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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Wikipedia:65 Naxos disease (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

MalaCards based summary: Naxos Disease, also known as mal de naxos, is related to arrhythmogenic right ventricular cardiomyopathy and keratoderma, and has symptoms including dizziness, palmoplantar hyperkeratosis/keratoderma and abnormal hair texture/hair dysplasia. 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:46 601214

Aliases & Classifications for Naxos Disease

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Naxos Disease, Aliases & Descriptions:

Name: Naxos Disease 42 20 22 46 44 48 62
Mal De Naxos 42 62
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 42
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 48
 
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 48
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 42
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 48


Classifications:

Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
naxos disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 601214
MESH via Orphanet35 C538346
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 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:

48 (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:

32
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 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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Clinvar genetic disease variations for Naxos Disease:

6
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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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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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 cardiomyopathy37
8.0PKP2, DSC2, DSP, JUP

Compounds for genes affiliated with Naxos Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 61Tocris Bioscience
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Compounds related to Naxos Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sucrose44 24 1111.1DSP, JUP
2ryanodine44 28 6110.8DSP, JUP

GO Terms for genes affiliated with Naxos Disease

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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

Sources for Naxos Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet