart, Cardiac myocytes

Animal Models for Naxos Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Naxos Disease

Sources:
51PubMed
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Articles related to Naxos Disease:

(show all 34)
idTitleAuthorsYear
1
Naxos disease: an unusual cause of cardiomyopathy. (23703567)
2013
2
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. (24187773)
2013
3
Naxos disease and Carvajal variant. (23942402)
2013
4
Anaesthesia in Naxos disease: first case report. (23448613)
2013
5
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. (23336952)
2013
6
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. (22572432)
2012
7
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. (21640403)
2012
8
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease. (22949226)
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
34
Abstracts of the International Symposium on Esophageal Disease, Advances in Pathogenesis and Treatment. September 3-6, 1989, Giardini Naxos-Taormina, Sicily, Italy. (2807141)
1989

Genetic Variations for Naxos Disease

Expression for genes affiliated with Naxos Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Naxos Disease

Search GEO for disease gene expression data for Naxos Disease.

Pathways for genes affiliated with Naxos Disease

Sources:
4Cell Signaling Technology, 12EMD Millipore, 50PharmGKB, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Naxos Disease

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Naxos Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sucrose45 11 2411.1DSP, JUP
2ryanodine45 29 6010.8DSP, JUP

GO Terms for genes affiliated with Naxos Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Naxos Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell adherens junctionGO:0059139.4JUP, DSC2
2cell-cell junctionGO:0059119.2JUP, PKP2
3basolateral plasma membraneGO:0163238.8JUP, DSP
4intercalated discGO:0147048.6JUP, PKP2, DSP
5intermediate filamentGO:0058828.6DSP, PKP2, JUP
6desmosomeGO:0300578.1JUP, PKP2, DSP, DSC2
7plasma membraneGO:0058868.0DSP, PKP2, DSC2, JUP

Biological processes related to Naxos Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:0021599.2PKP2, JUP
2adherens junction organizationGO:0343329.1DSP, JUP
3cell-cell adhesionGO:0163378.2DSP, PKP2, JUP
4bundle of His cell to Purkinje myocyte communicationGO:0860698.1DSC2, DSP, PKP2, JUP
5regulation of ventricular cardiac muscle cell action potentialGO:0860058.1JUP, PKP2, DSP, DSC2
6regulation of heart rate by cardiac conductionGO:0860918.0JUP, PKP2, DSP, DSC2

Molecular functions related to Naxos Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1DSP, JUP
2protein kinase C bindingGO:0050808.7DSP, PKP2

Products for genes affiliated with Naxos Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Naxos Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet