MCID: NXS001
MIFTS: 47

Naxos Disease malady

Genetic diseases, Rare diseases, Skin diseases, Cardiovascular diseases categories
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Summaries for Naxos Disease

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 nonepidermolytic palmoplantar keratoderma, and has symptoms including collapse/sudden death/cardiac arrest/cardiorespiratory arrest, acanthosis nigricans and heart/cardiac failure. 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:47 601214

Aliases & Classifications for Naxos Disease

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Orphanet: 49 
Rare skin diseases


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 62
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 Orphanet63 C1832600

Related Diseases for Naxos Disease

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Sources:
17GeneCards, 18GeneDecks
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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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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

601214

Clinical features from OMIM:

601214

Symptoms:

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

Drugs & Therapeutics for Naxos Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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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

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

33
Heart, Skin

Animal Models for Naxos Disease or affiliated genes

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Publications for Naxos Disease

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Sources:
52PubMed
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Articles related to Naxos Disease:

(show all 32)
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
Living after sudden death: A case report of Naxos disease. (23559728)
2012
9
Naxos disease in two siblings. (21188028)
2010
10
The discovery of Naxos disease. (19891084)
2009
11
Naxos disease presenting with ventricular tachycardia and troponin elevation. (19165571)
2009
12
Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. (18187826)
2008
13
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). (17998464)
2007
14
Images in cardiovascular medicine. Ventricular tachycardia: the spectrum continues to broaden: report of Naxos disease. (16864732)
2006
15
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
16
Naxos disease. (16816500)
2006
17
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. (16722579)
2006
18
Naxos disease. (16943947)
2005
19
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). (15851108)
2004
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
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. (14675023)
2003
24
Naxos disease. (14618065)
2003
25
Myelodysplasia and Naxos disease: a novel pathogenetic association? (12399983)
2002
26
Evidence for extensive locus heterogeneity in Naxos disease. (11874502)
2002
27
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). (11984022)
2002
28
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
2001
29
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. (11174397)
2001
30
Implantable defibrillator therapy in Naxos disease. (10914377)
2000
31
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (10902626)
2000
32
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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Naxos Disease:

1
id Gene Name 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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Sources:
2BioGPS, 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

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Sources:
50PathCards, 5Cell Signaling Technology, 60Thomson Reuters, 51PharmGKB, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Naxos Disease according to GeneCards/GeneDecks:

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 cardiomyopathy38
8.0PKP2, DSC2, DSP, JUP

Compounds for genes affiliated with Naxos Disease

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Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Naxos Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sucrose45 24 1111.1DSP, JUP
2ryanodine45 29 6110.8DSP, JUP

GO Terms for genes affiliated with Naxos Disease

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Sources:
16Gene Ontology
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Cellular components related to Naxos Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell adherens junctionGO:0059139.5JUP, DSC2
2cell-cell junctionGO:0059119.3PKP2, JUP
3fascia adherensGO:0059169.2DSP, JUP
4basolateral plasma membraneGO:0163238.8DSP, JUP
5intercalated discGO:0147048.7JUP, DSP, PKP2
6intermediate filamentGO:0058828.7PKP2, DSP, JUP
7extracellular vesicular exosomeGO:0700628.6DSC2, DSP, JUP
8desmosomeGO:0300578.2PKP2, DSC2, DSP, JUP
9plasma membraneGO:0058867.9JUP, DSP, DSC2, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1adherens junction organizationGO:0343329.1DSP, JUP
2desmosome assemblyGO:0021599.0PKP2, JUP
3cell-cell adhesionGO:0163378.4PKP2, DSP, JUP
4bundle of His cell to Purkinje myocyte communicationGO:0860698.1PKP2, DSC2, DSP, JUP
5ventricular cardiac muscle cell action potentialGO:0860058.1JUP, DSP, DSC2, PKP2
6regulation of heart rate by cardiac conductionGO:0860918.0JUP, DSP, DSC2, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase C bindingGO:0050808.9PKP2, DSP
2structural molecule activityGO:0051988.8DSP, JUP
3protein bindingGO:0055158.0PKP2, DSC2, DSP, JUP

Products for genes affiliated with Naxos Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Naxos Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet