MCID: SLV001
MIFTS: 57

Silver-Russell Syndrome

Categories: Rare diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Silver-Russell Syndrome

MalaCards integrated aliases for Silver-Russell Syndrome:

Name: Silver-Russell Syndrome 53 12 23 49 24 55 71 13 41 14
Russell-Silver Syndrome 53 23 49 24 71 36 28 69
Silver-Russell Dwarfism 53 49 24 55 71
Rss 53 24 71 3
Srs 53 24 71
Russell-Silver Syndrome; Rss 53
Silver Russell Dwarfism 12
Russell Silver Syndrome 49
Silver Russell Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
silver-russell syndrome:
Inheritance sporadic


Classifications:



Summaries for Silver-Russell Syndrome

NIH Rare Diseases : 49 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 an imprinting defect of 11p15 and silver-russell syndrome due to 11p15 microduplication, and has symptoms including arthralgia, constipation and cachexia. 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 skin.

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 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 : 53 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 86)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to an imprinting defect of 11p15 34.3 H19 IGF2
2 silver-russell syndrome due to 11p15 microduplication 34.3 H19 IGF2
3 silver-russell syndrome due to a point mutation 34.2 CDKN1C IGF2
4 spastic paraplegia 17, autosomal dominant 32.9 CDKN1C GRB10 IGF2 KCNQ1OT1
5 insulin-like growth factor i 30.4 IGF1 IGF2 IGFBP1 IGFBP3
6 beckwith-wiedemann syndrome 30.2 CDKN1C CTCF H19 H19-ICR IGF2 KCNQ1OT1
7 silver-russell syndrome due to 7p11.2p13 microduplication 12.4
8 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.4
9 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.3
10 russell-silver syndrome, x-linked 12.3
11 robinow-sorauf syndrome 11.5
12 partington x-linked mental retardation syndrome 11.5
13 rigid spine muscular dystrophy 1 11.3
14 diencephalic syndrome 11.2
15 spastic paraplegia 17 11.2
16 slipped capital femoral epiphysis 10.5 IGF1 IGFBP3
17 benign mesenchymoma 10.5 HMGA2 IGF2
18 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.5 H19 IGF2 KCNQ1OT1
19 umbilical hernia 10.5 CDKN1C H19 IGF2
20 secondary adrenal insufficiency 10.5 IGF1 IGFBP3
21 wilms tumor 5 10.5 CDKN1C H19 IGF2
22 non-gestational choriocarcinoma 10.4 CSH1 IGFBP1
23 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.4 IGF1 IGFBP3
24 persistent fetal circulation syndrome 10.4 CSH1 IGF1 IGFBP1
25 acid-labile subunit deficiency 10.4 IGF1 IGF2 IGFBP3
26 pseudopapilledema 10.4 IGF1 IGF2
27 mental retardation, x-linked, syndromic, snyder-robinson type 10.4
28 laron syndrome 10.4 IGF1 IGF2 IGFBP3
29 meninges hemangiopericytoma 10.4 IGF1 IGF2 IGFBP3
30 pituitary adenoma 1, multiple types 10.4 IGF1 IGFBP3
31 diffuse idiopathic skeletal hyperostosis 10.4 IGF1 IGFBP3
32 nutritional deficiency disease 10.4 IGF1 IGFBP1 IGFBP3
33 exudative vitreoretinopathy 1 10.3 CDKN1C IGF1 IGFBP3
34 turner syndrome 10.3 IGF1 IGFBP1 IGFBP3
35 osteoporosis, juvenile 10.3 IGF1 IGFBP3
36 hemihyperplasia, isolated 10.3 CDKN1C H19 IGF2 KCNQ1OT1
37 ocular hyperemia 10.3 IGF2 IGFBP3
38 acromegaly 10.3 IGF1 IGF2 IGFBP1 IGFBP3
39 noonan syndrome 1 10.3 CSH1 IGF1 IGFBP3
40 fetal macrosomia 10.3 H19 IGF1 IGF2 IGFBP3
41 hyperinsulinism 10.3 IGF1 IGFBP1 IGFBP3
42 mammographic density 10.3 IGF1 IGFBP3
43 prader-willi syndrome 10.2 IGF1 IGF2 IGFBP1 IGFBP3
44 diabetes mellitus, transient neonatal, 1 10.2 GRB10 KCNQ1OT1 MEST ZFP57
45 salivary gland adenoma, pleomorphic 10.2 HMGA2 PLAG1
46 diabetes mellitus, insulin-dependent 10.2 IGF1 IGF2 IGFBP1 IGFBP3
47 wilms tumor 1 10.2 CTCF H19 IGF1 IGF2
48 aging 10.2
49 growth hormone deficiency 10.2
50 hyperpituitarism 10.2 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:

53
Head And Neck Face:
frontal bossing
micrognathia
small, triangular face

Genitourinary Ureters:
hypospadias
posterior urethral valves

Neoplasia:
hepatocellular carcinoma
testicular seminoma
wilms tumor
craniopharyngioma

Skeletal Skull:
craniofacial disproportion
delayed fontanel closure

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

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

Head And Neck Head:
pseudohydrocephalic appearance
normal head circumference

Cardiovascular Heart:
cardiac defects

Skeletal Limbs:
asymmetry of arms and/or legs

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

Head And Neck Mouth:
downturned corners of mouth

Endocrine Features:
fasting hypoglycemia
growth hormone deficiency in some individuals

Neurologic Central Nervous System:
developmental delay

Skin Nails Hair Skin:
cafe-au-lait spots

Growth Weight:
small for gestational age infant

Head And Neck Eyes:
blue sclera in infancy

Skeletal:
skeletal maturation retardation

Skeletal Feet:
syndactyly of 2nd-3rd toes


Clinical features from OMIM:

180860

Human phenotypes related to Silver-Russell Syndrome:

55 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
2 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
3 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
4 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
5 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
6 hyperhidrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000975
7 sleep disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0002360
8 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
9 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
10 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
12 intellectual disability, mild 55 31 occasional (7.5%) Occasional (29-5%) HP:0001256
13 decreased muscle mass 55 31 frequent (33%) Frequent (79-30%) HP:0003199
14 abnormality of the cardiovascular system 55 31 occasional (7.5%) Occasional (29-5%) HP:0001626
15 prominent forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0011220
16 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
17 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
18 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
20 postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008897
21 failure to thrive in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0001531
22 abnormality of the calcaneus 55 31 frequent (33%) Frequent (79-30%) HP:0008364
23 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
24 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
25 decreased testicular size 55 31 frequent (33%) Frequent (79-30%) HP:0008734
26 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
27 dental crowding 55 31 frequent (33%) Frequent (79-30%) HP:0000678
28 sandal gap 55 31 occasional (7.5%) Occasional (29-5%) HP:0001852
29 downturned corners of mouth 55 31 frequent (33%) Frequent (79-30%) HP:0002714
30 thin vermilion border 55 31 frequent (33%) Frequent (79-30%) HP:0000233
31 triangular face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000325
32 high pitched voice 55 31 frequent (33%) Frequent (79-30%) HP:0001620
33 abnormality of the vagina 55 31 occasional (7.5%) Occasional (29-5%) HP:0000142
34 lower limb asymmetry 55 31 frequent (33%) Frequent (79-30%) HP:0100559
35 blue sclerae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000592
36 motor delay 55 31 frequent (33%) Frequent (79-30%) HP:0001270
37 premature birth 55 31 frequent (33%) Frequent (79-30%) HP:0001622
38 autistic behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0000729
39 delayed cranial suture closure 55 31 frequent (33%) Frequent (79-30%) HP:0000270
40 upper limb asymmetry 55 31 frequent (33%) Frequent (79-30%) HP:0100560
41 relative macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0004482
42 insulin resistance 55 31 frequent (33%) Frequent (79-30%) HP:0000855
43 recurrent hypoglycemia 55 31 frequent (33%) Frequent (79-30%) HP:0001988
44 shoulder dimples 55 31 frequent (33%) Frequent (79-30%) HP:0010782
45 premature adrenarche 55 31 frequent (33%) Frequent (79-30%) HP:0012412
46 cafe-au-lait spot 55 31 occasional (7.5%) Occasional (29-5%) HP:0000957
47 postnatal microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0005484
48 generalized neonatal hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008935
49 low-set ears 55 Very frequent (99-80%)
50 frontal bossing 31 HP:0002007

Drugs & Therapeutics for Silver-Russell Syndrome

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

(show all 9)
# 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:


# 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:

# Genetic test Affiliating Genes
1 Russell-Silver Syndrome 28 H19 IGF2

Anatomical Context for Silver-Russell Syndrome

MalaCards organs/tissues related to Silver-Russell Syndrome:

38
Testes, Bone, Skin, Heart, Placenta, Pituitary, Cerebellum

Publications for Silver-Russell Syndrome

Articles related to Silver-Russell Syndrome:

(show top 50) (show all 248)
# Title Authors Year
1
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. ( 29250858 )
2018
2
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. ( 28515796 )
2017
3
Orthodontic Treatment in Conjunction with Twin-bock Treatment and Growth Hormone Therapy in Silver Russell Syndrome. ( 28872989 )
2017
4
Patients with Silver-Russell-Syndrome from Birth to Adulthood: Diagnosis, Development and Medical Care. ( 29292870 )
2017
5
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children. ( 29146936 )
2017
6
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome. ( 28675902 )
2017
7
Silver-Russell Syndrome: A Review. ( 28764823 )
2017
8
The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome. ( 29292872 )
2017
9
De Novo IGF2 mutation on the paternal allele in a patient with silver-russell syndrome and ectrodactyly. ( 28489339 )
2017
10
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. ( 28624953 )
2017
11
The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome. ( 29298282 )
2017
12
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome. ( 28592837 )
2017
13
De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient. ( 28848601 )
2017
14
Cochlear malformation and sensorineural hearing loss in the Silver-Russell syndrome. ( 28882028 )
2017
15
Mosaic UPD(7q)mat in a patient with silver Russell syndrome. ( 29075327 )
2017
16
Metabolic signatures in an adolescent with Silver-Russell syndrome and outcomes after bariatric surgery. ( 28363403 )
2017
17
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
18
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome. ( 27701793 )
2017
19
Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7. ( 29026575 )
2017
20
The next generation of Silver-Russell syndrome. ( 28750761 )
2017
21
Adrenarche in Silver-Russell syndrome: timing and consequences. ( 28945864 )
2017
22
Effect of Cyproheptadine on Weight and Growth Velocity in Children with Silver-Russell Syndrome. ( 28806298 )
2017
23
Diagnosis and management of Silver-Russell syndrome: first international consensus statement. ( 27585961 )
2016
24
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. ( 26969265 )
2016
25
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. ( 26963625 )
2016
26
Silver-Russell syndrome in Hong Kong. ( 27468965 )
2016
27
New developments in Silver-Russell syndrome and implications for clinical practice. ( 27066913 )
2016
28
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. ( 27150791 )
2016
29
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? ( 27007691 )
2016
30
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. ( 27587987 )
2016
31
NSD1 duplication in Silver-Russell syndrome (SRS): Molecular karyotyping in patients with SRS features. ( 27172843 )
2016
32
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. ( 26663145 )
2016
33
Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes. ( 27621468 )
2016
34
New clinical and molecular insights into Silver-Russell syndrome. ( 27386972 )
2016
35
Metabolic Health and Long-term Safety of Growth Hormone Treatment in Silver-Russell Syndrome. ( 28001454 )
2016
36
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
37
Temple syndrome misdiagnosed as Silver-Russell syndrome. ( 26862943 )
2016
38
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
39
First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. ( 26691664 )
2016
40
Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome. ( 27798108 )
2016
41
Germline correction of an epimutation related to Silver-Russell syndrome. ( 25736213 )
2015
42
Genome-wide methylation analysis in Silver-Russell syndrome patients. ( 25563730 )
2015
43
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome. ( 26505556 )
2015
44
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. ( 25809938 )
2015
45
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
46
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. ( 25951829 )
2015
47
Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background. ( 26615046 )
2015
48
Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome. ( 25700540 )
2015
49
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. ( 25427884 )
2015
50
Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome. ( 26101195 )
2015

Variations for Silver-Russell Syndrome

ClinVar genetic disease variations for Silver-Russell Syndrome:

6
# 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
# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.54 IGF1 IGF2 IGFBP3
2 negative regulation of phosphorylation GO:0042326 9.46 CDKN1C GRB10
3 cellular protein metabolic process GO:0044267 9.46 IGF1 IGF2 IGFBP1 IGFBP3
4 positive regulation of transcription regulatory region DNA binding GO:2000679 9.43 HMGA2 IGF1
5 positive regulation of glycogen biosynthetic process GO:0045725 9.4 IGF1 IGF2
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.32 GRB10 IGF1
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.26 IGF1 IGFBP3
8 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 8.96 IGFBP1 IGFBP3
9 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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