DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015202
Disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR 		0.010 GeneticVariation disease BEFREE The phenotypic triad of arrhythmogenic right ventricular cardiomyopathy (ARVC) associated with palmoplantar keratoderma and woolly hair has been previously associated with homozygous mutations in both plakoglobin and desmoplakin, which are both critical components of the desmosome. 18957847 2009