NXD
MCID: NXS001
MIFTS: 54

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 74 20 58 73 36 29 13 54 6 15 39 71
Mal De Naxos 57 20 73
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 57 73
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 57 73
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 57 73
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 58 73
Nxd 57 73
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 20
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 58
Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy 57
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 20
Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy 58
Keratoderma with Woolly Hair Type I 58
Kwwh Type I 58

Characteristics:

Orphanet epidemiological data:

58
naxos disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
naxos disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Naxos Disease

GARD : 20 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 hypotrichosis 8 and palmoplantar keratoderma and woolly hair. An important gene associated with Naxos Disease is JUP (Junction Plakoglobin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy and Developmental Biology. Affiliated tissues include heart and skin, and related phenotypes are palmoplantar keratoderma and vertigo

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 : 36 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 : 73 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 : 74 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 top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 8 31.4 LPAR6 DSG4
2 palmoplantar keratoderma and woolly hair 30.8 JUP DSP DSC2
3 atrial standstill 1 30.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
4 ventricular fibrillation, paroxysmal familial, 1 30.1 RYR2 DSP
5 cardiac arrest 30.0 RYR2 DSP DSG2
6 keratosis 30.0 GJA1 DSP DSG4 DSG2 DSG1
7 palmoplantar keratosis 29.8 PKP2 PKP1 JUP GJA1 DSP DSG2
8 left bundle branch hemiblock 29.8 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
9 arrhythmogenic right ventricular cardiomyopathy 28.9 TMEM43 TGFB3 RYR2 PKP3 PKP2 JUP
10 dilated cardiomyopathy 28.6 TMEM43 TGFB3 RYR2 PKP2 JUP GJA1
11 cardiomyopathy, dilated, with woolly hair and keratoderma 28.1 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
12 familial woolly hair syndrome 27.9 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
13 palmoplantar keratoderma, nonepidermolytic 27.8 TMEM43 RYR2 PKP3 PKP2 PKP1 JUP
14 woolly hair, autosomal dominant 11.0
15 keratoderma with woolly hair 11.0
16 grover's disease 10.3 JUP DSP
17 epidermolysis bullosa, lethal acantholytic 10.3 JUP DSP
18 syncope 10.3
19 left ventricular noncompaction 1 10.3 PKP2 JUP
20 cardiac conduction defect 10.3
21 anomalous left coronary artery from the pulmonary artery 10.2 PKP2 GJA1
22 pemphigus vegetans 10.2 DSG1 DSC3
23 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.2 DSP DSG1
24 striate palmoplantar keratoderma 10.2 DSP DSG1
25 cardiomyopathy, dilated, 1h 10.2 TMEM43 DSP DSC2
26 cardiomyopathy, dilated, 1a 10.2 TMEM43 DSP DSC2
27 congestive heart failure 10.2
28 dystonia 3, torsion, x-linked 10.2 DSC3 DSC2
29 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 RYR2 PKP2 DSP
30 diffuse palmoplantar keratoderma 10.1 JUP DSP DSG1
31 lmna-related dilated cardiomyopathy 10.1 DSP DSC2
32 familial isolated arrhythmogenic right ventricular dysplasia 10.1 TMEM43 PKP2 DSP DSC2
33 ectodermal dysplasia/skin fragility syndrome 10.1 PKP1 JUP DSP DSC2
34 progressive familial heart block, type ia 10.1
35 acute myocarditis 10.1
36 myocarditis 10.1
37 erythrokeratoderma ''en cocardes'' 10.1
38 acute diffuse nephritis 10.1 TGFB3 DSG1
39 hypotrichosis 13 10.1 LPAR6 DSG4
40 hypotrichosis 7 10.1 LPAR6 DSG4
41 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.0 LPAR6 DSG4
42 cardiac arrhythmia 10.0 RYR2 PKP2 JUP DSP
43 hypotrichosis 11 10.0 LPAR6 DSG4
44 pemphigus erythematosus 10.0 DSP DSG3
45 hypotrichosis 6 10.0 LPAR6 DSG4
46 long qt syndrome 1 10.0 RYR2 PKP2 DSP DSG2
47 familial atrial fibrillation 9.9 RYR2 PKP2 GJA1 DSG2
48 palmoplantar keratoderma, epidermolytic 9.9 PKP1 DSP DSG4 DSG1
49 sinoatrial node disease 9.9 RYR2 GJA1
50 cyanosis, transient neonatal 9.9

