MCID: SLV001
MIFTS: 54

Silver-Russell Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Silver-Russell Syndrome

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Aliases & Descriptions for Silver-Russell Syndrome:

Name: Silver-Russell Syndrome 51 11 23 47 24 25 53 69 12 38 13
Russell-Silver Syndrome 23 47 24 25 69 26 67
Silver-Russell Dwarfism 47 25 53 69
 
Srs 25 69
Rss 25 69
Silver Russell Dwarfism 11

Characteristics:

Orphanet epidemiological data:

53
silver-russell syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

HPO:

63
silver-russell syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM51 180860
Disease Ontology11 DOID:14681
ICD1029 Q87.1
NCIt44 C85068
SNOMED-CT61 15069006
Orphanet53 ORPHA813
MESH via Orphanet39 D056730
ICD10 via Orphanet30 Q87.1
UMLS via Orphanet68 C0175693
MedGen36 C0175693

Summaries for Silver-Russell Syndrome

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OMIM:51 Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth... (180860) more...

MalaCards based summary: Silver-Russell Syndrome, also known as russell-silver syndrome, is related to choriocarcinoma and obesity, and has symptoms including triangular face, blue sclerae and intrauterine growth retardation. An important gene associated with Silver-Russell Syndrome is RSS (Russell Silver Syndrome), and among its related pathways are EGFR Transactivation by Gastrin and Endochondral Ossification. Affiliated tissues include bone, testes and pituitary.

Genetics Home Reference:25 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 recurrent episodes of low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected men is about 151 centimeters (4 feet, 11 inches) and the average height for affected women is about 140 centimeters (4 feet, 7 inches).

NIH Rare Diseases:47 Russell-Silver syndrome (RSS) is a congenital disorder that causes 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) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner. Last updated: 3/3/2016

UniProtKB/Swiss-Prot:69 Silver-Russell syndrome: 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.

GeneReviews for NBK1324

Related Diseases for Silver-Russell Syndrome

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Diseases in the Silver-Russell Syndrome family:

Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 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 Suite gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1choriocarcinoma30.4CDKN1C, CSH1
2obesity28.7DLK1, IGF1, IGF2, IGFBP1, IGFBP3
3silver-russell syndrome due to 7p11.2p13 microduplication12.2
4chromosome 11p15.5-related russell-silver syndrome12.1
5chromosome 7-related russell-silver syndrome12.1
6silver-russell syndrome due to an imprinting defect of 11p1512.1
7silver-russell syndrome due to 11p15 microduplication12.1
8silver-russell syndrome due to maternal uniparental disomy of chromosome 1112.1
9silver-russell syndrome due to a point mutation12.1
10silver-russell syndrome due to maternal uniparental disomy of chromosome 712.1
11robinow-sorauf syndrome11.4
12partington syndrome11.4
13mental retardation, x-linked, snyder-robinson type11.1
14silver spastic paraplegia syndrome11.1
15diencephalic syndrome11.1
16spastic paraplegia 1711.1
17muscular dystrophy, rigid spine, 111.0
18dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.9
19selenon-related myopathy10.8
20beckwith-wiedemann syndrome due to cdkn1c mutation10.7H19, IGF2
21beckwith-wiedemann syndrome due to 11p15 microdeletion10.7H19, IGF2
22vagina leiomyoma10.5IGF2, IGFBP3
23influenza, severe10.5CDKN1C, H19
24charcot-marie-tooth disease type 710.5GRB10, H19, IGF2
25necrotizing ulcerative gingivitis10.5IGF1, IGF2
26pilar sheath acanthoma10.5CSH1, IGFBP1
27breast abscess10.5GRB10, KCNQ1OT1
28hiv-110.4
29hallux varus and preaxial polysyndactyly10.4IGF1, IGF2
30spinal muscular atrophy type 1 with congenital bone fractures10.4IGF1, IGFBP3
31seizures mental retardation hair dysplasia10.4IGF1, IGFBP3
32sideroblastic anemia pyridoxine-responsive autosomal recessive10.4IGF2, IGFBP3
33breast large cell neuroendocrine carcinoma10.4IGF1, IGFBP3
34hallermann-streiff syndrome10.4H19, IGF2, KCNQ1OT1
35ehlers-danlos syndrome, vascular-like type10.4H19, IGF2, KCNQ1OT1
36cetp-related hyperalphalipoproteinemia10.4IGF1, IGFBP3
37aortitis10.3CDKN1C, IGF2
38diarrhea 3, secretory sodium, congenital, syndromic10.3IGF1, IGFBP3
39corpus luteum cyst10.3CSH1, IGF1, IGFBP1
40rete ovarii cystadenofibroma10.3IGF1, IGFBP3
41beckwith-wiedemann syndrome10.3
42growth hormone insensitivity, partial10.3IGF1, IGF2, IGFBP3
43central retinal vein occlusion10.3IGF1, IGFBP3
44bone marrow cancer10.3IGF1, IGF2, IGFBP3
45multiple mitochondrial dysfunctions syndrome10.2IGF1, IGF2
46kartagener syndrome10.2IGF1, IGF2
47testicular pure germ cell tumor10.2CDKN1C, CSH1
48albinism, oculocutaneous, type ia10.2CDKN1C, IGF1, IGFBP3
49growth hormone deficiency10.1
50protein s deficiency10.1IGF1, IGF2, IGFBP1, IGFBP3

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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Symptoms by clinical synopsis from OMIM:

180860

Clinical features from OMIM:

180860

Human phenotypes related to Silver-Russell Syndrome:

 63 53 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 triangular face63 53 hallmark (90%) Very frequent (99-80%) HP:0000325
2 blue sclerae63 53 hallmark (90%) Very frequent (99-80%) HP:0000592
3 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
4 downturned corners of mouth63 53 hallmark (90%) Very frequent (99-80%) HP:0002714
5 clinodactyly of the 5th finger63 53 hallmark (90%) Very frequent (99-80%) HP:0004209
6 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
7 decreased body weight63 hallmark (90%) HP:0004325
8 thin vermilion border63 53 typical (50%) Frequent (79-30%) HP:0000233
9 hypoglycemia63 53 typical (50%) Frequent (79-30%) HP:0001943
10 delayed skeletal maturation63 53 typical (50%) Frequent (79-30%) HP:0002750
11 asymmetric growth63 53 typical (50%) Frequent (79-30%) HP:0100555
12 abnormality of the urinary system63 53 occasional (7.5%) Occasional (29-5%) HP:0000079
13 precocious puberty63 53 occasional (7.5%) Occasional (29-5%) HP:0000826
14 abnormality of the cardiovascular system63 53 occasional (7.5%) Occasional (29-5%) HP:0001626
15 cognitive impairment63 occasional (7.5%) HP:0100543
16 hypospadias63 HP:0000047
17 abnormality of the ureter63 HP:0000069
18 delayed cranial suture closure63 HP:0000270
19 micrognathia63 HP:0000347
20 growth hormone deficiency63 HP:0000824
21 cafe-au-lait spot63 HP:0000957
22 syndactyly63 HP:0001159
23 global developmental delay63 HP:0001263
24 hepatocellular carcinoma63 HP:0001402
25 small for gestational age63 HP:0001518
26 abnormality of the foot63 HP:0001760
27 frontal bossing63 HP:0002007
28 nephroblastoma63 HP:0002667
29 fasting hypoglycemia63 HP:0003162
30 short middle phalanx of the 5th finger63 HP:0004220
31 short distal phalanx of the 5th finger63 HP:0004227
32 craniofacial disproportion63 HP:0005461
33 congenital posterior urethral valve63 HP:0010957
34 craniopharyngioma63 HP:0030062
35 testicular seminoma63 HP:0100617
36 intellectual disability, mild53 Occasional (29-5%)
37 failure to thrive in infancy53 Frequent (79-30%)
38 cachexia53 Very frequent (99-80%)

Drugs & Therapeutics for Silver-Russell Syndrome

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Drugs for Silver-Russell Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozoleapproved, investigational272120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
2Hormones13979
3Hormones, Hormone Substitutes, and Hormone Antagonists12767
4Steroid Synthesis Inhibitors1718
5Hormone Antagonists12778
6Estrogens2470
7Antineoplastic Agents, Hormonal5407
8Aromatase Inhibitors807
9Estrogen Antagonists1315

Interventional clinical trials:

idNameStatusNCT IDPhase
1Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become ParentsCompletedNCT02859688
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
3Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell SyndromesActive, not recruitingNCT01842659
4Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi SyndromeActive, not recruitingNCT01520467

Search NIH Clinical Center for Silver-Russell Syndrome


Cochrane evidence based reviews: silver-russell syndrome

Genetic Tests for Silver-Russell Syndrome

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Genetic tests related to Silver-Russell Syndrome:

id Genetic test Affiliating Genes
1 Russell-Silver Syndrome26 24 IGF2

Anatomical Context for Silver-Russell Syndrome

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MalaCards organs/tissues related to Silver-Russell Syndrome:

35
Bone, Testes, Pituitary, Placenta, Skin, Cerebellum, Heart

Animal Models for Silver-Russell Syndrome or affiliated genes

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Publications for Silver-Russell Syndrome

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Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? (27007691)
2016
2
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. (26963625)
2016
3
Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome - a Chinese experience. (24945423)
2014
4
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. (24664587)
2014
5
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. (24051620)
2013
6
Clinical spectrum of Silver - Russell syndrome. (24124306)
2013
7
The degree of H19 hypomethylation in children with Silver-Russel syndrome (SRS) is not associated with the severity of phenotype and the clinical severity score (CSS). (24296634)
2013
8
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. (23885231)
2013
9
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. (23565409)
2012
10
First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients. (23429302)
2012
11
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7. (21752678)
2012
12
What is the evidence for causal epigenetic influences on the Silver-Russell syndrome phenotype? (22126241)
2011
13
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. (21278389)
2011
14
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. (20101688)
2010
15
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome. (20004753)
2010
16
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
17
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. (19364767)
2009
18
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations. (19632365)
2009
19
A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris. (18359747)
2008
20
Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome. (18661310)
2008
21
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. (18070127)
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
IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. (16940449)
2006
25
(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation? (16603426)
2006
26
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. (15915162)
2005
27
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. (16086014)
2005
28
Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome. (15050880)
2004
29
Genomic characterisation of C7orf10 in Silver-Russell syndrome patients. (12676917)
2003
30
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome. (12387515)
2002
31
Screening for mutations in the gene for phosphorylation kinase gamma1 in Silver-Russell syndrome patients. (12668171)
2002
32
Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. (11897833)
2002
33
IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome. (11359473)
2001
34
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. (11754049)
2001
35
No evidence for mosaicism in Silver-Russell syndrome. (11283207)
2001
36
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. (11748303)
2001
37
Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. (10691413)
2000
38
Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7. (10756351)
2000
39
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. (10874633)
1999
40
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. (10544228)
1999
41
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. (9733042)
1998
42
Genetics of Silver-Russell syndrome. (9730670)
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
Growth hormone treatment of short children born small for gestational age or with Silver-Russell syndrome: results from KIGS (Kabi International Growth Study), including the first report on final height. (9055904)
1996
46
Renal tubular acidosis in the Silver-Russell syndrome. (7625441)
1995
47
Cognitive abilities associated with the Silver-Russell syndrome. (7726606)
1994
48
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
49
Cleft hand in Silver-Russell syndrome. (3385298)
1988
50
Silver-Russell syndrome with unusual findings. (3797159)
1987

Variations for Silver-Russell Syndrome

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Clinvar genetic disease variations for Silver-Russell Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CDKN1CNM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu)SNVPathogenicrs318240750GRCh38Chr 11, 2884119: 2884119

Copy number variations for Silver-Russell Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
148344142378815923802256MicroduplicationICR2Silver-Russell syndrome
2483461112800000MicroduplicationKCNQ1OT1Silver-Russell syndrome
3483481112800000MicroduplicationsICRSilver-Russell syndrome

Expression for genes affiliated with Silver-Russell Syndrome

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

Pathways for genes affiliated with Silver-Russell Syndrome

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GO Terms for genes affiliated with Silver-Russell Syndrome

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Cellular components related to Silver-Russell Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:00169429.7IGF1, IGFBP3
2insulin-like growth factor ternary complexGO:00425679.4IGF1, IGFBP3

Biological processes related to Silver-Russell Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of insulin-like growth factor receptor signaling pathwayGO:004356710.4IGFBP1, IGFBP3
2negative regulation of phosphorylationGO:004232610.4CDKN1C, GRB10
3positive regulation of glycogen biosynthetic processGO:004572510.3IGF1, IGF2
4insulin-like growth factor receptor signaling pathwayGO:004800910.1GRB10, IGF1
5positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.1IGF1, IGFBP3
6positive regulation of mitotic nuclear divisionGO:00458409.9IGF1, IGF2
7positive regulation of MAPK cascadeGO:00434109.5IGF1, IGF2, IGFBP3
8cellular protein metabolic processGO:00442679.3IGF1, IGF2, IGFBP1, IGFBP3
9regulation of gene expression by genetic imprintingGO:00063499.3CTCF, IGF2, ZFP57

Molecular functions related to Silver-Russell Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor II bindingGO:003199510.2IGFBP1, IGFBP3
2insulin-like growth factor I bindingGO:003199410.2IGFBP1, IGFBP3
3insulin-like growth factor receptor bindingGO:000515910.1IGF1, IGF2
4insulin-like growth factor bindingGO:000552010.0IGFBP1, IGFBP3
5insulin receptor bindingGO:00051589.6GRB10, IGF1, IGF2

Sources for Silver-Russell Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet