SRS
MCID: SLV001
MIFTS: 55

Silver-Russell Syndrome (SRS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Silver-Russell Syndrome

MalaCards integrated aliases for Silver-Russell Syndrome:

Name: Silver-Russell Syndrome 57 12 24 53 25 59 75 13 44 15
Russell-Silver Syndrome 57 24 53 25 75 37 29 6 73
Silver-Russell Dwarfism 57 53 25 59 75
Rss 57 25 75 3
Srs 57 25 75
Russell-Silver Syndrome; Rss 57
Silver-Russell Syndrome ) 40
Silver Russell Dwarfism 12
Russell Silver Syndrome 53
Silver Russell Syndrome 53
Silverrussell Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
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:

57
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 : 53 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.

MalaCards based summary : Silver-Russell Syndrome, also known as russell-silver syndrome, is related to silver-russell syndrome due to 11p15 microduplication and silver-russell syndrome due to an imprinting defect of 11p15. 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 Aromatase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and pituitary, and related phenotypes are obesity and precocious puberty

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 : 57 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 : 75 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 : 76 Silver�??Russell syndrome (SRS), also called Silver�??Russell dwarfism 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 240)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to 11p15 microduplication 34.0 IGF2 H19
2 silver-russell syndrome due to an imprinting defect of 11p15 34.0 IGF2 H19
3 silver-russell syndrome due to a point mutation 34.0 IGF2 CDKN1C
4 spastic paraplegia 17, autosomal dominant 33.0 CDKN1C GRB10 IGF2 KCNQ1OT1
5 beckwith-wiedemann syndrome 30.6 ZFP57 KCNQ1OT1 IGF2 H19 CTCF CDKN1C
6 temple syndrome 30.5 MEG3 DLK1
7 insulin-like growth factor i 30.5 IGFBP3 IGFBP1 IGF2 IGF1
8 slipped capital femoral epiphysis 30.5 IGFBP3 IGF1
9 turner syndrome 30.4 IGFBP3 IGFBP1 IGF1
10 acromegaly 30.3 IGF1 IGF2 IGFBP1 IGFBP3
11 adrenocortical carcinoma, hereditary 29.8 IGF2 H19 CDKN1C
12 breast disease 29.7 IGFBP3 IGFBP1 IGF2 IGF1
13 silver-russell syndrome due to 7p11.2p13 microduplication 12.5
14 russell-silver syndrome, x-linked 12.5
15 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.4
16 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.4
17 rigid spine muscular dystrophy 1 11.9
18 robinow-sorauf syndrome 11.7
19 partington x-linked mental retardation syndrome 11.6
20 diencephalic syndrome 11.4
21 spastic paraplegia 17 11.4
22 mental retardation, x-linked, syndromic, snyder-robinson type 11.3
23 syndromic x-linked intellectual disability snyder type 11.3
24 dystonia, dopa-responsive 11.2
25 schilbach-rott syndrome 11.2
26 perrault syndrome 1 11.1
27 dwarfism 10.3
28 benign mesenchymoma 10.3 IGF2 HMGA2
29 growth hormone deficiency 10.3
30 secondary adrenal insufficiency 10.2 IGFBP3 IGF1
31 gestational trophoblastic neoplasm 10.2 H19 CSH1 CDKN1C
32 trophoblastic neoplasm 10.2 H19 CSH1 CDKN1C
33 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.2 H19 IGF2 KCNQ1OT1
34 umbilical hernia 10.2 IGF2 H19 CDKN1C
35 pseudopapilledema 10.2 IGF2 IGF1
36 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.2 IGFBP3 IGF1
37 ovarian epithelial cancer 10.2 MEG3 H19
38 acid-labile subunit deficiency 10.2 IGFBP3 IGF2 IGF1
39 laron syndrome 10.2 IGFBP3 IGF2 IGF1
40 scoliosis 10.2
41 diffuse idiopathic skeletal hyperostosis 10.2 IGFBP3 IGF1
42 cystic fibrosis 10.2
43 hypoglycemia 10.2
44 12q14 microdeletion syndrome 10.2
45 mosaic trisomy 7 10.2
46 non-gestational choriocarcinoma 10.2 IGFBP1 CSH1
47 nutritional deficiency disease 10.2 IGFBP3 IGFBP1 IGF1
48 retinoblastoma 10.2
49 exudative vitreoretinopathy 1 10.2 IGFBP3 IGF1 CDKN1C
50 gastric cardia adenocarcinoma 10.2 MEG3 H19

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:

57
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:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
2 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
3 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
4 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
5 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
10 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
11 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
12 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
13 abnormality of the cardiovascular system 59 32 occasional (7.5%) Occasional (29-5%) HP:0001626
14 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
15 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
16 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
17 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
18 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
19 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
20 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
21 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
22 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
23 abnormality of the calcaneus 59 32 frequent (33%) Frequent (79-30%) HP:0008364
24 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
25 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
26 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
27 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
28 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
29 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
30 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
31 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
32 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
33 high pitched voice 59 32 frequent (33%) Frequent (79-30%) HP:0001620
34 lower limb asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0100559
35 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
36 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
37 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
38 delayed cranial suture closure 59 32 frequent (33%) Frequent (79-30%) HP:0000270
39 upper limb asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0100560
40 relative macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0004482
41 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
42 recurrent hypoglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0001988
43 shoulder dimples 59 32 frequent (33%) Frequent (79-30%) HP:0010782
44 premature adrenarche 59 32 frequent (33%) Frequent (79-30%) HP:0012412
45 cafe-au-lait spot 59 32 occasional (7.5%) Occasional (29-5%) HP:0000957
46 postnatal microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0005484
47 generalized neonatal hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008935
48 low-set ears 59 Very frequent (99-80%)
49 frontal bossing 32 HP:0002007
50 global developmental delay 32 HP:0001263

Drugs & Therapeutics for Silver-Russell Syndrome

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Not Applicable 120511-73-1 2187
2 Aromatase Inhibitors Not Applicable
3 Estrogen Receptor Antagonists Not Applicable
4 Estrogen Antagonists Not Applicable
5 Hormones Not Applicable
6 Steroid Synthesis Inhibitors Not Applicable
7 Antineoplastic Agents, Hormonal Not Applicable
8 Hormone Antagonists Not Applicable
9 Estrogens Not Applicable
10 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable

Interventional clinical trials:


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

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 29 H19 IGF2

Anatomical Context for Silver-Russell Syndrome

MalaCards organs/tissues related to Silver-Russell Syndrome:

41
Skin, Heart, Pituitary, Testes, Brain, Bone, Eye

Publications for Silver-Russell Syndrome

Articles related to Silver-Russell Syndrome:

(show top 50) (show all 341)
# Title Authors Year
1
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. ( 29655892 )
2018
2
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. ( 29659920 )
2018
3
Is ZFP57 binding to <i>H19/IGF2</i>:IG-DMR affected in Silver-Russell syndrome? ( 29484033 )
2018
4
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. ( 29250858 )
2018
5
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome. ( 29546330 )
2018
6
Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood. ( 29954740 )
2018
7
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. ( 29501611 )
2018
8
Genetic Analysis and Clinical Presentation in Silver Russell Syndrome. ( 30039337 )
2018
9
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. ( 30242100 )
2018
10
Gonadal function and pubertal development in patients with Silver-Russell syndrome. ( 30252068 )
2018
11
Contribution of a better maxillofacial phenotype in Silver-Russell syndrome to define a better orthodontics and surgical management. ( 30396025 )
2018
12
Russell-Silver syndrome with cleft palate: a case report. ( 30515601 )
2018
13
Cochlear malformation and sensorineural hearing loss in the Silver-Russell syndrome. ( 28882028 )
2017
14
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children. ( 29146936 )
2017
15
De Novo IGF2 mutation on the paternal allele in a patient with silver-russell syndrome and ectrodactyly. ( 28489339 )
2017
16
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. ( 28515796 )
2017
17
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. ( 28624953 )
2017
18
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome. ( 28675902 )
2017
19
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome. ( 28592837 )
2017
20
Orthodontic Treatment in Conjunction with Twin-bock Treatment and Growth Hormone Therapy in Silver Russell Syndrome. ( 28872989 )
2017
21
The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome. ( 29298282 )
2017
22
Patients with Silver-Russell-Syndrome from Birth to Adulthood: Diagnosis, Development and Medical Care. ( 29292870 )
2017
23
Metabolic signatures in an adolescent with Silver-Russell syndrome and outcomes after bariatric surgery. ( 28363403 )
2017
24
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome. ( 27701793 )
2017
25
Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7. ( 29026575 )
2017
26
Effect of Cyproheptadine on Weight and Growth Velocity in Children with Silver-Russell Syndrome. ( 28806298 )
2017
27
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
28
Adrenarche in Silver-Russell syndrome: timing and consequences. ( 28945864 )
2017
29
De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient. ( 28848601 )
2017
30
The next generation of Silver-Russell syndrome. ( 28750761 )
2017
31
Mosaic UPD(7q)mat in a patient with silver Russell syndrome. ( 29075327 )
2017
32
Silver-Russell Syndrome: A Review. ( 28764823 )
2017
33
The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome. ( 29292872 )
2017
34
Russell-Silver syndrome presenting with ambiguous genitalia. ( 27998648 )
2017
35
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. ( 26663145 )
2016
36
Diagnosis and management of Silver-Russell syndrome: first international consensus statement. ( 27585961 )
2016
37
Silver-Russell syndrome in Hong Kong. ( 27468965 )
2016
38
New clinical and molecular insights into Silver-Russell syndrome. ( 27386972 )
2016
39
New developments in Silver-Russell syndrome and implications for clinical practice. ( 27066913 )
2016
40
NSD1 duplication in Silver-Russell syndrome (SRS): Molecular karyotyping in patients with SRS features. ( 27172843 )
2016
41
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. ( 26963625 )
2016
42
Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome. ( 27798108 )
2016
43
Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes. ( 27621468 )
2016
44
Metabolic Health and Long-term Safety of Growth Hormone Treatment in Silver-Russell Syndrome. ( 28001454 )
2016
45
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. ( 26969265 )
2016
46
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. ( 27587987 )
2016
47
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? ( 27007691 )
2016
48
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
49
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. ( 27362607 )
2016
50
First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. ( 26691664 )
2016

Variations for Silver-Russell Syndrome

ClinVar genetic disease variations for Silver-Russell Syndrome:

6 (show all 14)
# 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 CDKN1C NM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu) single nucleotide variant Pathogenic rs318240750 GRCh37 Chromosome 11, 2905349: 2905349
3 PLAG1 NM_002655.2(PLAG1): c.1363delC (p.Gln455Serfs) deletion Pathogenic rs1114167318 GRCh37 Chromosome 8, 57078942: 57078942
4 PLAG1 NM_002655.2(PLAG1): c.1363delC (p.Gln455Serfs) deletion Pathogenic rs1114167318 GRCh38 Chromosome 8, 56166383: 56166383
5 HMGA2 NM_003483.4(HMGA2): c.193C> T (p.Gln65Ter) single nucleotide variant Pathogenic rs1114167319 GRCh38 Chromosome 12, 65828082: 65828082
6 HMGA2 NM_003483.4(HMGA2): c.193C> T (p.Gln65Ter) single nucleotide variant Pathogenic rs1114167319 GRCh37 Chromosome 12, 66221862: 66221862
7 HMGA2 NM_003483.4(HMGA2): c.189delA (p.Ala64Leufs) deletion Pathogenic rs1114167320 GRCh37 Chromosome 12, 66221858: 66221858
8 HMGA2 NM_003483.4(HMGA2): c.189delA (p.Ala64Leufs) deletion Pathogenic rs1114167320 GRCh38 Chromosome 12, 65828078: 65828078
9 IGF2 NM_000612.5(IGF2): c.78C> G (p.Tyr26Ter) single nucleotide variant Pathogenic rs1064794050 GRCh38 Chromosome 11, 2135446: 2135446
10 IGF2 NM_000612.5(IGF2): c.78C> G (p.Tyr26Ter) single nucleotide variant Pathogenic rs1064794050 GRCh37 Chromosome 11, 2156676: 2156676
11 PLAG1 NM_002655.2(PLAG1): c.439delA (p.Ser147Valfs) deletion Pathogenic rs1114167317 GRCh37 Chromosome 8, 57079866: 57079866
12 PLAG1 NM_002655.2(PLAG1): c.439delA (p.Ser147Valfs) deletion Pathogenic rs1114167317 GRCh38 Chromosome 8, 56167307: 56167307
13 IGF2 NM_000612.5(IGF2): c.157_157+1insGC insertion Pathogenic rs1114167321 GRCh38 Chromosome 11, 2135366: 2135367
14 IGF2 NM_000612.5(IGF2): c.157_157+1insGC insertion Pathogenic rs1114167321 GRCh37 Chromosome 11, 2156596: 2156597

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 negative regulation of phosphorylation GO:0042326 9.46 CDKN1C GRB10
2 cellular protein metabolic process GO:0044267 9.46 IGF1 IGF2 IGFBP1 IGFBP3
3 positive regulation of glycogen biosynthetic process GO:0045725 9.43 IGF1 IGF2
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.43 CSH1 IGF1 IGF2
5 positive regulation of transcription regulatory region DNA binding GO:2000679 9.4 HMGA2 IGF1
6 insulin-like growth factor receptor signaling pathway GO:0048009 9.37 GRB10 IGF1
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.32 IGF1 IGFBP3
8 embryonic placenta morphogenesis GO:0060669 8.96 CDKN1C IGF2
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 receptor binding GO:0005159 9.26 IGF1 IGF2
3 insulin-like growth factor I binding GO:0031994 9.16 IGFBP1 IGFBP3
4 insulin-like growth factor II binding GO:0031995 8.96 IGFBP1 IGFBP3
5 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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