SRS
MCID: SLV001
MIFTS: 54

Silver-Russell Syndrome (SRS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Silver-Russell Syndrome

Aliases & Descriptions for Silver-Russell Syndrome:

Name: Silver-Russell Syndrome 54 12 23 50 24 25 56 66 13 42 14
Russell-Silver Syndrome 23 50 24 25 66 29 69
Silver-Russell Dwarfism 50 25 56 66
Srs 25 66
Rss 25 66
Silver Russell Dwarfism 12

Characteristics:

Orphanet epidemiological data:

56
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:

32
silver-russell syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 180860
Disease Ontology 12 DOID:14681
ICD10 33 Q87.1
NCIt 47 C85068
SNOMED-CT 64 15069006
Orphanet 56 ORPHA813
MESH via Orphanet 43 D056730
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 70 C0175693
MedGen 40 C0175693
UMLS 69 C0175693

Summaries for Silver-Russell Syndrome

NIH Rare Diseases : 50 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 cachexia, precocious puberty and delayed skeletal maturation. An important gene associated with Silver-Russell Syndrome is H19 (H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding)), and among its related pathways/superpathways are Development IGF-1 receptor signaling and Endochondral Ossification. The drugs Anastrozole and Antineoplastic Agents, Hormonal have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and skin.

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

UniProtKB/Swiss-Prot : 66 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 syndrome... more...

GeneReviews: NBK1324

Related Diseases for Silver-Russell Syndrome

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)
id Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to 7p11.2p13 microduplication 12.2
2 chromosome 11p15.5-related russell-silver syndrome 12.1
3 chromosome 7-related russell-silver syndrome 12.1
4 silver-russell syndrome due to an imprinting defect of 11p15 12.1
5 silver-russell syndrome due to 11p15 microduplication 12.1
6 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.1
7 silver-russell syndrome due to a point mutation 12.1
8 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.1
9 robinow-sorauf syndrome 11.4
10 partington syndrome 11.4
11 mental retardation, x-linked, snyder-robinson type 11.1
12 spastic paraplegia 17 11.1
13 silver spastic paraplegia syndrome 11.1
14 diencephalic syndrome 11.1
15 muscular dystrophy, rigid spine, 1 11.1
16 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.8
17 selenon-related myopathy 10.8
18 hiv-1 10.4
19 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 H19 IGF2
20 toxin-mediated infectious botulism 10.3 H19 IGF2
21 nebulin-related early-onset distal myopathy 10.3 CDKN1C IGF2
22 beckwith-wiedemann syndrome 10.3
23 inclusion-cell disease 10.3 GRB10 H19 IGF2
24 hemorrhagic fever 10.3 CDKN1C H19 IGF2
25 hall-riggs mental retardation syndrome 10.2 H19 IGF2 KCNQ1OT1
26 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 10.2 H19 IGF2 KCNQ1OT1
27 dental abscess 10.2 CDKN1C H19 IGF2
28 sohval soffer syndrome 10.2 IGF1 IGFBP3
29 traumatic glaucoma 10.2 CSH1 IGF1 IGFBP1
30 epileptic encephalopathy, early infantile, 24 10.2 IGF1 IGF2 IGFBP3
31 seow najjar syndrome 10.2 IGF1 IGFBP3
32 gerstmann syndrome 10.2 IGF1 IGF2 IGFBP3
33 malignant ovarian mixed epithelial neoplasm 10.2 CDKN1C H19 IGF2
34 ceroid lipofuscinosis, neuronal, 13, kufs type 10.2 CDKN1C GRB10 IGF2 KCNQ1OT1
35 central nervous system leiomyoma 10.1 IGF1 IGFBP1 IGFBP3
36 fetal warfarin syndrome 10.1 H19 IGF1 IGF2 IGFBP3
37 microtia, hearing impairment, and cleft palate 10.1 IGF1 IGFBP3
38 capgras syndrome 10.1 IGF1 IGFBP3
39 extrahepatic bile duct adenocarcinoma 10.1 IGF1 IGFBP1 IGFBP3
40 albinism, oculocutaneous, type ib 10.1 CDKN1C IGF1 IGFBP3
41 growth hormone deficiency 10.1
42 thrombophilia 10.1 IGF1 IGF2 IGFBP1 IGFBP3
43 16p13.11 microdeletion syndrome 10.1 DLK1 MEG3
44 edict syndrome 10.1 IGF1 IGF2 IGFBP1 IGFBP3
45 16p13.11 microduplication syndrome 10.1 DLK1 MEG3
46 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.1 IGF1 IGFBP3
47 deafness, autosomal recessive 66 10.1 GRB10 KCNQ1OT1 MEST ZFP57
48 exostosis 10.1 IGF1 IGFBP1 IGFBP3
49 limb transversal defect-cardiac anomaly syndrome 10.1 DLK1 MEG3
50 multiple benign circumferential skin creases on limbs 10.0 DLK1 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

Symptoms by clinical synopsis from OMIM:

180860

Clinical features from OMIM:

180860

Human phenotypes related to Silver-Russell Syndrome:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 precocious puberty 56 32 Occasional (29-5%) HP:0000826
3 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
4 short stature 56 32 Very frequent (99-80%) HP:0004322
5 intellectual disability, mild 56 32 Occasional (29-5%) HP:0001256
6 abnormality of the cardiovascular system 56 32 Occasional (29-5%) HP:0001626
7 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
8 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
9 clinodactyly of the 5th finger 56 32 Very frequent (99-80%) HP:0004209
10 downturned corners of mouth 56 32 Very frequent (99-80%) HP:0002714
11 failure to thrive in infancy 56 32 Frequent (79-30%) HP:0001531
12 thin vermilion border 56 32 Frequent (79-30%) HP:0000233
13 triangular face 56 32 Very frequent (99-80%) HP:0000325
14 abnormality of the urinary system 56 32 Occasional (29-5%) HP:0000079
15 blue sclerae 56 32 Very frequent (99-80%) HP:0000592
16 asymmetric growth 56 32 Frequent (79-30%) HP:0100555
17 frontal bossing 32 HP:0002007
18 global developmental delay 32 HP:0001263
19 micrognathia 32 HP:0000347
20 abnormality of the foot 32 HP:0001760
21 hypospadias 32 HP:0000047
22 abnormality of the ureter 32 HP:0000069
23 nephroblastoma 32 HP:0002667
24 delayed cranial suture closure 32 HP:0000270
25 congenital posterior urethral valve 32 HP:0010957
26 hepatocellular carcinoma 32 HP:0001402
27 syndactyly 32 HP:0001159
28 small for gestational age 32 HP:0001518
29 growth hormone deficiency 32 HP:0000824
30 fasting hypoglycemia 32 HP:0003162
31 short middle phalanx of the 5th finger 32 HP:0004220
32 craniofacial disproportion 32 HP:0005461
33 testicular seminoma 32 HP:0100617
34 cafe-au-lait spot 32 HP:0000957
35 short distal phalanx of the 5th finger 32 HP:0004227
36 craniopharyngioma 32 HP:0030062

Drugs & Therapeutics for Silver-Russell Syndrome

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational 120511-73-1 2187
2 Antineoplastic Agents, Hormonal
3 Aromatase Inhibitors
4 Estrogen Antagonists
5 Estrogens
6 Hormone Antagonists
7 Hormones
8 Hormones, Hormone Substitutes, and Hormone Antagonists
9 Steroid Synthesis Inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase
1 Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents Completed NCT02859688
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes Active, not recruiting NCT01842659
4 Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome Active, not recruiting NCT01520467

Search NIH Clinical Center for Silver-Russell Syndrome

Cochrane evidence based reviews: silver-russell syndrome

Genetic Tests for Silver-Russell Syndrome

Genetic tests related to Silver-Russell Syndrome:

id Genetic test Affiliating Genes
1 Russell-Silver Syndrome 29 24 IGF2

Anatomical Context for Silver-Russell Syndrome

MalaCards organs/tissues related to Silver-Russell Syndrome:

39
Testes, Heart, Skin, Placenta, Ovary, Pituitary, Cerebellum

Publications for Silver-Russell Syndrome

Articles related to Silver-Russell Syndrome:

(show top 50) (show all 231)
id Title Authors Year
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

ClinVar genetic disease variations for Silver-Russell Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CDKN1C NM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu) single nucleotide variant Pathogenic rs318240750 GRCh38 Chromosome 11, 2884119: 2884119

Copy number variations for Silver-Russell Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 48344 14 23788159 23802256 Microduplication ICR2 Silver-Russell syndrome
2 48346 11 1 2800000 Microduplication KCNQ1OT1 Silver-Russell syndrome
3 48348 11 1 2800000 Microduplications ICR Silver-Russell syndrome

Expression for Silver-Russell Syndrome

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

Pathways for Silver-Russell Syndrome

GO Terms for Silver-Russell Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
2 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.46 IGF1 IGF2 IGFBP1 IGFBP3
2 negative regulation of phosphorylation GO:0042326 9.43 CDKN1C GRB10
3 positive regulation of MAPK cascade GO:0043410 9.43 IGF1 IGF2 IGFBP3
4 positive regulation of glycogen biosynthetic process GO:0045725 9.4 IGF1 IGF2
5 insulin-like growth factor receptor signaling pathway GO:0048009 9.37 GRB10 IGF1
6 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.32 IGF1 IGFBP3
7 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 8.96 IGFBP1 IGFBP3
8 regulation of gene expression by genetic imprinting GO:0006349 8.8 CTCF IGF2 ZFP57

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 CSH1 IGF1 IGF2
2 insulin-like growth factor binding GO:0005520 9.37 IGFBP1 IGFBP3
3 insulin-like growth factor receptor binding GO:0005159 9.26 IGF1 IGF2
4 insulin-like growth factor I binding GO:0031994 9.16 IGFBP1 IGFBP3
5 insulin-like growth factor II binding GO:0031995 8.96 IGFBP1 IGFBP3
6 insulin receptor binding GO:0005158 8.8 GRB10 IGF1 IGF2

Sources for Silver-Russell Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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