KEGG   DISEASE: Marfan syndrome
Entry
H00653                      Disease                                

Name
Marfan syndrome
  Subgroup
Marfan lipodystrophy syndrome
Description
Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations are significant contributors to morbidity and mortality. MFS is caused by mutations in the gene for fibrillin-1.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00653  Marfan syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H00653  Marfan syndrome
Gene
FBN1 [HSA:2200] [KO:K06825]
Other DBs
ICD-11: LD28.01
ICD-10: Q87.4
MeSH: D008382
OMIM: 154700 616914
Reference
  Authors
Robinson PN, Booms P
  Title
The molecular pathogenesis of the Marfan syndrome.
  Journal
Cell Mol Life Sci 58:1698-707 (2001)
DOI:10.1007/PL00000807
Reference
  Authors
Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M
  Title
The molecular genetics of Marfan syndrome and related disorders.
  Journal
J Med Genet 43:769-87 (2006)
DOI:10.1136/jmg.2005.039669
Reference
  Authors
Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T
  Title
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
  Journal
Hum Mutat 20:153-61 (2002)
DOI:10.1002/humu.10113
Reference
  Authors
Robinson PN, Godfrey M
  Title
The molecular genetics of Marfan syndrome and related microfibrillopathies.
  Journal
J Med Genet 37:9-25 (2000)
DOI:10.1136/jmg.37.1.9
Reference
  Authors
Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E
  Title
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
  Journal
Am J Med Genet A 152A:2749-55 (2010)
DOI:10.1002/ajmg.a.33690

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