NXD
MCID: NXS001
MIFTS: 49

Naxos Disease (NXD)

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

Aliases & Classifications for Naxos Disease

MalaCards integrated aliases for Naxos Disease:

Name: Naxos Disease 57 12 75 53 59 74 37 29 13 55 6 40 72
Mal De Naxos 57 53 74
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 57 74
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 57 74
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 57 74
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 59 74
Nxd 57 74
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 53
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 59
Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy 57
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 53
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 59
Keratoderma with Woolly Hair Type I 59
Kwwh Type I 59

Characteristics:

Orphanet epidemiological data:

59
naxos disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
naxos disease:
Clinical modifier sudden death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080551
OMIM 57 601214
KEGG 37 H00669
MESH via Orphanet 45 C538346
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1832600
Orphanet 59 ORPHA34217
MedGen 42 C1832600
UMLS 72 C1832600

Summaries for Naxos Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 34217DefinitionA recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.EpidemiologyNaxos was first described in families originating from the Greek island of Naxos. Moreover, affected families have been identified in other Aegean islands, Turkey, Israel and Saudi Arabia. A syndrome with the same cutaneous phenotype and predominantly left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrome, see this term).Clinical descriptionWoolly hair appears from birth, palmoplantar keratoderma develop during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Patients present with syncope, sustained ventricular tachycardia or sudden death. Symptoms of right heart failure appear during the end stages of the disease. In the Carvajal variant the cardiomyopathy is clinically manifested during childhood leading more frequently to heart failure.EtiologyMutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease. Defects in the linking sites of these proteins can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium and fibro-fatty replacement.Genetic counselingThe disease is transmitted autosomal recessively.Management and treatmentImplantation of an automatic cardioverter defibrillator is indicated for prevention of sudden cardiac death. Antiarrhythmic drugs are used for preventing recurrences of episodes of sustained ventricular tachycardia and classical pharmacological treatment for congestive heart failure, while heart transplantation is considered at the end stages.Visit the Orphanet disease page for more resources.

MalaCards based summary : Naxos Disease, also known as mal de naxos, is related to cardiomyopathy, dilated, with woolly hair and keratoderma and palmoplantar keratosis. An important gene associated with Naxos Disease is JUP (Junction Plakoglobin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Developmental Biology. Affiliated tissues include skin and heart, and related phenotypes are palmoplantar keratoderma and cardiomyopathy

Disease Ontology : 12 A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has material basis in homozygous mutation in the plakoglobin gene on chromosome 17q21.

KEGG : 37
Naxos disease is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy that appears by adolescence.

UniProtKB/Swiss-Prot : 74 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.

Wikipedia : 75 Naxos disease (also known as "Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and... more...

More information 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 44)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, with woolly hair and keratoderma 30.7 PKP2 JUP DSP DSC2
2 palmoplantar keratosis 30.2 JUP DSP
3 left bundle branch hemiblock 30.1 PKP2 JUP
4 palmoplantar keratoderma and woolly hair 29.6 JUP DSP DSC2
5 arrhythmogenic right ventricular cardiomyopathy 29.0 PKP2 JUP DSP DSC2
6 atrial standstill 1 28.9 PKP2 JUP DSP DSC2
7 dilated cardiomyopathy 28.4 PKP2 JUP DSP DSC2
8 woolly hair syndrome 11.7
9 woolly hair, autosomal dominant 11.2
10 hypotrichosis 8 11.2
11 keratoderma with woolly hair 11.2
12 syncope 10.4
13 cardiac conduction defect 10.3
14 congestive heart failure 10.3
15 progressive familial heart block, type ia 10.2
16 keratosis 10.2
17 acute myocarditis 10.2
18 myocarditis 10.2
19 erythrokeratoderma ''en cocardes'' 10.2
20 palmoplantar keratoderma, nonepidermolytic 10.0
21 ventricular fibrillation, paroxysmal familial, 1 10.0
22 cyanosis, transient neonatal 10.0
23 cardiac arrest 10.0
24 middle lobe syndrome 10.0
25 unna-thost palmoplantar keratoderma 10.0
26 rare genetic skin disease 10.0
27 grover's disease 9.7 JUP DSP
28 epidermolysis bullosa, lethal acantholytic 9.7 JUP DSP
29 arrhythmogenic right ventricular dysplasia, familial, 1 9.7 JUP DSP
30 benign chronic pemphigus 9.7 JUP DSP
31 pemphigus 9.6 JUP DSP
32 darier-white disease 9.6 JUP DSP
33 bullous skin disease 9.6 DSP DSC2
34 paraneoplastic pemphigus 9.5 DSP DSC2
35 brugada syndrome 9.4 PKP2 JUP
36 long qt syndrome 1 9.3 PKP2 DSP
37 ectodermal dysplasia/skin fragility syndrome 9.3 JUP DSP DSC2
38 arrhythmogenic right ventricular dysplasia, familial, 9 9.2 PKP2 JUP DSP
39 arrhythmogenic right ventricular dysplasia, familial, 8 9.2 PKP2 JUP DSP
40 left ventricular noncompaction 9.1 PKP2 JUP DSP
41 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.7 PKP2 JUP DSP DSC2
42 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.7 PKP2 JUP DSP DSC2
43 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.7 PKP2 JUP DSP DSC2
44 intrinsic cardiomyopathy 8.7 PKP2 JUP DSP DSC2

