SRS3
MCID: SLV028
MIFTS: 32

Silver-Russell Syndrome 3 (SRS3)

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

Aliases & Classifications for Silver-Russell Syndrome 3

MalaCards integrated aliases for Silver-Russell Syndrome 3:

Name: Silver-Russell Syndrome 3 57 73
Growth Restriction, Severe, with Distinctive Facies 57 73 29 6 39
Srs3 57 73
Grdf 57 73
Growth Restriction, Severe, with Distinctive Facies; Grdf 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability
clinical features present only if mutation inherited on paternal allele
body asymmetry is observed in some patients

Inheritance:
autosomal dominant (from paternal allele)


HPO:

31
silver-russell syndrome 3:
Inheritance autosomal dominant inheritance x-linked recessive inheritance


Classifications:



Summaries for Silver-Russell Syndrome 3

OMIM® : 57 Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860). (616489) (Updated 05-Mar-2021)

MalaCards based summary : Silver-Russell Syndrome 3, also known as growth restriction, severe, with distinctive facies, is related to melanoma and toxoplasmosis. An important gene associated with Silver-Russell Syndrome 3 is IGF2 (Insulin Like Growth Factor 2). The drugs Furosemide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are cryptorchidism and patent ductus arteriosus

UniProtKB/Swiss-Prot : 73 Silver-Russell syndrome 3: A form of 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. SRS3 inheritance is autosomal dominant.

Related Diseases for Silver-Russell Syndrome 3

Graphical network of the top 20 diseases related to Silver-Russell Syndrome 3:



Diseases related to Silver-Russell Syndrome 3

Symptoms & Phenotypes for Silver-Russell Syndrome 3

Human phenotypes related to Silver-Russell Syndrome 3:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 occasional (7.5%) HP:0000028
2 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
3 hypospadias 31 occasional (7.5%) HP:0000047
4 ambiguous genitalia 31 occasional (7.5%) HP:0000062
5 delayed skeletal maturation 31 HP:0002750
6 short stature 31 HP:0004322
7 feeding difficulties in infancy 31 HP:0008872
8 prominent forehead 31 HP:0011220
9 retrognathia 31 HP:0000278
10 low-set ears 31 HP:0000369
11 melanocytic nevus 31 HP:0000995
12 motor delay 31 HP:0001270
13 decreased body weight 31 HP:0004325
14 triangular face 31 HP:0000325
15 relative macrocephaly 31 HP:0004482
16 generalized hypotonia 31 HP:0001290
17 finger clinodactyly 31 HP:0040019
18 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Height:
short stature

Endocrine Features:
delayed puberty
normal or slightly elevated growth hormone levels
some patients respond to exogenous growth hormone
low serum igf2 levels
normal to high serum igf1 levels
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
persistent ductus arteriosus
ventricular septal defect, small

Skeletal Hands:
ectrodactyly
fifth-finger clinodactyly
absent 3rd through 5th digits

Head And Neck Head:
relative macrocephaly
late closure of fontanel

Cardiovascular Vascular:
pulmonary hypertension

Skeletal:
delayed bone age

Head And Neck Mouth:
cleft palate (in some patients)

Respiratory Lung:
respiratory distress in neonatal period

Skeletal Limbs:
contracture with pterygium at elbow (rare)

Prenatal Manifestations Amniotic Fluid:
oligohydramnion (in some patients)

Abdomen Gastrointestinal:
feeding difficulties in infancy

Head And Neck Face:
prominent forehead
triangular face
micrognathia or retrognathia

Head And Neck Ears:
low-set ears
bilateral preauricular fistulas

Genitourinary External Genitalia Male:
micropenis
hypospadias
ambiguous genitalia
penoscrotal transposition
hydrocele
more
Skeletal Feet:
ectrodactyly
syndactyly of 2nd-3rd toes
polydactyly (uncommon)

Neurologic Central Nervous System:
hypotonia
delayed motor development
low to low-normal intelligence (in some patients)

Skin Nails Hair Skin:
pigmented nevi

Growth Weight:
low weight

Skeletal Skull:
late closure of fontanel

Growth Other:
severe prenatal and postnatal growth restriction

Voice:
high-pitched voice in childhood

Prenatal Manifestations Placenta And Umbilical Cord:
placental hypoplasia

Clinical features from OMIM®:

616489 (Updated 05-Mar-2021)

Drugs & Therapeutics for Silver-Russell Syndrome 3

Drugs for Silver-Russell Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Furosemide Approved, Vet_approved Phase 1 54-31-9 3440
2 diuretics Phase 1
3 Ferrosoferric Oxide Phase 1
4 Sodium Potassium Chloride Symporter Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterisation of Gastric Residence of a Furosemide-containing New Gastric Retention System by Means of MMM Measurement and Determination of Pharmacokinetics, Pharmacodynamics and Safety Completed NCT01887379 Phase 1 GRDF furosemide

Search NIH Clinical Center for Silver-Russell Syndrome 3

Genetic Tests for Silver-Russell Syndrome 3

Genetic tests related to Silver-Russell Syndrome 3:

# Genetic test Affiliating Genes
1 Growth Restriction, Severe, with Distinctive Facies 29 IGF2

Anatomical Context for Silver-Russell Syndrome 3

MalaCards organs/tissues related to Silver-Russell Syndrome 3:

40
Bone

Publications for Silver-Russell Syndrome 3

Articles related to Silver-Russell Syndrome 3:

(show all 21)
# Title Authors PMID Year
1
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation. 57 6
30400067 2019
2
Silver Russel syndrome in an aboriginal patient from Australia. 57 6
30152198 2018
3
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly. 57 6
28489339 2017
4
De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient. 6 57
28848601 2017
5
Paternally Inherited IGF2 Mutation and Growth Restriction. 6 57
26154720 2015
6
Auxin signaling modulates LATERAL ROOT PRIMORDIUM1 (LRP1) expression during lateral root development in Arabidopsis. 61
31483536 2020
7
Fine mapping and discovery of candidate genes for seed size in watermelon by genome survey sequencing. 61
30552379 2018
8
An EMS-induced new sequence variant, TEMS5032, in the coding region of SRS3 gene leads to shorter grain length in rice (Oryza sativa L.). 61
30014258 2018
9
Structural characteristics and prebiotic effects of Semen coicis resistant starches (type 3) prepared by different methods. 61
28736040 2017
10
Production of refolded Toxoplasma gondii recombinant SAG1-related sequence 3 (SRS3) and its use for serodiagnosis of human toxoplasmosis. 61
28263855 2017
11
Identification of Toxoplasma gondii in-vivo induced antigens by cDNA library immunoscreening with chronic toxoplasmosis sera. 61
23044055 2013
12
Antagonistic actions of HLH/bHLH proteins are involved in grain length and weight in rice. 61
22363621 2012
13
An expanded, unified substrate recognition site map for mammalian cytochrome P450s: analysis of molecular interactions between 15 mammalian CYP450 isoforms and 868 substrates. 61
21740382 2011
14
A novel kinesin 13 protein regulating rice seed length. 61
20587735 2010
15
Class-dependent sequence alignment strategy improves the structural and functional modeling of P450s. 61
16777908 2006
16
Functionally redundant SHI family genes regulate Arabidopsis gynoecium development in a dose-dependent manner. 61
16740146 2006
17
New strontium polysulfides, SrS3, and Sr2(OH)2S4.10H2O, obtained by the high-pressure treatment of a Sr-S mixture. 61
15332831 2004
18
Identification of a sporozoite-specific member of the Toxoplasma SAG superfamily via genetic complementation. 61
15049813 2004
19
Identification of tumor-suppressor genes using human melanoma cell lines UACC903, UACC903(+6), and SRS3 by comparison of expression profiles. 61
10900469 2000
20
The surface of Toxoplasma tachyzoites is dominated by a family of glycosylphosphatidylinositol-anchored antigens related to SAG1. 61
9573113 1998
21
Dosimetric comparison of stereotactic radiosurgery to intensity modulated radiotherapy. 61
9503486 1998

Variations for Silver-Russell Syndrome 3

ClinVar genetic disease variations for Silver-Russell Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INS-IGF2 NM_000612.6(IGF2):c.23C>A (p.Ser8Ter) SNV Pathogenic 204491 rs869320620 11:2156731-2156731 11:2135501-2135501
2 INS-IGF2 NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs) Indel Pathogenic 917500 11:2156637-2156644 11:2135407-2135414
3 INS-IGF2 NM_000612.6(IGF2):c.101G>A (p.Gly34Asp) SNV Pathogenic 917501 11:2156653-2156653 11:2135423-2135423
4 INS-IGF2 NM_000612.6(IGF2):c.157+3A>C SNV Pathogenic 917502 11:2156594-2156594 11:2135364-2135364
5 INS-IGF2 NM_000612.6(IGF2):c.195del (p.Ile66fs) Deletion Pathogenic 917503 11:2154858-2154858 11:2133628-2133628
6 INS-IGF2 NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) SNV Likely pathogenic 976061 11:2156654-2156654 11:2135424-2135424
7 INS-IGF2 NM_000612.6(IGF2):c.27del (p.Met9fs) Deletion Uncertain significance 976226 11:2156727-2156727 11:2135497-2135497

Expression for Silver-Russell Syndrome 3

Search GEO for disease gene expression data for Silver-Russell Syndrome 3.

Pathways for Silver-Russell Syndrome 3

GO Terms for Silver-Russell Syndrome 3

Molecular functions related to Silver-Russell Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 INS-IGF2 IGF2

Sources for Silver-Russell Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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