Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Simpson-Golabi-Behmel syndrome 1

Simpson-Golabi-Behmel syndrome type 1 is an X-linked multiple congenital anomalies syndrome caused by mutations of the GPC3 gene. It is characterized by pre- and postnatal overgrowth, craniofacial and other congenital malformations, organomegaly, and an increased tumor risk.

Systematic

Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2

References:

1.

Pilia G et al. (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

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2.

Xuan JY et al. (1999) A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.

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3.

Rodríguez-Criado G et al. (2005) Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

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4.

Sakazume S et al. (2007) GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

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5.

Romanelli V et al. (2007) Germinal mosaicism in Simpson-Golabi-Behmel syndrome.

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6.

Pénisson-Besnier I et al. (2008) Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.

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7.

Gurrieri F et al. (1992) Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.

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8.

Hughes-Benzie R et al. (1992) The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.

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9.

Hughes-Benzie RM et al. () Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

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10.

König R et al. () Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.

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11.

Behmel A et al. () A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.

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12.

Neri G et al. () Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.

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13.

Opitz JM et al. () Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.

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14.

Niikawa N et al. (1986) The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.

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15.

Punnett HH et al. (1974) An (X;1) translocation, balanced, 46 chromosomes. Repository identification no. GM-97.

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16.

Behmel A et al. (1984) A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

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17.

Golabi M et al. (1984) A new X-linked mental retardation-overgrowth syndrome.

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18.

None (1984) The Golabi-Rosen syndrome--report of a second family.

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19.

Kajii T et al. (1984) The Golabi-Rosen syndrome.

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20.

Tsukahara M et al. (1984) A Weaver-like syndrome in a Japanese boy.

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21.

Verloes A et al. (1995) Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.

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22.

Xuan JY et al. (1994) Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.

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23.

Orth U et al. (1994) Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.

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24.

None (1994) Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation.

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25.

Chen E et al. (1993) Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.

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26.

Terespolsky D et al. (1995) Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

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27.

Neri G et al. (1998) Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.

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28.

Veugelers M et al. (1998) GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.

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29.

Lin AE et al. (1999) Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.

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30.

Kim S et al. (1999) Choledochal cyst in Simpson-Golabi-Behmel syndrome.

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31.

Li M et al. (2001) GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

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32.

Cureton E et al. (2007) Hepatic vascular malformation in a patient with Simpson-Golabi-Behmel syndrome.

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33.

Griffith CB et al. (2009) Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.

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34.

Gertsch E et al. (2010) Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome.

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35.

Yano S et al. (2011) Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

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36.

Waterson J et al. (2010) Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.

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37.

Gurrieri F et al. (2011) The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

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38.

Garganta CL et al. (1992) Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.

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39.

OMIM.ORG article

Omim 312870 [^]
40.

Wikipedia article

Wikipedia EN (Simpson–Golabi–Behmel_syndrome) [^]
Update: April 29, 2019