Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
|
10594734 |
1999 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
|
11063735 |
2000 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
|
11063735 |
2000 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
The desmoplakin mutation in Carvajal syndrome produces a cardiomyopathy with unique pathologic features.
|
14761782 |
2004 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.
|
16061754 |
2005 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogenic right ventricular dysplasia, skin fragility/woolly hair syndrome, Naxos-like disease, and Carvajal syndrome.
|
16175511 |
2005 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
16917092 |
2006 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the reported desmoplakin mutations associated with Carvajal Syndrome, another ARVC disease, that it is also accompanied with a skin and hair disorder, also failed to reveal mutations in desmoplakin gene.
|
17045679 |
2007 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
|
19095136 |
2008 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
|
19279339 |
2009 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.
|
20716751 |
2010 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
|
20864495 |
2010 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
|
20940358 |
2011 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
CTD_human |
Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.
|
21193976 |
2011 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient.
|
21789513 |
2011 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.
|
21859740 |
2011 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS).
|
23137101 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians.
|
23500315 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23671136 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23671136 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
23810894 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
|
24070718 |
2013 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
GeneticVariation
|
disease |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
Cardiomyopathy dilated with Woolly hair and keratoderma
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |