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: C0740281
Disease: Multiple allergies
Multiple allergies
0.010 GeneticVariation disease BEFREE Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation in the desmoplakin (DSP) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome (Mendelian Inheritance in Man no.615508). 27154412 2016