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:
expandBrachydactyly (D059327)
Parent Node:
expandDeafness (D003638)
Parent Node:
expandDiseases (C)
Parent Node:
expandSymphalangism, Distal (C566099)
Parent Node:
expandSynostosis (D013580)
..Starting node
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)

       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:7478
Name:MULTIPLE SYNOSTOSES SYNDROME 1
Definition:
Alternative IDs:
ParentIDs:MESH:C566099|MESH:D003638|MESH:D013580|MESH:D059327
TreeNumbers:C05.116.099.370.894/186500 |C05.330.495/C566099/186500 |C05.390.408/C566099/186500 |C05.550.069/C566099/186500 |C05.660.585.262/186500 |C05.660.585.512.380/C566099/186500 |C05.660.585.988.425/C566099/186500 |C05.660.906/186500 |C09.218.458.341.186/186500 |C10.597
Synonyms:DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN |FACIOAUDIOSYMPHALANGISM SYNDROME |SYMPHALANGISM-BRACHYDACTYLY SYNDROME |SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY |SYNS1 |WL SYNDROME
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 186500
MeSH: 186500
OMIM: 186500;

Genes: NOG;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:00046912-3 toe syndactyly
3 HP:0003468Abnormal vertebral morphology
4 HP:0001032Absent distal interphalangeal creases
5 HP:0005807Absent distal phalanges
6 HP:0001798Anonychia
7 HP:0009843Aplasia/Hypoplasia of the middle phalanges of the hand
8 HP:0010624Aplastic/hypoplastic toenail
9 HP:0001156Brachydactyly
10 HP:0009702Carpal synostosis
11 HP:0030084Clinodactyly
12 HP:0002967Cubitus valgus
13 HP:0010554Cutaneous finger syndactyly
14 HP:0003083Dislocated radial head
15 HP:0000920Enlargement of the costochondral junction
16 HP:0006187Fusion of midphalangeal joints
17 HP:0005104Hypoplastic nasal septum
18 HP:0008460Hypoplastic spinal processes
19 HP:0009816Lower limb undergrowth
20 HP:0000275Narrow face
21 HP:0000767Pectus excavatum
22 HP:0008607Progressive conductive hearing impairment
23 HP:0006152Proximal symphalangism of hands
24 HP:0009466Radial deviation of finger
25 HP:0001773Short foot
26 HP:0010109Short hallux
27 HP:0005792Short humerus
28 HP:0006385Short lower limbs
29 HP:0000322Short philtrum
30 HP:0000879Short sternum
31 HP:0000954Single transverse palmar crease
32 HP:0003416Spinal canal stenosis
33 HP:0000381Stapes ankylosis
34 HP:0000486Strabismus
35 HP:0008368Tarsal synostosis
36 HP:0000215Thick upper lip vermilion
37 HP:0000219Thin upper lip vermilion
38 HP:0000430Underdeveloped nasal alae
39 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_005450.4(NOG):c.615G>C (p.Trp205Cys)9241NOGPathogenic104894615RCV000007099; NMedGen:C0342282,OMIM:186500,SNOMED CT:129580008175467219954672199NM_005450.4:c.615G>CNP_005441.1:p.Trp205CysNC_000017.10:g.54672199G>COMIM Allelic Variant:602991.0016C0342282 186500 Symphalangism-brachydactyly syndrome
NM_005450.4(NOG):c.649T>G (p.Trp217Gly)9241NOGPathogenic104894603RCV000007081; NMedGen:C0342282,OMIM:186500,SNOMED CT:129580008175467223354672233NM_005450.4:c.649T>GNP_005441.1:p.Trp217GlyNC_000017.10:g.54672233T>GOMIM Allelic Variant:602991.0003C0342282 186500 Symphalangism-brachydactyly syndrome
NM_005450.4(NOG):c.696C>G (p.Cys232Trp)9241NOGPathogenic387906844RCV000023225; NMedGen:C0342282,OMIM:186500,SNOMED CT:129580008175467228054672280NM_005450.4:c.696C>GNP_005441.1:p.Cys232TrpNC_000017.10:g.54672280C>GOMIM Allelic Variant:602991.0019C0342282 186500 Symphalangism-brachydactyly syndrome