SYNS3
MCID: MLT078
MIFTS: 23

Multiple Synostoses Syndrome 3 (SYNS3)

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

Aliases & Classifications for Multiple Synostoses Syndrome 3

MalaCards integrated aliases for Multiple Synostoses Syndrome 3:

Name: Multiple Synostoses Syndrome 3 58 76 30 13 6 74
Syns3 58 76
Synostoses Syndrome, Multiple, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
multiple synostoses syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612961
MeSH 45 D013580
MedGen 43 C2751826
UMLS 74 C2751826

Summaries for Multiple Synostoses Syndrome 3

UniProtKB/Swiss-Prot : 76 Multiple synostoses syndrome 3: 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.

MalaCards based summary : Multiple Synostoses Syndrome 3, is also known as syns3. An important gene associated with Multiple Synostoses Syndrome 3 is FGF9 (Fibroblast Growth Factor 9). The drugs BCG vaccine and Interferon-alpha have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are broad thumb and hallux varus

Description from OMIM: 612961

Related Diseases for Multiple Synostoses Syndrome 3

Symptoms & Phenotypes for Multiple Synostoses Syndrome 3

Human phenotypes related to Multiple Synostoses Syndrome 3:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 broad thumb 33 very rare (1%) HP:0011304
2 hallux varus 33 very rare (1%) HP:0008080
3 broad hallux 33 very rare (1%) HP:0010055
4 cutaneous syndactyly of toes 33 very rare (1%) HP:0010621
5 cubitus valgus 33 HP:0002967
6 metacarpal synostosis 33 HP:0009701
7 humeroradial synostosis 33 HP:0003041
8 metatarsal synostosis 33 HP:0001440
9 limited interphalangeal movement 33 HP:0006064

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
cubitus valgus
humeroradial synostoses
semidislocation of elbow joint

Skeletal Hands:
broad thumbs (in some patients)
fusion of the interphalangeal joints
fusion of the first metacarpal and trapezium
limitation of finger joint flexion
limitation of carpal and interphalangeal joint movement, progressive
more
Head And Neck Eyes:
proptosis (in some patients)

Skeletal Skull:
sagittal suture fusion (in some patients)

Skeletal Feet:
cutaneous syndactyly of toes (in some patients)
broad halluces (in some patients)
fusion of the first metatarsal, cuneiform, and navicular
fusion of interphalangeal joints
limitation of tarsal and interphalangeal joint movement, progressive
more
Head And Neck Head:
dolichocephaly (in some patients)

Head And Neck Mouth:
cleft palate (in 1 patient)

Skeletal Spine:
fusion of lumbar joints (l2-3 and l4-5, in some patients)

Clinical features from OMIM:

612961

Drugs & Therapeutics for Multiple Synostoses Syndrome 3

Drugs for Multiple Synostoses Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
BCG vaccine Investigational Phase 3
2 Interferon-alpha Phase 2,Phase 1
3 interferons Phase 2,Phase 1
4 Interferon alpha-2 Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Evaluate INSTILADRIN® in Patients With High-Grade, Bacillus Calmette-Guerin (BCG) Unresponsive NMIBC Active, not recruiting NCT02773849 Phase 3
2 Intravesical Administration of rAd-IFN/Syn3 in Patients With BCG-Refractory or Relapsed Bladder Cancer Completed NCT01687244 Phase 2 INSTILADRIN
3 1B Intravesical Administration of SCH 721015 (Ad-IFNa) in Admixture With SCH 209702 (Syn3) for The Treatment of BCG Refractory Superficial Bladder Cancer Completed NCT01162785 Phase 1 SCH 721015

Search NIH Clinical Center for Multiple Synostoses Syndrome 3

Genetic Tests for Multiple Synostoses Syndrome 3

Genetic tests related to Multiple Synostoses Syndrome 3:

# Genetic test Affiliating Genes
1 Multiple Synostoses Syndrome 3 30 FGF9

Anatomical Context for Multiple Synostoses Syndrome 3

MalaCards organs/tissues related to Multiple Synostoses Syndrome 3:

42
Bone

Publications for Multiple Synostoses Syndrome 3

Articles related to Multiple Synostoses Syndrome 3:

# Title Authors Year
1
FGF9 mutation causes craniosynostosis along with multiple synostoses. ( 28730625 )
2017
2
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. ( 19589401 )
2009

Variations for Multiple Synostoses Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 FGF9 p.Ser99Asn VAR_063254 rs121918322

ClinVar genetic disease variations for Multiple Synostoses Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF9 NM_002010.2(FGF9): c.296G> A (p.Ser99Asn) single nucleotide variant Pathogenic rs121918322 GRCh37 Chromosome 13, 22255199: 22255199
2 FGF9 NM_002010.2(FGF9): c.296G> A (p.Ser99Asn) single nucleotide variant Pathogenic rs121918322 GRCh38 Chromosome 13, 21681060: 21681060
3 FGF9 NM_002010.2(FGF9): c.184A> G (p.Arg62Gly) single nucleotide variant Pathogenic rs1555223925 GRCh38 Chromosome 13, 21672096: 21672096
4 FGF9 NM_002010.2(FGF9): c.184A> G (p.Arg62Gly) single nucleotide variant Pathogenic rs1555223925 GRCh37 Chromosome 13, 22246235: 22246235

Expression for Multiple Synostoses Syndrome 3

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 3.

Pathways for Multiple Synostoses Syndrome 3

GO Terms for Multiple Synostoses Syndrome 3

Sources for Multiple Synostoses Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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