KEGG DISEASE: Russell-Silver syndrome

KEGG

DISEASE: Russell-Silver syndrome

Entry

H00711                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00711  Russell-Silver syndrome

Gene

(SRS3) IGF2 [HSA:3481] [KO:K13769]
(SRS4) PLAG1 [HSA:5324] [KO:K19484]
(SRS5) HMGA2 [HSA:8091] [KO:K09283]

Other DBs

ICD-11:

MeSH:

OMIM:

180860 618905 616489 618907 618908

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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