NXD
MCID: NXS001
MIFTS: 46

Naxos Disease (NXD) malady

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

Aliases & Classifications for Naxos Disease

Aliases & Descriptions for Naxos Disease:

Name: Naxos Disease 54 50 24 56 66 29 13 52 69
Mal De Naxos 50 24 66
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 56 66
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 66
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 66
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 50
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 66
Woolly Hair, Palmoplantar Keratoderma and Cardiac Abnormalities 24
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 56
Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy 24
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 50
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 56
Keratoderma with Woolly Hair Type I 56
Kwwh Type I 56
Nxd 66

Characteristics:

Orphanet epidemiological data:

56
naxos disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
naxos disease:
Mortality/Aging sudden death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 601214
Orphanet 56 ORPHA34217
MESH via Orphanet 43 C538346
UMLS via Orphanet 70 C1832600
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1832600

Summaries for Naxos Disease

UniProtKB/Swiss-Prot : 66 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 woolly hair, autosomal dominant and hypotrichosis 8, and has symptoms including vertigo, hyperhidrosis and sudden cardiac death. An important gene associated with Naxos Disease is JUP (Junction Plakoglobin), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin and heart, and related phenotypes are Decreased NF-kappaB reporter expression and cardiovascular system

Wikipedia : 71 Naxos disease (also known as \"Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

Description from OMIM: 601214

Related Diseases for Naxos Disease

Diseases related to Naxos Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
id Related Disease Score Top Affiliating Genes
1 woolly hair, autosomal dominant 10.8
2 hypotrichosis 8 10.8
3 cardiomyopathy 10.3
4 arrhythmogenic right ventricular cardiomyopathy 10.2
5 branchiooculofacial syndrome 9.9 DSP JUP
6 antley-bixler syndrome 9.9 JUP PKP2
7 skin fragility-woolly hair syndrome 9.9 DSP JUP
8 gupta patton syndrome 9.9 DSP JUP
9 palmoplantar keratoderma and woolly hair 9.9
10 chromosome 15q11-q13 duplication syndrome 9.9 DSP JUP
11 carotid artery thrombosis 9.9 DSP JUP
12 folinic acid-responsive seizures 9.8 DSC2 DSP
13 pol iii-related leukodystrophies 9.8 DSP JUP
14 codas syndrome 9.8 DSC2 DSP JUP
15 choanal atresia and lymphedema 9.7 DSC2 DSP JUP
16 acute myocarditis 9.7
17 myocarditis 9.7
18 lipoma 9.7 DSC2 DSP JUP
19 sed, maroteaux type 9.7 DSC2 DSP JUP
20 pompholyx 9.7 DSP JUP
21 pallister-killian syndrome 9.7 DSP JUP PKP2
22 epidermolysis bullosa, lethal acantholytic 9.7 DSP JUP PKP2
23 ventricular tachycardia, catecholaminergic polymorphic, 4 9.7 DSP JUP PKP2
24 klippel-feil syndrome 2 9.5 DSC2 DSP JUP PKP2
25 fibular hemimelia, bilateral 9.5 DSC2 DSP JUP PKP2
26 fibular hemimelia, unilateral 9.5 DSC2 DSP JUP PKP2
27 congenital absence of upper arm and forearm with hand present, bilateral 9.5 DSC2 DSP JUP PKP2
28 pervasive developmental disorder 9.5 DSC2 DSP JUP PKP2
29 familial partial lipodystrophy 9.5 DSC2 DSP JUP PKP2
30 cdkl5-related angelman-like syndrome 9.5 DSC2 DSP JUP PKP2

Graphical network of the top 20 diseases related to Naxos Disease:



Diseases related to Naxos Disease

Symptoms & Phenotypes for Naxos Disease

Symptoms by clinical synopsis from OMIM:

601214

Clinical features from OMIM:

601214

Human phenotypes related to Naxos Disease:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vertigo 56 32 Very frequent (99-80%) HP:0002321
2 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
3 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
4 palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0000982
5 acanthosis nigricans 56 32 Occasional (29-5%) HP:0000956
6 congestive heart failure 56 32 Frequent (79-30%) HP:0001635
7 cardiomyopathy 56 32 Very frequent (99-80%) HP:0001638
8 sparse scalp hair 56 32 Frequent (79-30%) HP:0002209
9 cleft upper lip 56 32 Frequent (79-30%) HP:0000204
10 woolly hair 56 32 Very frequent (99-80%) HP:0002224
11 curly hair 56 32 Frequent (79-30%) HP:0002212
12 episodes of ventricular tachycardia 56 32 Very frequent (99-80%) HP:0005141
13 cardiomegaly 32 HP:0001640
14 arrhythmia 56 Very frequent (99-80%)
15 nail dystrophy 32 HP:0008404
16 dilated cardiomyopathy 32 HP:0001644
17 acantholysis 32 HP:0100792
18 onycholysis 32 HP:0001806
19 abnormality of hair texture 56 Very frequent (99-80%)
20 fragile skin 32 HP:0001030
21 sparse and thin eyebrow 32 HP:0000535

GenomeRNAi Phenotypes related to Naxos Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NF-kappaB reporter expression GR00312-A 8.92 DSC2 DSP JUP PKP2

MGI Mouse Phenotypes related to Naxos Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.92 DSC2 DSP JUP PKP2

Drugs & Therapeutics for Naxos Disease

Search Clinical Trials , NIH Clinical Center for Naxos Disease

Genetic Tests for Naxos Disease

Genetic tests related to Naxos Disease:

id Genetic test Affiliating Genes
1 Naxos Disease 29 24 JUP

Anatomical Context for Naxos Disease

MalaCards organs/tissues related to Naxos Disease:

39
Skin, Heart

Publications for Naxos Disease

Articles related to Naxos Disease:

(show all 36)
id Title Authors Year
1
Novel founder mutation in French-Canadian families with Naxos disease. ( 28098346 )
2017
2
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. ( 28329610 )
2016
3
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. ( 27747171 )
2016
4
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. ( 25430408 )
2014
5
Naxos disease: an unusual cause of cardiomyopathy. ( 23703567 )
2013
6
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. ( 23336952 )
2013
7
Naxos disease and Carvajal variant. ( 23942402 )
2013
8
Anaesthesia in Naxos disease: first case report. ( 23448613 )
2013
9
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. ( 24187773 )
2013
10
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. ( 21640403 )
2012
11
Living after sudden death: A case report of Naxos disease. ( 23559728 )
2012
12
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. ( 22572432 )
2012
13
Naxos disease in two siblings. ( 21188028 )
2010
14
Naxos disease presenting with ventricular tachycardia and troponin elevation. ( 19165571 )
2009
15
The discovery of Naxos disease. ( 19891084 )
2009
16
Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. ( 18187826 )
2008
17
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). ( 17998464 )
2007
18
Naxos disease. ( 16816500 )
2006
19
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
20
Images in cardiovascular medicine. Ventricular tachycardia: the spectrum continues to broaden: report of Naxos disease. ( 16864732 )
2006
21
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. ( 16722579 )
2006
22
Naxos disease. ( 16943947 )
2005
23
Naxos disease in Saudi Arabia. ( 15324409 )
2004
24
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). ( 15851108 )
2004
25
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. ( 15210133 )
2004
26
Naxos disease in an Arab family is not caused by the Pk2157del2 mutation. Evidence for exclusion of the plakoglobin gene. ( 15494820 )
2004
27
Naxos disease. ( 14618065 )
2003
28
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. ( 14675023 )
2003
29
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). ( 11984022 )
2002
30
Evidence for extensive locus heterogeneity in Naxos disease. ( 11874502 )
2002
31
Myelodysplasia and Naxos disease: a novel pathogenetic association? ( 12399983 )
2002
32
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. ( 11691526 )
2001
33
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. ( 11174397 )
2001
34
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). ( 10902626 )
2000
35
Implantable defibrillator therapy in Naxos disease. ( 10914377 )
2000
36
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

ClinVar genetic disease variations for Naxos Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 JUP NM_002230.2(JUP): c.2038_2039delTG (p.Trp680Glyfs) deletion Pathogenic rs113994177 GRCh37 Chromosome 17, 39913674: 39913675
2 JUP NM_002230.2(JUP): c.71C> A (p.Ser24Ter) single nucleotide variant Pathogenic rs782460555 GRCh37 Chromosome 17, 39928036: 39928036
3 JUP NM_002230.2(JUP): c.468G> A (p.Pro156=) single nucleotide variant Pathogenic rs886037753 GRCh37 Chromosome 17, 39925670: 39925670
4 JUP NM_002230.2(JUP): c.1615C> T (p.Gln539Ter) single nucleotide variant Pathogenic rs797046139 GRCh37 Chromosome 17, 39915005: 39915005
5 JUP NM_002230.2(JUP): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic rs782440692 GRCh38 Chromosome 17, 41767494: 41767494

Expression for Naxos Disease

Search GEO for disease gene expression data for Naxos Disease.

Pathways for Naxos Disease

GO Terms for Naxos Disease

Cellular components related to Naxos Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.62 DSC2 DSP JUP PKP2
2 intermediate filament GO:0005882 9.58 DSP JUP PKP2
3 cell-cell junction GO:0005911 9.54 DSP JUP PKP2
4 cell-cell adherens junction GO:0005913 9.46 DSC2 JUP
5 cornified envelope GO:0001533 9.46 DSC2 DSP JUP PKP2
6 adherens junction GO:0005912 9.43 JUP PKP2
7 fascia adherens GO:0005916 9.26 DSP JUP
8 intercalated disc GO:0014704 9.26 DSC2 DSP JUP PKP2
9 desmosome GO:0030057 8.92 DSC2 DSP JUP PKP2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.67 DSC2 JUP PKP2
2 keratinization GO:0031424 9.62 DSC2 DSP JUP PKP2
3 single organismal cell-cell adhesion GO:0016337 9.58 DSP JUP PKP2
4 cornification GO:0070268 9.56 DSC2 DSP JUP PKP2
5 skin development GO:0043588 9.48 DSP JUP
6 establishment of protein localization to plasma membrane GO:0090002 9.46 JUP PKP2
7 regulation of heart rate by cardiac conduction GO:0086091 9.46 DSC2 DSP JUP PKP2
8 adherens junction organization GO:0034332 9.43 DSP JUP
9 desmosome assembly GO:0002159 9.37 JUP PKP2
10 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.26 DSC2 DSP JUP PKP2
11 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.92 DSC2 DSP JUP PKP2

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.32 DSP JUP
2 cell adhesion molecule binding GO:0050839 9.26 DSP JUP
3 protein kinase C binding GO:0005080 9.16 DSP PKP2
4 alpha-catenin binding GO:0045294 8.96 JUP PKP2
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.92 DSC2 DSP JUP PKP2

Sources for Naxos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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