MCID: NXS001
MIFTS: 40

Naxos Disease malady

Skin diseases, Cardiovascular diseases categories

Summaries for Naxos Disease

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 hair disease 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 skin and heart.

Description from OMIM:46 601214

Aliases & Classifications for Naxos Disease

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases, Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

naxos disease 42 20 22 46 44 48 60
keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair 42
palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy 48
woolly hair palmoplantar keratoderma cardiac abnormalities 42
palmoplantar keratoderma with arrythmogenic cardiomyopathy 48
keratosis palmoplantaris with arrythmogenic cardiomyopathy 48
mal de naxos 42


External Ids:

OMIM46 601214
MESH via Orphanet35 C538346
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1832600

Related Diseases for Naxos Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Naxos Disease:



Diseases related to naxos disease

Clinical Features for Naxos Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

601214

Clinical synopsis from OMIM:

601214

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Naxos Disease

Drug clinical trials:

Search ClinicalTrials for Naxos Disease

Search NIH Clinical Center for Naxos Disease

Search CenterWatch for Naxos Disease

Genetic Tests for Naxos Disease

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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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32MalaCards
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MalaCards organs/tissues related to Naxos Disease:

32
Skin, Heart

Animal Models for Naxos Disease or affiliated genes

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Publications for Naxos Disease

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Genetic Variations for Naxos Disease

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Expression for genes affiliated with Naxos Disease

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Sources:
1BioGPS, 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:
4Cell Signaling Technology, 12EMD Millipore, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Naxos Disease

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Naxos Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sucrose44 11 2411.1DSP, JUP
2ryanodine44 28 5910.8DSP, 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:0059139.4JUP, DSC2
2cell-cell junctionGO:0059119.2PKP2, JUP
3basolateral plasma membraneGO:0163238.8DSP, JUP
4intercalated discGO:0147048.6JUP, PKP2, DSP
5intermediate filamentGO:0058828.6DSP, PKP2, JUP
6desmosomeGO:0300578.1DSC2, DSP, PKP2, JUP
7plasma membraneGO:0058868.0DSC2, DSP, PKP2, JUP

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

idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:0021599.2PKP2, JUP
2adherens junction organizationGO:0343329.1DSP, JUP
3cell-cell adhesionGO:0163378.2DSP, PKP2, JUP
4bundle of His cell to Purkinje myocyte communicationGO:0860698.1DSC2, DSP, PKP2, JUP
5regulation of ventricular cardiac muscle cell action potentialGO:0860058.1JUP, PKP2, DSP, DSC2
6regulation of heart rate by cardiac conductionGO:0860918.0JUP, PKP2, DSP, DSC2

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1DSP, JUP
2protein kinase C bindingGO:0050808.7DSP, PKP2

Products for genes affiliated with Naxos Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet