MCID: MLT078
MIFTS: 21

Multiple Synostoses Syndrome 3

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

Aliases & Classifications for Multiple Synostoses Syndrome 3

MalaCards integrated aliases for Multiple Synostoses Syndrome 3:

Name: Multiple Synostoses Syndrome 3 57 75 29 13 6 73
Syns3 57 75
Synostoses Syndrome, Multiple, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
multiple synostoses syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612961
MedGen 42 C2751826
MeSH 44 D013580
SNOMED-CT via HPO 69 263681008 54583007 205329008
UMLS 73 C2751826

Summaries for Multiple Synostoses Syndrome 3

UniProtKB/Swiss-Prot : 75 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 metatarsal synostosis and cubitus valgus

Description from OMIM: 612961

Related Diseases for Multiple Synostoses Syndrome 3

Symptoms & Phenotypes for Multiple Synostoses Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Multiple Synostoses Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 metatarsal synostosis 32 HP:0001440
2 cubitus valgus 32 HP:0002967
3 humeroradial synostosis 32 HP:0003041
4 limited interphalangeal movement 32 HP:0006064
5 metacarpal synostosis 32 HP:0009701

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

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 29 FGF9

Anatomical Context for Multiple Synostoses Syndrome 3

MalaCards organs/tissues related to Multiple Synostoses Syndrome 3:

41
Bone

Publications for Multiple Synostoses Syndrome 3

Variations for Multiple Synostoses Syndrome 3

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

75
# 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 GRCh38 Chromosome 13, 21672096: 21672096
4 FGF9 NM_002010.2(FGF9): c.184A> G (p.Arg62Gly) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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