RSS
MCID: SLV001
MIFTS: 65

Silver-Russell Syndrome (RSS) malady

Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases categories
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Summaries for Silver-Russell Syndrome

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NIH Rare Diseases:42 Russell-silver syndrome is a condition present at birth that involves poor growth, low birth weight, short height, and size differences (asymmetry) of parts of the body. other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) as a result of feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly; digestive system abnormalities; delayed development; and/or learning disabilities. the genetic causes of this syndrome are complex and relate to certain genes that control growth. most cases are not inherited from an affected parent, but occur sporadically (i.e., by chance). in some cases, it is inherited in an autosomal dominant or autosomal recessive manner. last updated: 2/11/2014

MalaCards based summary: Silver-Russell Syndrome, also known as russell-silver syndrome, is related to growth hormone deficiency and beckwith-wiedemann syndrome, and has symptoms including triangular face, blue sclerae and downturned mouth. An important gene associated with Silver-Russell Syndrome is RSS (Russell Silver syndrome), and among its related pathways are Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Endochondral Ossification. The compounds nap-2 and apai have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and testes, and related mouse phenotypes are embryogenesis and mortality/aging.

Genetics Home Reference:21 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 low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected males is about 151 centimeters (4 feet, 11 inches) and the average height for affected females is about 140 centimeters (4 feet, 7 inches).

Descriptions from OMIM:46 180860,312780

GeneReviews summary for rss

Aliases & Classifications for Silver-Russell Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
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Silver-Russell Syndrome, Aliases & Descriptions:

Name: Silver-Russell Syndrome 8 9 19 42 21 46 10 48
Russell-Silver Syndrome 19 42 20 22 21 62
Silver-Russell Dwarfism 42 21 48
 
Silver Russell Dwarfism 8
Rss 21
Srs 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
silver-russell syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:14681
NCIt39 C85068
MeSH34 D056730
SNOMED-CT57 15069006
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0175693
MESH via Orphanet35 D056730

Related Diseases for Silver-Russell Syndrome

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Diseases in the Silver-Russell Syndrome family:

Silver-Russell Syndrome Due to 7p11.2p13 Microduplication Silver-Russell Syndrome Due to Imprinting Defect of 11p15
Silver-Russell Syndrome Due to 11p15 Microduplication 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/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency30.8IGF2, IGFBP1
2beckwith-wiedemann syndrome30.6CDKN1C, GRB10, H19, ZFP57, IGF2
3hemihypertrophy30.6H19, IGF2, CDKN1C
4acromegaly30.4IGF2, IGFBP1
5adrenocortical carcinoma30.1CDKN1C, H19, IGF2
6adenoma29.5CDKN1C, IGF2, H19, IGFBP1
7osteosarcoma29.4IGFBP1, IGF2, H19
8lung cancer29.4IGF2, IGFBP1, H19, CDKN1C
9silver-russell syndrome due to 7p11.2p13 microduplication10.6
10wilms tumor 210.5H19
11partington syndrome10.4
12chromosome 11p15.5-related russell-silver syndrome10.4
13chromosome 7-related russell-silver syndrome10.4
14silver-russell syndrome due to imprinting defect of 11p1510.4
15silver-russell syndrome due to 11p15 microduplication10.4
16silver-russell syndrome due to maternal uniparental disomy of chromosome 1110.4
17silver-russell syndrome due to a point mutation10.4
18silver-russell syndrome due to maternal uniparental disomy of chromosome 710.4
19hepatitis10.4
20embryonal cancer10.4H19, IGF2
21atherosclerosis10.3
22hypertension10.3
23embryonal rhabdomyosarcoma10.3IGF2, H19
24omphalocele10.3CDKN1C, IGF2
25hiv-110.3
26endotheliitis10.3
27cystic fibrosis10.2
28dilated cardiomyopathy10.2
29renal tubular acidosis10.2
30down syndrome10.2
31juvenile pilocytic astrocytoma10.2
32lichen nitidus10.2
33hirschsprung's disease10.2
34cryptorchidism10.2
35astrocytoma10.2
36craniopharyngioma10.2
37dystonia10.2
38hypopituitarism10.2
39learning disability10.2
403-m syndrome10.2
41myoclonus-dystonia10.2
42horseshoe kidney10.2
43mayer-rokitansky-kuster-hauser syndrome10.2
44mosaic trisomy 710.2
45pilocytic astrocytoma10.2
46ring chromosome 1510.2
47ring chromosome 710.2
48silvery hair syndrome10.2
49spastic paraplegia 1710.2
50uniparental disomy of chromosome 1110.2

