SRS
MCID: SLV001
MIFTS: 54

Silver-Russell Syndrome (SRS) 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 52 11 23 48 24 25 54 70 12 39 13
Russell-Silver Syndrome 23 48 24 25 70 27 68
Silver-Russell Dwarfism 48 25 54 70
 
Srs 25 70
Rss 25 70
Silver Russell Dwarfism 11

Characteristics:

Orphanet epidemiological data:

54
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:

64
silver-russell syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 180860
Disease Ontology11 DOID:14681
ICD1030 Q87.1
NCIt45 C85068
SNOMED-CT62 15069006
Orphanet54 ORPHA813
MESH via Orphanet40 D056730
ICD10 via Orphanet31 Q87.1
UMLS via Orphanet69 C0175693
MedGen37 C0175693

Summaries for Silver-Russell Syndrome

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NIH Rare Diseases:48 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 7p11.2p13 microduplication and chromosome 11p15.5-related russell-silver syndrome, and has symptoms including Array, Array and Array. An important gene associated with Silver-Russell Syndrome is H19 (H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding)), and among its related pathways are Endochondral Ossification and Development IGF-1 receptor signaling. Affiliated tissues include testes, pituitary and placenta.

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).

OMIM:52 Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth... (180860) more...

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Silver–Russell dwarfism, also called Silver–Russell syndrome (SRS) or Russell–Silver... more...

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 96)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome due to 7p11.2p13 microduplication12.2
2chromosome 11p15.5-related russell-silver syndrome12.1
3chromosome 7-related russell-silver syndrome12.1
4silver-russell syndrome due to an imprinting defect of 11p1512.1
5silver-russell syndrome due to 11p15 microduplication12.1
6silver-russell syndrome due to maternal uniparental disomy of chromosome 1112.1
7silver-russell syndrome due to a point mutation12.1
8silver-russell syndrome due to maternal uniparental disomy of chromosome 712.1
9robinow-sorauf syndrome11.4
10partington syndrome11.4
11mental retardation, x-linked, snyder-robinson type11.1
12silver spastic paraplegia syndrome11.1
13diencephalic syndrome11.1
14spastic paraplegia 1711.1
15muscular dystrophy, rigid spine, 111.1
16dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.8
17selenon-related myopathy10.8
18hiv-110.4
19ehlers-danlos/osteogenesis imperfecta syndrome10.3H19, IGF2
20toxin-mediated infectious botulism10.3H19, IGF2
21nebulin-related early-onset distal myopathy10.3CDKN1C, IGF2
22beckwith-wiedemann syndrome10.3
23inclusion-cell disease10.3GRB10, H19, IGF2
24hemorrhagic fever10.3CDKN1C, H19, IGF2
25hall-riggs mental retardation syndrome10.2H19, IGF2, KCNQ1OT1
26epibulbar lipodermoid-preauricular appendage-polythelia syndrome10.2H19, IGF2, KCNQ1OT1
27dental abscess10.2CDKN1C, H19, IGF2
28sohval soffer syndrome10.2IGF1, IGFBP3
29traumatic glaucoma10.2CSH1, IGF1, IGFBP1
30epileptic encephalopathy, early infantile, 2410.2IGF1, IGF2, IGFBP3
31seow najjar syndrome10.2IGF1, IGFBP3
32gerstmann syndrome10.2IGF1, IGF2, IGFBP3
33malignant ovarian mixed epithelial neoplasm10.2CDKN1C, H19, IGF2
34ceroid lipofuscinosis, neuronal, 13, kufs type10.2CDKN1C, GRB10, IGF2, KCNQ1OT1
35central nervous system leiomyoma10.1IGF1, IGFBP1, IGFBP3
36fetal warfarin syndrome10.1H19, IGF1, IGF2, IGFBP3
37microtia, hearing impairment, and cleft palate10.1IGF1, IGFBP3
38capgras syndrome10.1IGF1, IGFBP3
39extrahepatic bile duct adenocarcinoma10.1IGF1, IGFBP1, IGFBP3
40albinism, oculocutaneous, type ib10.1CDKN1C, IGF1, IGFBP3
41growth hormone deficiency10.1
42thrombophilia10.1IGF1, IGF2, IGFBP1, IGFBP3
4316p13.11 microdeletion syndrome10.1DLK1, MEG3
44edict syndrome10.1IGF1, IGF2, IGFBP1, IGFBP3
4516p13.11 microduplication syndrome10.1DLK1, MEG3
46spondylometaphyseal dysplasia, megarbane-dagher-melike type10.1IGF1, IGFBP3
47deafness, autosomal recessive 6610.1GRB10, KCNQ1OT1, MEST, ZFP57
48exostosis10.1IGF1, IGFBP1, IGFBP3
49limb transversal defect-cardiac anomaly syndrome10.1DLK1, MEG3
50multiple benign circumferential skin creases on limbs10.0DLK1, MEG3

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



Diseases related to silver-russell syndrome

Symptoms & Phenotypes 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:

 54 64 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the urinary system64 54 Occasional (29-5%) HP:0000079
2 thin vermilion border64 54 Frequent (79-30%) HP:0000233
3 triangular face64 54 Very frequent (99-80%) HP:0000325
4 blue sclerae64 54 Very frequent (99-80%) HP:0000592
5 precocious puberty64 54 Occasional (29-5%) HP:0000826
6 intellectual disability, mild64 54 Occasional (29-5%) HP:0001256
7 intrauterine growth retardation64 54 Very frequent (99-80%) HP:0001511
8 failure to thrive in infancy64 54 Frequent (79-30%) HP:0001531
9 abnormality of the cardiovascular system64 54 Occasional (29-5%) HP:0001626
10 hypoglycemia64 54 Frequent (79-30%) HP:0001943
11 downturned corners of mouth64 54 Very frequent (99-80%) HP:0002714
12 delayed skeletal maturation64 54 Frequent (79-30%) HP:0002750
13 clinodactyly of the 5th finger64 54 Very frequent (99-80%) HP:0004209
14 short stature64 54 Very frequent (99-80%) HP:0004322
15 cachexia64 54 Very frequent (99-80%) HP:0004326
16 asymmetric growth64 54 Frequent (79-30%) HP:0100555
17 hypospadias64 HP:0000047
18 abnormality of the ureter64 HP:0000069
19 delayed cranial suture closure64 HP:0000270
20 micrognathia64 HP:0000347
21 growth hormone deficiency64 HP:0000824
22 cafe-au-lait spot64 HP:0000957
23 syndactyly64 HP:0001159
24 global developmental delay64 HP:0001263
25 hepatocellular carcinoma64 HP:0001402
26 small for gestational age64 HP:0001518
27 abnormality of the foot64 HP:0001760
28 frontal bossing64 HP:0002007
29 nephroblastoma64 HP:0002667
30 fasting hypoglycemia64 HP:0003162
31 short middle phalanx of the 5th finger64 HP:0004220
32 short distal phalanx of the 5th finger64 HP:0004227
33 craniofacial disproportion64 HP:0005461
34 congenital posterior urethral valve64 HP:0010957
35 craniopharyngioma64 HP:0030062
36 testicular seminoma64 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):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozoleapproved, investigational279120511-73-12187
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
2Hormones14415
3Hormones, Hormone Substitutes, and Hormone Antagonists13168
4Steroid Synthesis Inhibitors1763
5Hormone Antagonists13180
6Estrogens2542
7Antineoplastic Agents, Hormonal5592
8Aromatase Inhibitors826
9Estrogen Antagonists1349

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 Syndrome27 24 IGF2

Anatomical Context for Silver-Russell Syndrome

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MalaCards organs/tissues related to Silver-Russell Syndrome:

36
Testes, Pituitary, Placenta, Ovary, Heart, Skin, Cerebellum

Publications for Silver-Russell Syndrome

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Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. (28515796)
2017
2
De Novo IGF2 mutation on the paternal allele in a patient with silver-russell syndrome and ectrodactyly. (28489339)
2017
3
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome. (27701793)
2017
4
Metabolic signatures in an adolescent with Silver-Russell syndrome and outcomes after bariatric surgery. (28363403)
2017
5
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management. (28529015)
2017
6
Diagnosis and management of Silver-Russell syndrome: first international consensus statement. (27585961)
2016
7
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. (27362607)
2016
8
NSD1 duplication in Silver-Russell syndrome (SRS): Molecular karyotyping in patients with SRS features. (27172843)
2016
9
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. (26969265)
2016
10
Silver-Russell syndrome in Hong Kong. (27468965)
2016
11
New clinical and molecular insights into Silver-Russell syndrome. (27386972)
2016
12
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. (26963625)
2016
13
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. (26663145)
2016
14
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. (27150791)
2016
15
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. (27587987)
2016
16
Metabolic Health and Long-term Safety of Growth Hormone Treatment in Silver-Russell Syndrome. (28001454)
2016
17
First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. (26691664)
2016
18
New developments in Silver-Russell syndrome and implications for clinical practice. (27066913)
2016
19
Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome. (27798108)
2016
20
Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes. (27621468)
2016
21
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? (27007691)
2016
22
Temple syndrome misdiagnosed as Silver-Russell syndrome. (26862943)
2016
23
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family. (27612309)
2016
24
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. (25951829)
2015
25
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. (25427884)
2015
26
Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background. (26615046)
2015
27
Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome. (25700540)
2015
28
Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome. (26101195)
2015
29
Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation. (25657826)
2015
30
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. (25809938)
2015
31
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome. (26505556)
2015
32
Genome-wide methylation analysis in Silver-Russell syndrome patients. (25563730)
2015
33
Germline correction of an epimutation related to Silver-Russell syndrome. (25736213)
2015
34
IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation. (25066218)
2014
35
A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome. (25038594)
2014
36
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. (24664587)
2014
37
Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7. (24715348)
2014
38
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum. (25015868)
2014
39
Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome - a Chinese experience. (24945423)
2014
40
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome. (24550760)
2014
41
Report and review of described associations of Mayer-Rokitansky-KA1ster-Hauser syndrome and Silver-Russell syndrome. (25418154)
2014
42
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype. (25351781)
2014
43
Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion. (23745689)
2013
44
Collagenopathy with a phenotype resembling Silver-Russell syndrome phenotype. (23918677)
2013
45
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
46
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
47
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. (23885231)
2013
48
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. (24051620)
2013
49
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. (23533668)
2013
50
Silver: russell syndrome with cryptorchidism. (24349852)
2013

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:00169429.9IGF1, IGFBP3
2insulin-like growth factor ternary complexGO:00425679.9IGF1, IGFBP3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphorylationGO:004232610.6CDKN1C, GRB10
2insulin-like growth factor receptor signaling pathwayGO:004800910.5GRB10, IGF1
3positive regulation of glycogen biosynthetic processGO:004572510.5IGF1, IGF2
4positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.4IGF1, IGFBP3
5positive regulation of MAPK cascadeGO:004341010.0IGF1, IGF2, IGFBP3
6cellular protein metabolic processGO:004426710.0IGF1, IGF2, IGFBP1, IGFBP3
7regulation of insulin-like growth factor receptor signaling pathwayGO:00435679.9IGFBP1, IGFBP3
8regulation of gene expression by genetic imprintingGO:00063499.9CTCF, IGF2, ZFP57

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor bindingGO:000552010.3IGFBP1, IGFBP3
2insulin-like growth factor I bindingGO:003199410.3IGFBP1, IGFBP3
3hormone activityGO:000517910.3CSH1, IGF1, IGF2
4insulin-like growth factor II bindingGO:003199510.2IGFBP1, IGFBP3
5insulin receptor bindingGO:000515810.2GRB10, IGF1, IGF2
6insulin-like growth factor receptor bindingGO:000515910.0IGF1, IGF2

Sources for Silver-Russell Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet