Disease Browser
Parent Node: Abnormalities, Multiple (D000015) Parent Node: Chromosome Disorders (D025063) Parent Node: Craniofacial Abnormalities (D019465) Parent Node: Dwarfism (D004392) ..Starting node .. Silver-Russell Syndrome (D056730) Child Nodes:
........Russell-Silver Syndrome, X-Linked (C562446) Sister Nodes: ..Aarskog Syndrome (C535331) 1 ..Abuse dwarfism syndrome (C535569) ..Achondroplasia (D000130) 21 ..Acromesomelic dysplasia (C535658) 1 ..Acromesomelic dysplasia Campailla-Martinelli type (C535659) ..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968) ..Alopecia contractures dwarfism mental retardation (C537051) ..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960) ..Anauxetic dysplasia (C538256) ..Astley-Kendall syndrome (C535392) ..Asymmetric Short Stature Syndrome (C566248) ..ATELOSTEOGENESIS, TYPE III (OMIM:108721) ..Bangstad syndrome (C537902) ..Bird headed dwarfism Montreal type (C535448) ..Boomerang dysplasia (C536573) ..Brachydactylous dwarfism Mseleni type (C537086) ..Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893) ..Brunoni syndrome (C537408) ..Bullous Dystrophy, Hereditary Macular Type (C563065) ..Cantu Sanchez-Corona Fragoso syndrome (C535571) ..Chondrodysplasia Calcificans Metaphysealis (C565855) ..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644) ..Cockayne Syndrome (D003057) 6 ..Congenital Hypothyroidism (D003409) 17 ..De Sanctis-Cacchione syndrome (C535992) ..Desbuquois syndrome (C535943) ..Diastrophic dysplasia (C536170) ..Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant (C565626) ..Disproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094) ..Dwarfism stiff joint ocular abnormalities (C535724) ..Dwarfism tall vertebrae (C535725) ..Dwarfism, Familial, With Muscle Spasms (C563447) ..Dwarfism, Levi Type (C565081) ..Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615) ..Dwarfism, Pituitary (D004393) 11 ..Dwarfism, Proportionate, with Hip Dislocation (C565614) ..Dyggve-Melchior-Clausen syndrome (C535726) ..Dyssegmental dysplasia (C537998) ..Dyssegmental Dysplasia with Glaucoma (C563290) ..Fibrochondrogenesis (C562524) ..Gerodermia osteodysplastica (C537799) ..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856) ..Hadziselimovic Syndrome (C567850) ..Hypochondroplasia (C562937) ..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274) ..Isolated Growth Hormone Deficiency, Type IB (C567564) ..Kenny Caffey syndrome (C537020) ..Keratosis follicularis dwarfism cerebral atrophy (C536158) ..Kniest dysplasia (C537207) ..Laplane Fontaine Lagardere syndrome (C537869) ..Laron Syndrome (D046150) 1 ..Megaepiphyseal dwarfism (C536140) 1 ..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453) ..Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248) ..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589) ..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349) ..Metatropic dwarfism (C537356) ..Metatropic Dwarfism, Type II (C581628) ..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577) ..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320) ..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898) ..Microcephalic primordial dwarfism Toriello type (C537321) ..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314) ..Mollica Pavone Antener syndrome (C535809) ..Mulibrey Nanism (D050336) 1 ..Nievergelt syndrome (C536120) ..Oculopalatocerebral Syndrome (C564935) ..Oliver-McFarlane syndrome (C536554) ..Parastremmatic dwarfism (C537172) ..Pseudodiastrophic dysplasia (C535826) ..Rapadilino syndrome (C535288) ..Robinow Syndrome, Autosomal Dominant (C562492) ..Rommen Mueller Sybert syndrome (C535871) ..Ruvalcaba Syndrome (C579395) ..Seckel like syndrome type Buebel (C537532) ..Seckel syndrome 1 (C537533) ..Seckel syndrome 2 (C537534) ..Seckel Syndrome 3 (C563881) ..SECKEL SYNDROME 4 (OMIM:613676) ..Short limb dwarfism Al Gazali type (C537598) ..Short Stature And Facioauriculothoracic Malformations (C566457) ..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989) ..Short Stature-Obesity Syndrome (C564821) ..Silver-Russell Syndrome (D056730) 1 ..Singh Chhaparwal Dhanda syndrome (C537341) ..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787) ..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794) ..Synovial Chondromatosis, Familial, with Dwarfism (C566087) ..Thoraco limb dysplasia Rivera type (C536516) ..Thoracomelic Dysplasia (C564773) ..Three M Syndrome 2 (C567862) ..Tryptophanuria With Dwarfism (C562658) ..Weill-Marchesani Syndrome (D056846) ..Weill-Marchesani-Like Syndrome (C567710) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 10243
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: 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 ; Genes: AF8T ; H19 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_000076.2(CDKN1C):c.836G>T (p.Arg279Leu) 1028 CDKN1C not provided 318240750 RCV000172991 ; N Gene:140821,MedGen:C0175693,OMIM:180860,ORPHA:813,SNOMED CT:15069006 11 2905349 2905349 NM_000076.2:c.836G>T NP_000067.1:p.Arg279Leu NC_000011.9:g.2905349C>A,NC_000011.9:g.2905349C>G - C0175693 180860 Russell-Silver syndrome