MCID: NXS001
MIFTS: 45

Naxos Disease malady

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

Aliases & Classifications for Naxos Disease

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Naxos Disease:

Name: Naxos Disease 49 11 45 22 47 51 67 24 65
Mal De Naxos 45 22 67
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 51 67
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 67
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 67
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 45
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 67
Woolly Hair, Palmoplantar Keratoderma and Cardiac Abnormalities 22
 
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 51
Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy 22
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 51
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 45
Keratoderma with Woolly Hair Type I 51
Kwwh Type I 51
Nxd 67

Characteristics:

Orphanet epidemiological data:

51
naxos disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
naxos disease:
Mortality/Aging: sudden death
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 601214
Orphanet51 34217
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C538346
UMLS via Orphanet66 C1832600
MedGen34 C1832600
UMLS65 C1832600

Summaries for Naxos Disease

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UniProtKB/Swiss-Prot:67 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 vertigo, woolly hair and hypertrophic cardiomyopathy. An important gene associated with Naxos Disease is JUP (Junction Plakoglobin), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Affiliated tissues include skin, heart and prostate, and related mouse phenotype muscle.

Wikipedia:68 Naxos disease (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

Description from OMIM:49 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:

 51 (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 22)
id Description Frequency HPO Source Accession
1 vertigo hallmark (90%) HP:0002321
2 woolly hair hallmark (90%) HP:0002224
3 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
4 palmoplantar keratoderma hallmark (90%) HP:0000982
5 abnormal hair quantity typical (50%) HP:0011362
6 congestive heart failure typical (50%) HP:0001635
7 hyperhidrosis typical (50%) HP:0000975
8 cleft upper lip typical (50%) HP:0000204
9 sudden cardiac death occasional (7.5%) HP:0001645
10 acanthosis nigricans occasional (7.5%) HP:0000956
11 acantholysis HP:0100792
12 nail dystrophy HP:0008404
13 episodes of ventricular tachycardia HP:0005141
14 woolly hair HP:0002224
15 curly hair HP:0002212
16 onycholysis HP:0001806
17 dilated cardiomyopathy HP:0001644
18 cardiomegaly HP:0001640
19 congestive heart failure HP:0001635
20 fragile skin HP:0001030
21 palmoplantar keratoderma HP:0000982
22 sparse eyebrow HP:0000535

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 Disease22 JUP

Anatomical Context for Naxos Disease

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MalaCards organs/tissues related to Naxos Disease:

33
Skin, Heart, Prostate, Smooth muscle, Brain, T cells, Endothelial

Animal Models for Naxos Disease or affiliated genes

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MGI Mouse Phenotypes related to Naxos Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2DSP, JUP, PKP2

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:

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
1intercalated discGO:00147049.8DSC2, JUP
2plasma membraneGO:00058868.0DSC2, DSP, JUP, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1regulation of ventricular cardiac muscle cell action potentialGO:00989119.4DSP, JUP
2adherens junction organizationGO:00343328.8DSP, JUP
3single organismal cell-cell adhesionGO:00163378.5DSP, JUP, PKP2

Sources for Naxos Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet