Simpson-Golabi-Behmel syndrome

Disease ID:1245
Name:Simpson-Golabi-Behmel syndrome
Associated with:1 target
Synonyms
Golabi-Rosen syndrome | SGBS1 | Simpson-Golabi-Behmel syndrome type 1 | X-linked dysplasia gigantism syndrome
Description
A rare X-linked recessive syndrome characterised by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumour risk.
Database Links
OMIM: 312870
Orphanet: ORPHA373

Targets

glypican 3
Role:  Defficient GPC3 expression caused by loss-of-function mutations is responsible for this syndrome.
References:  1

Ligands

No ligand related data available for Simpson-Golabi-Behmel syndrome

References

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1. Shi W, Filmus J. (2009) A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. Am. J. Med. Genet. A, 149A (3): 552-4. [PMID:19215053]