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



Diseases related to Naxos Disease

Symptoms & Phenotypes for Naxos Disease

Human phenotypes related to Naxos Disease:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 32 very rare (1%) Very frequent (99-80%) HP:0000982
2 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001638
3 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
4 woolly hair 59 32 very rare (1%) Very frequent (99-80%) HP:0002224
5 paroxysmal ventricular tachycardia 32 hallmark (90%) HP:0004751
6 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
7 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
8 cleft upper lip 59 32 frequent (33%) Frequent (79-30%) HP:0000204
9 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
10 curly hair 59 32 frequent (33%) Frequent (79-30%) HP:0002212
11 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
12 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
13 syncope 32 very rare (1%) HP:0001279
14 ventricular extrasystoles 32 very rare (1%) HP:0006682
15 palpitations 32 very rare (1%) HP:0001962
16 t-wave inversion 32 very rare (1%) HP:0010872
17 prolonged qrs complex 32 very rare (1%) HP:0006677
18 abnormal morphology of right ventricular trabeculae 32 very rare (1%) HP:0031193
19 cardiomegaly 32 HP:0001640
20 arrhythmia 59 Very frequent (99-80%)
21 nail dystrophy 32 HP:0008404
22 dilated cardiomyopathy 32 HP:0001644
23 right bundle branch block 32 HP:0011712
24 acantholysis 32 HP:0100792
25 epidermal acanthosis 32 HP:0025092
26 onycholysis 32 HP:0001806
27 abnormality of hair texture 59 Very frequent (99-80%)
28 episodes of ventricular tachycardia 59 Very frequent (99-80%)
29 fragile skin 32 HP:0001030
30 right ventricular cardiomyopathy 32 HP:0011663
31 sparse and thin eyebrow 32 HP:0000535

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy
sudden death
episodes of ventricular tachycardia
ekg abnormalities
more
Skin Nails Hair Skin:
palmoplantar keratoderma
skin fragility
hyperkeratosis in the area of joints
hyperkeratosis and fissuring around orifices
generalized epidermolysis (rare)

Skin Nails Hair Nails:
onycholysis
curved nails
dystrophic nails

Skin Nails Hair Skin Histology:
hyperkeratosis
acantholysis
acanthosis
widened spaces between keratinocytes
cleavage within the epidermis (rare)

Skin Nails Hair Hair:
curly hair
woolly hair
sparse eyebrows
dense, rough, and bristly hair
sparse to absent scalp hair
more
Skin Nails Hair Skin Electron Microscopy:
widening of intercellular spaces, especially in spinous layer
poorly developed desmosomes
reduced or absent desmosomes
clumping of keratin intermediate filaments
absence of insertion of keratin intermediate filaments

Clinical features from OMIM:

601214

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

26
# 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:

46
# 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:

# Genetic test Affiliating Genes
1 Naxos Disease 29 JUP

Anatomical Context for Naxos Disease

MalaCards organs/tissues related to Naxos Disease:

41
Skin, Heart

Publications for Naxos Disease

Articles related to Naxos Disease:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). 9 38 8 71
10902626 2000
2
Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. 38 8 71
19067702 2009
3
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. 8 71
21668431 2011
4
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. 8 71
21320868 2011
5
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. 8 71
20130592 2010
6
Evidence for extensive locus heterogeneity in Naxos disease. 38 8
11874502 2002
7
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. 8
24671081 2014
8
When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy. 8
24460197 2014
9
Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. 8
11443548 2001
10
Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. 8
8166494 1994
11
Cardiomyopathy with arrhythmias and ectodermal dysplasia: a previously unreported association. 8
3341172 1988
12
Cardiac abnormalities in familial palmoplantar keratosis. 8
2945574 1986
13
Skin and heart: une liaison dangereuse. 9 38
19558499 2009
14
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. 9 38
17924338 2007
15
Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment. 9 38
16698823 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. 9 38
16893920 2006
17
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. 9 38
16722579 2006
18
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? 9 38
16414451 2006
19
Etiopathogenesis of arrhythmogenic right ventricular cardiomyopathy. 9 38
16096717 2005
20
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. 9 38
15210133 2004
21
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). 9 38
15851108 2004
22
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). 9 38
11984022 2002
23
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 9 38
11691526 2001
24
Desmosomes: structure and function in normal and diseased epidermis. 9 38
11476106 2001
25
Naxos disease: from the origin to today. 38
29747658 2018
26
Novel founder mutation in French-Canadian families with Naxos disease. 38
28098346 2017
27
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. 38
27747171 2016
28
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 38
28329610 2016
29
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 38
25824144 2015
30
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. 38
25430408 2015
31
A fishing trip to cure arrhythmogenic cardiomyopathy? 38
26015932 2015
32
Normalization of Naxos plakoglobin levels restores cardiac function in mice. 38
25705887 2015
33
Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challenges. 38
25548613 2014
34
HeartWare LVAD implantation in a patient with a rare ARVD: Carvajal syndrome. 38
25044388 2014
35
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. 38
24187773 2013
36
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. 38
23336952 2013
37
Naxos disease and Carvajal variant. 38
23942402 2013
38
Naxos disease: an unusual cause of cardiomyopathy. 38
23703567 2013
39
How do keratinizing disorders and blistering disorders overlap? 38
23039137 2013
40
Anaesthesia in Naxos disease: first case report. 38
23448613 2013
41
Living after sudden death: A case report of Naxos disease. 38
23559728 2012
42
Lack of plakoglobin in epidermis leads to keratoderma. 38
22315228 2012
43
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. 38
21640403 2012
44
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. 38
22572432 2012
45
Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. 38
21880664 2011
46
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. 38
21789513 2011
47
Naxos disease in two siblings. 38
21188028 2010
48
The discovery of Naxos disease. 38
19891084 2009
49
Naxos disease presenting with ventricular tachycardia and troponin elevation. 38
19165571 2009
50
Disparate effects of different mutations in plakoglobin on cell mechanical behavior. 38
18937352 2008

Variations for Naxos Disease

ClinVar genetic disease variations for Naxos Disease:

