KEGG   VARIANT: 1832v1
Entry
1832v1                      Variant                                
Name
DSP mutation
Type
Loss of function
Gene
DSP  desmoplakin [KO:K10381]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125647
Network
nt06539  Cytoskeleton in muscle cells
nt06545  Cornified envelope formation
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
H00717  Striate palmoplantar keratoderma
H01737  Epidermolysis bullosa
H02094  Carvajal syndrome
Reference
PMID:34343150
  Authors
Yuan ZY, Cheng LT, Wang ZF, Wu YQ
  Title
Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.
  Journal
Chin Med J (Engl) 134:1771-1779 (2021)
DOI:10.1097/CM9.0000000000001581
Reference
PMID:34815391
  Authors
Shoda T, Kaufman KM, Wen T, Caldwell JM, Osswald GA, Purnima P, Zimmermann N, Collins MH, Rehn K, Foote H, Eby MD, Zhang W, Ben-Baruch Morgenstern N, Ballaban AY, Habel JE, Kottyan LC, Abonia JP, Mukkada VA, Putnam PE, Martin LJ, Rothenberg ME
  Title
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
  Journal
Nat Commun 12:6795 (2021)
DOI:10.1038/s41467-021-26939-9
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