DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Mucocutaneous herpes simplex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1739133
Disease: Mucocutaneous herpes simplex
Mucocutaneous herpes simplex 		0.010 GeneticVariation disease BEFREE We report here a patient with a novel DSP spectrin region (SR) 6 variant c.1756C>T, p.(His586Tyr), novel features of brain lesions and severe recurrent mucocutaneous herpes simplex virus infections, with a favourable response to ustekinumab. 31037311 2019