KEGG   DISEASE: Frontometaphyseal dysplasiaHelp
Entry
H02227                      Disease                                

Name
Frontometaphyseal dysplasia
Description
Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause FMD.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02227  Frontometaphyseal dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD25  Syndromes with face or limb anomalies as a major feature
    H02227  Frontometaphyseal dysplasia
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
Gene
(FMD1) FLNA [HSA:2316] [KO:K04437]
(FMD2) MAP3K7 [HSA:6885] [KO:K04427]
Other DBs
ICD-11: LD25.1
ICD-10: Q78.5
MeSH: C538064
OMIM: 305620 617137
Reference
  Authors
Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D
  Title
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
  Journal
Am J Med Genet A 140:1726-36 (2006)
DOI:10.1002/ajmg.a.31322
Reference
  Authors
Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP
  Title
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
  Journal
Am J Hum Genet 99:392-406 (2016)
DOI:10.1016/j.ajhg.2016.05.024

» Japanese version

DBGET integrated database retrieval system