KEGG DISEASE: Shprintzen-Goldberg syndrome

DISEASE: Shprintzen-Goldberg syndrome

Entry

H00659                      Disease

Name

Shprintzen-Goldberg syndrome

Description

Shprintzen-Goldberg syndrome (SGS) is a group of disorders characterized by craniosynostosis, neurologic abnormalities, and Marfanoid findings. It is a condition that involves skeletal changes and cardiovascular anomalies.

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
    H00659  Shprintzen-Goldberg syndrome

Gene

SKI [HSA:6497] [KO:K26503]

Comment

For closely related Marfan syndrome, see H00653.

Other DBs

ICD-11:

LD28.0Y

MeSH:

C537328

OMIM:

182212

Reference

PMID:20301454

Authors

Greally MT

Title

Shprintzen-Goldberg Syndrome

Journal

GeneReviews (1993)

Reference

PMID:8563763

Authors

Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC

Title

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

Journal

Nat Genet 12:209-11 (1996)
DOI:10.1038/ng0296-209

Reference

PMID:16333834

Authors

Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T

Title

Molecular pathology of Shprintzen-Goldberg syndrome.

Journal

Am J Med Genet A 140:104-8; author reply 109-10 (2006)
DOI:10.1002/ajmg.a.31006

Reference

PMID:9508238

Authors

Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW

Title

Shprintzen-Goldberg syndrome: a clinical analysis.

Journal

Am J Med Genet 76:202-12 (1998)
DOI:10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S

Reference

PMID:23023332

Authors

Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destree A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC

Title

Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Journal

Nat Genet 44:1249-54 (2012)
DOI:10.1038/ng.2421

LinkDB

» Japanese version

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