NXD
MCID: NXS001
MIFTS: 47

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 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 hyperhidrosis and sudden cardiac death

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 33)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, with woolly hair and keratoderma 31.3 DSC2 DSP JUP PKP2
2 palmoplantar keratosis 30.0 DSP JUP
3 arrhythmogenic right ventricular cardiomyopathy 29.9 DSC2 DSP JUP PKP2
4 palmoplantar keratoderma and woolly hair 29.8 DSC2 DSP JUP
5 woolly hair syndrome 11.5
6 woolly hair, autosomal dominant 11.0
7 hypotrichosis 8 11.0
8 palmoplantar keratoderma, nonepidermolytic 10.0
9 acute myocarditis 10.0
10 myocarditis 10.0
11 unna-thost palmoplantar keratoderma 10.0
12 left bundle branch hemiblock 9.9 JUP PKP2
13 grover's disease 9.9 DSP JUP
14 epidermolysis bullosa, lethal acantholytic 9.9 DSP JUP
15 arrhythmogenic right ventricular dysplasia, familial, 1 9.9 DSP JUP
16 benign chronic pemphigus 9.9 DSP JUP
17 pemphigus 9.9 DSP JUP
18 darier-white disease 9.9 DSP JUP
19 bullous skin disease 9.8 DSC2 DSP
20 paraneoplastic pemphigus 9.8 DSC2 DSP
21 pemphigus vulgaris 9.8 DSP JUP
22 brugada syndrome 9.8 JUP PKP2
23 ectodermal dysplasia/skin fragility syndrome 9.7 DSC2 DSP JUP
24 long qt syndrome 1 9.7 DSP PKP2
25 arrhythmogenic right ventricular dysplasia, familial, 9 9.7 DSP JUP PKP2
26 arrhythmogenic right ventricular dysplasia, familial, 8 9.7 DSP JUP PKP2
27 left ventricular noncompaction 9.7 DSP JUP PKP2
28 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.5 DSC2 DSP JUP PKP2
29 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.5 DSC2 DSP JUP PKP2
30 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.5 DSC2 DSP JUP PKP2
31 intrinsic cardiomyopathy 9.5 DSC2 DSP JUP PKP2
32 atrial standstill 1 9.5 DSC2 DSP JUP PKP2
33 dilated cardiomyopathy 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 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

Human phenotypes related to Naxos Disease:

