SRS
MCID: SLV001
MIFTS: 54

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 56 12 74 24 52 25 58 73 13 43 15 39
Russell-Silver Syndrome 56 24 52 25 73 36 29 6 71
Silver-Russell Dwarfism 56 52 25 58 73
Srs 56 25 73
Rss 56 25 73
Russell-Silver Syndrome; Rss 56
Silver Russell Dwarfism 12
Russell Silver Syndrome 52
Silver Russell Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
Miscellaneous:
imprinted disorder
marked heterogeneity
majority cases are sporadic
chromosome rearrangements have been reported
maternal uniparental disomy (upd)7 reported in some cases

Inheritance:
autosomal dominant (loss of paternal allele)


HPO:

31
silver-russell syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Silver-Russell Syndrome

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). Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development, speech and language problems, and learning disabilities.

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 a point mutation. An important gene associated with Silver-Russell Syndrome is IGF2 (Insulin Like Growth Factor 2), and among its related pathways/superpathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Anastrozole and Estrogens have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are short stature and feeding difficulties

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Russell-Silver syndrome (RSS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. SRS is associated with genetic or epigenetic mutations that affect two different chromosomes. In addition to maternal uniparental disomy of chromosome 7, hypomethylation of the imprinting control region 1 (ICR1) in 11p15 and maternal duplication of 11p15 have recently been described as major epigenetic disturbances in SRS. The ICR1 regulates expression of the paternally expressed IGF2 and the maternally expressed H19. The H19 gene encodes a 2.3-kb non-coding mRNA, which is strongly expressed during embryogenesis and possibly functions as a microRNA. It has been proposed that H19 hypomethylation leads to biallelic expression of this gene and downregulation of IGF2 expression resulting in growth retardation.

UniProtKB/Swiss-Prot : 73 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 : 74 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 599)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to 11p15 microduplication 34.8 IGF2 H19
2 silver-russell syndrome due to a point mutation 34.8 IGF2 CDKN1C
3 silver-russell syndrome due to an imprinting defect of 11p15 34.8 IGF2 H19
4 spastic paraplegia 17, autosomal dominant 33.2 KCNQ1OT1 IGF2 GRB10 CDKN1C
5 maternal uniparental disomy 32.3 MEST MEG3 H19-ICR DLK1
6 hemihyperplasia, isolated 31.7 KCNQ1OT1 IGF2 H19 CDKN1C
7 temple syndrome 31.4 MEG3 DLK1
8 overgrowth syndrome 31.2 IGF2 H19-ICR
9 beckwith-wiedemann syndrome 31.2 ZFP57 MEST MEG3 LOC105274310 KCNQ1OT1 IGF2
10 insulin-like growth factor i 31.2 IGFBP3 IGFBP1 IGF2
11 wilms tumor 5 31.0 IGF2 H19 CDKN1C
12 turner syndrome 30.9 IGFBP3 IGFBP1 IGF2
13 neonatal diabetes mellitus 30.8 ZFP57 MEST KCNQ1OT1 GRB10 CDKN1C
14 choriocarcinoma 30.8 H19 CSH1 CDKN1C
15 gestational diabetes 30.8 IGFBP1 IGF2 CSH1
16 prader-willi syndrome 30.8 IGFBP3 IGFBP1 IGF2 H19 DLK1
17 acromegaly 30.7 IGFBP3 IGFBP1 IGF2
18 acid-labile subunit deficiency 30.6 IGFBP3 IGF2
19 transient neonatal diabetes mellitus 30.6 ZFP57 MEST KCNQ1OT1 IGF2 GRB10 DLK1
20 russell-silver syndrome, x-linked 12.7
21 silver-russell syndrome due to 7p11.2p13 microduplication 12.7
22 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.5
23 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.5
24 rigid spine muscular dystrophy 1 12.1
25 mental retardation, x-linked, syndromic, snyder-robinson type 12.0
26 syndromic x-linked intellectual disability snyder type 12.0
27 robinow-sorauf syndrome 11.8
28 partington x-linked mental retardation syndrome 11.8
29 spastic paraplegia 17 11.5
30 schilbach-rott syndrome 11.5
31 dystonia, dopa-responsive 11.4
32 diencephalic syndrome 11.3
33 uniparental disomy of chromosome 7 10.9
34 trophoblastic neoplasm 10.7 H19 CSH1
35 pax6-related aniridia 10.7 IGF2 H19
36 wilms tumor 2 10.7 H19-ICR H19
37 meninges hemangiopericytoma 10.6 IGFBP3 IGF2
38 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.6 KCNQ1OT1 IGF2 H19
39 persistent fetal circulation syndrome 10.6 IGFBP1 IGF2 CSH1
40 fetal macrosomia 10.6 IGFBP3 IGF2 H19
41 salivary gland adenoma, pleomorphic 10.6 PLAG1 HMGA2
42 laron syndrome 10.6 IGFBP3 IGFBP1 IGF2
43 chondroid lipoma 10.6 PLAG1 HMGA2
44 angiomatosis 10.6 PLAG1 DLK1
45 vulvar leiomyoma 10.6 PLAG1 HMGA2
46 omphalocele 10.6 KCNQ1OT1 IGF2 CDKN1C
47 pleomorphic adenoma carcinoma 10.6 PLAG1 HMGA2
48 hyperandrogenism 10.6 IGFBP3 IGFBP1 IGF2
49 umbilical hernia 10.6 KCNQ1OT1 IGF2 H19 CDKN1C
50 gestational trophoblastic neoplasm 10.6 ZFP57 H19 CSH1 CDKN1C

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



Diseases related to Silver-Russell Syndrome

Symptoms & Phenotypes for Silver-Russell Syndrome

Human phenotypes related to Silver-Russell Syndrome:

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
5 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
6 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
7 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
8 blue sclerae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000592
9 relative macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004482
10 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
11 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
12 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
13 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
16 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
17 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
18 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
19 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
20 abnormality of the calcaneus 58 31 frequent (33%) Frequent (79-30%) HP:0008364
21 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
22 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
23 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
24 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
25 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
26 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
27 premature adrenarche 58 31 frequent (33%) Frequent (79-30%) HP:0012412
28 high pitched voice 58 31 frequent (33%) Frequent (79-30%) HP:0001620
29 lower limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100559
30 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
31 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
32 upper limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100560
33 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
34 recurrent hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001988
35 shoulder dimple 31 frequent (33%) HP:0010782
36 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
37 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
38 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
39 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
40 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
41 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
42 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
43 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
44 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
45 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
46 postnatal microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0005484
47 generalized neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008935
48 abnormal vagina morphology 31 occasional (7.5%) HP:0000142
49 low-set ears 58 Very frequent (99-80%)
50 frontal bossing 31 HP:0002007

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing
micrognathia
small, triangular face

Genitourinary External Genitalia Male:
hypospadias

Endocrine Features:
fasting hypoglycemia
growth hormone deficiency in some individuals

Skeletal Skull:
craniofacial disproportion
delayed fontanel closure

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

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

Head And Neck Mouth:
downturned corners of mouth

Neoplasia:
hepatocellular carcinoma
testicular seminoma
craniopharyngioma
wilms tumor

Genitourinary Bladder:
posterior urethral valve

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

Clinical features from OMIM:

180860

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 Estrogens
3 Aromatase Inhibitors
4 Hormone Antagonists
5 Antineoplastic Agents, Hormonal
6 Steroid Synthesis Inhibitors
7 Estrogen Receptor Antagonists
8 Estrogen Antagonists
9 Hormones

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
2 Efficacy and Tolerance of Treatment With an Aromatase Inhibitor (Anastrozole) to Limit the Progression of Bone Maturation Related to Pathological Adrenarche in Children With Silver-Russell or Prader-Willi Syndrome Unknown status NCT01520467 Anastrozole;Placebo
3 Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents Completed NCT02859688
4 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:

40
Bone, Heart, Kidney, T Cells, Lung, Prostate, Skin

Publications for Silver-Russell Syndrome

Articles related to Silver-Russell Syndrome:

(show top 50) (show all 654)
# Title Authors PMID Year
1
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. 61 24 56
19066168 2009
2
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. 61 24 56
18474587 2008
3
The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. 61 24 56
18230663 2008
4
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. 61 24 56
17504900 2007
5
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. 61 24 56
16963484 2007
6
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. 61 24 56
16086014 2005
7
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. 61 24 56
11112662 2001
8
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. 61 24 56
10631135 2000
9
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. 61 24 56
10544228 1999
10
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. 61 24 56
10987657 1999
11
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. 61 56
21920939 2012
12
Methylation profiling in individuals with Russell-Silver syndrome. 61 56
20082469 2010
13
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. 61 56
19755383 2009
14
Myoclonus-dystonia due to maternal uniparental disomy. 61 56
18852357 2008
15
The genetic aetiology of Silver-Russell syndrome. 61 56
18156438 2008
16
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. 61 56
17033973 2006
17
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. 61 56
16236811 2006
18
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. 61 56
16532391 2006
19
Two sisters with Silver-Russell phenotype. 61 56
15523618 2004
20
Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome? 61 56
15057125 2004
21
Gastrointestinal complications of Russell-Silver syndrome: a pilot study. 61 56
12400060 2002
22
Silver-Russell Syndrome 61 6
20301499 2002
23
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. 61 56
12384779 2002
24
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. 61 56
12210300 2002
25
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. 61 56
11829489 2002
26
Evidence against GRB10 as the gene responsible for Silver-Russell syndrome. 61 56
11527390 2001
27
No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome. 61 56
11252004 2001
28
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. 61 56
11313740 2001
29
Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24. 61 56
11161811 2001
30
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. 61 56
10856193 2000
31
Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. 61 56
10691413 2000
32
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. 61 56
9733042 1998
33
Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. 61 56
9448292 1998
34
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. 61 56
9272165 1997
35
Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families. 61 56
9359045 1997
36
Maternal uniparental disomy 7 in Silver-Russell syndrome. 61 56
9032641 1997
37
Autosomal dominant Russell-Silver syndrome. 61 56
8741931 1996
38
Monozygotic twins discordant for the Russell-Silver syndrome. 61 56
8533797 1995
39
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. 61 56
7633407 1995
40
Autosomal recessive Silver-Russell syndrome. 61 56
1285272 1992
41
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13) 61 56
1633648 1992
42
Monozygotic twins discordant for the Russell-Silver syndrome. 61 56
2260605 1990
43
Three-generation dominant transmission of the Silver-Russell syndrome. 61 56
2178417 1990
44
Severe Silver-Russell syndrome. 61 56
2746617 1989
45
Hepatocellular carcinoma in a child with familial Russell-Silver syndrome. 61 56
2853572 1988
46
Russell-Silver syndrome. 61 56
3050100 1988
47
Hand radiographs in Russell-Silver syndrome. 61 56
3575032 1987
48
Silver-Russell syndrome. A family with symmetric and asymmetric siblings. 61 56
6894081 1981
49
Silver-Russell syndrome. Observations in 20 patients. 61 56
521296 1979
50
Phenotypic and genetic analysis of the silver-Russell syndrome. 61 56
639337 1978

Variations for Silver-Russell Syndrome

ClinVar genetic disease variations for Silver-Russell Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDKN1C NM_000076.2(CDKN1C):c.836G>T (p.Arg279Leu)SNV Pathogenic 192361 rs318240750 11:2905349-2905349 11:2884119-2884119
2 PLAG1 NM_002655.3(PLAG1):c.1363del (p.Gln455fs)deletion Pathogenic 253033 rs1114167318 8:57078942-57078942 8:56166383-56166383
3 HMGA2 NM_003483.4(HMGA2):c.193C>T (p.Gln65Ter)SNV Pathogenic 253034 rs1114167319 12:66221862-66221862 12:65828082-65828082
4 HMGA2 NM_003483.4(HMGA2):c.189del (p.Ala64fs)deletion Pathogenic 253035 rs1114167320 12:66221858-66221858 12:65828078-65828078
5 IGF2 NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)SNV Pathogenic 253036 rs1064794050 11:2156676-2156676 11:2135446-2135446
6 PLAG1 NM_002655.3(PLAG1):c.439del (p.Ser147fs)deletion Pathogenic 253204 rs1114167317 8:57079866-57079866 8:56167307-56167307
7 IGF2 NM_000612.6(IGF2):c.157+1_157+2insGCinsertion Pathogenic 253298 rs1114167321 11:2156595-2156596 11:2135365-2135366
8 subset of 245 genes: CDKN1C , DCHS1 , KCNQ1 , KCNQ1OT1 GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)copy number gain Pathogenic 625559 11:193146-12643136

Copy number variations for Silver-Russell Syndrome from CNVD:

7
# CNVD ID Chromosome 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

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

# Super pathways Score Top Affiliating Genes
1 10.12 IGFBP3 IGFBP1 IGF2

GO Terms for Silver-Russell Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 insulin receptor signaling pathway GO:0008286 9.43 IGFBP1 IGF2 GRB10
2 negative regulation of phosphorylation GO:0042326 9.32 GRB10 CDKN1C
3 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.16 IGFBP3 IGFBP1
4 embryonic placenta morphogenesis GO:0060669 8.96 IGF2 CDKN1C
5 regulation of gene expression by genetic imprinting GO:0006349 8.8 ZFP57 IGF2 CTCF

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor binding GO:0005520 9.26 IGFBP3 IGFBP1
2 insulin receptor binding GO:0005158 9.16 IGF2 GRB10
3 insulin-like growth factor I binding GO:0031994 8.96 IGFBP3 IGFBP1
4 insulin-like growth factor II binding GO:0031995 8.62 IGFBP3 IGFBP1

Sources for Silver-Russell Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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