Silver-russell syndrome 1

Preferred Label : Silver-russell syndrome 1;

Symbol : SRS1;

CISMeF acronym : RSS; SRS; SRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Russell-silver syndrome; Silver-russell dwarfism; RSS;

Description : Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; 130650), an overgrowth syndrome (Bartholdi et al., 2009).;

Inheritance : Autosomal dominant (loss of paternal allele);

Molecular basis : Caused by epigenetic changes of DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1, 616186); Contiguous gene syndrome caused by deletion of paternal allele on chromosome 7;

Neoplasia : Craniopharyngioma; Testicular seminoma; Wilms tumor; Hepatocellular carcinoma;

Prefixed ID : #180860;

Details

Origin ID

180860;

UMLS CUI

C5393125;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- GRB10 wt Allele [NCIt concept]
- PITX2 wt Allele [NCIt concept]
- RSS [MeSH concept]
- Really Simple Syndication [NCIt concept]
- Resistant Starch [NCIt concept]
- Rigid Spine Muscular Dystrophy 1 [NCIt concept]
- SCTR wt Allele [NCIt concept]
- SR-AT [MeSH Supplementary Concept]
- Senior [NCIt concept]
- Serbia [NCIt concept]
- Silver-Russell syndrome due to 11p15 microduplication [ORDO Disease]
- Silver-Russell syndrome due to 7p11.2p13 microduplication [ORDO Disease]
- Silver-Russell syndrome due to an imprinting defect of 11p15 [ORDO Disease]
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 [ORDO Disease]
- Somatostatin Receptor Scintigraphy [NCIt concept]
- Strontium [NCIt concept]
- Suriname [NCIt concept]
- Sustained Release Dosage Form [NCIt concept]
- rigid spine muscular dystrophy 1 [DO Concept]
- selenoprotein N [ORDO Gene]
- syndromic X-linked intellectual disability Snyder type [DO Concept]
- webcast [MeSH publication type]
Currated CISMeF NLP mapping
- Russell-Silver Syndrome [NCIt concept]
- Russell-Silver dwarfism [ACR pathology]
- Silver Russell syndrome [Disease (Nov.)]
- Silver-Russell syndrome [PASCAL descriptor]
- Silver-Russell syndrome [DO Concept]
- Silver-Russell syndrome [ICD-11 More detail]
- Silver-Russell syndrome [MedDRA Preferred Term]
- Silver-Russell syndrome [MeSH Descriptor]
- Silver-Russell syndrome [MeSH concept]
- Silver-Russell syndrome [ORDO Disease]
- russell-silver syndrome [SNOMED Notion]
DO Cross reference
- Silver-Russell syndrome [DO Concept]
Genes related to phenotype
- H19/igf2-imprinting control region [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Abnormality of the ureter [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Cafe-au-lait spot [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital posterior urethral valve [HPO term]
- Craniofacial disproportion [HPO term]
- Craniopharyngioma [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed skeletal maturation [HPO term]
- Downturned corners of mouth [HPO term]
- Fasting hypoglycemia [HPO term]
- Fifth digit middle or distal phalangeal hypoplasia [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hypospadias [HPO term]
- Intrauterine growth retardation [HPO term]
- Isolated cases [HPO term]
- Micrognathia [HPO term]
- Nephroblastoma [HPO term]
- Short distal phalanx of the 5th finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Small for gestational age [HPO term]
- Sporadic [HPO term]
- Syndactyly [HPO term]
- Testicular seminoma [HPO term]
- Triangular face [HPO term]
- Urethral valve [HPO term]
- small, triangular facies [HPO term]
Not associated HPO term(s)
- Abnormality of skull size [HPO term]
ORDO concept(s)
- Silver-Russell syndrome [ORDO Disease]
See also inter- (CISMeF)
- Russell Silver syndrome [HGNC gene]
- symbol withdrawn SRS [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Russell-Silver Syndrome [NCIt concept]
- Russell-Silver dwarfism [ACR pathology]
- Russell-Silver syndrome (disorder) [SNOMED CT concept]
- Silver Russell syndrome [Disease (Nov.)]
- Silver-Russell syndrome [MedDRA Preferred Term]
- Silver-Russell syndrome [ORDO Disease]
- Silver-Russell syndrome [MeSH Descriptor]
- Silver-Russell syndrome [MeSH concept]
- Silver-Russell syndrome [DO Concept]
- Silver-Russell syndrome [PASCAL descriptor]
- Silver-Russell syndrome [ICD-11 More detail]
- russell-silver syndrome [SNOMED Notion]

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