KEGG DISEASE: Marfan syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00653  Marfan syndrome
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00653  Marfan syndrome

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06507 TGFB signaling
nt06539 Cytoskeleton in muscle cells

Gene

FBN1 [HSA:2200] [KO:K06825]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:11706995

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

PMID:16571647

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

PMID:12203987

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

PMID:10633129

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

PMID:20979188

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

» Japanese version

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Network (3)   
   KEGG NETWORK (2)   
   KEGG VARIANT (1)   
Disease (2)   
   OMIM (2)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (5)   
   PubMed (5)   
All databases (12)   

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