MCID: SLV001
MIFTS: 50

Silver-Russell Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Silver-Russell Syndrome

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Aliases & Descriptions for Silver-Russell Syndrome:

Name: Silver-Russell Syndrome 49 10 11 21 45 22 23 12 51 67 36
Russell-Silver Syndrome 21 45 22 23 67 24 65
Silver-Russell Dwarfism 45 23 51 67
 
Rss 23 67
Srs 23 67
Silver Russell Dwarfism 10

Characteristics:

Orphanet epidemiological data:

51
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:

61
silver-russell syndrome:
Inheritance: sporadic


Classifications:



External Ids:

OMIM49 180860
Disease Ontology10 DOID:14681
ICD1027 Q87.1
NCIt42 C85068
SNOMED-CT59 15069006
Orphanet51 813
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 D056730
UMLS via Orphanet66 C0175693
MedGen34 C0175693
UMLS65 C0175693

Summaries for Silver-Russell Syndrome

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NIH Rare Diseases:45 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

MalaCards based summary: Silver-Russell Syndrome, also known as russell-silver syndrome, is related to silver-russell syndrome due to maternal uniparental disomy of chromosome 11 and silver-russell syndrome due to 7p11.2p13 microduplication, and has symptoms including triangular face, blue sclerae and intrauterine growth retardation. An important gene associated with Silver-Russell Syndrome is CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C), and among its related pathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include breast, bone and heart.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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).

OMIM:49 Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth... (180860) more...

GeneReviews summary 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 64)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome due to maternal uniparental disomy of chromosome 1134.5H19, IGF2
2silver-russell syndrome due to 7p11.2p13 microduplication12.4
3chromosome 11p15.5-related russell-silver syndrome12.2
4chromosome 7-related russell-silver syndrome12.2
5silver-russell syndrome due to an imprinting defect of 11p1512.2
6silver-russell syndrome due to 11p15 microduplication12.2
7silver-russell syndrome due to a point mutation12.2
8silver-russell syndrome due to maternal uniparental disomy of chromosome 712.2
9partington syndrome11.4
10robinow-sorauf syndrome11.3
11muscular dystrophy, rigid spine, 111.2
12silver spastic paraplegia syndrome11.2
13diencephalic syndrome11.2
14spastic paraplegia 1711.2
15snyder-robinson syndrome11.1
16mental retardation, x-linked, snyder-robinson type10.9
17beckwith-wiedemann syndrome due to cdkn1c mutation10.7H19, IGF2
18ehlers-danlos/osteogenesis imperfecta syndrome10.7H19, IGF2
19charcot-marie-tooth disease type 510.6GRB10, H19
20hernández-aguirre negrete syndrome10.6H19, H19-ICR, IGF2
21mesenchymoma10.6HMGA2, IGF2
22epithelioid trophoblastic tumor10.6CDKN1C, CSH1
23hiv-110.5
24mastoiditis10.5CDKN1C, H19, IGF2
25familial cold autoinflammatory syndrome 210.5CDKN1C, H19
26epithelial predominant wilms' tumor10.4CDKN1C, IGF2
27perlman syndrome10.4CDKN1C, IGF2
28spinal cord neuroblastoma10.4CDKN1C, H19, IGF2
29beckwith-wiedemann syndrome10.4
30testicular germ cell tumor non-seminomatous10.3CDKN1C, CSH1
31hyperbiliverdinemia10.3CDKN1C, H19, IGF2
32growth hormone deficiency10.3
33limb-mammary syndrome10.2GRB10, IGF2
34nephronophthisis 1910.1GRB10, UROD, ZFP57
35hepatitis10.1
36influenza, severe10.1CDKN1C, H19, WT2
37myotonic dystrophy 110.1
38cystic fibrosis10.0
39temple syndrome10.0
40insulin-like growth factor i10.0
41cryptorchidism10.0
42atherosclerosis10.0
43dilated cardiomyopathy10.0
44renal tubular acidosis10.0
45down syndrome10.0
46astrocytoma10.0
47choriocarcinoma10.0
48craniopharyngioma10.0
49pilocytic astrocytoma10.0
50dystonia10.0

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

Symptoms:

 51 (show all 16)
  • triangular face
  • 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
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • structural anomalies of the cardio-circulatory system
  • structural anomalies of the kidney and the urinary tract
  • precocious puberty
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Silver-Russell Syndrome:

(show all 42)
id Description Frequency HPO Source Accession
1 triangular face hallmark (90%) HP:0000325
2 blue sclerae hallmark (90%) HP:0000592
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 downturned corners of mouth hallmark (90%) HP:0002714
5 clinodactyly of the 5th finger hallmark (90%) HP:0004209
6 short stature hallmark (90%) HP:0004322
7 decreased body weight hallmark (90%) HP:0004325
8 thin vermilion border typical (50%) HP:0000233
9 hypoglycemia typical (50%) HP:0001943
10 delayed skeletal maturation typical (50%) HP:0002750
11 asymmetric growth typical (50%) HP:0100555
12 abnormality of the urinary system occasional (7.5%) HP:0000079
13 precocious puberty occasional (7.5%) HP:0000826
14 abnormality of the cardiovascular system occasional (7.5%) HP:0001626
15 cognitive impairment occasional (7.5%) HP:0100543
16 testicular seminoma HP:0100617
17 craniopharyngioma HP:0030062
18 congenital posterior urethral valve HP:0010957
19 craniofacial disproportion HP:0005461
20 short distal phalanx of the 5th finger HP:0004227
21 short middle phalanx of the 5th finger HP:0004220
22 clinodactyly of the 5th finger HP:0004209
23 fasting hypoglycemia HP:0003162
24 delayed skeletal maturation HP:0002750
25 downturned corners of mouth HP:0002714
26 nephroblastoma (wilms tumor) HP:0002667
27 frontal bossing HP:0002007
28 abnormality of the foot HP:0001760
29 abnormality of the cardiovascular system HP:0001626
30 small for gestational age HP:0001518
31 intrauterine growth retardation HP:0001511
32 hepatocellular carcinoma HP:0001402
33 global developmental delay HP:0001263
34 syndactyly HP:0001159
35 cafe-au-lait spot HP:0000957
36 growth hormone deficiency HP:0000824
37 blue sclerae HP:0000592
38 micrognathia HP:0000347
39 triangular face HP:0000325
40 delayed cranial suture closure HP:0000270
41 abnormality of the ureter HP:0000069
42 hypospadias HP:0000047

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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozoleapproved, investigational262120511-73-12187
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
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
2Hormones11748
3Hormones, Hormone Substitutes, and Hormone Antagonists9988
4Hormone Antagonists10002
5Estrogen Antagonists1155
6Antineoplastic Agents, Hormonal4256
7Aromatase Inhibitors721
8Estrogens2144

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell SyndromesRecruitingNCT01842659
2Aromatase 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 Syndrome22 IGF2

Anatomical Context for Silver-Russell Syndrome

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MalaCards organs/tissues related to Silver-Russell Syndrome:

33
Breast, Bone, Heart, Kidney, Lung, Endothelial, Prostate

Animal Models for Silver-Russell Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Silver-Russell Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Silver-Russell Syndrome

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Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. (26663145)
2016
2
Germline correction of an epimutation related to Silver-Russell syndrome. (25736213)
2015
3
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome. (26505556)
2015
4
Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome - a Chinese experience. (24945423)
2014
5
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome. (24550760)
2014
6
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. (24664587)
2014
7
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. (24051620)
2013
8
Clinical spectrum of Silver - Russell syndrome. (24124306)
2013
9
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
10
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
11
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. (23565409)
2012
12
Mosaic upd(7)mat in a patient with Silver-Russell syndrome. (22246578)
2012
13
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features. (22211632)
2012
14
First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients. (23429302)
2012
15
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7. (21752678)
2012
16
What is the evidence for causal epigenetic influences on the Silver-Russell syndrome phenotype? (22126241)
2011
17
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. (21278389)
2011
18
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. (20101688)
2010
19
IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome. (21234390)
2010
20
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome. (20004753)
2010
21
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
22
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. (19364767)
2009
23
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations. (19632365)
2009
24
Epigenetic regulation of growth: lessons from Silver-Russell syndrome. (19293571)
2009
25
A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris. (18359747)
2008
26
Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. (18655849)
2008
27
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. (18709478)
2008
28
Are H19 variants associated with Silver-Russell syndrome? (19209620)
2008
29
Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome. (18661310)
2008
30
Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients. (17056291)
2007
31
Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome. (17551927)
2007
32
Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. (17450433)
2007
33
IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. (16940449)
2006
34
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. (16532391)
2006
35
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. (15915162)
2005
36
Is maternal duplication of 11p15 associated with Silver-Russell syndrome? (15863658)
2005
37
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. (16086014)
2005
38
Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome. (15050880)
2004
39
Genomic characterisation of C7orf10 in Silver-Russell syndrome patients. (12676917)
2003
40
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome. (12387515)
2002
41
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
42
IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome. (11359473)
2001
43
Distraction osteogenesis in Silver Russell syndrome to expand the mandible. (10393577)
1999
44
Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. (10434128)
1999
45
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. (9733042)
1998
46
Silver-Russell syndrome and exclusion of uniparental disomy. (9147881)
1996
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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Search GEO for disease gene expression data for Silver-Russell Syndrome.

Pathways for genes affiliated with Silver-Russell Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
110.0IGF2, IGFBP1

GO Terms for genes affiliated with Silver-Russell Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphorylationGO:004232610.1CDKN1C, GRB10

Sources for Silver-Russell Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet