MCID: NXS001
MIFTS: 47

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 woolly hair, autosomal dominant and hypotrichosis 8, 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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Diseases related to Naxos Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1woolly hair, autosomal dominant10.3
2hypotrichosis 810.3
3neuronitis10.3
4asthma10.1
5moyamoya disease10.1
6crohn's disease10.1
7ileitis10.1
8x-linked chondrodysplasia punctata10.1
9sparganosis10.1
10rabies10.1
11onchocerciasis10.1
12chagas disease10.1
13paracoccidioidomycosis10.1
14chondrodysplasia punctata10.1
15tropical spastic paraparesis10.1
16retinitis10.1
17retinal detachment10.1
18vipoma10.1
19thymic dysplasia10.1
20macular holes10.1
21leishmaniasis10.1
22visceral leishmaniasis10.1
23achalasia10.1
24mycobacterium kansasii10.1
25spastic paraparesis10.1
26tarlov cysts10.1
27cardiomyopathy10.1
28spasticity10.1
29dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis9.8DSP, JUP
30arrhythmogenic right ventricular dysplasia 89.8DSP, JUP
31peri-anal fistula9.7DSP, JUP
32vestibule of mouth cancer9.7DSP, JUP
33ichthyosis-hypotrichosis-sclerosing cholangitis syndrome9.7DSC2, DSP
34inappropriate adh syndrome9.6DSP, JUP
35hypercholesterolemia, familial9.5DSC2, DSP, JUP
36hay-wells syndrome9.5DSC2, DSP, JUP
37neuropathy, distal hereditary motor, type iia9.5DSC2, DSP, JUP
38auriculocondylar syndrome 39.4DSP, PKP2
39familial isolated arrhythmogenic ventricular dysplasia, left dominant form9.2DSC2, DSP, JUP, PKP2
40frontotemporal dementia, right temporal atrophy variant9.2DSC2, DSP, JUP, PKP2
41mitf-related melanoma and renal cell carcinoma predisposition syndrome9.2DSC2, DSP, JUP, PKP2
42arrhythmogenic right ventricular dysplasia 129.2DSC2, DSP, JUP, PKP2
43specific developmental disorder9.1DSC2, DSP, JUP, PKP2
44asperger syndrome9.1DSC2, DSP, JUP, PKP2
45cardiomyopathy with or without skeletal myopathy9.1DSC2, DSP, JUP, PKP2

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
Heparanase-mediated cleavage of macromolecular heparin accelerates release of granular components of mast cells from extracellular matrices. (24344642)
2014
2
Lamivudine resistance leading to de novo hepatitis B infection in recipients of hepatitis B core antibody positive liver allografts. (24107139)
2013
3
Pregnenolone sulphate- and cholesterol-regulated TRPM3 channels coupled to vascular smooth muscle secretion and contraction. (20360246)
2010
4
Dexamethasone enhances trichosanthin-induced apoptosis in the HepG2 hepatoma cell line. (19891978)
2010
5
Anesthesia management for emergency laparotomy in a pediatric patient with suspected hereditary angioedema. (20052501)
2010
6
Ureterocele misdiagnosed as pelvic inflammatory disease in an adolescent. (19155943)
2009
7
The Factor V Leiden mutation is associated with a higher blood haemoglobin concentration in women below 50 of the MalmAP Thrombophilia Study (MATS). (19023521)
2009
8
Thymic carcinoma in myasthenia gravis developing years after thymectomy. (19533649)
2009
9
Multicentric reticulohistiocytosis: a systemic osteoclastic disease? (18311766)
2008
10
Effects of ApoE genotype and mild cognitive impairment on implicit learning. (16701920)
2007
11
High-throughput liquid chromatographic-tandem mass spectrometric determination of arginine and dimethylated arginine derivatives in human and mouse plasma. (17194630)
2007
12
Evaluation of AIbZIP and Cdc47 as markers for human prostatic diseases. (17270658)
2007
13
Expression of seprase in effusions from patients with epithelial ovarian carcinoma. (17517181)
2007
14
Aromatase expression in uterine leiomyomata is regulated primarily by proximal promoters I.3/II. (17341559)
2007
15
Childhood oral mucous membrane pemphigoid presenting as desquamative gingivitis in a 4-year-old girl. (16874424)
2006
16
Cor triatriatum sinister with and without left ventricular inflow obstruction: visualization of the entire supravalvular membrane by real-time three-dimensional echocardiography. Impact on clinical management of individual patient. (18377505)
2006
17
Transcriptional regulation of human and murine 17beta-hydroxysteroid dehydrogenase type-7 confers its participation in cholesterol biosynthesis. (16901934)
2006
18
Genes and environment in susceptibility to visceral leishmaniasis. (17067929)
2006
19
n-3 PUFAs modulate T-cell activation via protein kinase C-alpha and -epsilon and the NF-kappaB signaling pathway. (15627650)
2005
20
Chemistry-based design of inhibitors for carboxypeptidase A. (15320722)
2004
21
Importance of lipoprotein metabolism parameters in the clinical and angiographic severity of coronary artery disease. (10961093)
2000
22
Common anemias in neonatology]. (10067373)
1999
23
Vascular endothelial growth factor in serum and in the follicular fluid of patients undergoing hormonal stimulation for in-vitro fertilization. (9886505)
1998
24
Neuroaspergillosis and brain tuberculosis in an immunocompetent patient with good outcome. (9527169)
1998
25
Prevention of aspiration pneumonia: a research-based protocol. (8697946)
1996
26
An analysis of the costs of alternative treatments for benign prostatic hypertrophy. (8544151)
1995
27
Structure and expression of human and rat D2 dopamine receptor genes. (1363862)
1992
28
Systemic mastocytosis--case report and literature review. (3325540)
1987
29
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. (3594933)
1987
30
Epidemiologic aspects of biliary tract cancer in Japan. (537628)
1979
31
Corneal contact lenses: their value in severe anisometropia in children. (13916714)
1961
32
Beriberi heart disease in the elderly patient. (14400982)
1960
33
A transplantable ovarian papillary adenocarcinoma of the rat with ascites implants in the ovary. (12991049)
1952

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