KEGG   DISEASE: Camurati-Engelmann disease
Entry
H00434                      Disease                                

Name
Camurati-Engelmann disease;
Progressive diaphyseal dysplasia
Description
Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and leads to increased proliferation of osteoblasts in CED.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00434  Camurati-Engelmann disease
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00434  Camurati-Engelmann disease
Pathway
hsa04350  TGF-beta signaling pathway
Gene
TGFB1 [HSA:7040] [KO:K13375]
Other DBs
ICD-11: LD24.1Y
ICD-10: Q78.3
MeSH: D003966
OMIM: 131300
Reference
  Authors
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K
  Title
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
  Journal
Nat Genet 26:19-20 (2000)
DOI:10.1038/79128
Reference
  Authors
Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K
  Title
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
  Journal
Am J Med Genet A 127A:104-7 (2004)
DOI:10.1002/ajmg.a.20671
Reference
  Authors
Saito T, Kinoshita A, Yoshiura Ki, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N
  Title
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
  Journal
J Biol Chem 276:11469-72 (2001)
DOI:10.1074/jbc.C000859200
Reference
PMID:20301335 (marker)
  Authors
Wallace SE, Wilcox WR
  Title
Camurati-Engelmann Disease
  Journal
GeneReviews (1993)

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