KEGG   VARIANT: 1828v1
Entry
1828v1                      Variant                                
Name
DSG1 mutation
Type
Loss of function
Gene
DSG1  desmoglein 1 [KO:K07596]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125670
Network
nt06545  Cornified envelope formation
Disease
H00717  Striate palmoplantar keratoderma
Reference
  Authors
Keren H, Bergman R, Mizrachi M, Kashi Y, Sprecher E
  Title
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.
  Journal
Arch Dermatol 141:625-8 (2005)
DOI:10.1001/archderm.141.5.625
Reference
  Authors
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E
  Title
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
  Journal
Nat Genet 45:1244-1248 (2013)
DOI:10.1038/ng.2739
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