Details of Disease

General Information of Disease (ID: DIS9H9TY)

Disease Name Simpson-Golabi-Behmel syndrome
Synonyms Sgbs; dysplasia gigantism syndrome, X-linked; Sara Angers syndrome; SGB syndrome; DGSX; SDYS; Golabi-Rosen syndrome; Simpson-Golabi-Behmel syndrome; SGBS; X-linked dysplasia gigantism syndrome
Definition
Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISHK54G: Overgrowth syndrome
DIS9H9TY: Simpson-Golabi-Behmel syndrome
Disease Identifiers
MONDO ID
MONDO_0010731
UMLS CUI
C4317043
MedGen ID
1387611
Orphanet ID
373
SNOMED CT ID
439143004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GPC3 TTJTSX4 Strong Genetic Variation [1]
GPC3 TTJTSX4 Definitive X-linked [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GPC1 OTQKRSSV Strong Genetic Variation [3]
GPC4 OTUJ14DW Strong Genetic Variation [4]
GPC5 OT8NR7GC Strong Biomarker [5]
GPC6 OTNJBESF Strong Genetic Variation [6]
GPC3 OTWS8WSW Definitive X-linked [2]
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References

1 Immunotherapeutic Targeting of GPC3 in Pediatric Solid Embryonal Tumors.Front Oncol. 2019 Feb 26;9:108. doi: 10.3389/fonc.2019.00108. eCollection 2019.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 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.
4 Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4.Ann Hum Genet. 2020 Mar;84(2):201-204. doi: 10.1111/ahg.12357. Epub 2019 Oct 3.
5 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.
6 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.