Page last updated: 2024-09-27

Russell Silver Syndrome

Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.

Synonyms(5)

Synonym
Russell-Silver Syndrome
Silver-Russell Syndrome
Silver Russell Dwarfism
Silver-Russell Dwarfism
Russell Silver Syndrome

Research

Studies (18)

TimeframeStudies, This Condition (%)All Conditions %
pre-19903 (16.67)23.3326
1990's0 (0.00)12.5806
2000's2 (11.11)18.1394
2010's9 (50.00)28.8240
2020's4 (22.22)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycerol0low10
sulfites0low30
cyproheptadine0low10
dehydroepiandrosterone0low10
lysine0low10
azacitidine0low10
silver0low40
hydrogen sulfite0low20
isomethyleugenol0low10
sodium bisulfite0low10

Protein Targets (295)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, 2-oxoglutarate Oxygenase2002
GLI family zinc finger 36006
AR protein7007
nuclear receptor subfamily 1, group I, member 34004
glucocorticoid receptor [Homo sapiens]5005
retinoid X nuclear receptor alpha5005
pregnane X nuclear receptor4004
cystic fibrosis transmembrane conductance regulator0101
DNA polymerase beta1001
short transient receptor potential channel 6 isoform 10011
Solute carrier family 22 member 1 0202
ATP-binding cassette sub-family C member 30303
Multidrug resistance-associated protein 40303
5-hydroxytryptamine receptor 40404
Bile salt export pump0404
Muscarinic acetylcholine receptor M20418
Muscarinic acetylcholine receptor M40417
Muscarinic acetylcholine receptor M10316
Muscarinic acetylcholine receptor M30316
Muscarinic acetylcholine receptor M40316
Muscarinic acetylcholine receptor M50316
Muscarinic acetylcholine receptor M50417
Muscarinic acetylcholine receptor M20317
Muscarinic acetylcholine receptor M10418
Muscarinic acetylcholine receptor M10001
Muscarinic acetylcholine receptor M30417
Alpha-1D adrenergic receptor0404
5-hydroxytryptamine receptor 2C0404
Muscarinic acetylcholine receptor M40101
Histamine H2 receptor1002
5-hydroxytryptamine receptor 70101
Reverse transcriptase/RNaseH 0001
Muscarinic acetylcholine receptor0112
Canalicular multispecific organic anion transporter 10303
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain A, Beta-lactamase3003
interleukin 81001
glp-1 receptor, partial1001
pregnane X receptor2002
RAR-related orphan receptor gamma4004
ATAD5 protein, partial2002
Fumarate hydratase2002
NFKB1 protein, partial1001
PPM1D protein2002
TDP1 protein5005
Thrombopoietin1001
Smad31001
aldehyde dehydrogenase 1 family, member A15005
estrogen receptor 2 (ER beta)3003
progesterone receptor2002
cytochrome P450 family 3 subfamily A polypeptide 43003
retinoic acid nuclear receptor alpha variant 15005
estrogen-related nuclear receptor alpha5005
farnesoid X nuclear receptor4004
estrogen nuclear receptor alpha5005
polyprotein2002
67.9K protein1001
Parkin2002
peroxisome proliferator-activated receptor delta4004
peroxisome proliferator activated receptor gamma3003
vitamin D (1,25- dihydroxyvitamin D3) receptor4004
arylsulfatase A1001
IDH12002
euchromatic histone-lysine N-methyltransferase 25005
aryl hydrocarbon receptor3003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
thyroid stimulating hormone receptor3003
activating transcription factor 63003
Bloom syndrome protein isoform 12002
peripheral myelin protein 22 isoform 11001
hemoglobin subunit beta1001
cellular tumor antigen p53 isoform a2002
chromobox protein homolog 15005
thyroid hormone receptor beta isoform 25005
huntingtin isoform 22002
ras-related protein Rab-9A1001
serine/threonine-protein kinase mTOR isoform 12002
nuclear factor erythroid 2-related factor 2 isoform 14004
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin4004
peripheral myelin protein 224004
histone acetyltransferase KAT2A isoform 13003
muscarinic acetylcholine receptor M13003
lamin isoform A-delta103003
Interferon beta3003
Cellular tumor antigen p534004
Integrin beta-31001
Integrin alpha-IIb1001
Adenosine receptor A30303
DNA (cytosine-5)-methyltransferase 10101
Adenosine receptor A2a0101
Adenosine receptor A10101
D(1A) dopamine receptor1001
Nuclear receptor ROR-gamma1113
Spike glycoprotein2002
Multidrug and toxin extrusion protein 10202
Histone-lysine N-methyltransferase EHMT20101
ATPase family AAA domain-containing protein 52002
Ataxin-23003
ATP-dependent phosphofructokinase2002
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
phosphopantetheinyl transferase2002
thyroid stimulating hormone receptor1001
regulator of G-protein signaling 42002
EWS/FLI fusion protein1001
cytochrome P450 2D62002
v-jun sarcoma virus 17 oncogene homolog (avian)1001
cytochrome P450 2D6 isoform 11001
cytochrome P450 2C19 precursor1001
D(1A) dopamine receptor1001
potassium voltage-gated channel subfamily H member 2 isoform d2002
atrial natriuretic peptide receptor 2 precursor1001
lethal factor (plasmid)1001
chaperonin GroEL1001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Sodium-dependent noradrenaline transporter0101
Voltage-dependent calcium channel gamma-2 subunit2002
Prostaglandin G/H synthase 10101
Aldo-keto reductase family 1 member B10202
5-hydroxytryptamine receptor 2C0101
Alpha-2A adrenergic receptor0202
Glycogen phosphorylase, brain form0101
Glycogen phosphorylase, muscle form0101
Angiotensin-converting enzyme0202
D(2) dopamine receptor0202
5-hydroxytryptamine receptor 2A0202
Alpha-2B adrenergic receptor0202
Alpha-2C adrenergic receptor0202
D0101
D(3) dopamine receptor0101
5-hydroxytryptamine receptor 1A0303
Glutamate receptor 22002
Endothelin receptor type B0101
D(1A) dopamine receptor0202
UDP-glucuronosyltransferase 1A40102
Sodium-dependent noradrenaline transporter 0202
Endothelin receptor type B0101
Histamine H2 receptor0202
D(1B) dopamine receptor0101
5-hydroxytryptamine receptor 2A0202
5-hydroxytryptamine receptor 1B0202
D(4) dopamine receptor0101
5-hydroxytryptamine receptor 2B0101
Sodium-dependent serotonin transporter0101
5-hydroxytryptamine receptor 7 0101
5-hydroxytryptamine receptor 2C 0101
5-hydroxytryptamine receptor 70101
Histamine H1 receptor0213
D(3) dopamine receptor0202
UDP-glucuronosyltransferase 1A30001
5-hydroxytryptamine receptor 2B0404
5-hydroxytryptamine receptor 60202
D(2) dopamine receptor0101
D(2) dopamine receptor0202
Potassium voltage-gated channel subfamily H member 20303
Sodium-dependent serotonin transporter0101
Nuclear receptor subfamily 3 group C member 3 0202
Histone-lysine N-methyltransferase SETD70202
Transporter0101
hypoxia-inducible factor 1 alpha subunit2002
SMAD family member 21001
SMAD family member 31001
heat shock protein beta-12002
Sex hormone-binding globulin0011
Beta-glucuronidase0101
Corticosteroid-binding globulin0101
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0202
Alpha-synuclein1102
TAR DNA-binding protein 431001
G-protein coupled bile acid receptor 10011
Glucose-6-phosphate 1-dehydrogenase 0101
NPC1-like intracellular cholesterol transporter 10011
Chain B, EUKARYOTIC TRANSLATION INITIATION FACTOR 4E0011
thyroid hormone receptor beta isoform a2002
Carbonic anhydrase 10202
Carbonic anhydrase 20202
Carbonic anhydrase 40101
Carbonic anhydrase0202
Carbonic anhydrase 150101
thioredoxin reductase2002
GLS protein2002
Microtubule-associated protein tau2002
mitogen-activated protein kinase 11001
flap endonuclease 11001
cytochrome P450 3A4 isoform 12002
Gamma-aminobutyric acid receptor subunit pi2103
Potassium channel subfamily K member 30101
Potassium channel subfamily K member 20101
Sodium channel protein type 1 subunit alpha0101
Sodium channel protein type 2 subunit alpha0101
Sodium channel protein type 3 subunit alpha0101
Gamma-aminobutyric acid receptor subunit beta-12103
Gamma-aminobutyric acid receptor subunit delta2103
Gamma-aminobutyric acid receptor subunit gamma-22103
Gamma-aminobutyric acid receptor subunit alpha-52103
Gamma-aminobutyric acid receptor subunit alpha-32103
Potassium voltage-gated channel subfamily A member 50101
Gamma-aminobutyric acid receptor subunit gamma-12103
Gamma-aminobutyric acid receptor subunit alpha-22103
Gamma-aminobutyric acid receptor subunit alpha-42103
Gamma-aminobutyric acid receptor subunit gamma-32103
Gamma-aminobutyric acid receptor subunit alpha-62103
Sodium channel protein type 4 subunit alpha0101
Gamma-aminobutyric acid receptor subunit alpha-12103
Gamma-aminobutyric acid receptor subunit beta-32103
Gamma-aminobutyric acid receptor subunit beta-22103
Sodium channel protein type 5 subunit alpha0101
Sodium channel protein type 9 subunit alpha0101
Potassium voltage-gated channel subfamily D member 20101
Potassium channel subfamily K member 180101
GABA theta subunit2103
Gamma-aminobutyric acid receptor subunit epsilon2103
Sodium channel protein type 3 subunit alpha0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
Chain A, Ribulose-1,5 bisphosphate carboxylase/oxygenase large subunit N-methyltransferase, chloroplast0101
Glutathione reductase, mitochondrial0202
Cationic amino acid transporter 30101
ATP-dependent translocase ABCB10101
ATP-dependent translocase ABCB10101
Cytochrome P450 3A40112
Translocator protein0101
UDP-glucuronosyltransferase 2B70101
UDP-glucuronosyltransferase 1-60101
ATP-dependent translocase ABCB10101
UDP-glucuronosyltransferase 1A1 0101
UDP-glucuronosyltransferase 2B10 0101
Carbonic anhydrase 0101
Polyphenol oxidase 20101
Mu-type opioid receptor0101
Carbonic anhydrase 0101
Chain A, Nuclear Receptor ROR-beta0101
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
Chain A, Ferritin light chain1001
Chain A, Cruzipain1001
Luciferase1001
USP1 protein, partial1001
thioredoxin glutathione reductase1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
nonstructural protein 11001
G1001
bromodomain adjacent to zinc finger domain 2B1001
thyrotropin-releasing hormone receptor1001
Caspase-71001
vitamin D3 receptor isoform VDRA1001
nuclear factor erythroid 2-related factor 2 isoform 21001
caspase-31001
nuclear receptor ROR-gamma isoform 11001
DNA polymerase kappa isoform 11001
survival motor neuron protein isoform d1001
M-phase phosphoprotein 81001
Ornithine decarboxylase0001
HLA class I histocompatibility antigen, B alpha chain 1001
Amyloid-beta precursor protein0101
Cytochrome P450 1A20011
Ornithine decarboxylase0001
60 kDa chaperonin0101
Retinoic acid receptor alpha0227
Cytochrome P450 2D60011
60 kDa heat shock protein, mitochondrial0101
Retinoic acid receptor beta0227
Retinoic acid receptor alpha0123
Cytochrome P450 2C9 0011
Retinoic acid receptor gamma 0227
Alpha-1B adrenergic receptor0202
Alpha-1A adrenergic receptor0101
Retinoic acid receptor gamma0123
Retinoic acid receptor RXR-alpha0224
Retinoic acid receptor beta0123
Cellular retinoic acid-binding protein 20011
Alpha-1D adrenergic receptor0101
Mitogen-activated protein kinase 10101
Retinoic acid receptor RXR-alpha0123
Retinoic acid receptor RXR-beta0224
Retinoic acid receptor RXR-beta0123
Retinoic acid receptor RXR-gamma0123
Indoleamine 2,3-dioxygenase 10101
Cytochrome P450 2C190011
Nuclear receptor ROR-alpha0101
Cellular retinoic acid-binding protein 10102
Alpha-1A adrenergic receptor0202
Retinoic acid receptor RXR-gamma0224
10 kDa heat shock protein, mitochondrial0101
Cellular retinoic acid-binding protein 10011
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 10213
Thiosulfate sulfurtransferase0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
Indoleamine 2,3-dioxygenase 20101
Inositol hexakisphosphate kinase 11001
Nuclear receptor ROR-beta0101
cytochrome P450 2C9, partial1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]