RSS
MCID: SLV001
MIFTS: 64

Silver-Russell Syndrome (RSS) malady

Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases categories
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Summaries for Silver-Russell Syndrome

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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, precocious puberty 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 are Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Endochondral Ossification. The compounds nap-2 and apai have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and kidney, and related mouse phenotypes are embryogenesis and mortality/aging.

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

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
silver-russell dwarfism 43 21 49
silver russell dwarfism 8
rss 21
srs 21


External Ids:

Disease Ontology8 DOID:14681
NCIt40 C85068
MeSH35 D056730
SNOMED-CT58 15069006
MESH via Orphanet36 D056730
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet59 15069006
UMLS via Orphanet63 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 a Point Mutation 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 138)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome30.8CDKN1C, GRB10, H19, ZFP57, IGF2
2growth hormone deficiency30.7IGF2, IGFBP1
3acromegaly30.4IGF2, IGFBP1
4hemihypertrophy30.4H19, IGF2, CDKN1C
5adrenocortical carcinoma29.9CDKN1C, H19, IGF2
6adenoma29.7CDKN1C, IGF2, H19, IGFBP1
7osteosarcoma29.7IGFBP1, IGF2, H19
8lung cancer29.7IGF2, IGFBP1, H19, CDKN1C
9silver-russell syndrome due to 7p11.2p13 microduplication10.6
10partington syndrome10.4
11chromosome 11p15.5-related russell-silver syndrome10.4
12chromosome 7-related russell-silver syndrome10.4
13silver-russell syndrome due to imprinting defect of 11p1510.4
14silver-russell syndrome due to 11p15 microduplication10.4
15silver-russell syndrome due to maternal uniparental disomy of chromosome 1110.4
16silver-russell syndrome due to a point mutation10.4
17silver-russell syndrome due to maternal uniparental disomy of chromosome 710.4
18hepatitis10.3
19atherosclerosis10.3
20hypertension10.3
21hiv-110.2
22endotheliitis10.2
23cystic fibrosis10.2
24juvenile pilocytic astrocytoma10.2
25lichen nitidus10.2
26hirschsprung's disease10.2
27cryptorchidism10.2
28renal tubular acidosis10.2
29down syndrome10.2
30astrocytoma10.2
31craniopharyngioma10.2
32dilated cardiomyopathy10.2
33dystonia10.2
34hypopituitarism10.2
35intellectual disability10.2
36learning disability10.2
373-m syndrome10.2
38myoclonus-dystonia10.2
39horseshoe kidney10.2
40mayer-rokitansky-kuster-hauser syndrome10.2
41mosaic trisomy 710.2
42pilocytic astrocytoma10.2
43ring chromosome 1510.2
44ring chromosome 710.2
45silvery hair syndrome10.2
46spastic paraplegia 1710.2
47uniparental disomy of chromosome 1110.2
48myoclonus10.2
49short stature10.2
50polyploidy10.2

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



Diseases related to silver-russell syndrome

Symptoms for Silver-Russell Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

180860

Clinical features from OMIM:

180860,312780

Symptoms:

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

Drugs & Therapeutics for Silver-Russell Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Silver-Russell Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Silver-Russell Syndrome:

33
Bone, Testes, Kidney, Pituitary, Heart, Placenta

Animal Models for Silver-Russell Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Silver-Russell Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4CDKN1C, GRB10, H19, MEST, IGF2
2MP:00107686.9CDKN1C, IGF2, MBD3, GRB10, H19, MEST
3MP:00053846.6H19, IGF2, IGFBP1, ZFP57, MEST, GRB10

Publications for Silver-Russell Syndrome

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52PubMed
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Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. (24051620)
2013
2
Clinical spectrum of Silver - Russell syndrome. (24124306)
2013
3
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
4
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. (23565409)
2012
5
Mosaic upd(7)mat in a patient with Silver-Russell syndrome. (22246578)
2012
6
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features. (22211632)
2012
7
First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients. (23429302)
2012
8
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7. (21752678)
2012
9
What is the evidence for causal epigenetic influences on the Silver-Russell syndrome phenotype? (22126241)
2011
10
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. (21278389)
2011
11
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. (20101688)
2010
12
IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome. (21234390)
2010
13
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome. (20004753)
2010
14
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
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 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
Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. (18655849)
2008
20
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. (18709478)
2008
21
Are H19 variants associated with Silver-Russell syndrome? (19209620)
2008
22
Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome. (18661310)
2008
23
Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients. (17056291)
2007
24
Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome. (17551927)
2007
25
Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. (17450433)
2007
26
IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. (16940449)
2006
27
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. (16532391)
2006
28
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. (15915162)
2005
29
Is maternal duplication of 11p15 associated with Silver-Russell syndrome? (15863658)
2005
30
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. (16086014)
2005
31
Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome. (15050880)
2004
32
Genomic characterisation of C7orf10 in Silver-Russell syndrome patients. (12676917)
2003
33
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome. (12387515)
2002
34
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. (12384779)
2002
35
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
36
IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome. (11359473)
2001
37
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. (11754049)
2001
38
Silver-Russell syndrome associated to Mayer-Rokitansky-Kuster-Hauser syndrome, diabetes and hirsutism. (11561746)
2001
39
Distraction osteogenesis in Silver Russell syndrome to expand the mandible. (10393577)
1999
40
Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. (10434128)
1999
41
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. (10987657)
1999
42
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. (9733042)
1998
43
Silver-Russell syndrome and exclusion of uniparental disomy. (9147881)
1996
44
Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). (8891553)
1996
45
Renal tubular acidosis in the Silver-Russell syndrome. (7625441)
1995
46
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. (7515753)
1994
47
Auxology and response to growth hormone treatment of patients with intrauterine growth retardation or Silver-Russell syndrome: analysis of data from the Kabi Pharmacia International Growth Study. International Board of the Kabi Pharmacia International Growth Study. (8219482)
1993
48
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13) (1633648)
1992
49
Cleft hand in Silver-Russell syndrome. (3385298)
1988
50
The Silver-Russell syndrome. (888698)
1977

Variations for Silver-Russell Syndrome

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Expression for genes affiliated with Silver-Russell Syndrome

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2BioGPS, 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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50PathCards, 55Reactome, 38NCBI BioSystems Database
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Pathways related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6IGFBP1, IGF2
29.5CDKN1C, IGF2

Compounds for genes affiliated with Silver-Russell Syndrome

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45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1nap-24510.1H19, IGF2
2apai4510.1IGF2, H19
3pegvisomant45 1110.9IGF2, IGFBP1
4anastrozole45 51 1111.8IGF2, IGFBP1
5levonorgestrel45 61 29 1112.8IGF2, IGFBP1
6dehydroepiandrosterone sulfate459.7IGF2, IGFBP1
7progestins459.6IGFBP1, IGF2
8c-peptide459.6IGF2, IGFBP1
9rsai459.6H19, IGFBP1, IGF2
102-deoxyglucose45 1110.5IGF2, IGFBP1
11ribonucleic acid459.5IGF2, IGFBP1, H19
125-aza-2deoxycytidine459.5H19, IGF2, CDKN1C
13octreotide45 61 29 1112.3IGFBP1, IGF2
14acth459.0IGF2, IGFBP1, H19, CDKN1C

GO Terms for genes affiliated with Silver-Russell Syndrome

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16Gene Ontology
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Biological processes related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of gene expression by genetic imprintingGO:0063499.6ZFP57, IGF2
2negative regulation of phosphorylationGO:0423269.4CDKN1C, GRB10
3insulin receptor signaling pathwayGO:0082869.2GRB10, IGFBP1, IGF2
4histone acetylationGO:0165738.8MBD3, CPA4

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

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:0051589.7GRB10, IGF2

Products for genes affiliated with Silver-Russell Syndrome

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Sources for Silver-Russell Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet