Details of Disease

General Information of Disease (ID: DISYV73N)

• Disease Name: Simpson-Golabi-Behmel syndrome type 1
• Synonyms: Sgbs; dysplasia gigantism syndrome, X-linked; Simpson-Golabi-Behmel syndrome, type 1; Golabi-Rosen syndrome; Simpson-Golabi-Behmel syndrome type 1; bulldog syndrome; SGBS1; DGSX Golabi-Rosen syndrome; Simpson-Golabi-Behmel syndrome caused by mutation in GPC3; GPC3 Simpson-Golabi-Behmel syndrome; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive
• Definition: Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.
• Disease Hierarchy:
  DIS9H9TY: Simpson-Golabi-Behmel syndrome
  DISYKSRF: Genetic disease
  DISYV73N: Simpson-Golabi-Behmel syndrome type 1
• Disease Identifiers:
  MONDO ID: MONDO_0020602
  MESH ID: C537340
  UMLS CUI: C0796154
  OMIM ID: 312870
  MedGen ID: 162917

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GPC3	TTJTSX4	Definitive	X-linked	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPRT1	DEVXTP5	Strong	Biomarker	[2]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COLGALT1	OTVG0P58	Limited	Altered Expression	[3]
CAND2	OTOMOG3R	moderate	Altered Expression	[4]
GPC1	OTQKRSSV	Strong	Genetic Variation	[5]
GPC5	OT8NR7GC	Strong	Biomarker	[6]
GPC6	OTNJBESF	Strong	Genetic Variation	[7]
MFAP5	OT46VXSG	Strong	Altered Expression	[8]
RETSAT	OTC3AOPX	Strong	Biomarker	[9]
GPC3	OTWS8WSW	Definitive	X-linked	[1]

References

• [1] Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet. 1996 Mar;12(3):241-7. doi: 10.1038/ng0396-241.
• [2] Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.Am J Med Genet. 1994 May 1;50(4):388-90. doi: 10.1002/ajmg.1320500423.
• [3] Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.Biosci Rep. 2017 May 17;37(3):BSR20170105. doi: 10.1042/BSR20170105. Print 2017 Jun 30.
• [4] Detecting epistasis within chromatin regulatory circuitry reveals CAND2 as a novel susceptibility gene for obesity.Int J Obes (Lond). 2019 Mar;43(3):450-456. doi: 10.1038/s41366-018-0069-2. Epub 2018 May 1.
• [5] Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet. 2000 May 22;9(9):1321-8. doi: 10.1093/hmg/9.9.1321.
• [6] An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.Eur J Med Genet. 2010 Jan-Feb;53(1):45-9. doi: 10.1016/j.ejmg.2009.11.003. Epub 2009 Nov 23.
• [7] Boning up on glypicans--opportunities for new insights into bone biology.Cell Biochem Funct. 2013 Mar;31(2):91-114. doi: 10.1002/cbf.2939. Epub 2013 Jan 7.
• [8] MFAP5 is related to obesity-associated adipose tissue and extracellular matrix remodeling and inflammation.Obesity (Silver Spring). 2015 Jul;23(7):1371-8. doi: 10.1002/oby.21103. Epub 2015 Jun 5.
• [9] Retinol saturase promotes adipogenesis and is downregulated in obesity.Proc Natl Acad Sci U S A. 2009 Jan 27;106(4):1105-10. doi: 10.1073/pnas.0812065106. Epub 2009 Jan 12.