H00434 | |
H number | H00434 |
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 lead to increased proliferation of osteoblasts in CED. |
Category | Congenital malformation |
Network | nt06507(H00434) TGFB signaling |
Gene | TGFB1 [HSA:7040] [KO:K13375] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.1Y ICD-10: Q78.3 MeSH: D003966 OMIM: 131300 |
Reference | PMID:10973241 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 PMID:15103729 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 PMID:11278244 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 PMID:20301335 AUTHORS Wallace SE, Wilcox WR TITLE Camurati-Engelmann Disease JOURNAL GeneReviews (1993) |