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:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 very rare (1%) Very frequent (99-80%) HP:0000982
2 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
3 woolly hair 58 31 very rare (1%) Very frequent (99-80%) HP:0002224
4 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
5 paroxysmal ventricular tachycardia 31 hallmark (90%) HP:0004751
6 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
7 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
8 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
9 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
10 curly hair 58 31 frequent (33%) Frequent (79-30%) HP:0002212
11 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
12 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
13 syncope 31 very rare (1%) HP:0001279
14 ventricular extrasystoles 31 very rare (1%) HP:0006682
15 palpitations 31 very rare (1%) HP:0001962
16 t-wave inversion 31 very rare (1%) HP:0010872
17 prolonged qrs complex 31 very rare (1%) HP:0006677
18 abnormal morphology of right ventricular trabeculae 31 very rare (1%) HP:0031193
19 cardiomegaly 31 HP:0001640
20 dilated cardiomyopathy 31 HP:0001644
21 arrhythmia 58 Very frequent (99-80%)
22 sparse body hair 31 HP:0002231
23 right bundle branch block 31 HP:0011712
24 nail dystrophy 31 HP:0008404
25 acantholysis 31 HP:0100792
26 onycholysis 31 HP:0001806
27 abnormality of hair texture 58 Very frequent (99-80%)
28 fragile skin 31 HP:0001030
29 episodes of ventricular tachycardia 58 Very frequent (99-80%)
30 epidermal acanthosis 31 HP:0025092
31 sudden death 31 HP:0001699
32 right ventricular cardiomyopathy 31 HP:0011663
33 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy
episodes of ventricular tachycardia
sudden death
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:
woolly hair
curly 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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Naxos Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 DSC1 DSC3 DSG2 DSG3 DSP GJA1
2 cardiovascular system MP:0005385 10.1 CTNNA3 DSC2 DSG2 DSP GJA1 JUP
3 immune system MP:0005387 10.02 DSC1 DSG2 DSG3 DSG4 DSP GJA1
4 integument MP:0010771 10 DSC1 DSC3 DSG1 DSG2 DSG3 DSG4
5 mortality/aging MP:0010768 9.97 CTNNA3 DSC3 DSG2 DSG3 DSG4 DSP
6 muscle MP:0005369 9.5 CTNNA3 DSG2 DSP GJA1 JUP PKP2
7 vision/eye MP:0005391 9.28 DSC1 DSC2 DSC3 DSG1 DSG2 DSG3

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:

40
Heart, Skin

Publications for Naxos Disease

Articles related to Naxos Disease:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). 61 6 57 54
10902626 2000
2
Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. 61 6 57
19067702 2009
3
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. 6 57
21668431 2011
4
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. 57 6
21320868 2011
5
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. 57 6
20130592 2010
6
Evidence for extensive locus heterogeneity in Naxos disease. 57 61
11874502 2002
7
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. 57
24671081 2014
8
When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy. 57
24460197 2014
9
Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. 57
11443548 2001
10
Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. 57
8166494 1994
11
Cardiomyopathy with arrhythmias and ectodermal dysplasia: a previously unreported association. 57
3341172 1988
12
Cardiac abnormalities in familial palmoplantar keratosis. 57
2945574 1986
13
Skin and heart: une liaison dangereuse. 61 54
19558499 2009
14
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. 54 61
17924338 2007
15
Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment. 54 61
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. 54 61
16893920 2006
17
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. 61 54
16722579 2006
18
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? 61 54
16414451 2006
19
Etiopathogenesis of arrhythmogenic right ventricular cardiomyopathy. 54 61
16096717 2005
20
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. 54 61
15210133 2004
21
Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). 61 54
15851108 2004
22
Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). 54 61
11984022 2002
23
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 61 54
11691526 2001
24
Desmosomes: structure and function in normal and diseased epidermis. 54 61
11476106 2001
25
Naxos disease patient with sustained ventricular tachycardia and multifocal thrombi in the right ventricle: Concerns on therapeutic management. 61
33450353 2021
26
Naxos disease - a narrative review. 61
32966140 2020
27
Naxos Disease: The Model for Scientific Discovery. 61
33531750 2020
28
Naxos disease: from the origin to today. 61
29747658 2018
29
Novel founder mutation in French-Canadian families with Naxos disease. 61
28098346 2017
30
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. 61
27747171 2016
31
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 61
28329610 2016
32
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 61
25824144 2015
33
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. 61
25430408 2015
34
A fishing trip to cure arrhythmogenic cardiomyopathy? 61
26015932 2015
35
Normalization of Naxos plakoglobin levels restores cardiac function in mice. 61
25705887 2015
36
Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challenges. 61
25548613 2014
37
HeartWare LVAD implantation in a patient with a rare ARVD: Carvajal syndrome. 61
25044388 2014
38
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. 61
24187773 2013
39
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. 61
23336952 2013
40
Naxos disease and Carvajal variant. 61
23942402 2013
41
Naxos disease: an unusual cause of cardiomyopathy. 61
23703567 2013
42
Anaesthesia in Naxos disease: first case report. 61
23448613 2013
43
How do keratinizing disorders and blistering disorders overlap? 61
23039137 2013
44
Living after sudden death: A case report of Naxos disease. 61
23559728 2012
45
Lack of plakoglobin in epidermis leads to keratoderma. 61
22315228 2012
46
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. 61
21640403 2012
47
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. 61
22572432 2012
48
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. 61
21789513 2011
49
Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. 61
21880664 2011
50
Naxos disease in two siblings. 61
21188028 2010

Variations for Naxos Disease

ClinVar genetic disease variations for Naxos Disease:

6 (show top 50) (show all 396)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JUP NM_002230.4(JUP):c.468G>A (p.Pro156=) SNV Pathogenic 212749 rs886037753 17:39925670-39925670 17:41769418-41769418
2 JUP NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) SNV Pathogenic 212750 rs797046139 17:39915005-39915005 17:41758753-41758753
3 JUP NM_002230.4(JUP):c.71C>A (p.Ser24Ter) SNV Pathogenic 212748 rs782460555 17:39928036-39928036 17:41771784-41771784
4 JUP NM_002230.4(JUP):c.794G>A (p.Arg265His) SNV Pathogenic 212751 rs782440692 17:39923746-39923746 17:41767494-41767494
5 JUP NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) Deletion Pathogenic 13599 rs113994177 17:39913674-39913675 17:41757422-41757423
6 JUP NM_002230.4(JUP):c.188del (p.Gln63fs) Deletion Pathogenic 464030 rs1555606936 17:39927919-39927919 17:41771667-41771667
7 JUP NM_002230.4(JUP):c.1807del (p.Val603fs) Deletion Pathogenic 641938 rs1597782553 17:39914003-39914003 17:41757751-41757751
8 JUP NM_002230.4(JUP):c.1455_1462del (p.Val486fs) Deletion Pathogenic 659497 rs1597801392 17:39919270-39919277 17:41763018-41763025
9 JUP NM_002230.4(JUP):c.545C>A (p.Ser182Ter) SNV Pathogenic 857898 17:39925383-39925383 17:41769131-41769131
10 JUP NC_000017.11:g.(?_41771637)_(41771864_?)del Deletion Pathogenic 831627 17:39927889-39928116
11 JUP NM_002230.4(JUP):c.208+1G>A SNV Likely pathogenic 663513 rs373761090 17:39927898-39927898 17:41771646-41771646
12 JUP NM_002230.4(JUP):c.1924+1G>A SNV Likely pathogenic 641014 rs1597781765 17:39913885-39913885 17:41757633-41757633
13 JUP NM_002230.4(JUP):c.902A>G (p.Glu301Gly) SNV Likely pathogenic 222662 rs782058451 17:39923638-39923638 17:41767386-41767386
14 JUP NM_002230.4(JUP):c.608G>A (p.Arg203His) SNV Uncertain significance 645672 rs200221163 17:39925320-39925320 17:41769068-41769068
15 JUP NM_002230.4(JUP):c.1850C>T (p.Ala617Val) SNV Uncertain significance 646605 rs782465804 17:39913960-39913960 17:41757708-41757708
16 JUP NM_002230.4(JUP):c.200C>T (p.Pro67Leu) SNV Uncertain significance 647106 rs1427489722 17:39927907-39927907 17:41771655-41771655
17 JUP NM_002230.4(JUP):c.1318C>T (p.His440Tyr) SNV Uncertain significance 647192 rs1555602228 17:39919414-39919414 17:41763162-41763162
18 JUP NM_002230.4(JUP):c.1430G>A (p.Arg477His) SNV Uncertain significance 647686 rs781788038 17:39919302-39919302 17:41763050-41763050
19 JUP NM_002230.4(JUP):c.1996G>T (p.Val666Leu) SNV Uncertain significance 648451 rs372369061 17:39913717-39913717 17:41757465-41757465
20 JUP NM_002230.4(JUP):c.868G>A (p.Asp290Asn) SNV Uncertain significance 649199 rs982161216 17:39923672-39923672 17:41767420-41767420
21 JUP NM_002230.4(JUP):c.926A>T (p.Asn309Ile) SNV Uncertain significance 649802 rs140606359 17:39921303-39921303 17:41765051-41765051
22 JUP NM_002230.4(JUP):c.1158+2_1158+4dup Duplication Uncertain significance 651441 rs782280458 17:39920960-39920961 17:41764708-41764709
23 JUP NM_002230.4(JUP):c.928G>A (p.Gly310Ser) SNV Uncertain significance 652325 rs1597808505 17:39921301-39921301 17:41765049-41765049
24 JUP NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) SNV Uncertain significance 234601 rs782301706 17:39921190-39921190 17:41764938-41764938
25 JUP NM_002230.4(JUP):c.293G>A (p.Ser98Asn) SNV Uncertain significance 655299 rs1555605891 17:39925845-39925845 17:41769593-41769593
