| H00711 | |
| H number | H00711 |
| Name | Russell-Silver syndrome; Silver-Russell syndrome |
| Description | Russell-Silver syndrome, also known as Silver-Russell syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. About 50% of the patients carry (epi)genetic alterations involving chromosomes 7 or 11. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients with unidentified molecular etiology suggests the involvement of other genes. |
| Category | Congenital malformation |
| Network | - |
| Gene | (SRS3) IGF2 [HSA:3481] [KO:K13769] (SRS4) PLAG1 [HSA:5324] [KO:K19484] (SRS5) HMGA2 [HSA:8091] [KO:K09283] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: D056730 OMIM: 180860 618905 616489 618907 618908 |
| Reference | PMID:19407494 AUTHORS Eggermann T TITLE Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. JOURNAL Horm Res 71 Suppl 2:30-5 (2009) DOI:10.1159/000192433 PMID:20573229 AUTHORS Eggermann T, Begemann M, Binder G, Spengler S TITLE Silver-Russell syndrome: genetic basis and molecular genetic testing. JOURNAL Orphanet J Rare Dis 5:19 (2010) DOI:10.1186/1750-1172-5-19 PMID:20803658 AUTHORS Eggermann T TITLE Russell-Silver syndrome. JOURNAL Am J Med Genet C Semin Med Genet 154C:355-64 (2010) DOI:10.1002/ajmg.c.30274 PMID:21282187 (IGF2) AUTHORS Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A TITLE Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. JOURNAL Hum Mol Genet 20:1363-74 (2011) DOI:10.1093/hmg/ddr018 PMID:33291420 (PLAG1) AUTHORS Vado Y, Pereda A, Llano-Rivas I, Gorria-Redondo N, Diez I, Perez de Nanclares G TITLE Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion. JOURNAL Genes (Basel) 11:E1461 (2020) DOI:10.3390/genes11121461 PMID:25809938 (HMGA2) AUTHORS De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A TITLE A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. JOURNAL J Hum Genet 60:287-93 (2015) DOI:10.1038/jhg.2015.29 |