"Silver-Russell Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
| Descriptor ID |
D056730
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| MeSH Number(s) |
C05.660.207.925 C16.131.077.855 C16.131.260.870 C16.320.180.870 C16.320.240.937
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| Concept/Terms |
Silver-Russell Syndrome- Silver-Russell Syndrome
- Silver Russell Syndrome
- Syndrome, Silver-Russell
- Russell-Silver Syndrome
- Russell Silver Syndrome
- Syndrome, Russell Silver
- Silver Russell Dwarfism
- Dwarfism, Silver Russell
- Silver-Russell Dwarfism
- Dwarfism, Silver-Russell
|
Below are MeSH descriptors whose meaning is more general than "Silver-Russell Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Silver-Russell Syndrome".
This graph shows the total number of publications written about "Silver-Russell Syndrome" by people in this website by year, and whether "Silver-Russell Syndrome" was a major or minor topic of these publications.
Below are the most recent publications written about "Silver-Russell Syndrome" by people in Profiles.
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022 03 16; 14(1):41.
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CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review. Cells. 2020 04 16; 9(4).
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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. J Med Genet. 2018 03; 55(3):205-213.
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Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017 02; 13(2):105-124.
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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2016 10; 24(10):1377-87.
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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. Eur J Hum Genet. 2016 06; 24(6):784-93.
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Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome. Am J Med Genet A. 2015 Dec; 167A(12):3229-33.
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Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat. 2013 Apr; 34(4):595-602.