NXD
MCID: NXS001
MIFTS: 53

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 56 12 74 52 58 73 36 29 13 54 6 15 39 71
Mal De Naxos 56 52 73
Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair 56 73
Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities 56 73
Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities 56 73
Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy 58 73
Nxd 56 73
Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair 52
Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy 58
Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy 56
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities 52
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:

56
Inheritance:
autosomal recessive


HPO:

31
naxos disease:
Clinical modifier sudden death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Naxos Disease

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34217 Definition A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype , characterised by peculiar woolly hair and palmoplantar keratoderma. Epidemiology Naxos 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 description Woolly 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. Etiology Mutations 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 counseling The disease is transmitted autosomal recessively. Management and treatment Implantation 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 (ARVC) and Developmental Biology. Affiliated tissues include skin and heart, 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 104)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 8 31.7 LPAR6 DSG4
2 palmoplantar keratoderma and woolly hair 31.1 JUP DSP DSC2
3 cardiac conduction defect 30.7 RYR2 DSP
4 keratosis 30.3 GJA1 DSP DSG4 DSG2
5 atrial standstill 1 30.3 RYR2 PKP2 JUP DSP DSG2 DSC2
6 ventricular fibrillation, paroxysmal familial, 1 30.2 RYR2 DSP
7 left bundle branch hemiblock 29.7 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
8 cardiac arrest 29.7 TMEM43 RYR2 DSP DSG2 DSC2
9 cardiomyopathy, dilated, with woolly hair and keratoderma 29.2 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
10 arrhythmogenic right ventricular cardiomyopathy 28.2 TMEM43 TGFB3 RYR2 PKP3 PKP2 JUP
11 dilated cardiomyopathy 28.0 TMEM43 TGFB3 RYR2 PKP2 JUP GJA1
12 palmoplantar keratosis 27.1 TMEM43 PKP3 PKP2 PKP1 JUP GJA1
13 familial woolly hair syndrome 27.1 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
14 palmoplantar keratoderma, nonepidermolytic 26.1 TMEM43 TGFB3 RYR2 PKP3 PKP2 PKP1
15 woolly hair, autosomal dominant 11.2
16 keratoderma with woolly hair 11.2
17 grover's disease 10.5 JUP DSP
18 epidermolysis bullosa, lethal acantholytic 10.4 JUP DSP
19 syncope 10.4
20 anomalous left coronary artery from the pulmonary artery 10.3 PKP2 GJA1
21 pemphigus vegetans 10.3 DSG1 DSC3
22 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.3 DSP DSG1
23 striate palmoplantar keratoderma 10.3 DSP DSG1
24 congestive heart failure 10.3
25 diffuse palmoplantar keratoderma 10.2 JUP DSP DSG1
26 right bundle branch block 10.2 PKP2 DSG4 DSG2
27 cardiac sarcoidosis 10.2 PKP2 DSP
28 dystonia 3, torsion, x-linked 10.2 DSC3 DSC2
29 progressive familial heart block, type ia 10.2
30 acute myocarditis 10.2
31 myocarditis 10.2
32 erythrokeratoderma ''en cocardes'' 10.2
33 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.2 RYR2 PKP2 DSP
34 pachyonychia congenita 1 10.1 PKP1 DSP DSG1
35 ectodermal dysplasia/skin fragility syndrome 10.1 PKP1 JUP DSP DSC2
36 acute diffuse nephritis 10.1 TGFB3 DSG1
37 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.1 LPAR6 DSG4
38 hypotrichosis 6 10.1 LPAR6 DSG4
39 heart conduction disease 10.1 RYR2 PKP2 GJA1
40 hypotrichosis 13 10.0 LPAR6 DSG4
41 hypotrichosis 7 10.0 LPAR6 DSG4
42 cyanosis, transient neonatal 10.0
43 middle lobe syndrome 10.0
44 unna-thost palmoplantar keratoderma 10.0
45 rare genetic skin disease 10.0
46 hypotrichosis simplex 10.0 LPAR6 DSG4
47 pemphigus erythematosus 10.0 DSP DSG3
48 long qt syndrome 1 10.0 RYR2 PKP2 DSP
49 rare cardiomyopathy 10.0 RYR2 PKP2 DSP DSG2
50 pseudomembranous conjunctivitis 10.0 DSP DSG3

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 32)
# 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 arrhythmia 58 Very frequent (99-80%)
21 dilated cardiomyopathy 31 HP:0001644
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 episodes of ventricular tachycardia 58 Very frequent (99-80%)
29 fragile skin 31 HP:0001030
30 epidermal acanthosis 31 HP:0025092
31 right ventricular cardiomyopathy 31 HP:0011663
32 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Naxos Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 CTNNA3 DSC2 DSG2 DSP GJA1 JUP
2 cellular MP:0005384 10.06 DSC1 DSC3 DSG2 DSG3 DSP GJA1
3 growth/size/body region MP:0005378 10 DSC1 DSG1 DSG3 DSG4 DSP GJA1
4 integument MP:0010771 9.9 DSC1 DSC3 DSG1 DSG2 DSG3 DSG4
5 mortality/aging MP:0010768 9.77 CTNNA3 DSC3 DSG2 DSG3 DSG4 DSP
6 muscle MP:0005369 9.17 CTNNA3 DSG2 DSP GJA1 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:

40
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). 61 56 6 54
10902626 2000
2
Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. 61 6 56
19067702 2009
3
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. 6 56
21668431 2011
4
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. 6 56
21320868 2011
5
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. 56 6
20130592 2010
6
Evidence for extensive locus heterogeneity in Naxos disease. 61 56
11874502 2002
7
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. 56
24671081 2014
8
When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy. 56
24460197 2014
9
Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. 56
11443548 2001
10
Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. 56
8166494 1994
11
Cardiomyopathy with arrhythmias and ectodermal dysplasia: a previously unreported association. 56
3341172 1988
12
Cardiac abnormalities in familial palmoplantar keratosis. 56
2945574 1986
13
Skin and heart: une liaison dangereuse. 54 61
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. 61 54
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. 54 61
16722579 2006
18
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? 54 61
16414451 2006
19
Etiopathogenesis of arrhythmogenic right ventricular cardiomyopathy. 61 54
16096717 2005
20
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. 61 54
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). 61 54
11984022 2002
23
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 54 61
11691526 2001
24
Desmosomes: structure and function in normal and diseased epidermis. 54 61
11476106 2001
25
Naxos disease: from the origin to today. 61
29747658 2018
26
Novel founder mutation in French-Canadian families with Naxos disease. 61
28098346 2017
27
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. 61
27747171 2016
28
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 61
28329610 2016
29
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 61
25824144 2015
30
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. 61
25430408 2015
31
A fishing trip to cure arrhythmogenic cardiomyopathy? 61
26015932 2015
32
Normalization of Naxos plakoglobin levels restores cardiac function in mice. 61
25705887 2015
33
Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challenges. 61
25548613 2014
34
HeartWare LVAD implantation in a patient with a rare ARVD: Carvajal syndrome. 61
25044388 2014
35
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy. 61
24187773 2013
36
Naxos disease evolution mimicking acute myocarditis: the role of cardiovascular magnetic resonance imaging. 61
23336952 2013
37
Naxos disease and Carvajal variant. 61
23942402 2013
38
Naxos disease: an unusual cause of cardiomyopathy. 61
23703567 2013
39
How do keratinizing disorders and blistering disorders overlap? 61
23039137 2013
40
Anaesthesia in Naxos disease: first case report. 61
23448613 2013
41
Living after sudden death: A case report of Naxos disease. 61
23559728 2012
42
Lack of plakoglobin in epidermis leads to keratoderma. 61
22315228 2012
43
Cardiac magnetic resonance can early assess the presence and severity of heart involvement in Naxos disease. 61
21640403 2012
44
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. 61
22572432 2012
45
Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy. 61
21880664 2011
46
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. 61
21789513 2011
47
Naxos disease in two siblings. 61
21188028 2010
48
The discovery of Naxos disease. 61
19891084 2009
49
Naxos disease presenting with ventricular tachycardia and troponin elevation. 61
19165571 2009
50
Disparate effects of different mutations in plakoglobin on cell mechanical behavior. 61
18937352 2008

Variations for Naxos Disease

ClinVar genetic disease variations for Naxos Disease:

