RSS
MCID: SLV001
MIFTS: 59

Silver-Russell Syndrome (RSS) malady

Fetal, Cancer categories

Summaries for Silver-Russell Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Russell-silver syndrome is a condition present at birth that involves poor growth, low birth weight, short height, and size differences (asymmetry) of parts of the body. other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) as a result of feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly; digestive system abnormalities; delayed development; and/or learning disabilities. the genetic causes of this syndrome are complex and relate to certain genes that control growth. most cases are not inherited from an affected parent, but occur sporadically (i.e., by chance). in some cases, it is inherited in an autosomal dominant or autosomal recessive manner. last updated: 2/11/2014

MalaCards: Silver-Russell Syndrome, also known as russell-silver syndrome, is related to beckwith-wiedemann syndrome and growth hormone deficiency, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, failure to thrive/difficulties for feeding in infancy/growth delay and precocious puberty. An important gene associated with Silver-Russell Syndrome is RSS (Russell Silver syndrome), and among its related pathways is Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The compounds nap-2 and rsai have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and placenta, and related mouse phenotype muscle.

Genetics Home Reference:21 Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected males is about 151 centimeters (4 feet, 11 inches) and the average height for affected females is about 140 centimeters (4 feet, 7 inches).

Description from OMIM:47 180860,312780

GeneReviews summary for rss

Aliases & Classifications for Silver-Russell Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 20GeneTests, 22GTR, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer


Characteristics (Orphanet epidemiological data):

49
silver-russell syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

silver-russell syndrome 8 9 19 43 21 47 10 49
russell-silver syndrome 19 43 20 22 21 61
silver-russell dwarfism 43 21 49
silver russell dwarfism 8
srs 21
rss 21


External Ids:

Disease Ontology8 DOID:14681
MeSH35 D056730
NCIt40 C85068
SNOMED-CT57 15069006
MESH via Orphanet36 D056730
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet58 15069006
UMLS via Orphanet62 C0175693

Related Diseases for Silver-Russell Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Silver-Russell Syndrome family:

silver-russell syndrome due to 7p11.2p13 microduplication silver-russell syndrome due to imprinting defect of 11p15
silver-russell syndrome due to 11p15 microduplication silver-russell syndrome due to maternal uniparental disomy of chromosome 11
silver-russell syndrome due to maternal uniparental disomy of chromosome 7

Diseases related to Silver-Russell Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome30.9H19, CDKN1C, RSS, ZFP57, IGF2, GRB10
2growth hormone deficiency30.7IGF2, IGFBP1
3hemihypertrophy30.3H19, CDKN1C, IGF2
4wilms tumor30.2CDKN1C, H19, WT2, IGF2
5wilms tumor 230.0RSS, H19
6adrenocortical carcinoma29.8CDKN1C, IGF2, H19
7n syndrome10.7
8silver-russell syndrome due to 7p11.2p13 microduplication10.6
9adult syndrome10.5
10micro syndrome10.5
11char syndrome10.5
12short syndrome10.5
13partington syndrome10.4
14bod syndrome10.4
15chromosome 11p15.5-related russell-silver syndrome10.4
16chromosome 7-related russell-silver syndrome10.4
17silver-russell syndrome due to imprinting defect of 11p1510.4
18silver-russell syndrome due to 11p15 microduplication10.4
19silver-russell syndrome due to maternal uniparental disomy of chromosome 1110.4
20silver-russell syndrome due to maternal uniparental disomy of chromosome 710.4
21atherosclerosis10.3
22acromegaly10.3
23cystic fibrosis10.2
24cryptorchidism10.2
25juvenile pilocytic astrocytoma10.2
26lichen nitidus10.2
27hirschsprung's disease10.2
28renal tubular acidosis10.2
29juvenile astrocytoma10.2
30astrocytoma10.2
31myoclonus-dystonia10.2
32spastic paraplegia 1710.2
33young syndrome10.2
34mayer-rokitansky-kuster-hauser syndrome10.2
35chromosome 11p duplication10.2
36chromosome 2p duplication10.2
37kuster syndrome10.2
38horseshoe kidney10.2
39pilocytic astrocytoma10.2
40kid syndrome10.2
41silvery hair syndrome10.2
42star syndrome10.2
43myoclonus10.2
44short stature10.2
4520p13 microdeletion syndrome10.2
46polyploidy10.2
47mesocardia10.2
4812q14 microdeletion syndrome10.2
49protein c deficiency10.1
50protein r deficiency10.1

Graphical network of the top 20 diseases related to Silver-Russell Syndrome:



Diseases related to silver-russell syndrome

Clinical Features for Silver-Russell Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

180860,312780

Clinical synopsis from OMIM:

180860

Symptoms:

49 (show all 16)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • precocious puberty
  • delayed bone age
  • short stature/dwarfism/nanism
  • structural anomalies of the cardio-circulatory system
  • hypoglycemia
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • intrauterine growth retardation
  • clinodactyly of fifth finger
  • downturned mouth
  • thin/retracted lips
  • structural anomalies of the kidney and the urinary tract
  • triangular face
  • blue sclerae

Drugs & Therapeutics for Silver-Russell Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Silver-Russell Syndrome

Drug clinical trials:

Search ClinicalTrials for Silver-Russell Syndrome

Search NIH Clinical Center for Silver-Russell Syndrome

Search CenterWatch for Silver-Russell Syndrome

Genetic Tests for Silver-Russell Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Silver-Russell Syndrome:

id Genetic test Affiliating Genes
1 Russell-silver Syndrome20 22 IGF2

Anatomical Context for Silver-Russell Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Silver-Russell Syndrome:

33
Kidney, Heart, Placenta, T cells, Pituitary

Animal Models for Silver-Russell Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Silver-Russell Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.8CDKN1C, IGF2, GRB10, MEST, SCYL1, H19

Publications for Silver-Russell Syndrome

Sources:
51PubMed
See all sources

Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 200)
idTitleAuthorsYear
1
Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome. (24075556)
2014
2
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. (24051620)
2013
3
Clinical spectrum of Silver - Russell syndrome. (24124306)
2013
4
Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. (23812911)
2013
5
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. (23803580)
2013
6
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features. (22211632)
2012
7
Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. (22170793)
2012
8
Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted Loci in silver-russell syndrome. (22942387)
2012
9
Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13). (21954990)
2012
10
17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability. (22903743)
2012
11
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. (21920939)
2012
12
Silver-Russell syndrome. (21396582)
2011
13
Ophthalmological findings in children and adolescents with Silver-Russell syndrome. (20805133)
2011
14
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. (20101688)
2010
15
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome. (20830799)
2010
16
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. (19876907)
2009
17
Epigenetic regulation of growth: lessons from Silver-Russell syndrome. (19293571)
2009
18
A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris. (18359747)
2008
19
The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. (18230663)
2008
20
Silver-russell syndrome: a case report. (18992170)
2008
21
Segmental maternal UPD(7q) in Silver-Russell syndrome. (18700897)
2008
22
Russell-Silver syndrome and nonverbal learning disability: a case study. (17523887)
2007
23
Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely. (17400796)
2007
24
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. (16532391)
2006
25
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. (15915162)
2005
26
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. (16086014)
2005
27
Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. (16007591)
2005
28
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome. (12387515)
2002
29
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. (12384779)
2002
30
Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. (11897833)
2002
31
The genetics of the Silver-Russell syndrome. (12424439)
2002
32
Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome. (12161597)
2002
33
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. (11754049)
2001
34
No evidence for mosaicism in Silver-Russell syndrome. (11283207)
2001
35
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. (11748303)
2001
36
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. (11112662)
2001
37
No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome. (11252004)
2001
38
Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. (10691413)
2000
39
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. (10544228)
1999
40
Maternal uniparental disomy 7 in Silver-Russell syndrome. (9032641)
1997
41
Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). (8891553)
1996
42
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. (7515753)
1994
43
Low levels of somatomedin C and short stature in the Silver-Russell syndrome]. (8078790)
1994
44
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13) (1633648)
1992
45
Severe Silver-Russell syndrome. (2746617)
1989
46
Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. (4040173)
1985
47
Silver-Russell syndrome. A family with symmetric and asymmetric siblings. (6894081)
1981
48
Phenotypic and genetic analysis of the silver-Russell syndrome. (639337)
1978
49
The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. (168551)
1975
50
Plasma growth hormone determination in the Silver-Russell syndrome. (5496331)
1970

Genetic Variations for Silver-Russell Syndrome

Expression for genes affiliated with Silver-Russell Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Silver-Russell Syndrome

Search GEO for disease gene expression data for Silver-Russell Syndrome.

Pathways for genes affiliated with Silver-Russell Syndrome

Sources:
54Reactome
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Pathways related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3IGFBP1, IGF2

Compounds for genes affiliated with Silver-Russell Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nap-24510.4IGF2, H19
2rsai4510.3IGFBP1, IGF2, H19
3kinetensin45 2411.3CPA5, CPA1
4apai4510.3H19, IGF2
5anastrozole45 1111.2IGFBP1, IGF2
6acth4510.1CDKN1C, IGFBP1, IGF2, H19
7pegvisomant45 1111.0IGFBP1, IGF2
8zinc45 2410.9IGF2, DNMT3L, CPA5, CPA1, H19

GO Terms for genes affiliated with Silver-Russell Syndrome

Sources:
16Gene Ontology
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Cellular components related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear heterochromatinGO:00572010.2ZFP57, DNMT3L
2COPI vesicle coatGO:0301269.8SCYL1, COPG2

Biological processes related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone acetylationGO:01657310.2CPA4, MBD3
2regulation of gene expression by genetic imprintingGO:00634910.2ZFP57, DNMT3L, IGF2
3negative regulation of phosphorylationGO:04232610.1GRB10, CDKN1C
4insulin receptor signaling pathwayGO:00828610.1IGFBP1, IGF2, GRB10
5retrograde vesicle-mediated transport, Golgi to ERGO:0068909.8SCYL1, COPG2

Molecular functions related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metallocarboxypeptidase activityGO:00418110.1CPA1, CPA4, CPA5

Products for genes affiliated with Silver-Russell Syndrome

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  • Proteins
  • Lysates
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Sources for Silver-Russell Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet