KEGG DISEASE: MASS phenotype

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 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

MeSH:

C536030

OMIM:

604308

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: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: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

LinkDB

» Japanese version

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