DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.960 GeneticVariation disease BEFREE Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 25824144 2016
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
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
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GeneticVariation disease BEFREE Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). 29607617 2019
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GeneticVariation disease BEFREE One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized by extensive postnatal shedding of epidermis leading to early demise and is caused by recessive mutations in the gene DSP resulting in truncation of the desmoplakin C-terminus. 20302578 2010
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 Biomarker disease BEFREE Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 16175511 2005
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, lethal acantholytic 		0.740 GeneticVariation disease BEFREE Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP). 19945626 2010
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		0.720 GeneticVariation disease BEFREE Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 11841538 2002
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		0.720 GeneticVariation disease BEFREE Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. 20738328 2011
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.660 GeneticVariation disease BEFREE Two genome-wide association studies and one sequencing study have coincidently reported significant associations of single nucleotide polymorphisms (SNPs) in the desmoplakin (DSP) gene with the risk of pulmonary fibrosis (mainly idiopathic pulmonary fibrosis). 30207747 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.660 Biomarker disease BEFREE In burden tests, rare missense variants in three genes (CSF3R, DSP, and LAMA3) were identified that have a statistically significant relationship with IPF. 29920840 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.660 AlteredExpression disease BEFREE DSP expression is 2.3-fold increased (95% CI = 1.91-2.71) in IPF lung tissue (P < 0.0001). 26669357 2016
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.660 GeneticVariation disease BEFREE However, in the candidate region analysis, rs2076295 in the DSP gene, previously associated with COPD, lung function and idiopathic pulmonary fibrosis, was associated with change in %LAA-950 (β (SE) = 0.09 (0.02), P = 3.79e-05) and in ALD (β (SE) = - 0.06 (0.02), P = 2.88e-03). 31324189 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.660 AlteredExpression disease BEFREE Subjects with IPF express a significantly higher level of DSP than control subjects. 29924937 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.660 GeneticVariation disease BEFREE We identified a novel genome-wide significant signal of association with IPF susceptibility near A-kinase anchoring protein 13 (AKAP13; rs62025270, odds ratio [OR] 1·27 [95% CI 1·18-1·37], p=1·32 × 10<sup>-9</sup>) and confirmed previously reported signals, including in mucin 5B (MUC5B; rs35705950, OR 2·89 [2·56-3·26], p=1·12 × 10<sup>-66</sup>) and desmoplakin (DSP; rs2076295, OR 1·44 [1·35-1·54], p=7·81 × 10<sup>-28</sup>). 29066090 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation group BEFREE Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. 23137101 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation group BEFREE An extensive single-family ACM cohort was assembled, revealing a pattern of coinheritance for R451G desmoplakin and the ACM phenotype. 31194698 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation group BEFREE Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. 24825141 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation group BEFREE DSP c.1339C>T is associated with an aggressive clinical phenotype of left-dominant arrhythmogenic cardiomyopathy and left ventricular non-compaction. 24938629 2014
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation group BEFREE In patients with BrS with midwall LGE there were no other features of cardiomyopathy at the time of CMR, but genetic testing and follow-up revealed a desmoplakin mutation in 1 patient and evolution of T-wave inversion throughout all precordial ECG leads in another. 27919765 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 GeneticVariation group BEFREE Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 30382575 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.500 Biomarker group BEFREE Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 16467215 2006