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: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 Biomarker disease BEFREE Mutations in four main genes, keratin 9 (KRT9), keratin 1 (KRT1), desmoglein (DSG1), and desmoplakin (DSP), have been associated with PPK. 31192455 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 GeneticVariation disease BEFREE The novel missense mutation c.3550 C>T(p.Arg1184Trp) of DSP gene expanded the mutation spectrum in palmoplantar keratoderma. 29607617 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 GeneticVariation disease BEFREE Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. 31037311 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 GeneticVariation disease BEFREE We delineated three major phenotypes: the PPK-hair shaft anomalies-non-fragile skin subtype (77%), always associated with cardiac involvement; the PPK-hair shaft anomalies-skin fragility-normal cardiac function subtype (19.9%), frequently associated with PKP1 mutations; the PPK-hair shaft anomalies-skin fragility-cardiac involvement subtype (3.1%), always due to DSP mutations. 26399581 2016
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 GeneticVariation disease BEFREE Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139 2015
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 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: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 GeneticVariation disease BEFREE Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications. 17045679 2007
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 GeneticVariation disease BEFREE Mutations in the plakoglobin and desmoplakin genes have been identified to underlie recessive ARVC associated with woolly hair and palmoplantar keratoderma (Naxos disease), while mutations in plakophilin2, desmoglein2 as well as desmoplakin have been identified to underlie the dominant non-syndromic form. 16698823 2006
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 GeneticVariation disease BEFREE It is interesting that a nonsense DSP mutation was reported elsewhere in the literature, inherited as a recessive trait and causing a biventricular dilative cardiomyopathy associated with palmoplantar keratoderma and woolly hairs. 12373648 2002
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 Biomarker disease BEFREE Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. 9887343 1999
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.200 Biomarker disease HPO