MCID: NXS001
MIFTS: 47

Naxos Disease

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

Aliases & Classifications for Naxos Disease

MalaCards integrated aliases for Naxos Disease:

Name: Naxos Disease 57 76 53 59 75 37 29 13 55 6 40 73
Mal De Naxos 57 53 75
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 57 75
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 57 75
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 57 75
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 59 75
Nxd 57 75
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:
Mortality/Aging sudden death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


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: 34217Disease definitionNaxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.EpidemiologyThe disease 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 cleft upper lip and acanthosis nigricans

UniProtKB/Swiss-Prot : 75 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 : 76 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)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, with woolly hair and keratoderma 31.2 DSP JUP
2 palmoplantar keratosis 29.2 DSP JUP
3 palmoplantar keratoderma and woolly hair 28.6 DSC2 DSP JUP
4 arrhythmogenic right ventricular cardiomyopathy 28.0 DSC2 DSP JUP PKP2
5 woolly hair syndrome 11.4
6 woolly hair, autosomal dominant 10.9
7 hypotrichosis 8 10.9
8 palmoplantar keratoderma, nonepidermolytic 9.8
9 acute myocarditis 9.8
10 myocarditis 9.8
11 unna-thost palmoplantar keratoderma 9.8
12 grover's disease 9.6 DSP JUP
13 epidermolysis bullosa, lethal acantholytic 9.6 DSP JUP
14 benign chronic pemphigus 9.6 DSP JUP
15 darier-white disease 9.5 DSP JUP
16 paraneoplastic pemphigus 9.5 DSC2 DSP
17 pemphigus vulgaris 9.3 DSP JUP
18 brugada syndrome 9.2 JUP PKP2
19 pemphigus 9.2 DSP JUP
20 ectodermal dysplasia/skin fragility syndrome 9.1 DSC2 DSP JUP
21 arrhythmogenic right ventricular dysplasia, familial, 9 9.0 DSP JUP PKP2
22 arrhythmogenic right ventricular dysplasia, familial, 8 9.0 DSP JUP PKP2
23 arrhythmogenic right ventricular dysplasia, familial, 1 8.9 DSP JUP PKP2
24 left ventricular noncompaction 8.9 DSP JUP PKP2
25 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.4 DSC2 DSP JUP PKP2
26 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.4 DSC2 DSP JUP PKP2
27 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.4 DSC2 DSP JUP PKP2
28 intrinsic cardiomyopathy 8.4 DSC2 DSP JUP PKP2
29 atrial standstill 1 8.4 DSC2 DSP JUP PKP2
30 dilated cardiomyopathy 8.3 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 via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomegaly
sudden death
dilated cardiomyopathy
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

Human phenotypes related to Naxos Disease:

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

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 all 37)
# Title Authors Year
1
Naxos disease: from the origin to today. ( 29747658 )
2018
2
Novel founder mutation in French-Canadian families with Naxos disease. ( 28098346 )
2017
3
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. ( 28329610 )
2016
4
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. ( 27747171 )
2016
5
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. ( 25430408 )
2014
6
Anaesthesia in Naxos disease: first case report. ( 23448613 )
2013
7
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. ( 23336952 )
2013
8
Naxos disease and Carvajal variant. ( 23942402 )
2013
9
Naxos disease: an unusual cause of cardiomyopathy. ( 23703567 )
2013
10
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. ( 24187773 )
2013
11
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. ( 22572432 )
2012
12
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. ( 21640403 )
2012
13
Living after sudden death: A case report of Naxos disease. ( 23559728 )
2012
14
Naxos disease in two siblings. ( 21188028 )
2010
15
Naxos disease presenting with ventricular tachycardia and troponin elevation. ( 19165571 )
2009
16
The discovery of Naxos disease. ( 19891084 )
2009
17
Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. ( 18187826 )
2008
18
Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). ( 17998464 )
2007
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
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. ( 16722579 )
2006
21
Naxos disease. ( 16816500 )
2006
22
Images in cardiovascular medicine. Ventricular tachycardia: the spectrum continues to broaden: report of Naxos disease. ( 16864732 )
2006
23
Naxos disease. ( 16943947 )
2005
24
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). ( 15851108 )
2004
25
Naxos disease in Saudi Arabia. ( 15324409 )
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 and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. ( 15210133 )
2004
28
Naxos disease. ( 14618065 )
2003
29
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. ( 14675023 )
2003
30
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). ( 11984022 )
2002
31
Myelodysplasia and Naxos disease: a novel pathogenetic association? ( 12399983 )
2002
32
Evidence for extensive locus heterogeneity in Naxos disease. ( 11874502 )
2002
33
Naxos disease: keratoderma, scalp modifications, and cardiomyopathy. ( 11174397 )
2001
34
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. ( 11691526 )
2001
35
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). ( 10902626 )
2000
36
Implantable defibrillator therapy in Naxos disease. ( 10914377 )
2000
37
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
(show top 50) (show all 274)
# 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.2038_2039delTG (p.Trp680Glyfs) deletion Pathogenic rs113994177 GRCh38 Chromosome 17, 41757422: 41757423
3 JUP NM_002230.2(JUP): c.1035G> C (p.Lys345Asn) single nucleotide variant Uncertain significance rs150194093 GRCh37 Chromosome 17, 39921194: 39921194
4 JUP NM_002230.2(JUP): c.1035G> C (p.Lys345Asn) single nucleotide variant Uncertain significance rs150194093 GRCh38 Chromosome 17, 41764942: 41764942
5 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh37 Chromosome 17, 39912444: 39912444
6 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh38 Chromosome 17, 41756192: 41756192
7 JUP NM_002230.2(JUP): c.1213G> A (p.Val405Ile) single nucleotide variant Uncertain significance rs200019016 GRCh37 Chromosome 17, 39919519: 39919519
8 JUP NM_002230.2(JUP): c.1213G> A (p.Val405Ile) single nucleotide variant Uncertain significance rs200019016 GRCh38 Chromosome 17, 41763267: 41763267
9 JUP NM_002230.2(JUP): c.945C> T (p.Leu315=) single nucleotide variant Likely benign rs146804895 GRCh37 Chromosome 17, 39921284: 39921284
10 JUP NM_002230.2(JUP): c.945C> T (p.Leu315=) single nucleotide variant Likely benign rs146804895 GRCh38 Chromosome 17, 41765032: 41765032
11 JUP NM_002230.2(JUP): c.801C> T (p.Ala267=) single nucleotide variant Likely benign rs138397457 GRCh37 Chromosome 17, 39923739: 39923739
12 JUP NM_002230.2(JUP): c.801C> T (p.Ala267=) single nucleotide variant Likely benign rs138397457 GRCh38 Chromosome 17, 41767487: 41767487
13 JUP NM_002230.2(JUP): c.527G> A (p.Arg176Gln) single nucleotide variant Benign rs144171604 GRCh37 Chromosome 17, 39925401: 39925401
14 JUP NM_002230.2(JUP): c.527G> A (p.Arg176Gln) single nucleotide variant Benign rs144171604 GRCh38 Chromosome 17, 41769149: 41769149
15 JUP NM_002230.2(JUP): c.1989C> T (p.Arg663=) single nucleotide variant Conflicting interpretations of pathogenicity rs145175985 GRCh37 Chromosome 17, 39913724: 39913724
16 JUP NM_002230.2(JUP): c.1989C> T (p.Arg663=) single nucleotide variant Conflicting interpretations of pathogenicity rs145175985 GRCh38 Chromosome 17, 41757472: 41757472
17 JUP NM_002230.2(JUP): c.1910G> A (p.Arg637His) single nucleotide variant Conflicting interpretations of pathogenicity rs142095597 GRCh37 Chromosome 17, 39913900: 39913900
18 JUP NM_002230.2(JUP): c.1910G> A (p.Arg637His) single nucleotide variant Conflicting interpretations of pathogenicity rs142095597 GRCh38 Chromosome 17, 41757648: 41757648
19 JUP NM_002230.2(JUP): c.926A> G (p.Asn309Ser) single nucleotide variant Uncertain significance rs140606359 GRCh37 Chromosome 17, 39921303: 39921303
