Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandSynostosis (D013580)
..Starting node
..expandMultiple synostoses syndrome 2 (C537380)

       Child Nodes:



 Sister Nodes: 
..expandAntley-Bixler Syndrome Phenotype (D054882) Child2
..expandBanki Syndrome (C566228)
..expandCoronal synostosis, syndactyly and jejunal atresia (C536445)
..expandCraniosynostoses (D003398) Child64
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandHumeroradial Multiple Synostosis Syndrome (C565509)
..expandHumeroradial Synostosis with Craniofacial Anomalies (C566888)
..expandJorgenson Lenz syndrome (C536292)
..expandMesomelia-synostoses syndrome (C537348)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMultiple synostoses syndrome 2 (C537380)
..expandMultiple Synostoses Syndrome 3 (C567839)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandPatella aplasia, coxa vara, tarsal synostosis (C536307)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRadioulnar Synostosis (C562408)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandRadioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandRamer Ladda syndrome (C535284)
..expandSpondylocarpotarsal synostosis (C535780)
..expandSymphalangism of Toes (C566101)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSyndactyly (D013576) Child69
..expandSynostoses, tarsal, carpal, and digital (C538156)
..expandSynostosis of Talus and Calcaneus with Short Stature (C566089)
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandTsukahara Syndrome (C566376)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7479
Name:Multiple synostoses syndrome 2
Definition:
Alternative IDs:OMIM:610017
ParentIDs:MESH:D013580
TreeNumbers:C05.116.099.370.894/C537380 |C05.660.906/C537380 |C16.131.621.906/C537380
Synonyms:SYNS2
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C537380
MeSH: C537380
OMIM: 610017;

Genes: GDF5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001156Brachydactyly
3 HP:0009702Carpal synostosis
4 HP:0009700Finger symphalangism
5 HP:0003041Humeroradial synostosis
6 HP:0100264Proximal symphalangism
7 HP:0001762Talipes equinovarusHP:0040283
8 HP:0008368Tarsal synostosis
9 HP:0002948Vertebral fusion
10 HP:0000445Wide nose
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000557.4(GDF5):c.1424G>A (p.Ser475Asn)-1-Pathogenic121909347RCV000008896; NMedGen:C1832708,OMIM:610017203402178934021789NM_000557.4:c.1424G>ANP_000548.2:p.Ser475AsnNC_000020.10:g.34021789C>TOMIM Allelic Variant:601146.0013C1832708 610017 Multiple synostoses syndrome 2
NM_000557.4(GDF5):c.1313G>T (p.Arg438Leu)-1-Pathogenic74315388RCV000008894; RCV000008893; NMedGen:C1832708,OMIM:610017; MedGen:C3809104,OMIM:615298203402190034021900NM_000557.4:c.1313G>TNP_000548.2:p.Arg438LeuNC_000020.10:g.34021900C>AOMIM Allelic Variant:601146.0011C1832708 610017 Multiple synostoses syndrome 2; C3809104 615298 Symphalangism, proximal, 1b