6 (show top 50) (show all 306) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JUP NM_002230.4(JUP):c.188del (p.Gln63fs)deletion Pathogenic 464030 rs1555606936 17:39927919-39927919 17:41771667-41771667
2 JUP NM_002230.4(JUP):c.1455_1462del (p.Val486fs)deletion Pathogenic 659497 17:39919270-39919277 17:41763018-41763025
3 JUP NM_002230.4(JUP):c.1807del (p.Val603fs)deletion Pathogenic 641938 17:39914003-39914003 17:41757751-41757751
4 JUP NM_002230.4(JUP):c.545C>A (p.Ser182Ter)SNV Pathogenic 857898 17:39925383-39925383 17:41769131-41769131
5 JUP NC_000017.11:g.(?_41771637)_(41771864_?)deldeletion Pathogenic 831627 17:39927889-39928116
6 JUP NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)deletion Pathogenic 13599 rs113994177 17:39913674-39913675 17:41757422-41757423
7 JUP NM_002230.4(JUP):c.794G>A (p.Arg265His)SNV Pathogenic 212751 rs782440692 17:39923746-39923746 17:41767494-41767494
8 JUP NM_002230.4(JUP):c.71C>A (p.Ser24Ter)SNV Pathogenic 212748 rs782460555 17:39928036-39928036 17:41771784-41771784
9 JUP NM_002230.4(JUP):c.468G>A (p.Pro156=)SNV Pathogenic 212749 rs886037753 17:39925670-39925670 17:41769418-41769418
10 JUP NM_002230.4(JUP):c.1615C>T (p.Gln539Ter)SNV Pathogenic 212750 rs797046139 17:39915005-39915005 17:41758753-41758753
11 JUP NM_002230.4(JUP):c.208+1G>ASNV Likely pathogenic 663513 17:39927898-39927898 17:41771646-41771646
12 JUP NM_002230.4(JUP):c.1924+1G>ASNV Likely pathogenic 641014 17:39913885-39913885 17:41757633-41757633
13 JUP NM_002230.4(JUP):c.*853C>TSNV Conflicting interpretations of pathogenicity 890078 17:39911143-39911143 17:41754891-41754891
14 JUP NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)SNV Conflicting interpretations of pathogenicity 468745 rs376051686 17:39915113-39915113 17:41758861-41758861
15 JUP NM_002230.4(JUP):c.1762C>T (p.Leu588=)SNV Conflicting interpretations of pathogenicity 506888 rs781900856 17:39914662-39914662 17:41758410-41758410
16 JUP NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)SNV Conflicting interpretations of pathogenicity 409985 rs555499592 17:39913731-39913731 17:41757479-41757479
17 JUP NM_002230.4(JUP):c.561C>T (p.Ala187=)SNV Conflicting interpretations of pathogenicity 468756 rs139552714 17:39925367-39925367 17:41769115-41769115
18 JUP NM_002230.4(JUP):c.475G>T (p.Val159Leu)SNV Conflicting interpretations of pathogenicity 468754 rs782702266 17:39925453-39925453 17:41769201-41769201
19 JUP NM_002230.4(JUP):c.1815C>T (p.Ala605=)SNV Conflicting interpretations of pathogenicity 496451 rs543862977 17:39913995-39913995 17:41757743-41757743
20 JUP NM_002230.4(JUP):c.192G>A (p.Gly64=)SNV Conflicting interpretations of pathogenicity 496452 rs141237794 17:39927915-39927915 17:41771663-41771663
21 JUP NM_002230.4(JUP):c.1290A>G (p.Thr430=)SNV Conflicting interpretations of pathogenicity 504992 rs897549158 17:39919442-39919442 17:41763190-41763190
22 JUP NM_002230.4(JUP):c.694G>A (p.Val232Ile)SNV Conflicting interpretations of pathogenicity 536636 rs137989964 17:39925234-39925234 17:41768982-41768982
23 JUP NM_002230.4(JUP):c.*1027G>CSNV Conflicting interpretations of pathogenicity 889386 17:39910969-39910969 17:41754717-41754717
24 JUP NM_002230.4(JUP):c.909+6C>TSNV Conflicting interpretations of pathogenicity 36426 rs193922705 17:39923625-39923625 17:41767373-41767373
25 JUP NM_002230.4(JUP):c.1377G>T (p.Leu459=)SNV Conflicting interpretations of pathogenicity 45834 rs147370522 17:39919355-39919355 17:41763103-41763103
26 JUP NM_002230.4(JUP):c.1563A>G (p.Ala521=)SNV Conflicting interpretations of pathogenicity 45837 rs149926974 17:39915057-39915057 17:41758805-41758805
27 JUP NM_002230.4(JUP):c.1942G>A (p.Val648Ile)SNV Conflicting interpretations of pathogenicity 45842 rs143043662 17:39913771-39913771 17:41757519-41757519
28 JUP NM_002230.4(JUP):c.2047-14C>GSNV Conflicting interpretations of pathogenicity 45843 rs116666639 17:39912480-39912480 17:41756228-41756228
29 JUP NM_002230.4(JUP):c.2178C>T (p.Ile726=)SNV Conflicting interpretations of pathogenicity 45846 rs141295561 17:39912056-39912056 17:41755804-41755804
30 JUP NM_002230.4(JUP):c.297G>A (p.Ser99=)SNV Conflicting interpretations of pathogenicity 45848 rs200976464 17:39925841-39925841 17:41769589-41769589
31 JUP NM_002230.4(JUP):c.708-4C>GSNV Conflicting interpretations of pathogenicity 45855 rs201313464 17:39923836-39923836 17:41767584-41767584
32 JUP NM_002230.4(JUP):c.777C>T (p.Gly259=)SNV Conflicting interpretations of pathogenicity 45857 rs34890640 17:39923763-39923763 17:41767511-41767511
33 JUP NM_002230.4(JUP):c.486G>A (p.Ala162=)SNV Conflicting interpretations of pathogenicity 45852 rs113317262 17:39925442-39925442 17:41769190-41769190
34 JUP NM_002230.4(JUP):c.2031G>A (p.Pro677=)SNV Conflicting interpretations of pathogenicity 137961 rs188888662 17:39913682-39913682 17:41757430-41757430
35 JUP NM_002230.4(JUP):c.*21C>ASNV Conflicting interpretations of pathogenicity 137964 rs41275669 17:39911975-39911975 17:41755723-41755723
36 JUP NM_002230.4(JUP):c.*2C>TSNV Conflicting interpretations of pathogenicity 163706 rs112879398 17:39911994-39911994 17:41755742-41755742
37 JUP NM_002230.4(JUP):c.801C>T (p.Ala267=)SNV Conflicting interpretations of pathogenicity 163723 rs138397457 17:39923739-39923739 17:41767487-41767487
38 JUP NM_002230.4(JUP):c.1989C>T (p.Arg663=)SNV Conflicting interpretations of pathogenicity 178039 rs145175985 17:39913724-39913724 17:41757472-41757472
39 JUP NM_002230.4(JUP):c.1959C>T (p.Ser653=)SNV Conflicting interpretations of pathogenicity 178040 rs375451560 17:39913754-39913754 17:41757502-41757502
40 JUP NM_002230.4(JUP):c.1910G>A (p.Arg637His)SNV Conflicting interpretations of pathogenicity 178041 rs142095597 17:39913900-39913900 17:41757648-41757648
41 JUP NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)SNV Conflicting interpretations of pathogenicity 191672 rs199826380 17:39919560-39919560 17:41763308-41763308
42 JUP NM_002230.4(JUP):c.958C>T (p.Arg320Cys)SNV Conflicting interpretations of pathogenicity 201833 rs200740462 17:39921271-39921271 17:41765019-41765019
43 JUP NM_002230.4(JUP):c.902A>G (p.Glu301Gly)SNV Conflicting interpretations of pathogenicity 222662 rs782058451 17:39923638-39923638 17:41767386-41767386
44 JUP NM_002230.4(JUP):c.560C>T (p.Ala187Val)SNV Conflicting interpretations of pathogenicity 222660 rs782370709 17:39925368-39925368 17:41769116-41769116
45 JUP NM_002230.4(JUP):c.1054+7A>TSNV Conflicting interpretations of pathogenicity 227446 rs371988639 17:39921168-39921168 17:41764916-41764916
46 JUP NM_002230.4(JUP):c.1218C>T (p.Asn406=)SNV Conflicting interpretations of pathogenicity 227447 rs782565128 17:39919514-39919514 17:41763262-41763262
47 JUP NM_002230.4(JUP):c.2086+13C>TSNV Conflicting interpretations of pathogenicity 227449 rs199935213 17:39912414-39912414 17:41756162-41756162
48 JUP NM_002230.4(JUP):c.1807G>T (p.Val603Leu)SNV Conflicting interpretations of pathogenicity 180376 rs200327969 17:39914003-39914003 17:41757751-41757751
49 JUP NM_002230.4(JUP):c.1366G>A (p.Val456Ile)SNV Conflicting interpretations of pathogenicity 180375 rs78437817 17:39919366-39919366 17:41763114-41763114
50 JUP NM_002230.4(JUP):c.406G>C (p.Asp136His)SNV Conflicting interpretations of pathogenicity 201810 rs782392706 17:39925732-39925732 17:41769480-41769480

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 (ARVC) hsa05412

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 desmosome GO:0030057 9.93 PKP3 PKP2 PKP1 JUP DSP DSG4
5 adherens junction GO:0005912 9.91 PKP3 PKP2 PKP1 JUP DSC2 CTNNA3
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 cell-cell junction GO:0005911 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 19)
# 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 9.76 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 9.57 RYR2 PKP2
17 intermediate filament bundle assembly GO:0045110 9.55 PKP2 PKP1
18 negative regulation of mRNA catabolic process GO:1902373 9.52 PKP3 PKP1
19 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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