KEGG   DISEASE: Geroderma osteodysplasticum
Entry
H00558                      Disease                                
Name
Geroderma osteodysplasticum
Description
Geroderma osteodysplasticum is a rare autosomal recessive disorder characterized by wrinkled skin and severe osteopenia with spontaneous fractures and the lack of large open fontanels. Mutations have been discovered in SCYL1BP1, which localizes to the Golgi apparatus and is expressed in skin and osteoblasts.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H00558  Geroderma osteodysplasticum
Gene
SCYL1BP1 [HSA:92344] [KO:K19748]
PYCR1 [HSA:5831] [KO:K00286]
Other DBs
ICD-11: LD2B
MeSH: C537799
OMIM: 231070 612940
Reference
PMID:19401719
  Authors
Morava E, Guillard M, Lefeber DJ, Wevers RA
  Title
Autosomal recessive cutis laxa syndrome revisited.
  Journal
Eur J Hum Genet 17:1099-110 (2009)
DOI:10.1038/ejhg.2009.22
Reference
PMID:18348262
  Authors
Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, Mundlos S
  Title
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.
  Journal
Am J Med Genet A 146A:965-76 (2008)
DOI:10.1002/ajmg.a.32143
Reference
PMID:18997784
  Authors
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kuhnisch J, Budde B, Natebus M, Brancati F, Wilcox WR, Muller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nurnberg P, Wieacker P, Mundlos S
  Title
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
  Journal
Nat Genet 40:1410-2 (2008)
DOI:10.1038/ng.252
Reference
PMID:21204221
  Authors
Yildirim Y, Tolun A, Tuysuz B
  Title
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
  Journal
Am J Med Genet A 155A:134-40 (2011)
DOI:10.1002/ajmg.a.33747

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Disease (2)   
   OMIM (2)   
All databases (2)   

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