20 JUP NM_002230.2(JUP): c.926A> G (p.Asn309Ser) single nucleotide variant Uncertain significance rs140606359 GRCh38 Chromosome 17, 41765051: 41765051
21 JUP NM_002230.2(JUP): c.633C> T (p.Asn211=) single nucleotide variant Benign/Likely benign rs372145644 GRCh37 Chromosome 17, 39925295: 39925295
22 JUP NM_002230.2(JUP): c.633C> T (p.Asn211=) single nucleotide variant Benign/Likely benign rs372145644 GRCh38 Chromosome 17, 41769043: 41769043
23 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh37 Chromosome 17, 39912129: 39912129
24 JUP NM_002230.2(JUP): c.2105G> A (p.Arg702His) single nucleotide variant Uncertain significance rs200690479 GRCh38 Chromosome 17, 41755877: 41755877
25 JUP NM_002230.2(JUP): c.2086+7G> C single nucleotide variant Likely benign rs727504940 GRCh37 Chromosome 17, 39912420: 39912420
26 JUP NM_002230.2(JUP): c.2086+7G> C single nucleotide variant Likely benign rs727504940 GRCh38 Chromosome 17, 41756168: 41756168
27 JUP NM_002230.2(JUP): c.56C> T (p.Thr19Ile) single nucleotide variant Uncertain significance rs570878629 GRCh37 Chromosome 17, 39928051: 39928051
28 JUP NM_002230.2(JUP): c.56C> T (p.Thr19Ile) single nucleotide variant Uncertain significance rs570878629 GRCh38 Chromosome 17, 41771799: 41771799
29 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh38 Chromosome 17, 41757751: 41757751
30 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh37 Chromosome 17, 39914003: 39914003
31 JUP NM_002230.2(JUP): c.1366G> A (p.Val456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78437817 GRCh37 Chromosome 17, 39919366: 39919366
32 JUP NM_002230.2(JUP): c.1366G> A (p.Val456Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78437817 GRCh38 Chromosome 17, 41763114: 41763114
33 JUP NM_002230.2(JUP): c.1172G> A (p.Ser391Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199826380 GRCh38 Chromosome 17, 41763308: 41763308
34 JUP NM_002230.2(JUP): c.1172G> A (p.Ser391Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs199826380 GRCh37 Chromosome 17, 39919560: 39919560
35 JUP NM_002230.2(JUP): c.526C> T (p.Arg176Trp) single nucleotide variant Uncertain significance rs368336007 GRCh37 Chromosome 17, 39925402: 39925402
36 JUP NM_002230.2(JUP): c.526C> T (p.Arg176Trp) single nucleotide variant Uncertain significance rs368336007 GRCh38 Chromosome 17, 41769150: 41769150
37 JUP NM_002230.2(JUP): c.1876G> A (p.Ala626Thr) single nucleotide variant Uncertain significance rs782547688 GRCh37 Chromosome 17, 39913934: 39913934
38 JUP NM_002230.2(JUP): c.1876G> A (p.Ala626Thr) single nucleotide variant Uncertain significance rs782547688 GRCh38 Chromosome 17, 41757682: 41757682
39 JUP NM_002230.2(JUP): c.1702C> T (p.His568Tyr) single nucleotide variant Uncertain significance rs794729048 GRCh37 Chromosome 17, 39914722: 39914722
40 JUP NM_002230.2(JUP): c.1702C> T (p.His568Tyr) single nucleotide variant Uncertain significance rs794729048 GRCh38 Chromosome 17, 41758470: 41758470
41 JUP NM_002230.2(JUP): c.1130G> A (p.Arg377His) single nucleotide variant Uncertain significance rs794729044 GRCh37 Chromosome 17, 39920993: 39920993
42 JUP NM_002230.2(JUP): c.1130G> A (p.Arg377His) single nucleotide variant Uncertain significance rs794729044 GRCh38 Chromosome 17, 41764741: 41764741
43 JUP NM_002230.2(JUP): c.1099C> G (p.Arg367Gly) single nucleotide variant Uncertain significance rs76416187 GRCh37 Chromosome 17, 39921024: 39921024
44 JUP NM_002230.2(JUP): c.1099C> G (p.Arg367Gly) single nucleotide variant Uncertain significance rs76416187 GRCh38 Chromosome 17, 41764772: 41764772
45 JUP NM_002230.2(JUP): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs199597864 GRCh37 Chromosome 17, 39923648: 39923648
46 JUP NM_002230.2(JUP): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs199597864 GRCh38 Chromosome 17, 41767396: 41767396
47 JUP NM_002230.2(JUP): c.818T> C (p.Met273Thr) single nucleotide variant Uncertain significance rs782091454 GRCh37 Chromosome 17, 39923722: 39923722
48 JUP NM_002230.2(JUP): c.818T> C (p.Met273Thr) single nucleotide variant Uncertain significance rs782091454 GRCh38 Chromosome 17, 41767470: 41767470
49 JUP NM_002230.2(JUP): c.509C> T (p.Ser170Leu) single nucleotide variant Uncertain significance rs782284038 GRCh37 Chromosome 17, 39925419: 39925419
50 JUP NM_002230.2(JUP): c.509C> T (p.Ser170Leu) single nucleotide variant Uncertain significance rs782284038 GRCh38 Chromosome 17, 41769167: 41769167

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

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 9.62 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)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.65 DSC2 JUP PKP2
2 keratinization GO:0031424 9.62 DSC2 DSP JUP PKP2
3 cell-cell adhesion GO:0098609 9.58 DSP JUP PKP2
4 cornification GO:0070268 9.56 DSC2 DSP JUP PKP2
5 protein localization to plasma membrane GO:0072659 9.49 JUP PKP2
6 skin development GO:0043588 9.46 DSP JUP
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:

# Name GO ID Score Top Affiliating Genes
1 binding GO:0005488 9.37 JUP PKP2
2 structural molecule activity GO:0005198 9.32 DSP JUP
3 cell adhesion molecule binding GO:0050839 9.26 DSP JUP
4 protein kinase C binding GO:0005080 9.16 DSP PKP2
5 alpha-catenin binding GO:0045294 8.96 JUP PKP2
6 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....