SYNS1
MCID: MLT059
MIFTS: 33

Multiple Synostoses Syndrome 1 (SYNS1) malady

Categories: Genetic diseases, Rare diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Multiple Synostoses Syndrome 1

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Aliases & Descriptions for Multiple Synostoses Syndrome 1:

Name: Multiple Synostoses Syndrome 1 52 48 24 70
Symphalangism-Brachydactyly Syndrome 24 70 68
Syns1 48 70 50
Deafness-Symphalangism Syndrome of Herrmann 48 70
Synostoses Multiple with Brachydactyly 48 70
Facioaudiosymphalangism Syndrome 48 70
 
Wl Syndrome 48 70
Synostoses, Multiple, with Brachydactyly 24
Symphalangism Brachydactyly Syndrome 48
Brachydactyly-Symphalangism Syndrome 27
Facioaudiosymphalangism 24

Characteristics:

HPO:

64
multiple synostoses syndrome 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 186500
MedGen37 C0342282
MeSH39 D013580

Summaries for Multiple Synostoses Syndrome 1

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OMIM:52 Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive... (186500) more...

MalaCards based summary: Multiple Synostoses Syndrome 1, also known as symphalangism-brachydactyly syndrome, is related to multiple synostoses syndrome and brachydactyly-distal symphalangism syndrome, and has symptoms including waddling gait, waddling gait and thick upper lip vermilion. An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin), and among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone, and related mouse phenotypes are Lamellipodia cells and limbs/digits/tail.

UniProtKB/Swiss-Prot:70 Multiple synostoses syndrome 1: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.

Related Diseases for Multiple Synostoses Syndrome 1

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Graphical network of diseases related to Multiple Synostoses Syndrome 1:



Diseases related to multiple synostoses syndrome 1

Symptoms & Phenotypes for Multiple Synostoses Syndrome 1

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Symptoms by clinical synopsis from OMIM:

186500

Clinical features from OMIM:

186500

Human phenotypes related to Multiple Synostoses Syndrome 1:

 64 (show all 38)
id Description HPO Frequency HPO Source Accession
1 thick upper lip vermilion64 HP:0000215
2 thin upper lip vermilion64 HP:0000219
3 narrow face64 HP:0000275
4 short philtrum64 HP:0000322
5 stapes ankylosis64 HP:0000381
6 underdeveloped nasal alae64 HP:0000430
7 strabismus64 HP:0000486
8 pectus excavatum64 HP:0000767
9 short sternum64 HP:0000879
10 enlargement of the costochondral junction64 HP:0000920
11 single transverse palmar crease64 HP:0000954
12 absent distal interphalangeal creases64 HP:0001032
13 brachydactyly syndrome64 HP:0001156
14 short foot64 HP:0001773
15 anonychia64 HP:0001798
16 waddling gait64 HP:0002515
17 cubitus valgus64 HP:0002967
18 dislocated radial head64 HP:0003083
19 spinal canal stenosis64 HP:0003416
20 abnormality of the vertebrae64 HP:0003468
21 2-3 toe syndactyly64 HP:0004691
22 hypoplastic nasal septum64 HP:0005104
23 short humerus64 HP:0005792
24 absent distal phalanges64 HP:0005807
25 proximal symphalangism of hands64 HP:0006152
26 fusion of midphalangeal joints64 HP:0006187
27 short lower limbs64 HP:0006385
28 tarsal synostosis64 HP:0008368
29 hypoplastic spinal processes64 HP:0008460
30 progressive conductive hearing impairment64 HP:0008607
31 radial deviation of finger64 HP:0009466
32 carpal synostosis64 HP:0009702
33 lower limb undergrowth64 HP:0009816
34 aplasia/hypoplasia of the middle phalanges of the hand64 HP:0009843
35 short hallux64 HP:0010109
36 cutaneous finger syndactyly64 HP:0010554
37 aplastic/hypoplastic toenail64 HP:0010624
38 clinodactyly64 HP:0030084

UMLS symptoms related to Multiple Synostoses Syndrome 1:


waddling gait

GenomeRNAi Phenotypes related to Multiple Synostoses Syndrome 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00165-A9.8GDF5, NOG

MGI Mouse Phenotypes related to Multiple Synostoses Syndrome 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1GDF5, NOG

Drugs & Therapeutics for Multiple Synostoses Syndrome 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165

Search NIH Clinical Center for Multiple Synostoses Syndrome 1

Genetic Tests for Multiple Synostoses Syndrome 1

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Genetic tests related to Multiple Synostoses Syndrome 1:

id Genetic test Affiliating Genes
1 Symphalangism-Brachydactyly Syndrome27
2 Multiple Synostoses Syndrome 124 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

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MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

36
Bone

Publications for Multiple Synostoses Syndrome 1

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Variations for Multiple Synostoses Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 1:

70
id Symbol AA change Variation ID SNP ID
1NOGp.Trp217GlyVAR_011363rs104894603
2NOGp.Cys232TrpVAR_064541rs387906844

Clinvar genetic disease variations for Multiple Synostoses Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOGNM_ 005450.4(NOG): c.696C> G (p.Cys232Trp)SNVPathogenicrs387906844GRCh37Chr 17, 54672280: 54672280
2NOGNM_ 005450.4(NOG): c.649T> G (p.Trp217Gly)SNVPathogenicrs104894603GRCh37Chr 17, 54672233: 54672233
3NOGNOG, 1-BP DELdeletionPathogenic
4NOGNOG, TRP205TERundetermined variantPathogenic
5NOGNM_ 005450.4(NOG): c.615G> C (p.Trp205Cys)SNVPathogenicrs104894615GRCh37Chr 17, 54672199: 54672199
6GDF5NM_ 000557.4(GDF5): c.-275T> CSNVrisk factorrs143383GRCh37Chr 20, 34025983: 34025983

Expression for genes affiliated with Multiple Synostoses Syndrome 1

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Search GEO for disease gene expression data for Multiple Synostoses Syndrome 1.

Pathways for genes affiliated with Multiple Synostoses Syndrome 1

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Pathways related to Multiple Synostoses Syndrome 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1GDF5, NOG
2
Show member pathways
9.1GDF5, NOG
39.1GDF5, NOG

GO Terms for genes affiliated with Multiple Synostoses Syndrome 1

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Biological processes related to Multiple Synostoses Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:00512169.1GDF5, NOG

Sources for Multiple Synostoses Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet