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 50 11 22 46 23 24 13 52 68 12 37
Russell-Silver Syndrome 22 46 23 24 68 25 66
Silver-Russell Dwarfism 46 24 52 68
 
Rss 24 68
Srs 24 68
Silver Russell Dwarfism 11

Characteristics:

Orphanet epidemiological data:

52
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:

62
silver-russell syndrome:
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 180860
Disease Ontology11 DOID:14681
ICD1028 Q87.1
NCIt43 C85068
SNOMED-CT60 15069006
Orphanet52 ORPHA813
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 D056730
UMLS via Orphanet67 C0175693
MedGen35 C0175693

Summaries for Silver-Russell Syndrome

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NIH Rare Diseases:46 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 choriocarcinoma and obesity, 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 are Endochondral Ossification and Development IGF-1 receptor signaling. Affiliated tissues include bone, testes and pituitary, and related mouse phenotype muscle.

UniProtKB/Swiss-Prot:68 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:24 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:50 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 102)
idRelated DiseaseScoreTop Affiliating Genes
1choriocarcinoma30.8CDKN1C, CSH1
2obesity29.3DLK1, IGF1, IGF2, IGFBP1, IGFBP3
3silver-russell syndrome due to 7p11.2p13 microduplication12.4
4chromosome 11p15.5-related russell-silver syndrome12.2
5chromosome 7-related russell-silver syndrome12.2
6silver-russell syndrome due to an imprinting defect of 11p1512.2
7silver-russell syndrome due to 11p15 microduplication12.2
8silver-russell syndrome due to maternal uniparental disomy of chromosome 1112.2
9silver-russell syndrome due to a point mutation12.2
10silver-russell syndrome due to maternal uniparental disomy of chromosome 712.2
11partington syndrome11.5
12robinow-sorauf syndrome11.3
13muscular dystrophy, rigid spine, 111.2
14spastic paraplegia 1711.2
15diencephalic syndrome11.2
16snyder-robinson syndrome11.1
17mental retardation, x-linked, snyder-robinson type10.9
18beckwith-wiedemann syndrome due to cdkn1c mutation10.9H19, IGF2
19beckwith-wiedemann syndrome due to 11p15 microdeletion10.9H19, IGF2
20vagina leiomyoma10.7IGF2, IGFBP3
21charcot-marie-tooth disease type 710.7GRB10, H19, IGF2
22breast abscess10.7GRB10, KCNQ1OT1
23hallermann-streiff syndrome10.7H19, IGF2, KCNQ1OT1
24ehlers-danlos syndrome, vascular-like type10.7H19, IGF2, KCNQ1OT1
25pilar sheath acanthoma10.6CSH1, IGFBP1
26necrotizing ulcerative gingivitis10.6IGF1, IGF2
27spinal muscular atrophy type 1 with congenital bone fractures10.6IGF1, IGFBP3
28sideroblastic anemia pyridoxine-responsive autosomal recessive10.6IGF2, IGFBP3
29seizures mental retardation hair dysplasia10.5IGF1, IGFBP3
30breast large cell neuroendocrine carcinoma10.5IGF1, IGFBP3
31hiv-110.5
32cetp-related hyperalphalipoproteinemia10.5IGF1, IGFBP3
33hallux varus and preaxial polysyndactyly10.5IGF1, IGF2
34corpus luteum cyst10.5CSH1, IGF1, IGFBP1
35iatrogenic botulism10.5DLK1, MEG3
36osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome10.5DLK1, MEG3
37multiple benign circumferential skin creases on limbs10.5DLK1, MEG3
38aortitis10.5CDKN1C, IGF2
39microcephaly-cleft palate syndrome10.5DLK1, MEG3
40growth hormone insensitivity, partial10.5IGF1, IGF2, IGFBP3
41diarrhea 3, secretory sodium, congenital, syndromic10.5IGF1, IGFBP3
42amelogenesis imperfecta, type iia510.5DLK1, MEG3
43otodental dysplasia10.4DLK1, MEG3
44rete ovarii cystadenofibroma10.4IGF1, IGFBP3
45beckwith-wiedemann syndrome10.4
46bone marrow cancer10.4IGF1, IGF2, IGFBP3
47central retinal vein occlusion10.4IGF1, IGFBP3
48nephronophthisis 1910.4GRB10, KCNQ1OT1, MEST, ZFP57
49albinism, oculocutaneous, type ia10.3CDKN1C, IGF1, IGFBP3
50influenza, severe10.3CDKN1C, H19, WT2

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:

 52 (show all 16)
  • abnormality of the urinary system
  • thin vermilion border
  • triangular face
  • blue sclerae
  • precocious puberty
  • intellectual disability, mild
  • intrauterine growth retardation
  • failure to thrive in infancy
  • abnormality of the cardiovascular system
  • hypoglycemia
  • downturned corners of mouth
  • delayed skeletal maturation
  • clinodactyly of the 5th finger
  • short stature
  • cachexia
  • asymmetric growth

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 hypospadias HP:0000047
17 abnormality of the ureter HP:0000069
18 delayed cranial suture closure HP:0000270
19 triangular face HP:0000325
20 micrognathia HP:0000347
21 blue sclerae HP:0000592
22 growth hormone deficiency HP:0000824
23 cafe-au-lait spot HP:0000957
24 syndactyly HP:0001159
25 global developmental delay HP:0001263
26 hepatocellular carcinoma HP:0001402
27 intrauterine growth retardation HP:0001511
28 small for gestational age HP:0001518
29 abnormality of the cardiovascular system HP:0001626
30 abnormality of the foot HP:0001760
31 frontal bossing HP:0002007
32 nephroblastoma HP:0002667
33 downturned corners of mouth HP:0002714
34 delayed skeletal maturation HP:0002750
35 fasting hypoglycemia HP:0003162
36 clinodactyly of the 5th finger HP:0004209
37 short middle phalanx of the 5th finger HP:0004220
38 short distal phalanx of the 5th finger HP:0004227
39 craniofacial disproportion HP:0005461
40 congenital posterior urethral valve HP:0010957
41 craniopharyngioma HP:0030062
42 testicular seminoma HP:0100617

Drugs & Therapeutics for Silver-Russell Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozole266120511-73-12187
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

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 Syndrome25 23 IGF2

Anatomical Context for Silver-Russell Syndrome

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MalaCards organs/tissues related to Silver-Russell Syndrome:

34
Bone, Testes, Pituitary, Placenta, Skin, Cerebellum, Heart

Animal Models for Silver-Russell Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Silver-Russell Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8DLK1, GRB10, IGF1, IGF2, IGFBP3, MEST

Publications for Silver-Russell Syndrome

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Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 224)
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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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:00169429.9IGF1, IGFBP3
2insulin-like growth factor ternary complexGO:00425679.6IGF1, 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:004356710.5IGFBP1, IGFBP3
2negative regulation of phosphorylationGO:004232610.5CDKN1C, GRB10
3positive regulation of glycogen biosynthetic processGO:004572510.4IGF1, IGF2
4positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.3IGF1, IGFBP3
5insulin-like growth factor receptor signaling pathwayGO:004800910.3GRB10, IGF1
6positive regulation of mitotic nuclear divisionGO:004584010.0IGF1, IGF2
7positive regulation of MAPK cascadeGO:00434109.8IGF1, IGF2, IGFBP3
8cellular protein metabolic processGO:00442679.6IGF1, IGF2, IGFBP1, IGFBP3
9regulation of gene expression by genetic imprintingGO:00063499.5CTCF, 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:003199510.4IGFBP1, IGFBP3
2insulin-like growth factor I bindingGO:003199410.4IGFBP1, IGFBP3
3insulin-like growth factor receptor bindingGO:000515910.2IGF1, IGF2
4insulin-like growth factor bindingGO:000552010.1IGFBP1, IGFBP3
5insulin receptor bindingGO:00051589.8GRB10, IGF1, IGF2

Sources for Silver-Russell Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet