KEGG   DISEASE: MASS phenotype
Entry
H00661                      Disease                                

Name
MASS phenotype
Description
MASS Phenotype (Mitral valve prolapse, Aortic dilatation without dissection, Skeletal and Skin abnormalities) is one of the FBN1-related disorders similar to Marfan syndrome. Reduced expression of FBN1 due to a 4 bp deletion in exon 41 is the cause of MASS phenotype.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00661  MASS phenotype
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
    H00661  MASS phenotype
Gene
FBN1 [HSA:2200] [KO:K06825]
Comment
For Marfan syndrome, see H00653.
Other DBs
ICD-11: LD28.0Y
ICD-10: Q87
MeSH: C536030
OMIM: 604308
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, 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:8406497
  Authors
Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA
  Title
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
  Journal
Genomics 17:468-75 (1993)
DOI:10.1006/geno.1993.1349

» Japanese version

DBGET integrated database retrieval system