DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Severe dermatitis, multiple allergies, metabolic wasting syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809719
Disease: Severe dermatitis, multiple allergies, metabolic wasting syndrome
Severe dermatitis, multiple allergies, metabolic wasting syndrome 		0.320 GeneticVariation disease BEFREE The distinctive manifestations of erythroderma with severe itching, hypotrichosis, enamel defects, onychodystrophy, palmoplantar keratoderma and the crucial result of de novo missense mutation in exon 14 of the DSP gene (c.1828T>C, p.S610P) discovered by next-generation sequencing finally confirmed the diagnosis of SAM syndrome. 31106887 2019
CUI: C3809719
Disease: Severe dermatitis, multiple allergies, metabolic wasting syndrome
Severe dermatitis, multiple allergies, metabolic wasting syndrome 		0.320 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
CUI: C3809719
Disease: Severe dermatitis, multiple allergies, metabolic wasting syndrome
Severe dermatitis, multiple allergies, metabolic wasting syndrome 		0.320 GermlineCausalMutation disease ORPHANET Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. 26073755 2015