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



Diseases related to silver-russell syndrome

Symptoms for Silver-Russell Syndrome

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Symptoms by clinical synopsis from OMIM:

180860

Clinical features from OMIM:

180860,312780

Symptoms:

48 (show all 16)
  • triangular face
  • blue sclerae
  • downturned mouth
  • clinodactyly of fifth finger
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • thin/retracted lips
  • hypoglycemia
  • delayed bone age
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • structural anomalies of the cardio-circulatory system
  • structural anomalies of the kidney and the urinary tract
  • precocious puberty
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Silver-Russell Syndrome:

(show all 43)
id Description Frequency HPO Source Accession
1 triangular face hallmark (90%) HP:0000325
2 blue sclerae hallmark (90%) HP:0000592
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 downturned corners of mouth hallmark (90%) HP:0002714
5 clinodactyly of the 5th finger hallmark (90%) HP:0004209
6 short stature hallmark (90%) HP:0004322
7 decreased body weight hallmark (90%) HP:0004325
8 thin vermilion border typical (50%) HP:0000233
9 hypoglycemia typical (50%) HP:0001943
10 delayed skeletal maturation typical (50%) HP:0002750
11 asymmetric growth typical (50%) HP:0100555
12 abnormality of the urinary system occasional (7.5%) HP:0000079
13 precocious puberty occasional (7.5%) HP:0000826
14 abnormality of the cardiovascular system occasional (7.5%) HP:0001626
15 cognitive impairment occasional (7.5%) HP:0100543
16 hypospadias HP:0000047
17 abnormality of the ureter HP:0000069
18 delayed cranial suture closure HP:0000270
19 triangular face HP:0000325
20 micrognathia HP:0000347
21 blue sclerae HP:0000592
22 growth hormone deficiency HP:0000824
23 cafe-au-lait spot HP:0000957
24 syndactyly HP:0001159
25 global developmental delay HP:0001263
26 hepatocellular carcinoma HP:0001402
27 intrauterine growth retardation HP:0001511
28 small for gestational age HP:0001518
29 abnormality of the cardiovascular system HP:0001626
30 abnormality of the foot HP:0001760
31 frontal bossing HP:0002007
32 nephroblastoma (wilms tumor) HP:0002667
33 downturned corners of mouth HP:0002714
34 delayed skeletal maturation HP:0002750
35 fasting hypoglycemia HP:0003162
36 sporadic HP:0003745
37 clinodactyly of the 5th finger HP:0004209
38 short middle phalanx of the 5th finger HP:0004220
39 short distal phalanx of the 5th finger HP:0004227
40 craniofacial disproportion HP:0005461
41 congenital posterior urethral valve HP:0010957
42 craniopharyngioma HP:0030062
43 testicular seminoma HP:0100617

Drugs & Therapeutics for Silver-Russell Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Silver-Russell Syndrome

Genetic Tests for Silver-Russell Syndrome

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Genetic tests related to Silver-Russell Syndrome:

id Genetic test Affiliating Genes
1 Russell-Silver Syndrome20 22 IGF2

Anatomical Context for Silver-Russell Syndrome

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MalaCards organs/tissues related to Silver-Russell Syndrome:

32
Bone, Kidney, Testes, Cerebellum, Heart, Placenta, Pituitary

Animal Models for Silver-Russell Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Silver-Russell Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4CDKN1C, GRB10, H19, MEST, IGF2
2MP:00107686.9CDKN1C, IGF2, MBD3, GRB10, H19, MEST
3MP:00053846.6H19, IGF2, IGFBP1, ZFP57, MEST, GRB10

Publications for Silver-Russell Syndrome

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Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 191)
idTitleAuthorsYear
1
Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome - a Chinese experience. (24945423)
2014
2
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome. (24550760)
2014
3
Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome. (24664587)
2014
4
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. (24051620)
2013
5
Clinical spectrum of Silver - Russell syndrome. (24124306)
2013
6
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. (23237735)
2013
7
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. (23565409)
2012
8
Mosaic upd(7)mat in a patient with Silver-Russell syndrome. (22246578)
2012
9
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features. (22211632)
2012
10
First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients. (23429302)
2012
11
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7. (21752678)
2012
12
What is the evidence for causal epigenetic influences on the Silver-Russell syndrome phenotype? (22126241)
2011
13
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. (21278389)
2011
14
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. (20101688)
2010
15
IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome. (21234390)
2010
16
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver-Russell syndrome. (20004753)
2010
17
Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS. (20431273)
2010
18
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. (19364767)
2009
19
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations. (19632365)
2009
20
Epigenetic regulation of growth: lessons from Silver-Russell syndrome. (19293571)
2009
21
A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris. (18359747)
2008
22
Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. (18655849)
2008
23
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. (18709478)
2008
24
Are H19 variants associated with Silver-Russell syndrome? (19209620)
2008
25
Supratentorial juvenile pilocytic astrocytoma in a young adult with Silver-Russell syndrome. (18661310)
2008
26
Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients. (17056291)
2007
27
Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome. (17551927)
2007
28
Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. (17450433)
2007
29
IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. (16940449)
2006
30
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. (15915162)
2005
31
Is maternal duplication of 11p15 associated with Silver-Russell syndrome? (15863658)
2005
32
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. (16086014)
2005
33
Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome. (15050880)
2004
34
Genomic characterisation of C7orf10 in Silver-Russell syndrome patients. (12676917)
2003
35
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome. (12387515)
2002
36
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. (12384779)
2002
37
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. (11313740)
2001
38
IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome. (11359473)
2001
39
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. (11754049)
2001
40
Distraction osteogenesis in Silver Russell syndrome to expand the mandible. (10393577)
1999
41
Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. (10434128)
1999
42
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. (9733042)
1998
43
Silver-Russell syndrome and exclusion of uniparental disomy. (9147881)
1996
44
Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). (8891553)
1996
45
Renal tubular acidosis in the Silver-Russell syndrome. (7625441)
1995
46
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. (7515753)
1994
47
Auxology and response to growth hormone treatment of patients with intrauterine growth retardation or Silver-Russell syndrome: analysis of data from the Kabi Pharmacia International Growth Study. International Board of the Kabi Pharmacia International Growth Study. (8219482)
1993
48
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13) (1633648)
1992
49
Cleft hand in Silver-Russell syndrome. (3385298)
1988
50
The Silver-Russell syndrome. (888698)
1977

Variations for Silver-Russell Syndrome

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Expression for genes affiliated with Silver-Russell Syndrome

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Expression patterns in normal tissues for genes affiliated with Silver-Russell Syndrome

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Pathways for genes affiliated with Silver-Russell Syndrome

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Pathways related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6IGFBP1, IGF2
29.5CDKN1C, IGF2

Compounds for genes affiliated with Silver-Russell Syndrome

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Compounds related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1nap-24410.1IGF2, H19
2apai4410.1H19, IGF2
3pegvisomant44 1110.9IGFBP1, IGF2
4anastrozole44 50 1111.8IGF2, IGFBP1
5levonorgestrel44 61 28 1112.8IGFBP1, IGF2
6dehydroepiandrosterone sulfate449.7IGFBP1, IGF2
7progestins449.6IGF2, IGFBP1
8c-peptide449.6IGFBP1, IGF2
9rsai449.6H19, IGFBP1, IGF2
102-deoxyglucose44 1110.5IGFBP1, IGF2
11ribonucleic acid449.5H19, IGFBP1, IGF2
125-aza-2deoxycytidine449.5CDKN1C, H19, IGF2
13octreotide44 61 28 1112.3IGFBP1, IGF2
14acth449.0CDKN1C, H19, IGFBP1, IGF2

GO Terms for genes affiliated with Silver-Russell Syndrome

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Biological processes related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of gene expression by genetic imprintingGO:0063499.6ZFP57, IGF2
2negative regulation of phosphorylationGO:0423269.4CDKN1C, GRB10
3insulin receptor signaling pathwayGO:0082869.2GRB10, IGFBP1, IGF2
4histone acetylationGO:0165738.8MBD3, CPA4

Molecular functions related to Silver-Russell Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:0051589.7GRB10, IGF2

Products for genes affiliated with Silver-Russell Syndrome

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Sources for Silver-Russell Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet