MCID: SLV001
MIFTS: 50

Silver-Russell Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Silver-Russell Syndrome

About this section

Aliases & Descriptions for Silver-Russell Syndrome:

Name: Silver-Russell Syndrome 49 10 11 21 45 22 23 12 51 67 36
Russell-Silver Syndrome 21 45 22 23 67 24 65
Silver-Russell Dwarfism 45 23 51 67
 
Rss 23 67
Srs 23 67
Silver Russell Dwarfism 10

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61
silver-russell syndrome:
Inheritance: sporadic


Classifications:



External Ids:

OMIM49 180860
Disease Ontology10 DOID:14681
ICD1027 Q87.1
NCIt42 C85068
SNOMED-CT59 15069006
Orphanet51 813
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 D056730
UMLS via Orphanet66 C0175693
MedGen34 C0175693
UMLS65 C0175693

Summaries for Silver-Russell Syndrome

About this section
NIH Rare Diseases:45 Russell-silver syndrome (rss) is a congenital disorder that causes 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) due to feeding difficulties; a small, triangular face with distinctive facial features; 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. most cases are not inherited from a parent and occur sporadically. in rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner. last updated: 3/3/2016

MalaCards based summary: Silver-Russell Syndrome, also known as russell-silver syndrome, is related to silver-russell syndrome due to maternal uniparental disomy of chromosome 11 and silver-russell syndrome due to 7p11.2p13 microduplication, and has symptoms including triangular face, blue sclerae and intrauterine growth retardation. An important gene associated with Silver-Russell Syndrome is CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C), and among its related pathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include bone, kidney and heart.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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).

OMIM:49 Silver-Russell syndrome is a clinically heterogeneous condition characterized by severe intrauterine growth... (180860) more...

GeneReviews summary for NBK1324

Related Diseases for Silver-Russell Syndrome

About this section

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 187)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome due to maternal uniparental disomy of chromosome 1134.7H19, IGF2
2silver-russell syndrome due to 7p11.2p13 microduplication12.8
3chromosome 11p15.5-related russell-silver syndrome12.6
4chromosome 7-related russell-silver syndrome12.6
5silver-russell syndrome due to an imprinting defect of 11p1512.6
6silver-russell syndrome due to 11p15 microduplication12.6
7silver-russell syndrome due to a point mutation12.6
8silver-russell syndrome due to maternal uniparental disomy of chromosome 712.6
9partington syndrome11.8
10robinow-sorauf syndrome11.7
11muscular dystrophy, rigid spine, 111.6
12silver spastic paraplegia syndrome11.6
13diencephalic syndrome11.6
14spastic paraplegia 1711.6
15snyder-robinson syndrome11.5
16mental retardation, x-linked, snyder-robinson type11.3
17lymphoma10.6
18prostate cancer10.5
19hepatitis10.5
20leukemia10.5
21prostatitis10.5
22retinitis10.5
23endotheliitis10.5
24beckwith-wiedemann syndrome due to cdkn1c mutation10.5H19, IGF2
25ehlers-danlos/osteogenesis imperfecta syndrome10.5H19, IGF2
26myocardial infarction10.4
27systemic lupus erythematosus10.4
28hiv-110.4
29hepatocellular carcinoma10.4
30thalassemia10.4
31japanese encephalitis10.4
32cholera10.4
33melanoma10.4
34cervicitis10.4
35fibrosarcoma10.4
36pneumonia10.4
37influenza10.4
38neuropathy10.4
39lupus erythematosus10.4
40encephalitis10.4
41charcot-marie-tooth disease type 510.4GRB10, H19
42hernández-aguirre negrete syndrome10.4H19, H19-ICR, IGF2
43mesenchymoma10.4HMGA2, IGF2
44epithelioid trophoblastic tumor10.4CDKN1C, CSH1
45mastoiditis10.3CDKN1C, H19, IGF2
46familial cold autoinflammatory syndrome 210.3CDKN1C, H19
47neuroblastoma10.3
48colorectal cancer10.3
49malaria10.3
50lung cancer10.3

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



Diseases related to silver-russell syndrome

Symptoms for Silver-Russell Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

180860

Clinical features from OMIM:

180860

Symptoms:

