| H00711 | |
| H番号 | H00711 |
| 名称 | ラッセル・シルバー症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (SRS3) IGF2 [HSA:3481] [KO:K13769] (SRS4) PLAG1 [HSA:5324] [KO:K19484] (SRS5) HMGA2 [HSA:8091] [KO:K09283] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: D056730 OMIM: 180860 618905 616489 618907 618908 |
| 文献 | PMID:19407494 著者 Eggermann T タイトル Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. 雑誌 Horm Res 71 Suppl 2:30-5 (2009) DOI:10.1159/000192433 PMID:20573229 著者 Eggermann T, Begemann M, Binder G, Spengler S タイトル Silver-Russell syndrome: genetic basis and molecular genetic testing. 雑誌 Orphanet J Rare Dis 5:19 (2010) DOI:10.1186/1750-1172-5-19 PMID:20803658 著者 Eggermann T タイトル Russell-Silver syndrome. 雑誌 Am J Med Genet C Semin Med Genet 154C:355-64 (2010) DOI:10.1002/ajmg.c.30274 PMID:21282187 (IGF2) 著者 Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A タイトル Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. 雑誌 Hum Mol Genet 20:1363-74 (2011) DOI:10.1093/hmg/ddr018 PMID:33291420 (PLAG1) 著者 Vado Y, Pereda A, Llano-Rivas I, Gorria-Redondo N, Diez I, Perez de Nanclares G タイトル Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion. 雑誌 Genes (Basel) 11:E1461 (2020) DOI:10.3390/genes11121461 PMID:25809938 (HMGA2) 著者 De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A タイトル A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. 雑誌 J Hum Genet 60:287-93 (2015) DOI:10.1038/jhg.2015.29 |