KEGG   DISEASE: Striate palmoplantar keratoderma
Entry
H00717                      Disease                                
Name
Striate palmoplantar keratoderma
  Supergrp
Palmoplantar keratoderma [DS:H01673]
Description
Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00717  Striate palmoplantar keratoderma
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00717  Striate palmoplantar keratoderma
  nt06545  Cornified envelope formation
   H00717  Striate palmoplantar keratoderma
Pathway
hsa04820 Cytoskeleton in muscle cells   
hsa04382 Cornified envelope formation   
Network
nt06539 Cytoskeleton in muscle cells
nt06545 Cornified envelope formation
Gene
(PPKS1) DSG1 [HSA:1828] [KO:K07596]
(PPKS2) DSP [HSA:1832] [KO:K10381]
(PPKS3) KRT1 [HSA:3848] [KO:K07605]
Other DBs
ICD-11: EC20.31
MeSH: C536162 C565102 C536163
OMIM: 148700 612908 607654
Reference
PMID:20883380
  Authors
Kawai K, Fukushige T, Sakanoue M, Kanekura T
  Title
Striate palmoplantar keratoderma.
  Journal
J Dermatol 37:854-6 (2010)
DOI:10.1111/j.1346-8138.2010.00874.x
Reference
PMID:18627762
  Authors
Bragg J, Rizzo C, Mengden S
  Title
Striate palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome).
  Journal
Dermatol Online J 14:26 (2008)
DOI:10.5070/D33nq345bt
Reference
PMID:19558595 (PPKS1)
  Authors
Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS
  Title
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.
  Journal
Br J Dermatol 161:692-4 (2009)
DOI:10.1111/j.1365-2133.2009.09316.x
Reference
PMID:9887343 (PPKS2)
  Authors
Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE
  Title
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
  Journal
Hum Mol Genet 8:143-8 (1999)
DOI:10.1093/hmg/8.1.143
Reference
PMID:11982762 (PPKS3)
  Authors
Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA
  Title
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
  Journal
J Invest Dermatol 118:838-44 (2002)
DOI:10.1046/j.1523-1747.2002.01750.x
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