6 (show top 50) (show all 216)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 JUP NM_002230.4(JUP): c.188del (p.Gln63fs) deletion Pathogenic rs1555606936 17:39927919-39927919 17:41771667-41771667
2 JUP NM_002230.4(JUP): c.2038_2039del (p.Trp680fs) deletion Pathogenic rs113994177 17:39913674-39913675 17:41757422-41757423
3 JUP NM_002230.4(JUP): c.71C> A (p.Ser24Ter) single nucleotide variant Pathogenic rs782460555 17:39928036-39928036 17:41771784-41771784
4 JUP NM_002230.4(JUP): c.468G> A (p.Pro156=) single nucleotide variant Pathogenic rs886037753 17:39925670-39925670 17:41769418-41769418
5 JUP NM_002230.4(JUP): c.1615C> T (p.Gln539Ter) single nucleotide variant Pathogenic rs797046139 17:39915005-39915005 17:41758753-41758753
6 JUP NM_002230.4(JUP): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic rs782440692 17:39923746-39923746 17:41767494-41767494
7 JUP NM_002230.4(JUP): c.1455_1462del (p.Val486fs) deletion Pathogenic 17:39919270-39919277 17:41763018-41763025
8 JUP NM_002230.4(JUP): c.1807del (p.Val603fs) deletion Pathogenic 17:39914003-39914003 17:41757751-41757751
9 JUP NM_002230.4(JUP): c.1924+1G> A single nucleotide variant Likely pathogenic 17:39913885-39913885 17:41757633-41757633
10 JUP NM_002230.4(JUP): c.208+1G> A single nucleotide variant Likely pathogenic 17:39927898-39927898 17:41771646-41771646
11 JUP NM_002230.4(JUP): c.1806C> T (p.Arg602=) single nucleotide variant Conflicting interpretations of pathogenicity rs781934535 17:39914004-39914004 17:41757752-41757752
12 JUP NM_002230.4(JUP): c.1055-14del deletion Conflicting interpretations of pathogenicity rs140002183 17:39921082-39921082 17:41764830-41764830
13 JUP NM_002230.4(JUP): c.1854C> T (p.Ala618=) single nucleotide variant Conflicting interpretations of pathogenicity rs782176670 17:39913956-39913956 17:41757704-41757704
14 JUP NM_002230.4(JUP): c.1366G> A (p.Val456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78437817 17:39919366-39919366 17:41763114-41763114
15 JUP NM_002230.4(JUP): c.902A> G (p.Glu301Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs782058451 17:39923638-39923638 17:41767386-41767386
16 JUP NM_002230.4(JUP): c.546G> A (p.Ser182=) single nucleotide variant Conflicting interpretations of pathogenicity rs202038498 17:39925382-39925382 17:41769130-41769130
17 JUP NM_002230.4(JUP): c.1054+7A> T single nucleotide variant Conflicting interpretations of pathogenicity rs371988639 17:39921168-39921168 17:41764916-41764916
18 JUP NM_002230.4(JUP): c.2086+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199935213 17:39912414-39912414 17:41756162-41756162
19 JUP NM_002230.4(JUP): c.1824G> A (p.Leu608=) single nucleotide variant Conflicting interpretations of pathogenicity rs376043057 17:39913986-39913986 17:41757734-41757734
20 JUP NM_002230.4(JUP): c.708-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201313464 17:39923836-39923836 17:41767584-41767584
21 JUP NM_002230.4(JUP): c.1989C> T (p.Arg663=) single nucleotide variant Conflicting interpretations of pathogenicity rs145175985 17:39913724-39913724 17:41757472-41757472
22 JUP NM_002230.4(JUP): c.1910G> A (p.Arg637His) single nucleotide variant Conflicting interpretations of pathogenicity rs142095597 17:39913900-39913900 17:41757648-41757648
23 JUP NM_002230.4(JUP): c.1172G> A (p.Ser391Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199826380 17:39919560-39919560 17:41763308-41763308
24 JUP NM_002230.4(JUP): c.909+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922705 17:39923625-39923625 17:41767373-41767373
25 JUP NM_002230.4(JUP): c.1377G> T (p.Leu459=) single nucleotide variant Conflicting interpretations of pathogenicity rs147370522 17:39919355-39919355 17:41763103-41763103
26 JUP NM_002230.4(JUP): c.192G> A (p.Gly64=) single nucleotide variant Conflicting interpretations of pathogenicity rs141237794 17:39927915-39927915 17:41771663-41771663
27 JUP NM_002230.4(JUP): c.1507G> A (p.Gly503Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs376051686 17:39915113-39915113 17:41758861-41758861
28 JUP NM_002230.4(JUP): c.568G> C (p.Val190Leu) single nucleotide variant Uncertain significance rs370143312 17:39925360-39925360 17:41769108-41769108
29 JUP NM_002230.4(JUP): c.494T> C (p.Ile165Thr) single nucleotide variant Uncertain significance rs1254146503 17:39925434-39925434 17:41769182-41769182
30 JUP NM_002230.4(JUP): c.1982G> A (p.Arg661Gln) single nucleotide variant Uncertain significance rs555499592 17:39913731-39913731 17:41757479-41757479
31 JUP NM_002230.4(JUP): c.1873G> C (p.Gly625Arg) single nucleotide variant Uncertain significance rs1060502678 17:39913937-39913937 17:41757685-41757685
32 JUP NM_002230.4(JUP): c.2128C> T (p.Pro710Ser) single nucleotide variant Uncertain significance rs782693565 17:39912106-39912106 17:41755854-41755854
33 JUP NM_002230.4(JUP): c.1729C> T (p.Arg577Cys) single nucleotide variant Uncertain significance rs782354654 17:39914695-39914695 17:41758443-41758443
34 JUP NM_002230.4(JUP): c.1556A> T (p.Gln519Leu) single nucleotide variant Uncertain significance rs1060502677 17:39915064-39915064 17:41758812-41758812
35 JUP NM_002230.4(JUP): c.1372G> A (p.Ala458Thr) single nucleotide variant Uncertain significance rs139559495 17:39919360-39919360 17:41763108-41763108
36 JUP NM_002230.4(JUP): c.274G> T (p.Gly92Cys) single nucleotide variant Uncertain significance rs781875765 17:39925864-39925864 17:41769612-41769612
37 JUP NM_002230.4(JUP): c.475G> T (p.Val159Leu) single nucleotide variant Uncertain significance rs782702266 17:39925453-39925453 17:41769201-41769201
38 JUP NM_002230.4(JUP): c.275G> A (p.Gly92Asp) single nucleotide variant Uncertain significance rs782737074 17:39925863-39925863 17:41769611-41769611
39 JUP NM_002230.4(JUP): c.253G> C (p.Val85Leu) single nucleotide variant Uncertain significance rs782425952 17:39925885-39925885 17:41769633-41769633
40 JUP NM_002230.4(JUP): c.1714C> T (p.Arg572Trp) single nucleotide variant Uncertain significance rs559297418 17:39914710-39914710 17:41758458-41758458
41 JUP NM_002230.4(JUP): c.2087-5C> T single nucleotide variant Uncertain significance rs886052917 17:39912152-39912152 17:41755900-41755900
42 JUP NM_002230.4(JUP): c.1718A> T (p.Asp573Val) single nucleotide variant Uncertain significance rs886052918 17:39914706-39914706 17:41758454-41758454
43 JUP NM_002230.4(JUP): c.708-12C> G single nucleotide variant Uncertain significance rs781970079 17:39923844-39923844 17:41767592-41767592
44 JUP NM_002230.4(JUP): c.*771G> C single nucleotide variant Uncertain significance rs569650118 17:39911225-39911225 17:41754973-41754973
45 JUP NM_002230.4(JUP): c.257G> A (p.Arg86Gln) single nucleotide variant Uncertain significance rs782341732 17:39925881-39925881 17:41769629-41769629
46 JUP NM_002230.4(JUP): c.389_391TCA[1] (p.Ile131del) short repeat Uncertain significance rs781818082 17:39925744-39925746 17:41769492-41769494
47 JUP NM_002230.4(JUP): c.1129C> A (p.Arg377Ser) single nucleotide variant Uncertain significance rs368564000 17:39920994-39920994 17:41764742-41764742
48 JUP NM_002230.4(JUP): c.1565C> T (p.Ala522Val) single nucleotide variant Uncertain significance rs1060502679 17:39915055-39915055 17:41758803-41758803
49 JUP NM_002230.4(JUP): c.1280C> T (p.Thr427Met) single nucleotide variant Uncertain significance rs781982717 17:39919452-39919452 17:41763200-41763200
50 JUP NM_002230.4(JUP): c.1232C> T (p.Ala411Val) single nucleotide variant Uncertain significance rs1060502680 17:39919500-39919500 17:41763248-41763248

