RSS
MCID: SLV001
MIFTS: 63

Silver-Russell Syndrome (RSS) malady

Fetal diseases, Cancer diseases categories

Summaries for Silver-Russell Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 wilms tumor, and has symptoms including blue sclerae, triangular face and structural anomalies of the kidney and the urinary tract. 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 testes, bone and kidney, 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:46 180860,312780

GeneReviews summary for rss

Aliases & Classifications for Silver-Russell Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 46 10 48
russell-silver syndrome 19 42 20 22 21 60
silver-russell dwarfism 42 21 48
silver russell dwarfism 8
srs 21
rss 21


External Ids:

Disease Ontology8 DOID:14681
MeSH34 D056730
NCIt39 C85068
SNOMED-CT56 15069006
MESH via Orphanet35 D056730
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 15069006
UMLS via Orphanet61 C0175693

Related Diseases for Silver-Russell Syndrome

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17GeneCards, 18GeneDecks
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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 124)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome30.8H19, GRB10, IGF2, CDKN1C, ZFP57, RSS
2wilms tumor30.1CDKN1C, IGF2, WT2, H19
3breast cancer30.0H19, SCYL1, GRB7, IGF2, IGFBP1, CDKN1C
4wilms tumor 229.9H19, RSS
5adrenocortical carcinoma29.8CDKN1C, IGF2, H19
6silver-russell syndrome due to 7p11.2p13 microduplication10.6
7adult syndrome10.5
8partington syndrome10.3
9chromosome 11p15.5-related russell-silver syndrome10.3
10chromosome 7-related russell-silver syndrome10.3
11silver-russell syndrome due to imprinting defect of 11p1510.3
12silver-russell syndrome due to 11p15 microduplication10.3
13silver-russell syndrome due to maternal uniparental disomy of chromosome 1110.3
14silver-russell syndrome due to maternal uniparental disomy of chromosome 710.3
15hepatitis10.3
16atherosclerosis10.3
17hypertension10.3
18acromegaly10.2
19cystic fibrosis10.2
20cryptorchidism10.2
21juvenile pilocytic astrocytoma10.2
22lichen nitidus10.2
23hirschsprung's disease10.2
24down syndrome10.2
25renal tubular acidosis10.2
26juvenile astrocytoma10.2
27astrocytoma10.2
28congenital heart defect10.2
29craniopharyngioma10.2
30dilated cardiomyopathy10.2
31hypopituitarism10.2
32intellectual disability10.2
33learning disability10.2
343-m syndrome10.2
35myoclonus-dystonia10.2
36spastic paraplegia 1710.2
37silvery hair syndrome10.2
38myocardial infarction10.1
39coronary artery disease10.0
40hepatitis c10.0
41malignant hyperthermia10.0
42alcohol dependence10.0
43obesity10.0
44pancreatic cancer10.0
45pancreatitis10.0
46snyder-robinson syndrome10.0
47embryonal cancer10.0IGF2, H19
48hyperinsulinism10.0IGFBP1, IGF2
49hemihypertrophy10.0H19, IGF2, CDKN1C
50gestational trophoblastic tumor10.0CDKN1C, H19

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



Diseases related to silver-russell syndrome

Clinical Features for Silver-Russell Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

180860,312780

Clinical synopsis from OMIM:

180860

Symptoms:

48 (show all 16)
  • blue sclerae
  • triangular face
  • structural anomalies of the kidney and the urinary tract
  • thin/retracted lips
  • downturned mouth
  • clinodactyly of fifth finger
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Silver-Russell Syndrome

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5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Silver-Russell Syndrome:

32
Testes, Bone, Kidney, Placenta, Heart, Pituitary

Animal Models for Silver-Russell Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Silver-Russell Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.8CDKN1C, IGF2, GRB10, MEST, SCYL1, H19

Publications for Silver-Russell Syndrome

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50PubMed
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Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
2
Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion. (23745689)
2013
3
Silver: russell syndrome with cryptorchidism. (24349852)
2013
4
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. (23803580)
2013
5
Silver-Russell syndrome. (21396582)
2011
6
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? (21548126)
2011
7
Ophthalmological findings in children and adolescents with Silver-Russell syndrome. (20805133)
2011
8
IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome. (21234390)
2010
9
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome. (20004753)
2010
10
Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS. (20431273)
2010
11
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. (19752157)
2010
12
Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family. (20028213)
2010
13
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome. (20830799)
2010
14
Epigenetic signatures of Silver-Russell syndrome. (20305090)
2010
15
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. (19364767)
2009
16
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations. (19632365)
2009
17
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver- Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. (19066168)
2009
18
A case of Silver-Russell syndrome (SRS): multiple pituitary hormone deficiency, lack of H19 hypomethylation and favourable growth hormone (GH) treatment response. (19700863)
2009
19
Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome. (18661310)
2008
20
Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome. (18307383)
2008
21
Segmental maternal UPD(7q) in Silver-Russell syndrome. (18700897)
2008
22
Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome. (17551927)
2007
23
Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. (17450433)
2007
24
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. (16963484)
2007
25
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. (16236811)
2006
26
Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients. (15234339)
2004
27
Cognitive development in Silver-Russell syndrome: a sibling-controlled study. (15132265)
2004
28
Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients. (12746419)
2003
29
Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome. (12161597)
2002
30
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. (11313740)
2001
31
Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13. (11788094)
2001
32
Evidence against GRB10 as the gene responsible for Silver-Russell syndrome. (11527390)
2001
33
Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7. (10756351)
2000
34
Distraction osteogenesis in Silver Russell syndrome to expand the mandible. (10393577)
1999
35
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. (9733042)
1998
36
Genetics of Silver-Russell syndrome. (9730670)
1998
37
Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. (9781061)
1998
38
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. (9781054)
1998
39
Maternal uniparental disomy 7 in Silver-Russell syndrome. (9032641)
1997
40
Silver-Russell syndrome and exclusion of uniparental disomy. (9147881)
1996
41
Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. (8801103)
1995
42
Cognitive abilities associated with the Silver-Russell syndrome. (7726606)
1994
43
Autosomal recessive Silver-Russell syndrome. (1285272)
1992
44
Cleft hand in Silver-Russell syndrome. (3385298)
1988
45
Silver-Russell syndrome with unusual findings. (3797159)
1987
46
Silver-Russell syndrome and growth hormone deficiency. (7158327)
1982
47
Silver-Russell syndrome. A family with symmetric and asymmetric siblings. (6894081)
1981
48
Silver-Russell syndrome and craniopharyngioma. (7189211)
1980
49
Reproductive ability of an adult female with Silver-Russell syndrome. (856957)
1977
50
Dibutyryl cyclic 3':5'-adenosine monphosphate in hypopituitarism and Silver-Russell syndrome. (4365687)
1974

Genetic Variations for Silver-Russell Syndrome

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Expression for genes affiliated with Silver-Russell Syndrome

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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

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53Reactome
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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

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nap-24410.4IGF2, H19
2rsai4410.3IGFBP1, IGF2, H19
3kinetensin44 2411.3CPA5, CPA1
4apai4410.3H19, IGF2
5anastrozole44 1111.2IGFBP1, IGF2
6acth4410.1CDKN1C, IGFBP1, IGF2, H19
7pegvisomant44 1111.0IGFBP1, IGF2
8zinc44 2410.9IGF2, DNMT3L, CPA5, CPA1, H19

GO Terms for genes affiliated with Silver-Russell Syndrome

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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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Sources for Silver-Russell Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet