KEGG   DISEASE: Simpson-Golabi-Behmel syndrome
Entry
H01215                      Disease                                
Name
Simpson-Golabi-Behmel syndrome
  Supergrp
Heparan sulfate proteoglycan gene defects [DS:H00493]
Description
Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS are type 1, that appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene. SGBS type 2 is a severe variant, that is associated with defects in OFD1.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H01215  Simpson-Golabi-Behmel syndrome
Gene
(SGBS1) GPC3 [HSA:2719] [KO:K08109]
(SGBS2) OFD1 [HSA:8481] [KO:K16480]
Comment
Simpson-Golabi-Behmel syndrome, type 1 is also described in Heparan sulfate proteoglycan gene defects. [DS:H00493]
Other DBs
ICD-11: LD2C
MeSH: C537340
OMIM: 312870 300209
Reference
  Authors
DeBaun MR, Ess J, Saunders S
  Title
Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.
  Journal
Mol Genet Metab 72:279-86 (2001)
DOI:10.1006/mgme.2001.3150
Reference
PMID:8589713 (GPC3)
  Authors
Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D
  Title
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
  Journal
Nat Genet 12:241-7 (1996)
DOI:10.1038/ng0396-241
Reference
PMID:16783569 (OFD1)
  Authors
Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH
  Title
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
  Journal
Hum Genet 120:171-8 (2006)
DOI:10.1007/s00439-006-0210-5
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