MCID: SLV001
MIFTS: 56

Silver-Russell Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Silver-Russell Syndrome

MalaCards integrated aliases for Silver-Russell Syndrome:

Name: Silver-Russell Syndrome 54 12 23 50 24 25 56 71 13 42 14
Russell-Silver Syndrome 23 50 24 25 71 29 69
Silver-Russell Dwarfism 50 25 56 71
Srs 25 71
Rss 25 71
Silver Russell Dwarfism 12
Russell Silver Syndrome 50
Silver Russell Syndrome 50

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;

OMIM:

54
Inheritance:
isolated cases

Miscellaneous:
marked heterogeneity
majority cases are sporadic
chromosome rearrangements have been reported
maternal uniparental disomy (upd)7 reported in some cases


HPO:

32
silver-russell syndrome:
Inheritance sporadic


Classifications:



Summaries for Silver-Russell Syndrome

NIH Rare Diseases : 50 russell-silver syndrome (rss) is a rare condition associated with poor growth both before and after birth. signs and symptoms vary and may include low birth weight, short stature, characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties. other features may include poor appetite, 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. sometimes, the genetic cause cannot be identified. most cases are not inherited from a parent and occur sporadically. in rare cases, rss may be inherited in an autosomal dominant or autosomal recessive manner. because rss can lead to a wide variety of physical abnormalities and health problems, treatment ideally should be managed by a team of specialists with knowledge of rss. early intervention is recommended to help children with rss reach their full potential. last updated: 6/29/2017

MalaCards based summary : Silver-Russell Syndrome, also known as russell-silver syndrome, is related to silver-russell syndrome due to 7p11.2p13 microduplication and silver-russell syndrome due to a point mutation, and has symptoms including short stature, intrauterine growth retardation and hypoglycemia. An important gene associated with Silver-Russell Syndrome is IGF2 (Insulin Like Growth Factor 2), 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, bone and heart.

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 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. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Opposite epimutations, namely hypermethylation at the same region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome (BWS; 130650), an overgrowth syndrome (Bartholdi et al., 2009). (180860)

UniProtKB/Swiss-Prot : 71 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 : 72 Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism or Russell–Silver syndrome (RSS) is a... 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 98)
id Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to 7p11.2p13 microduplication 12.2
2 silver-russell syndrome due to a point mutation 12.1
3 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.1
4 chromosome 11p15.5-related russell-silver syndrome 12.1
5 chromosome 7-related russell-silver syndrome 12.1
6 silver-russell syndrome due to an imprinting defect of 11p15 12.1
7 silver-russell syndrome due to 11p15 microduplication 12.1
8 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.1
9 robinow-sorauf syndrome 11.4
10 partington syndrome 11.3
11 mental retardation, x-linked, snyder-robinson type 11.1
12 muscular dystrophy, rigid spine, 1 11.1
13 hypotelorism cleft palate hypospadias 10.9
14 dystonia, dopa-responsive, with or without hyperphenylalaninemia 10.9
15 high-grade dysplasia in patients with barrett esophagus 10.9 H19 IGF2
16 familial rhabdoid tumor 10.9 H19 IGF2
17 secondary non-traumatic avascular necrosis 10.9 CDKN1C IGF2
18 selenon-related myopathy 10.8
19 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.8
20 small cell lung cancer, childhood 10.7 IGF1 IGFBP3
21 hallermann-streiff syndrome 10.7 H19 IGF2 KCNQ1OT1
22 aapoaii amyloidosis 10.7 H19 IGF2 KCNQ1OT1
23 transitional papilloma 10.7 HMGA2 IGF2
24 hemoglobin zurich 10.7 CDKN1C H19 IGF2
25 selenium poisoning 10.6 IGF1 IGFBP3
26 traumatic glaucoma 10.6 CSH1 IGF1 IGFBP1
27 growth hormone insensitivity, partial 10.6 IGF1 IGF2 IGFBP3
28 pericardial tuberculosis 10.6 IGF1 IGF2 IGFBP3
29 lacrimal duct obstruction 10.6 IGF1 IGF2
30 lipase deficiency, combined 10.6 IGF1 IGFBP3
31 pulmonary large cell neuroendocrine carcinoma 10.6 IGF1 IGFBP3
32 epidermolytic acanthoma 10.5 CSH1 IGFBP1
33 encephalopathy, progressive, with or without lipodystrophy 10.5 CDKN1C GRB10 IGF2 KCNQ1OT1
34 haverhill fever 10.5 HMGA2 IGF1 IGF2
35 albinism, oculocutaneous, type ia 10.5 CDKN1C IGF1 IGFBP3
36 breast abscess 10.5 CDKN1C H19 IGF2 KCNQ1OT1
37 bile duct signet ring cell carcinoma 10.5 IGF1 IGFBP1 IGFBP3
38 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 10.5 IGF1 IGFBP3
39 fetal parvovirus syndrome 10.5 H19 IGF1 IGF2 IGFBP3
40 lung cancer susceptibility 2 10.5 IGF1 IGF2 IGFBP1 IGFBP3
41 leopard syndrome 1 10.4 CSH1 IGF1 IGFBP3
42 hiv-1 10.4
43 exostosis 10.4 IGF1 IGFBP1 IGFBP3
44 thrombophilia 10.4 IGF1 IGF2 IGFBP1 IGFBP3
45 protein s deficiency 10.4 IGF1 IGFBP3
46 nephronophthisis 19 10.4 GRB10 KCNQ1OT1 MEST ZFP57
47 histiocytic and dendritic cell cancer 10.4 IGF1 IGF2 IGFBP1 IGFBP3
48 mycobacterium tuberculosis 2 10.3 HMGA2 PLAG1
49 beckwith-wiedemann syndrome 10.3
50 hyperlipoproteinemia, type ib 10.3 IGF1 IGFBP3

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
developmental delay

Head And Neck- Head:
normal head circumference
pseudohydrocephalic appearance

Genitourinary- Ureters:
hypospadias
posterior urethral valves

Skin Nails & Hair- Skin:
cafe-au-lait spots

Head And Neck- Mouth:
downturned corners of mouth

Growth- Height:
average adult male height, 149.5 cm
average female adult height, 138 cm

Head And Neck- Eyes:
blue sclera in infancy

Skeletal:
skeletal maturation retardation

Skeletal- Feet:
syndactyly of 2nd-3rd toes

Head And Neck- Face:
micrognathia
frontal bossing
small, triangular face

Growth- Other:
intrauterine growth retardation
lateral asymmetry
partial or total asymmetry

Skeletal- Hands:
fifth finger clinodactyly
fifth digit middle or distal phalangeal hypoplasia

Neoplasia:
hepatocellular carcinoma
wilms tumor
craniopharyngioma
testicular seminoma

Skeletal- Skull:
delayed fontanel closure
craniofacial disproportion

Growth- Weight:
small for gestational age infant

Cardiovascular- Heart:
cardiac defects

Skeletal- Limbs:
asymmetry of arms and/or legs

Endocrine Features:
fasting hypoglycemia
growth hormone deficiency in some individuals


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 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
3 hypoglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0001943
4 thin vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0000233
5 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
6 triangular face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000325
7 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
8 downturned corners of mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0002714
9 blue sclerae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000592
10 precocious puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000826
11 cachexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004326
12 failure to thrive in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0001531
13 abnormality of the cardiovascular system 56 32 occasional (7.5%) Occasional (29-5%) HP:0001626
14 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
15 abnormality of the urinary system 56 32 occasional (7.5%) Occasional (29-5%) HP:0000079
16 asymmetric growth 56 32 frequent (33%) Frequent (79-30%) HP:0100555
17 micrognathia 32 HP:0000347
18 hypospadias 32 HP:0000047
19 frontal bossing 32 HP:0002007
20 global developmental delay 32 HP:0001263
21 syndactyly 32 HP:0001159
22 hepatocellular carcinoma 32 HP:0001402
23 growth hormone deficiency 32 HP:0000824
24 small for gestational age 32 HP:0001518
25 short middle phalanx of the 5th finger 32 HP:0004220
26 craniofacial disproportion 32 HP:0005461
27 fasting hypoglycemia 32 HP:0003162
28 craniopharyngioma 32 HP:0030062
29 testicular seminoma 32 HP:0100617
30 nephroblastoma 32 HP:0002667
31 abnormality of the foot 32 HP:0001760
32 abnormality of the ureter 32 HP:0000069
33 delayed cranial suture closure 32 HP:0000270
34 congenital posterior urethral valve 32 HP:0010957
35 cafe-au-lait spot 32 HP:0000957
36 short distal phalanx of the 5th finger 32 HP:0004227

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 Drugs
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 Anastrozole;Placebo

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, Bone, Heart, Skin, Placenta, Pituitary, Cerebellum

Publications for Silver-Russell Syndrome

Articles related to Silver-Russell Syndrome:

(show top 50) (show all 241)
id Title Authors Year
1
Orthodontic Treatment in Conjunction with Twin-bock Treatment and Growth Hormone Therapy in Silver Russell Syndrome. ( 28872989 )
2017
2
De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient. ( 28848601 )
2017
3
Adrenarche in Silver-Russell syndrome: timing and consequences. ( 28945864 )
2017
4
Metabolic signatures in an adolescent with Silver-Russell syndrome and outcomes after bariatric surgery. ( 28363403 )
2017
5
Cochlear malformation and sensorineural hearing loss in the Silver-Russell syndrome. ( 28882028 )
2017
6
De Novo IGF2 mutation on the paternal allele in a patient with silver-russell syndrome and ectrodactyly. ( 28489339 )
2017
7
The next generation of Silver-Russell syndrome. ( 28750761 )
2017
8
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
9
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. ( 28624953 )
2017
10
Silver-Russell Syndrome: A Review. ( 28764823 )
2017
11
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome. ( 27701793 )
2017
12
Effect of Cyproheptadine on Weight and Growth Velocity in Children with Silver-Russell Syndrome. ( 28806298 )
2017
13
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome. ( 28675902 )
2017
14
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. ( 28515796 )
2017
15
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome. ( 28592837 )
2017
16
Metabolic Health and Long-term Safety of Growth Hormone Treatment in Silver-Russell Syndrome. ( 28001454 )
2016
17
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
18
New clinical and molecular insights into Silver-Russell syndrome. ( 27386972 )
2016
19
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. ( 26969265 )
2016
20
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. ( 26963625 )
2016
21
Temple syndrome misdiagnosed as Silver-Russell syndrome. ( 26862943 )
2016
22
NSD1 duplication in Silver-Russell syndrome (SRS): Molecular karyotyping in patients with SRS features. ( 27172843 )
2016
23
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? ( 27007691 )
2016
24
Silver-Russell syndrome in Hong Kong. ( 27468965 )
2016
25
First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. ( 26691664 )
2016
26
Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes. ( 27621468 )
2016
27
Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome. ( 27798108 )
2016
28
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. ( 27150791 )
2016
29
New developments in Silver-Russell syndrome and implications for clinical practice. ( 27066913 )
2016
30
Diagnosis and management of Silver-Russell syndrome: first international consensus statement. ( 27585961 )
2016
31
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. ( 27587987 )
2016
32
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
33
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. ( 26663145 )
2016
34
Germline correction of an epimutation related to Silver-Russell syndrome. ( 25736213 )
2015
35
Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome. ( 25700540 )
2015
36
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. ( 25427884 )
2015
37
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome. ( 26505556 )
2015
38
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
39
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. ( 25809938 )
2015
40
Genome-wide methylation analysis in Silver-Russell syndrome patients. ( 25563730 )
2015
41
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. ( 25951829 )
2015
42
Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background. ( 26615046 )
2015
43
Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome. ( 26101195 )
2015
44
IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation. ( 25066218 )
2014
45
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum. ( 25015868 )
2014
46
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
47
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome. ( 24550760 )
2014
48
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. ( 24664587 )
2014
49
Report and review of described associations of Mayer-Rokitansky-KA1ster-Hauser syndrome and Silver-Russell syndrome. ( 25418154 )
2014
50
A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome. ( 25038594 )
2014

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
2 PLAG1 NM_002655.2(PLAG1): c.1363delC (p.Gln455Serfs) deletion Pathogenic rs1114167318 GRCh37 Chromosome 8, 57078942: 57078942
3 HMGA2 NM_003483.4(HMGA2): c.193C> T (p.Gln65Ter) single nucleotide variant Pathogenic rs1114167319 GRCh38 Chromosome 12, 65828082: 65828082
4 HMGA2 NM_003483.4(HMGA2): c.189delA (p.Ala64Leufs) deletion Pathogenic rs1114167320 GRCh37 Chromosome 12, 66221858: 66221858
5 IGF2 NM_000612.5(IGF2): c.78C> G (p.Tyr26Ter) single nucleotide variant Pathogenic rs1064794050 GRCh38 Chromosome 11, 2135446: 2135446
6 PLAG1 NM_002655.2(PLAG1): c.439delA (p.Ser147Valfs) deletion Pathogenic rs1114167317 GRCh37 Chromosome 8, 57079866: 57079866
7 IGF2 NM_000612.5(IGF2): c.157_157+1insGC insertion Pathogenic rs1114167321 GRCh38 Chromosome 11, 2135366: 2135367

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 9.56 IGF1 IGF2 IGFBP1 IGFBP3
2 positive regulation of MAPK cascade GO:0043410 9.5 IGF1 IGF2 IGFBP3
3 negative regulation of phosphorylation GO:0042326 9.48 CDKN1C GRB10
4 positive regulation of glycogen biosynthetic process GO:0045725 9.46 IGF1 IGF2
5 positive regulation of transcription regulatory region DNA binding GO:2000679 9.43 HMGA2 IGF1
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.4 GRB10 IGF1
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.37 IGF1 IGFBP3
8 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.16 IGFBP1 IGFBP3
9 regulation of gene expression by genetic imprinting GO:0006349 8.8 CTCF IGF2 ZFP57
10 embryonic placenta morphogenesis GO:0060669 8.65 CDKN1C

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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