 51 (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 42)
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 testicular seminoma HP:0100617
17 craniopharyngioma HP:0030062
18 congenital posterior urethral valve HP:0010957
19 craniofacial disproportion HP:0005461
20 short distal phalanx of the 5th finger HP:0004227
21 short middle phalanx of the 5th finger HP:0004220
22 clinodactyly of the 5th finger HP:0004209
23 fasting hypoglycemia HP:0003162
24 delayed skeletal maturation HP:0002750
25 downturned corners of mouth HP:0002714
26 nephroblastoma (wilms tumor) HP:0002667
27 frontal bossing HP:0002007
28 abnormality of the foot HP:0001760
29 abnormality of the cardiovascular system HP:0001626
30 small for gestational age HP:0001518
31 intrauterine growth retardation HP:0001511
32 hepatocellular carcinoma HP:0001402
33 global developmental delay HP:0001263
34 syndactyly HP:0001159
35 cafe-au-lait spot HP:0000957
36 growth hormone deficiency HP:0000824
37 blue sclerae HP:0000592
38 micrognathia HP:0000347
39 triangular face HP:0000325
40 delayed cranial suture closure HP:0000270
41 abnormality of the ureter HP:0000069
42 hypospadias HP:0000047

Drugs & Therapeutics for Silver-Russell Syndrome

About this section

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozoleapproved, investigational262120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
2Hormones11748
3Hormones, Hormone Substitutes, and Hormone Antagonists9988
4Hormone Antagonists10002
5Estrogen Antagonists1155
6Antineoplastic Agents, Hormonal4256
7Aromatase Inhibitors721
8Estrogens2144

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell SyndromesRecruitingNCT01842659
2Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi SyndromeActive, not recruitingNCT01520467

Search NIH Clinical Center for Silver-Russell Syndrome


Cochrane evidence based reviews: silver-russell syndrome

Genetic Tests for Silver-Russell Syndrome

About this section

Genetic tests related to Silver-Russell Syndrome:

id Genetic test Affiliating Genes
1 Russell-Silver Syndrome22 IGF2

Anatomical Context for Silver-Russell Syndrome

About this section

MalaCards organs/tissues related to Silver-Russell Syndrome:

33
Bone, Kidney, Heart, Endothelial, Brain, Breast, Lung

Animal Models for Silver-Russell Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Silver-Russell Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Silver-Russell Syndrome

About this section

Articles related to Silver-Russell Syndrome:

(show top 50)    (show all 206)
idTitleAuthorsYear
1
High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA. (25692052)
2015
2
Management Options and Outcomes for Neonatal Hypoplastic Left Heart Syndrome in the Early Twenty-First Century. (26541152)
2015
3
GATA-binding protein 3, gross cystic disease fluid protein-15 and mammaglobin have distinct prognostic implications in different invasive breast carcinoma subgroups. (25425335)
2015
4
The SORL1 polymorphism rs985421 may confer the risk for amnestic mild cognitive impairment and Alzheimer's disease in the Han Chinese population. (24486888)
2014
5
Interdigitating dendritic cell sarcoma presenting in the kidney combined with retroperitoneal leiomyosarcoma: A case report and literature review. (24396471)
2014
6
A hundred years of Hashimoto's thyroiditis. (23398159)
2013
7
miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease. (23759744)
2013
8
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. (24036223)
2013
9
Impact of screening colonoscopy on outcomes in colon cancer surgery. (23784448)
2013
10
Autologous or Reduced-Intensity Conditioning Allogeneic Hematopoietic Cell Transplantation for Chemotherapy-Sensitive Mantle-Cell Lymphoma: Analysis of Transplantation Timing and Modality. (24344210)
2013
11
A Tale of Two Maladies? Pathogenesis of Depression with and without the Huntington's Disease Gene Mutation. (23847583)
2013
12
Predictive value of [(18)F]fluoro-2-deoxy-d-glucose positron emission tomography for clinical outcome in patients with relapsed/refractory diffuse large B-cell lymphoma prior to and after autologous stem cell transplant. (23617323)
2013
13
Drug-induced pemphigus after six years of treatment with phenytoin and carbamazepine. (22320341)
2012
14
Effects of anti-tumor necrosis factor agents for familial mediterranean fever patients with chronic arthritis and/or sacroiliitis who were resistant to colchicine treatment. (21946459)
2011
15
Endometrial metastasis of colorectal cancer with coincident endometrial adenocarcinoma. (22791861)
2010
16
Measures of ovarian function in galactosemia. (19646597)
2009
17
KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. (19358724)
2009
18
Group I metabotropic glutamate receptors control metaplasticity of spinal cord learning through a protein kinase C-dependent mechanism. (19005059)
2008
19
Altered structure and deregulated expression of the tumor suppressor gene retinoblastoma (RB1) in human brain tumors. (17318405)
2007
20
Lysophosphatidic acid (LPA)-induced vascular endothelial growth factor (VEGF) by mesothelial cells and quantification of host-derived VEGF in malignant ascites. (16171822)
2006
21
Chemokines and chemokine receptors in HIV infection: role in pathogenesis and therapeutics. (16855325)
2006
22
Immunohistochemical expression of cyclooxygenase 2 in follicular carcinomas of the thyroid. (15913419)
2005
23
A Caenorhabditis elegans Parkin mutant with altered solubility couples alpha-synuclein aggregation to proteotoxic stress. (16204351)
2005
24
Steric effect on the nuclease activity of Cu(II) complexes with aminoquinoline derivatives. (15919117)
2005
25
Neurochemical bases of plasticity in the magnocellular oxytocin system during gestation. (16157332)
2005
26
The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians. (14728987)
2004
27
Metastatic seminoma with cervical lymphadenopathy as the initial manifestation. (15195884)
2004
28
Regulation of cell cycle proteins by chemokine receptors: A novel pathway in human immunodeficiency virus neuropathogenesis? (14982748)
2004
29
Human ortholog to mouse gene imap38 encoding an ER-localizable G- protein belongs to a gene family clustered on chromosome 7q32-36. (11814688)
2002
30
Impairment in hippocampal long-term potentiation in mice under-expressing the Alzheimer's disease related gene presenilin-1. (11814648)
2002
31
Atypical inflammation in the central nervous system in prion disease. (12045736)
2002
32
Relationship between endothelin-1 extraction in the peripheral circulation and systemic vascular resistance in patients with severe congestive heart failure. (9973035)
1999
33
How is the mutational status for tumor suppressors p53 and p16(INK4A) in MFH of the bone? (9489481)
1998
34
Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain. (9620803)
1998
35
Cocaine increases the endothelial release of immunoreactive endothelin and its concentrations in human plasma and urine: reversal by coincubation with sigma-receptor antagonists. (9714087)
1998
36
Overexpression of human nucleolar proteins in insect cells: characterization of nucleolar protein p120. (8812864)
1996
37
The clinical role of immunoscintigraphy for the detection of ocular melanoma. (9050338)
1996
38
Increased kynurenic acid levels and decreased brain kynurenine aminotransferase I in patients with Down syndrome. (8637415)
1996
39
The effect of interleukin-2 on suppressor T lymphocytes in autoimmune thyroid disease. (7788961)
1995
40
Determination of the side chain pKa values of the lysine residues in calmodulin. (8226750)
1993
41
erbB-3, a third member of the erbB/epidermal growth factor receptor gene family: its expression in head and neck cancer cell lines. (8286103)
1993
42
Primary congenital rhabdoid tumor of the brain with neoplastic hydranencephaly. (8397069)
1993
43
Angiomatosis with luminal cryoprotein deposition. (1479103)
1992
44
Evidence for transforming growth factor-beta expression in human leptomeningeal cells and transforming growth factor-beta-like activity in human cerebrospinal fluid. (1328762)
1992
45
Tethered cord syndrome complicating spina bifida occulta. A case report. (1878181)
1991
46
Alpha 2-macroglobulin restricts plasminogen activation to the surface of RC2A leukemia cells. (1724917)
1991
47
Ultrastructural localization of prolactin and chromogranin B messenger ribonucleic acids with biotinylated oligonucleotide probes in cultured pituitary cells. (2395335)
1990
48
Blue toe syndrome: treatment with anticoagulants and delayed percutaneous transluminal angioplasty. (2962224)
1988
49
Osteonectin, a bone-specific protein linking mineral to collagen. (7034958)
1981
50
Progressive adhesive arachnoiditis following spinal anesthesia. (14870035)
1951

Variations for Silver-Russell Syndrome

About this section

Expression for genes affiliated with Silver-Russell Syndrome

About this section
Search GEO for disease gene expression data for Silver-Russell Syndrome.

Pathways for genes affiliated with Silver-Russell Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
110.0IGF2, IGFBP1

GO Terms for genes affiliated with Silver-Russell Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphorylationGO:004232610.1CDKN1C, GRB10

Sources for Silver-Russell Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet