DSG4, desmoglein 4, 147409

N. diseases: 40; N. variants: 10
Disease: Total Hypotrichosis, Mari type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.060 GeneticVariation disease BEFREE Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. 26173648 2015
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.060 GeneticVariation disease BEFREE A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. 25251037 2015
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.060 Biomarker disease BEFREE For these three loci, two genes DSG4 for LAH1 and LIPH for LAH2 have been identified. 18445047 2008
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.060 GeneticVariation disease BEFREE Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. 16543896 2006
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.060 GeneticVariation disease BEFREE Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. 16770573 2006
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.060 GeneticVariation disease BEFREE Mutations in DSG4 have been previously reported in localized autosomal recessive hypotrichosis, a disorder that shares the clinical features of monilethrix but lacks the characteristic microscopic appearance of the hair shaft. 16575393 2006