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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: Cardiomyopathies (D009202)
Parent Node: Hair Diseases (D006201)
Parent Node: Keratoderma, Palmoplantar (D007645)
..Starting node ..Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
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:

1739

Name:

Cardiomyopathy dilated with Woolly hair and keratoderma

Definition:

Alternative IDs:

OMIM:605676

ParentIDs:

MESH:D006201|MESH:D007645|MESH:D009202

TreeNumbers:

C14.280.238/C535581 |C16.320.850.475/C535581 |C17.800.329/C535581 |C17.800.428.435/C535581 |C17.800.827.475/C535581

Synonyms:

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |Carvajal syndrome |DCWHK |Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy |Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair

Slim Mappings:

Cardiovascular disease|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C535581
MeSH: C535581
OMIM: 605676;

Genes: DSP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0007475	Congenital bullous ichthyosiform erythroderma
4	HP:0001635	Congestive heart failure
5	HP:0001644	Dilated cardiomyopathy
6	HP:0000982	Palmoplantar keratoderma
7	HP:0009804	Tooth agenesis
8	HP:0004756	Ventricular tachycardia	HP:0040283
9	HP:0002224	Woolly hair

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_004415.3(DSP):c.2091A= (p.Gly697=)	1832	DSP	Benign	2076304	RCV000206052; RCV000154389;	N	MedGen:C1843896,OMIM:607450; MedGen:C1854063,OMIM:605676,ORPHA:65282; MedGen:CN169374	6	7572262	7572262	NM_004415.3:c.2091A=	NP_004406.2:p.Gly697=	NC_000006.11:g.7572262Ax3d,NC_000006.11:g.7572262A>G	-	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8; C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma; CN169374 not specified
NM_004415.3(DSP):c.2815G>A (p.Gly939Ser)	1832	DSP	Benign;Likely benign	80325569	RCV000029679; RCV000203998; RCV000038019;	N	MedGen:C0349788,ORPHA:247,SNOMED CT:253528005,SNOMED CT:281170005; MedGen:C1843896,OMIM:607450; MedGen:C1854063,OMIM:605676,ORPHA:65282; MedGen:CN169374	6	7577213	7577213	NM_004415.3:c.2815G>A	NP_004406.2:p.Gly939Ser		-	C0349788 Arrhythmogenic right ventricular cardiomyopathy; C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8; C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma; CN169374 not specified
NM_004415.3(DSP):c.3799C>T (p.Arg1267Ter)	1832	DSP	Likely pathogenic;Pathogenic	121912997	RCV000018339; RCV000157195;	N	MedGen:C0007193,ORPHA:217604,SNOMED CT:195021004; MedGen:C0023976,SNOMED CT:9651007; MedGen:C1854063,OMIM:605676,ORPHA:65282	6	7580222	7580222	NM_004415.3:c.3799C>T	NP_004406.2:p.Arg1267Ter		OMIM Allelic Variant:125647.0010	C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma; C0023976 Long QT syndrome; C0007193 Primary dilated cardiomyopathy
NM_004415.3(DSP):c.3963G>A (p.Gln1321=)	1832	DSP	Benign;Uncertain significance	61731476	RCV000204773; RCV000038032;	N	MedGen:C1843896,OMIM:607450; MedGen:C1854063,OMIM:605676,ORPHA:65282; MedGen:CN169374	6	7580386	7580386	NM_004415.3:c.3963G>A	NP_004406.2:p.Gln1321=		-	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8; C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma; CN169374 not specified
NM_004415.3(DSP):c.4009delG (p.Glu1337Argfs)	1832	DSP	Pathogenic	794727381	RCV000176401;	N	MedGen:C1854063,OMIM:605676,ORPHA:65282	6	7580432	7580432	NM_004415.3:c.4009delG	NP_004406.2:p.Glu1337Argfs	NC_000006.11:g.7580432delG	-	C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma
NM_004415.3(DSP):c.7623delG (p.Lys2542Serfs)	1832	DSP	Pathogenic	397514039	RCV000018331;	N	MedGen:C1854063,OMIM:605676,ORPHA:65282	6	7585118	7585118	NM_004415.3:c.7623delG	NP_004406.2:p.Lys2542Serfs	NC_000006.11:g.7585118delG	OMIM Allelic Variant:125647.0002	C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma
NM_004415.3(DSP):c.7780delT (p.Ser2594Profs)	1832	DSP	Pathogenic	397514045	RCV000054449;	N	MedGen:C1854063,OMIM:605676,ORPHA:65282	6	7585275	7585275	NM_004415.3:c.7780delT	NP_004406.2:p.Ser2594Profs	NC_000006.11:g.7585275delT	OMIM Allelic Variant:125647.0014	C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma
NM_004415.3(DSP):c.8301C>G (p.Thr2767=)	1832	DSP	Benign;Likely benign	145362059	RCV000029684; RCV000204143; RCV000038100;	N	MedGen:C0878544, Orphanet:ORPHA167848,SNOMED CT:85898001; MedGen:C1843896,OMIM:607450; MedGen:C1854063,OMIM:605676,ORPHA:65282; MedGen:CN169374	6	7585796	7585796	NM_004415.3:c.8301C>G	NP_004406.2:p.Thr2767=		-	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8; C0878544 Cardiomyopathy; C1854063 605676 Cardiomyopathy dilated with woolly hair and keratoderma; CN169374 not specified