MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Abnormalities, Multiple (D000015)
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Chromosome Disorders (D025063)
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Craniofacial Abnormalities (D019465)
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Dwarfism (D004392)
..Starting node
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Silver-Russell Syndrome (D056730)

       Child Nodes:
........expandRussell-Silver Syndrome, X-Linked (C562446)



 Sister Nodes: 
..expandAarskog Syndrome (C535331) Child1
..expandAbuse dwarfism syndrome (C535569)
..expandAchondroplasia (D000130) Child21
..expandAcromesomelic dysplasia (C535658) Child1
..expandAcromesomelic dysplasia Campailla-Martinelli type (C535659)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAlopecia contractures dwarfism mental retardation (C537051)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandAnauxetic dysplasia (C538256)
..expandAstley-Kendall syndrome (C535392)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandBangstad syndrome (C537902)
..expandBird headed dwarfism Montreal type (C535448)
..expandBoomerang dysplasia (C536573)
..expandBrachydactylous dwarfism Mseleni type (C537086)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandBrunoni syndrome (C537408)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCantu Sanchez-Corona Fragoso syndrome (C535571)
..expandChondrodysplasia Calcificans Metaphysealis (C565855)
..expandChondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..expandCockayne Syndrome (D003057) Child6
..expandCongenital Hypothyroidism (D003409) Child17
..expandDe Sanctis-Cacchione syndrome (C535992)
..expandDesbuquois syndrome (C535943)
..expandDiastrophic dysplasia (C536170)
..expandDiastrophic Dysplasia, Broad Bone-Platyspondylic Variant (C565626)
..expandDisproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandDwarfism tall vertebrae (C535725)
..expandDwarfism, Familial, With Muscle Spasms (C563447)
..expandDwarfism, Levi Type (C565081)
..expandDwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615)
..expandDwarfism, Pituitary (D004393) Child11
..expandDwarfism, Proportionate, with Hip Dislocation (C565614)
..expandDyggve-Melchior-Clausen syndrome (C535726)
..expandDyssegmental dysplasia (C537998)
..expandDyssegmental Dysplasia with Glaucoma (C563290)
..expandFibrochondrogenesis (C562524)
..expandGerodermia osteodysplastica (C537799)
..expandGrowth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..expandHadziselimovic Syndrome (C567850)
..expandHypochondroplasia (C562937)
..expandIchthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..expandIsolated Growth Hormone Deficiency, Type IB (C567564)
..expandKenny-Caffey syndrome, type 2 (C537020)
..expandKeratosis follicularis dwarfism cerebral atrophy (C536158)
..expandKniest dysplasia (C537207)
..expandLaplane Fontaine Lagardere syndrome (C537869)
..expandLaron Syndrome (D046150) Child1
..expandMegaepiphyseal dwarfism (C536140) Child1
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..expandMental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
..expandMesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..expandMesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..expandMetatropic dwarfism (C537356)
..expandMetatropic Dwarfism, Type II (C581628)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephalic primordial dwarfism Toriello type (C537321)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandMollica Pavone Antener syndrome (C535809)
..expandMulibrey Nanism (D050336) Child1
..expandNievergelt syndrome (C536120)
..expandOculopalatocerebral Syndrome (C564935)
..expandOliver-McFarlane syndrome (C536554)
..expandParastremmatic dwarfism (C537172)
..expandPseudodiastrophic dysplasia (C535826)
..expandRapadilino syndrome (C535288)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRommen Mueller Sybert syndrome (C535871)
..expandRuvalcaba Syndrome (C579395)
..expandSeckel like syndrome type Buebel (C537532)
..expandSeckel syndrome 1 (C537533)
..expandSeckel syndrome 2 (C537534)
..expandSeckel Syndrome 3 (C563881)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandShort limb dwarfism Al Gazali type (C537598)
..expandShort Stature And Facioauriculothoracic Malformations (C566457)
..expandShort Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..expandShort Stature-Obesity Syndrome (C564821)
..expandSilver-Russell Syndrome (D056730) Child1
..expandSingh Chhaparwal Dhanda syndrome (C537341)
..expandSpondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..expandSpondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..expandSynovial Chondromatosis, Familial, with Dwarfism (C566087)
..expandThoraco limb dysplasia Rivera type (C536516)
..expandThoracomelic Dysplasia (C564773)
..expandThree M Syndrome 2 (C567862)
..expandTryptophanuria With Dwarfism (C562658)
..expandWeill-Marchesani Syndrome (D056846)
..expandWeill-Marchesani-Like Syndrome (C567710)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11245
Name:Silver-Russell Syndrome
Definition: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.