26 JUP NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) SNV Uncertain significance 656122 rs199511559 17:39914006-39914006 17:41757754-41757754
27 JUP NM_002230.4(JUP):c.989C>A (p.Thr330Asn) SNV Uncertain significance 201820 rs782145797 17:39921240-39921240 17:41764988-41764988
28 JUP NM_002230.4(JUP):c.652G>C (p.Gly218Arg) SNV Uncertain significance 643312 rs1597823588 17:39925276-39925276 17:41769024-41769024
29 JUP NM_002230.4(JUP):c.455A>G (p.Asn152Ser) SNV Uncertain significance 644232 rs1555605656 17:39925683-39925683 17:41769431-41769431
30 JUP NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) SNV Uncertain significance 191670 rs752594411 17:39913948-39913948 17:41757696-41757696
31 JUP NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) SNV Uncertain significance 201823 rs794729045 17:39919378-39919378 17:41763126-41763126
32 JUP NM_002230.4(JUP):c.403G>C (p.Asp135His) SNV Uncertain significance 640516 rs1555605721 17:39925735-39925735 17:41769483-41769483
33 JUP NM_002230.4(JUP):c.682A>G (p.Ile228Val) SNV Uncertain significance 663602 rs374566089 17:39925246-39925246 17:41768994-41768994
34 JUP NM_002230.4(JUP):c.997C>T (p.Arg333Cys) SNV Uncertain significance 663767 rs782031185 17:39921232-39921232 17:41764980-41764980
35 JUP NM_002230.4(JUP):c.148G>A (p.Gly50Arg) SNV Uncertain significance 664417 rs374008304 17:39927959-39927959 17:41771707-41771707
36 JUP NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) Deletion Uncertain significance 323162 rs782439900 17:39912062-39912067 17:41755810-41755815
37 JUP NM_002230.4(JUP):c.193G>A (p.Val65Met) SNV Uncertain significance 660124 rs727503100 17:39927914-39927914 17:41771662-41771662
38 JUP NM_002230.4(JUP):c.136G>A (p.Asp46Asn) SNV Uncertain significance 660738 rs782308879 17:39927971-39927971 17:41771719-41771719
39 JUP NM_002230.4(JUP):c.1355C>T (p.Thr452Met) SNV Uncertain significance 201824 rs781888888 17:39919377-39919377 17:41763125-41763125
40 JUP NM_002230.4(JUP):c.436G>A (p.Glu146Lys) SNV Uncertain significance 661772 rs146581757 17:39925702-39925702 17:41769450-41769450
41 JUP NM_002230.4(JUP):c.1990G>A (p.Val664Met) SNV Uncertain significance 662884 rs782695128 17:39913723-39913723 17:41757471-41757471
42 JUP NM_002230.4(JUP):c.152G>A (p.Arg51His) SNV Uncertain significance 834312 17:39927955-39927955 17:41771703-41771703
43 JUP NM_002230.4(JUP):c.467C>T (p.Pro156Leu) SNV Uncertain significance 263731 rs782052422 17:39925671-39925671 17:41769419-41769419
44 JUP NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del) Deletion Uncertain significance 835563 17:39928101-39928106 17:41771849-41771854
45 JUP NM_002230.4(JUP):c.833A>G (p.Asn278Ser) SNV Uncertain significance 836012 17:39923707-39923707 17:41767455-41767455
46 JUP NM_002230.4(JUP):c.1394G>A (p.Arg465His) SNV Uncertain significance 836379 17:39919338-39919338 17:41763086-41763086
47 JUP NM_002230.4(JUP):c.109G>A (p.Val37Ile) SNV Uncertain significance 836987 17:39927998-39927998 17:41771746-41771746
48 JUP NM_002230.4(JUP):c.1805G>A (p.Arg602His) SNV Uncertain significance 837260 17:39914005-39914005 17:41757753-41757753
49 JUP NM_002230.4(JUP):c.874C>G (p.Leu292Val) SNV Uncertain significance 837677 17:39923666-39923666 17:41767414-41767414
50 JUP NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) SNV Uncertain significance 837932 17:39912040-39912040 17:41755788-41755788

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:

36
# Name Kegg Source Accession
1 Arrhythmogenic right ventricular cardiomyopathy hsa05412

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 PKP3 PKP2 PKP1 JUP DSP DSG4
2
Show member pathways
11.86 PKP3 PKP2 PKP1 JUP DSP DSG4
3
Show member pathways
11.78 PKP1 DSP DSG3 DSG2 DSG1
4 11.74 RYR2 PKP2 JUP GJA1 DSP DSG2
5 11.7 JUP GJA1 DSP
6
Show member pathways
11.61 PKP2 PKP1 DSP
7 11.42 RYR2 JUP GJA1 DSP
8 11.06 JUP GJA1 DSP CTNNA3

GO Terms for Naxos Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.31 TGFB3 RYR2 PKP3 PKP2 PKP1 LPAR6
2 integral component of membrane GO:0016021 10.3 TMEM43 RYR2 PKP2 LPAR6 GJA1 DSG4
3 cell junction GO:0030054 10.07 PKP3 PKP2 PKP1 JUP GJA1 DSP
4 adherens junction GO:0005912 9.91 PKP3 PKP2 PKP1 JUP DSC2 CTNNA3
5 cell-cell junction GO:0005911 9.9 PKP3 PKP2 JUP DSP DSG4 DSG3
6 intermediate filament GO:0005882 9.8 PKP2 PKP1 JUP DSP
7 intercalated disc GO:0014704 9.8 PKP2 JUP GJA1 DSP DSG2 DSC2
8 ficolin-1-rich granule membrane GO:0101003 9.78 PKP1 DSP DSG1 DSC1
9 desmosome GO:0030057 9.73 PKP3 PKP2 PKP1 JUP DSP DSG4
10 lateral plasma membrane GO:0016328 9.69 JUP DSG2 DSG1
11 fascia adherens GO:0005916 9.67 JUP GJA1 DSP CTNNA3
12 messenger ribonucleoprotein complex GO:1990124 9.63 PKP3 PKP2 PKP1
13 cornified envelope GO:0001533 9.4 PKP3 PKP2 PKP1 JUP DSP DSG4

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.15 PKP3 PKP2 PKP1 JUP DSG4 DSG3
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.98 DSG4 DSG3 DSG2 DSG1 DSC3 DSC2
3 neutrophil degranulation GO:0043312 9.96 PKP1 JUP DSP DSG1 DSC1
4 cornification GO:0070268 9.93 PKP3 PKP2 PKP1 JUP DSP DSG4
5 regulation of heart rate by cardiac conduction GO:0086091 9.88 PKP2 JUP DSP DSG2 DSC2 CTNNA3
6 cell-cell junction assembly GO:0007043 9.8 PKP3 PKP2 PKP1 DSG1
7 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.8 PKP2 JUP DSP DSG2 DSC2 CTNNA3
8 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.8 RYR2 PKP2 JUP DSP DSG2 DSC2
9 protein localization to plasma membrane GO:0072659 9.77 PKP3 PKP2 JUP
10 keratinization GO:0031424 9.73 PKP3 PKP2 PKP1 JUP DSP DSG4
11 response to progesterone GO:0032570 9.71 TGFB3 DSG2 DSG1
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 RYR2 PKP2 GJA1
13 desmosome organization GO:0002934 9.65 PKP2 DSP DSG2
14 desmosome assembly GO:0002159 9.63 PKP3 PKP2 JUP
15 maternal process involved in female pregnancy GO:0060135 9.58 DSG2 DSG1
16 ventricular cardiac muscle cell action potential GO:0086005 9.58 RYR2 PKP2
17 epithelial cell-cell adhesion GO:0090136 9.57 DSP CTNNA3
18 intermediate filament bundle assembly GO:0045110 9.55 PKP2 PKP1
19 negative regulation of mRNA catabolic process GO:1902373 9.52 PKP3 PKP1
20 cell-cell adhesion GO:0098609 9.44 PKP3 PKP2 PKP1 JUP DSP DSG4

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.72 PKP3 PKP2 PKP1 JUP CTNNA3
2 cell adhesion molecule binding GO:0050839 9.56 PKP3 JUP DSP DSG2
3 calcium ion binding GO:0005509 9.56 RYR2 DSG4 DSG3 DSG2 DSG1 DSC3
4 gamma-catenin binding GO:0045295 9.4 DSG1 DSC3
5 intermediate filament binding GO:0019215 9.37 PKP2 PKP1
6 alpha-catenin binding GO:0045294 9.33 PKP3 PKP2 JUP
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

Sources for Naxos Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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