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

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 368)
# 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.2089A> T (p.Met697Leu) single nucleotide variant Benign/Likely benign rs1126821 GRCh37 Chromosome 17, 39912145: 39912145
4 JUP NM_002230.2(JUP): c.2089A> T (p.Met697Leu) single nucleotide variant Benign/Likely benign rs1126821 GRCh38 Chromosome 17, 41755893: 41755893
5 JUP NM_002230.2(JUP): c.1774-13C> T single nucleotide variant Benign/Likely benign rs116772523 GRCh37 Chromosome 17, 39914049: 39914049
6 JUP NM_002230.2(JUP): c.1774-13C> T single nucleotide variant Benign/Likely benign rs116772523 GRCh38 Chromosome 17, 41757797: 41757797
7 JUP NM_002230.2(JUP): c.867C> T (p.Thr289=) single nucleotide variant Benign/Likely benign rs2230407 GRCh37 Chromosome 17, 39923673: 39923673
8 JUP NM_002230.2(JUP): c.867C> T (p.Thr289=) single nucleotide variant Benign/Likely benign rs2230407 GRCh38 Chromosome 17, 41767421: 41767421
9 JUP NM_002230.2(JUP): c.909+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922705 GRCh37 Chromosome 17, 39923625: 39923625
10 JUP NM_002230.2(JUP): c.909+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922705 GRCh38 Chromosome 17, 41767373: 41767373
11 JUP NM_002230.2(JUP): c.1224C> T (p.Leu408=) single nucleotide variant Benign/Likely benign rs2230408 GRCh37 Chromosome 17, 39919508: 39919508
12 JUP NM_002230.2(JUP): c.1224C> T (p.Leu408=) single nucleotide variant Benign/Likely benign rs2230408 GRCh38 Chromosome 17, 41763256: 41763256
13 JUP NM_002230.2(JUP): c.1331G> A (p.Arg444His) single nucleotide variant Uncertain significance rs369507567 GRCh37 Chromosome 17, 39919401: 39919401
14 JUP NM_002230.2(JUP): c.1331G> A (p.Arg444His) single nucleotide variant Uncertain significance rs369507567 GRCh38 Chromosome 17, 41763149: 41763149
15 JUP NM_002230.2(JUP): c.1377G> T (p.Leu459=) single nucleotide variant Conflicting interpretations of pathogenicity rs147370522 GRCh37 Chromosome 17, 39919355: 39919355
16 JUP NM_002230.2(JUP): c.1377G> T (p.Leu459=) single nucleotide variant Conflicting interpretations of pathogenicity rs147370522 GRCh38 Chromosome 17, 41763103: 41763103
17 JUP NM_002230.2(JUP): c.1379G> A (p.Arg460His) single nucleotide variant Uncertain significance rs397517296 GRCh37 Chromosome 17, 39919353: 39919353
18 JUP NM_002230.2(JUP): c.1379G> A (p.Arg460His) single nucleotide variant Uncertain significance rs397517296 GRCh38 Chromosome 17, 41763101: 41763101
19 JUP NM_002230.2(JUP): c.1563A> G (p.Ala521=) single nucleotide variant Benign/Likely benign rs149926974 GRCh37 Chromosome 17, 39915057: 39915057
20 JUP NM_002230.2(JUP): c.1563A> G (p.Ala521=) single nucleotide variant Benign/Likely benign rs149926974 GRCh38 Chromosome 17, 41758805: 41758805
21 JUP NM_021991.2(JUP): c.1653+10C> A single nucleotide variant Benign/Likely benign rs73983658 GRCh37 Chromosome 17, 39914957: 39914957
22 JUP NM_021991.2(JUP): c.1653+10C> A single nucleotide variant Benign/Likely benign rs73983658 GRCh38 Chromosome 17, 41758705: 41758705
23 JUP NM_002230.2(JUP): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs143043662 GRCh37 Chromosome 17, 39913771: 39913771
24 JUP NM_002230.2(JUP): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs143043662 GRCh38 Chromosome 17, 41757519: 41757519
25 JUP NM_002230.2(JUP): c.2047-14C> G single nucleotide variant Benign/Likely benign rs116666639 GRCh37 Chromosome 17, 39912480: 39912480
26 JUP NM_002230.2(JUP): c.2047-14C> G single nucleotide variant Benign/Likely benign rs116666639 GRCh38 Chromosome 17, 41756228: 41756228
27 JUP NM_002230.2(JUP): c.2059A> G (p.Ile687Val) single nucleotide variant Benign/Likely benign rs138366708 GRCh37 Chromosome 17, 39912454: 39912454
28 JUP NM_002230.2(JUP): c.2059A> G (p.Ile687Val) single nucleotide variant Benign/Likely benign rs138366708 GRCh38 Chromosome 17, 41756202: 41756202
29 JUP NM_002230.2(JUP): c.213T> C (p.Asp71=) single nucleotide variant Benign/Likely benign rs7405731 GRCh37 Chromosome 17, 39925925: 39925925
30 JUP NM_002230.2(JUP): c.213T> C (p.Asp71=) single nucleotide variant Benign/Likely benign rs7405731 GRCh38 Chromosome 17, 41769673: 41769673
31 JUP NM_002230.2(JUP): c.2178C> T (p.Ile726=) single nucleotide variant Benign/Likely benign rs141295561 GRCh37 Chromosome 17, 39912056: 39912056
32 JUP NM_002230.2(JUP): c.2178C> T (p.Ile726=) single nucleotide variant Benign/Likely benign rs141295561 GRCh38 Chromosome 17, 41755804: 41755804
33 JUP NM_002230.2(JUP): c.2207C> T (p.Pro736Leu) single nucleotide variant Uncertain significance rs151178348 GRCh37 Chromosome 17, 39912027: 39912027
34 JUP NM_002230.2(JUP): c.2207C> T (p.Pro736Leu) single nucleotide variant Uncertain significance rs151178348 GRCh38 Chromosome 17, 41755775: 41755775
35 JUP NM_002230.2(JUP): c.297G> A (p.Ser99=) single nucleotide variant Benign/Likely benign rs200976464 GRCh37 Chromosome 17, 39925841: 39925841
36 JUP NM_002230.2(JUP): c.297G> A (p.Ser99=) single nucleotide variant Benign/Likely benign rs200976464 GRCh38 Chromosome 17, 41769589: 41769589
37 JUP NM_002230.2(JUP): c.405C> T (p.Asp135=) single nucleotide variant Benign/Likely benign rs17850807 GRCh37 Chromosome 17, 39925733: 39925733
38 JUP NM_002230.2(JUP): c.405C> T (p.Asp135=) single nucleotide variant Benign/Likely benign rs17850807 GRCh38 Chromosome 17, 41769481: 41769481
39 JUP NM_002230.2(JUP): c.425G> A (p.Arg142His) single nucleotide variant Benign/Likely benign rs41283425 GRCh37 Chromosome 17, 39925713: 39925713
40 JUP NM_002230.2(JUP): c.425G> A (p.Arg142His) single nucleotide variant Benign/Likely benign rs41283425 GRCh38 Chromosome 17, 41769461: 41769461
41 JUP NM_002230.2(JUP): c.486G> A (p.Ala162=) single nucleotide variant Benign/Likely benign rs113317262 GRCh37 Chromosome 17, 39925442: 39925442
42 JUP NM_002230.2(JUP): c.486G> A (p.Ala162=) single nucleotide variant Benign/Likely benign rs113317262 GRCh38 Chromosome 17, 41769190: 41769190
43 JUP NM_002230.2(JUP): c.567C> T (p.Val189=) single nucleotide variant Benign/Likely benign rs35297577 GRCh37 Chromosome 17, 39925361: 39925361
44 JUP NM_002230.2(JUP): c.567C> T (p.Val189=) single nucleotide variant Benign/Likely benign rs35297577 GRCh38 Chromosome 17, 41769109: 41769109
45 JUP NM_002230.2(JUP): c.708-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201313464 GRCh37 Chromosome 17, 39923836: 39923836
46 JUP NM_002230.2(JUP): c.708-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201313464 GRCh38 Chromosome 17, 41767584: 41767584
47 JUP NM_002230.2(JUP): c.777C> T (p.Gly259=) single nucleotide variant Benign rs34890640 GRCh37 Chromosome 17, 39923763: 39923763
48 JUP NM_002230.2(JUP): c.777C> T (p.Gly259=) single nucleotide variant Benign rs34890640 GRCh38 Chromosome 17, 41767511: 41767511
49 JUP NM_002230.2(JUP): c.1281G> A (p.Thr427=) single nucleotide variant Benign/Likely benign rs373544304 GRCh37 Chromosome 17, 39919451: 39919451
50 JUP NM_002230.2(JUP): c.1281G> A (p.Thr427=) single nucleotide variant Benign/Likely benign rs373544304 GRCh38 Chromosome 17, 41763199: 41763199

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 9.67 DSC2 DSP JUP PKP2
2 intermediate filament GO:0005882 9.61 DSP JUP PKP2
3 cell-cell junction GO:0005911 9.58 DSP JUP PKP2
4 adherens junction GO:0005912 9.46 JUP PKP2
5 cornified envelope GO:0001533 9.46 DSC2 DSP JUP PKP2
6 cell-cell adherens junction GO:0005913 9.43 DSC2 JUP PKP2
7 fascia adherens GO:0005916 9.32 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 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
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....