Expression for Naxos Disease

Search GEO for disease gene expression data for Naxos Disease.

Pathways for Naxos Disease

Pathways related to Naxos Disease according to KEGG:

37
# Name Kegg Source Accession
1 Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412

Pathways related to Naxos Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 PKP2 JUP DSP DSC2
2
Show member pathways
11.71 PKP2 JUP DSP DSC2
3 11.49 JUP DSP
4
Show member pathways
11.4 PKP2 DSP
5
Show member pathways
11.11 PKP2 JUP DSP DSC2
6 11.07 JUP DSP
7 10.66 JUP DSP

GO Terms for Naxos Disease

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.67 PKP2 JUP DSP DSC2
2 intermediate filament GO:0005882 9.61 PKP2 JUP DSP
3 cell-cell junction GO:0005911 9.58 PKP2 JUP DSP
4 adherens junction GO:0005912 9.46 PKP2 JUP
5 cornified envelope GO:0001533 9.46 PKP2 JUP DSP DSC2
6 cell-cell adherens junction GO:0005913 9.43 PKP2 JUP DSC2
7 fascia adherens GO:0005916 9.32 JUP DSP
8 intercalated disc GO:0014704 9.26 PKP2 JUP DSP DSC2
9 desmosome GO:0030057 8.92 PKP2 JUP DSP DSC2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.65 PKP2 JUP DSC2
2 keratinization GO:0031424 9.62 PKP2 JUP DSP DSC2
3 cell-cell adhesion GO:0098609 9.58 PKP2 JUP DSP
4 cornification GO:0070268 9.56 PKP2 JUP DSP DSC2
5 protein localization to plasma membrane GO:0072659 9.49 PKP2 JUP
6 skin development GO:0043588 9.46 JUP DSP
7 regulation of heart rate by cardiac conduction GO:0086091 9.46 PKP2 JUP DSP DSC2
8 adherens junction organization GO:0034332 9.43 JUP DSP
9 desmosome assembly GO:0002159 9.37 PKP2 JUP
10 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.26 PKP2 JUP DSP DSC2
11 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.92 PKP2 JUP DSP DSC2

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

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

Sources for Naxos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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