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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Arrhythmogenic Right Ventricular Dysplasia (D019571)
Parent Node: Hair Diseases (D006201)
Parent Node: Keratoderma, Palmoplantar (D007645)
..Starting node ..Naxos disease (C538346)
Child Nodes:
Sister Nodes:
..Acrokeratoelastoidosis of Costa (C535653)
..Alopecia congenita keratosis palmoplantaris (C537050)
..Basaran Yilmaz syndrome (C537660)
..Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Corneodermatoosseous syndrome (C536444)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..Judge Misch Wright syndrome (C537692)
..Keratoderma palmoplantar deafness (C536152)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Keratoderma, Palmoplantar, Diffuse (D015776) 7
..Keratoderma, Palmoplantar, Norrbotten Recessive Type (C565454)
..Keratosis focal palmoplantar gingival (C536157)
..Keratosis Palmaris et Plantaris with Clinodactyly (C563646)
..Keratosis palmoplantaris papulosa (C536161)
..Keratosis palmoplantaris striata 1 (C536162)
..Keratosis palmoplantaris striata 3 (C536163)
..Keratosis Palmoplantaris Striata II (C565102)
..Keratosis palmoplantaris with esophageal cancer (C536164)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..Naegeli syndrome (C538331)
..Naxos disease (C538346)
..Palmoplantar Hyperkeratosis And True Hermaphroditism (C567165)
..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..Palmoplantar Keratoderma with Deafness (C580359)
..Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads (C564171)
..Papillon-Lefevre Disease (D010214) 2
..Patel Bixler syndrome (C536306)
..Porokeratosis punctata palmaris et plantaris (C536338)
..Powell Venencie Gordon syndrome (C538358)
..Schopf-Schulz-Passarge Syndrome (C565607)
..Stern Lubinsky Durrie syndrome (C537488)
..Vohwinkel syndrome (C536457)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7789

Name:

Naxos disease

Definition:

Alternative IDs:

OMIM:601214

ParentIDs:

MESH:D006201|MESH:D007645|MESH:D019571

TreeNumbers:

C14.240.400.145/C538346 |C14.280.238.028/C538346 |C14.280.400.145/C538346 |C16.131.240.400.145/C538346 |C16.320.850.475/C538346 |C17.800.329/C538346 |C17.800.428.435/C538346 |C17.800.827.475/C538346

Synonyms:

Keratosis palmoplantaris with arrhythmogenic cardiomyopathy |Mal de Naxos |Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair |Woolly hair, palmoplantar keratoderma, and cardiac abnormalities

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C538346
MeSH: C538346
OMIM: 601214;

Genes: JUP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0031193	Abnormal morphology of right ventricular trabeculae	HP:0040284
3	HP:0100792	Acantholysis
4	HP:0001640	Cardiomegaly
5	HP:0001635	Congestive heart failure
6	HP:0002212	Curly hair
7	HP:0001644	Dilated cardiomyopathy
8	HP:0025092	Epidermal acanthosis
9	HP:0001030	Fragile skin
10	HP:0008404	Nail dystrophy
11	HP:0001806	Onycholysis
12	HP:0000982	Palmoplantar keratoderma
13	HP:0000982	Palmoplantar keratoderma	HP:0040284
14	HP:0001962	Palpitations	HP:0040284
15	HP:0004751	Paroxysmal ventricular tachycardia
16	HP:0006682	Premature ventricular contraction	HP:0040284
17	HP:0006677	Prolonged QRS complex	HP:0040284
18	HP:0011712	Right bundle branch block
19	HP:0011663	Right ventricular cardiomyopathy
20	HP:0000535	Sparse and thin eyebrow
21	HP:0001645	Sudden cardiac death
22	HP:0001699	Sudden death
23	HP:0001279	Syncope	HP:0040284
24	HP:0010872	T-wave inversion	HP:0040284
25	HP:0002224	Woolly hair	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002230.2(JUP):c.2089A>T (p.Met697Leu)	3728	JUP	Benign	1126821	RCV000020467; RCV000039075;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217; MedGen:CN169374	17	39912145	39912145	NM_002230.2:c.2089A>T	NP_002221.1:p.Met697Leu	NC_000017.10:g.39912145T>A	-	C1832600 601214 Naxos disease; CN169374 not specified
NM_021991.2(JUP):c.2038_2039delTG (p.Trp680Glyfs)	3728	JUP	Pathogenic	113994177	RCV000014569;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217	17	39913674	39913675	NM_021991.2:c.2038_2039delTG	NP_068831.1:p.Trp680Glyfs	NC_000017.10:g.39913674_39913675delCA	OMIM Allelic Variant:173325.0001	C1832600 601214 Naxos disease
NM_002230.2(JUP):c.1615C>T (p.Gln539Ter)	3728	JUP	Pathogenic	797046139	RCV000193584;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217	17	39915005	39915005	NM_002230.2:c.1615C>T	NP_002221.1:p.Gln539Ter	NC_000017.10:g.39915005G>A	OMIM Allelic Variant:173325.0005	C1832600 601214 Naxos disease
NM_002230.2(JUP):c.867C>T (p.Thr289=)	3728	JUP	Benign	2230407	RCV000030097; RCV000039089; RCV000205099;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217; MedGen:C1969081,OMIM:611528; MedGen:CN029864,OMIM:115000; MedGen:CN169374	17	39923673	39923673	NM_002230.2:c.867C>T	NP_002221.1:p.Thr289=	NC_000017.10:g.39923673G>A	-	C1969081 611528 Arrhythmogenic right ventricular cardiomyopathy, type 12; CN029864 115000 Cardiac arrhythmia; C1832600 601214 Naxos disease; CN169374 not specified
NM_002230.2(JUP):c.804C>T (p.Asp268=)	3728	JUP	Likely benign	782667629	RCV000204408;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217; MedGen:C1969081,OMIM:611528	17	39923736	39923736	NM_002230.2:c.804C>T	NP_002221.1:p.Asp268=		-	C1969081 611528 Arrhythmogenic right ventricular cardiomyopathy, type 12; C1832600 601214 Naxos disease
NM_002230.2(JUP):c.794G>A (p.Arg265His)	3728	JUP	Pathogenic	782440692	RCV000194635;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217	17	39923746	39923746	NM_002230.2:c.794G>A	NP_002221.1:p.Arg265His	NC_000017.10:g.39923746C>T	OMIM Allelic Variant:173325.0006	C1832600 601214 Naxos disease
NM_002230.2(JUP):c.71C>A (p.Ser24Ter)	3728	JUP	Pathogenic	782460555	RCV000194470;	N	MedGen:C1832600,OMIM:601214,ORPHA:34217	17	39928036	39928036	NM_002230.2:c.71C>A	NP_002221.1:p.Ser24Ter	NC_000017.10:g.39928036G>A,NC_000017.10:g.39928036G>T	OMIM Allelic Variant:173325.0003	C1832600 601214 Naxos disease