SRS1
MCID: SLV027
MIFTS: 53

Silver-Russell Syndrome 1 (SRS1)

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

Aliases & Classifications for Silver-Russell Syndrome 1

MalaCards integrated aliases for Silver-Russell Syndrome 1:

Name: Silver-Russell Syndrome 1 56
Silver-Russell Syndrome 12 74 24 52 25 58 73 13 43 15 39
Russell-Silver Syndrome 56 24 52 25 73 36 29 6
Silver-Russell Dwarfism 56 52 25 58 73
Rss 56 25 73
Srs 25 73
Russell-Silver Syndrome; Rss 56
Silver Russell Dwarfism 12
Russell Silver Syndrome 52
Silver Russell Syndrome 52
Srs1 56

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 1:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Silver-Russell Syndrome 1

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 1, also known as silver-russell syndrome, is related to silver-russell syndrome due to an imprinting defect of 11p15 and silver-russell syndrome due to a point mutation. An important gene associated with Silver-Russell Syndrome 1 is IGF2 (Insulin Like Growth Factor 2). The drugs Anastrozole and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and eye, and related phenotypes are short stature and prominent forehead

Disease Ontology : 12 A physical disorder that is 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.

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-1 (SRS1) 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, is a rare congenital growth... more...

GeneReviews: NBK1324

Related Diseases for Silver-Russell Syndrome 1

Diseases in the Silver-Russell Syndrome 1 family:

Silver-Russell Syndrome 3 Silver-Russell Syndrome 2
Silver-Russell Syndrome 4 Silver-Russell Syndrome 5
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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 615)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to an imprinting defect of 11p15 34.9 IGF2 H19
2 silver-russell syndrome due to a point mutation 34.8 IGF2 CDKN1C
3 silver-russell syndrome due to 11p15 microduplication 34.8 IGF2 H19
4 spastic paraplegia 17, autosomal dominant 33.0 TGM1 MEST KCNQ1OT1 IGF2 GRB10 CDKN1C
5 maternal uniparental disomy 31.5 MEST H19-ICR
6 wilms tumor 5 31.3 IGF2 H19 CDKN1C
7 hemihyperplasia, isolated 31.2 KCNQ1OT1 IGF2 H19 CDKN1C
8 prader-willi syndrome 30.6 WDR20 SNRPN MEST KCNQ1OT1 IGF2 H2AC18
9 adrenocortical carcinoma, hereditary 30.6 MIR483 IGF2 H19
10 neonatal diabetes mellitus 30.4 ZFP57 WDR20 SNRPN PLAGL1 MEST KCNQ1OT1
11 adrenal cortical carcinoma 30.4 MIR483 IGF2 CDKN1C
12 transient neonatal diabetes mellitus 30.4 ZFP57 WDR20 SNRPN PLAGL1 MEST KCNQ1OT1
13 choriocarcinoma 30.3 IGF2 H19 CDKN1C
14 temple syndrome 30.1 WDR20 UROD SNRPN PLAGL1 MEST KCNQ1OT1
15 beckwith-wiedemann syndrome 30.1 ZFP57 WT2 WDR20 UROD TGM1 SNRPN
16 russell-silver syndrome, x-linked 12.7
17 silver-russell syndrome due to 7p11.2p13 microduplication 12.7
18 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.5
19 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.5
20 rigid spine muscular dystrophy 1 12.1
21 mental retardation, x-linked, syndromic, snyder-robinson type 12.0
22 syndromic x-linked intellectual disability snyder type 12.0
23 robinow-sorauf syndrome 11.9
24 diencephalic syndrome 11.8
25 partington x-linked mental retardation syndrome 11.8
26 schilbach-rott syndrome 11.5
27 spastic paraplegia 17 11.5
28 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 11.2
29 silver-russell syndrome 3 11.2
30 silver-russell syndrome 2 11.2
31 silver-russell syndrome 4 11.2
32 silver-russell syndrome 5 11.2
33 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.6 KCNQ1OT1 IGF2 H19
34 wilms tumor 2 10.6 WT2 H19-ICR H19
35 pax6-related aniridia 10.6 IGF2 H19
36 salivary gland adenoma, pleomorphic 10.6 PLAG1 HMGA2
37 trophoblastic neoplasm 10.6 PLAGL1 H19 CDKN1C
38 adrenal cortex disease 10.6 MIR483 IGF2 CDKN1C
39 adrenal cortical adenoma 10.6 MIR483 IGF2 CDKN1C
40 cicatricial ectropion 10.6 UROD TGM1
41 diabetes mellitus, 6q24-related transient neonatal 10.6 ZFP57 PLAGL1
42 omphalocele 10.6 KCNQ1OT1 IGF2 CDKN1C
43 adult syndrome 10.6 WDR20 IGF2 H2AC18
44 hepatoblastoma 10.6 PLAG1 IGF2 H19 CDKN1C
45 gastrointestinal system benign neoplasm 10.6 PLAG1 MIR483 IGF2 H2AC18
46 chondroid lipoma 10.6 PLAG1 HMGA2
47 adrenal adenoma 10.6 MIR483 IGF2 CDKN1C
48 diabetes mellitus, transient neonatal, 1 10.5 ZFP57 PLAGL1
49 gestational trophoblastic neoplasm 10.5 ZFP57 PLAGL1 H19 CDKN1C
50 vulvar leiomyoma 10.5 PLAG1 HMGA2

Graphical network of the top 20 diseases related to Silver-Russell Syndrome 1:



Diseases related to Silver-Russell Syndrome 1

Symptoms & Phenotypes for Silver-Russell Syndrome 1

Human phenotypes related to Silver-Russell Syndrome 1:

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 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
3 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
4 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
7 blue sclerae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000592
8 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
9 relative macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004482
10 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
11 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
12 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
13 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
14 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
15 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
16 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
17 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
18 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
19 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
20 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
21 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
22 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
23 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
24 high pitched voice 58 31 frequent (33%) Frequent (79-30%) HP:0001620
25 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
26 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
27 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
28 lower limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100559
29 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
30 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
31 recurrent hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001988
32 abnormality of the calcaneus 58 31 frequent (33%) Frequent (79-30%) HP:0008364
33 premature adrenarche 58 31 frequent (33%) Frequent (79-30%) HP:0012412
34 upper limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100560
35 shoulder dimple 31 frequent (33%) HP:0010782
36 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
37 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
38 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
39 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
40 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
41 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
42 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
43 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
44 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
45 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
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 global developmental delay 31 HP:0001263
50 frontal bossing 31 HP:0002007

Symptoms via clinical synopsis from OMIM:

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

Head And Neck Mouth:
downturned corners of mouth

Neoplasia:
hepatocellular carcinoma
testicular seminoma
craniopharyngioma
wilms tumor

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

Genitourinary External Genitalia Male:
hypospadias

Endocrine Features:
fasting hypoglycemia
growth hormone deficiency in some individuals

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 1

Drugs for Silver-Russell Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational 120511-73-1 2187
2
Hydrocortisone Approved, Vet_approved 50-23-7 5754
3
Hydrocortisone acetate Approved, Vet_approved 50-03-3
4
Fludrocortisone Approved, Investigational 127-31-1 31378
5 Antineoplastic Agents, Hormonal
6 Hormone Antagonists
7 Hormones
8 Estrogen Antagonists
9 Estrogen Receptor Antagonists
10 Estrogens
11 Aromatase Inhibitors
12 Hydrocortisone 17-butyrate 21-propionate
13 Hydrocortisone hemisuccinate

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
5 A Multicentre Concealed‐Allocation Multi-arms Blinded Randomized Controlled Trial to Identify the Best Sepsis Population for Corticotherapy Recruiting NCT04280497 Administration procedures

Search NIH Clinical Center for Silver-Russell Syndrome 1

Cochrane evidence based reviews: silver-russell syndrome

Genetic Tests for Silver-Russell Syndrome 1

Genetic tests related to Silver-Russell Syndrome 1:

# Genetic test Affiliating Genes
1 Russell-Silver Syndrome 29 H19-ICR IGF2

Anatomical Context for Silver-Russell Syndrome 1

MalaCards organs/tissues related to Silver-Russell Syndrome 1:

40
Testes, Bone, Eye, Placenta, Brain, Cerebellum, Heart

Publications for Silver-Russell Syndrome 1

Articles related to Silver-Russell Syndrome 1:

(show top 50) (show all 524)
# 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. 56 24 61
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 56 24
18230663 2008
4
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. 24 56 61
16963484 2007
5
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. 24 56 61
16086014 2005
6
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. 24 56 61
10544228 1999
7
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. 56 24
17504900 2007
8
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
9
The genetic aetiology of Silver-Russell syndrome. 56 61
18156438 2008
10
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. 56 61
16236811 2006
11
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. 56 61
16532391 2006
12
Two sisters with Silver-Russell phenotype. 61 56
15523618 2004
13
Silver-Russell Syndrome 6 61
20301499 2002
14
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. 61 56
9733042 1998
15
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. 56 61
9359045 1997
16
Maternal uniparental disomy 7 in Silver-Russell syndrome. 61 56
9032641 1997
17
Autosomal recessive Silver-Russell syndrome. 61 56
1285272 1992
18
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13) 61 56
1633648 1992
19
Three-generation dominant transmission of the Silver-Russell syndrome. 61 56
2178417 1990
20
Severe Silver-Russell syndrome. 56 61
2746617 1989
21
Silver-Russell syndrome. A family with symmetric and asymmetric siblings. 56 61
6894081 1981
22
Silver-Russell syndrome. Observations in 20 patients. 56 61
521296 1979
23
Phenotypic and genetic analysis of the silver-Russell syndrome. 56 61
639337 1978
24
The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. 61 56
168551 1975
25
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 24 61
31186545 2019
26
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 61 24
29659920 2018
27
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. 61 24
29250858 2018
28
Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome. 24 61
28806298 2018
29
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. 61 24
28796236 2018
30
Diagnosis and management of Silver-Russell syndrome: first international consensus statement. 61 24
27585961 2017
31
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. 61 24
28770003 2017
32
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome. 61 24
27701793 2017
33
Silver-Russell syndrome in Hong Kong. 61 24
27468965 2016
34
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. 24 61
27150791 2016
35
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? 24 61
27007691 2016
36
Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features. 24 61
26663145 2016
37
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. 61 24
26969265 2016
38
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. 61 24
25951829 2015
39
Paternally Inherited IGF2 Mutation and Growth Restriction. 24 61
26154720 2015
40
Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome. 24 61
25418154 2015
41
Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome. 24 61
25700540 2015
42
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome. 24 61
23401077 2013
43
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. 61 24
23533668 2013
44
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. 61 24
24051620 2013
45
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features. 24 61
22211632 2012
46
Clinical utility gene card for: Silver-Russell syndrome. 61 24
21150879 2011
47
Epigenotype-phenotype correlations in Silver-Russell syndrome. 61 24
20685669 2010
48
Epigenetic signatures of Silver-Russell syndrome. 61 24
20305090 2010
49
Methylation profiling in individuals with Russell-Silver syndrome. 56
20082469 2010
50
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. 56
19755383 2009

Variations for Silver-Russell Syndrome 1

ClinVar genetic disease variations for Silver-Russell Syndrome 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 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
2 CDKN1C NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)SNV Pathogenic 192361 rs318240750 11:2905349-2905349 11:2884119-2884119
3 PLAG1 NM_002655.3(PLAG1):c.1363del (p.Gln455fs)deletion Pathogenic 253033 rs1114167318 8:57078942-57078942 8:56166383-56166383
4 HMGA2 NM_003483.4(HMGA2):c.193C>T (p.Gln65Ter)SNV Pathogenic 253034 rs1114167319 12:66221862-66221862 12:65828082-65828082
5 HMGA2 NM_003483.4(HMGA2):c.189del (p.Ala64fs)deletion Pathogenic 253035 rs1114167320 12:66221858-66221858 12:65828078-65828078
6 IGF2 NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)SNV Pathogenic 253036 rs1064794050 11:2156676-2156676 11:2135446-2135446
7 PLAG1 NM_002655.3(PLAG1):c.439del (p.Ser147fs)deletion Pathogenic 253204 rs1114167317 8:57079866-57079866 8:56167307-56167307
8 IGF2 NM_000612.6(IGF2):c.157+1_157+2insGCinsertion Pathogenic 253298 rs1114167321 11:2156595-2156596 11:2135365-2135366

Copy number variations for Silver-Russell Syndrome 1 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 1

Search GEO for disease gene expression data for Silver-Russell Syndrome 1.

Pathways for Silver-Russell Syndrome 1

GO Terms for Silver-Russell Syndrome 1

Biological processes related to Silver-Russell Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of phosphorylation GO:0042326 8.96 CDKN1C GRB10
2 regulation of gene expression by genetic imprinting GO:0006349 8.8 CTCF IGF2 ZFP57

Sources for Silver-Russell Syndrome 1

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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