Alternative IDs:DO:DOID:14681|OMIM:180860
ParentIDs:MESH:D000015|MESH:D004392|MESH:D019465|MESH:D025063
TreeNumbers:C05.660.207.925 |C16.131.077.855 |C16.131.260.870 |C16.320.180.870 |C16.320.240.937
Synonyms:Dwarfism, Silver Russell |Dwarfism, Silver-Russell |RSS |Russell Silver Syndrome |Russell-Silver Syndrome |Silver Russell Dwarfism |Silver-Russell Dwarfism |Silver Russell Syndrome |SRS |Syndrome, Russell Silver |Syndrome, Silver-Russell
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: D056730
MeSH: D056730
OMIM: 180860;
MSeqDR LSDB:  
Genes: AF8T; H19;
Phenotypes
1 HP:0001626Abnormality of the cardiovascular system
NAMDC:  Cardiac:Maybe HP:0001626
2 HP:0001760Abnormality of the foot
3 HP:0000069Abnormality of the ureter
4 HP:0000592Blue sclerae
5 HP:0000957Cafe-au-lait spot
6 HP:0004209Clinodactyly of the 5th finger
7 HP:0010957Congenital posterior urethral valve
8 HP:0005461Craniofacial disproportion
9 HP:0030062Craniopharyngioma
10 HP:0000270Delayed cranial suture closure
11 HP:0002750Delayed skeletal maturation
12 HP:0002714Downturned corners of mouth
13 HP:0003162Fasting hypoglycemia
14 HP:0002007Frontal bossing
15 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
16 HP:0001263Global developmental delay
NAMDC:  Mental retardation
17 HP:0000824Growth hormone deficiency
18 HP:0001402Hepatocellular carcinoma
19 HP:0000047Hypospadias
20 HP:0001511Intrauterine growth retardation
21 HP:0000347Micrognathia
22 HP:0002667Nephroblastoma
23 HP:0004227Short distal phalanx of the 5th finger
24 HP:0004220Short middle phalanx of the 5th finger
25 HP:0001518Small for gestational age
26 HP:0003745Sporadic
27 HP:0001159Syndactyly
28 HP:0100617Testicular seminoma
29 HP:0000325Triangular face
30 HP:0010481Urethral valve
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)1028CDKN1CPathogenicrs318240750RCV000172991|RCV000240673; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:813|MONDO:MONDO:0013873,MedGen:C1846009,OMIM:614732, Orphanet:851731129053492905349CA11:g.2905349C>AClinGen:CA274888
NM_003483.4(HMGA2):c.189del (p.Ala64fs)8091HMGA2Pathogenicrs1114167320RCV000491565|RCV001174519; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:813|MedGen:C5394456,OMIM:618908126622185866221858CAC12:g.66221858_66221858delClinGen:CA645369522,OMIM:600698.0003C0175693 180860 Russell-Silver syndrome;
NM_003483.4(HMGA2):c.193C>T (p.Gln65Ter)8091HMGA2Pathogenicrs1114167319RCV000491113|RCV001174518; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:813|MedGen:C5394456,OMIM:618908126622186266221862CT12:g.66221862C>TClinGen:CA385678829,OMIM:600698.0002
NM_000612.6(IGF2):c.157+1_157+2insGC3481IGF2Pathogenicrs1114167321RCV000490875; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:8131121565952156596AACG11:g.2156595_2156596insCGClinGen:CA645369514
NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)3481IGF2Pathogenicrs1064794050RCV000479354|RCV000491853; NMedGen:CN517202|MONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:8131121566762156676GC11:g.2156676G>CClinGen:CA16616844
Single allele-1KCNQ1;KCNQ1OT1Pathogenic-1RCV001254930; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:8131127206742722054nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_002655.3(PLAG1):c.1363del (p.Gln455fs)5324PLAG1Pathogenicrs1114167318RCV000491883|RCV001174522; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:813|MedGen:C5394450,OMIM:61890785707894257078942TGT8:g.57078942_57078942delClinGen:CA645369440,OMIM:603026.0002C0175693 180860 Russell-Silver syndrome;
NM_002655.3(PLAG1):c.439del (p.Ser147fs)5324PLAG1Pathogenicrs1114167317RCV000490859|RCV001174521; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:813|MedGen:C5394450,OMIM:61890785707986657079866CTC8:g.57079866_57079866delClinGen:CA645369441,OMIM:603026.0001C0175693 180860 Russell-Silver syndrome;
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3-1subset of 210 genes: CDKN1C:DCPathogenic-1RCV001263222; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:813112103008664358nana-1-
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)-1subset of 245 genes: CDKN1C:DCPathogenic-1RCV000767567; NMONDO:MONDO:0008394,MedGen:C5393125,OMIM:180860, Orphanet:8131119314612643136nana-
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