MCID: MLT060
MIFTS: 22

Multiple Synostoses Syndrome 2

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

Aliases & Classifications for Multiple Synostoses Syndrome 2

MalaCards integrated aliases for Multiple Synostoses Syndrome 2:

Name: Multiple Synostoses Syndrome 2 57 53 75 29 13 6 73
Syns2 57 53 75
Synostoses Syndrome, Multiple, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
multiple synostoses syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Multiple Synostoses Syndrome 2

UniProtKB/Swiss-Prot : 75 Multiple synostoses syndrome 2: 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 2, is also known as syns2. An important gene associated with Multiple Synostoses Syndrome 2 is GDF5 (Growth Differentiation Factor 5). The drugs Cladribine and rituximab have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are brachydactyly and talipes equinovarus

Description from OMIM: 610017

Related Diseases for Multiple Synostoses Syndrome 2

Symptoms & Phenotypes for Multiple Synostoses Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
broad hemicyclindrical nose

Skeletal Limbs:
humeroradial synostosis

Skeletal Feet:
tarsal fusions
tarsal coalition
talipes equinovarus (in some patients)

Skeletal Spine:
vertebral fusions

Skeletal Hands:
carpal fusions
carpal coalition
progressive symphalangism
proximal symphalangism
brachydactyly


Clinical features from OMIM:

610017

Human phenotypes related to Multiple Synostoses Syndrome 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 talipes equinovarus 32 occasional (7.5%) HP:0001762
3 vertebral fusion 32 HP:0002948
4 wide nose 32 HP:0000445
5 tarsal synostosis 32 HP:0008368
6 humeroradial synostosis 32 HP:0003041
7 carpal synostosis 32 HP:0009702
8 finger symphalangism 32 HP:0009700
9 proximal symphalangism 32 HP:0100264

Drugs & Therapeutics for Multiple Synostoses Syndrome 2

Drugs for Multiple Synostoses Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cladribine Approved, Investigational Phase 2 4291-63-8 20279
2
rituximab Approved Phase 2 174722-31-7 10201696
3 Cordycepin Investigational Phase 2 73-03-0
4 2-chloro-3'-deoxyadenosine Phase 2
5 Antimetabolites Phase 2
6 Antimetabolites, Antineoplastic Phase 2
7 Antirheumatic Agents Phase 2
8 Immunosuppressive Agents Phase 2
9 interferons Phase 2
10 Olive Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Hairy Cell Leukaemia Variant and Relapsing Hairy Cell Leukaemia With Cladribine Plus Rituximab Completed NCT02157181 Phase 2 2CdA +/- Rituximab
2 Cardio Protective Properties of a Yogurt Enriched With Bioactive Lipids of Olive Oil Products Unknown status NCT02259205 Not Applicable

Search NIH Clinical Center for Multiple Synostoses Syndrome 2

Genetic Tests for Multiple Synostoses Syndrome 2

Genetic tests related to Multiple Synostoses Syndrome 2:

# Genetic test Affiliating Genes
1 Multiple Synostoses Syndrome 2 29 GDF5

Anatomical Context for Multiple Synostoses Syndrome 2

MalaCards organs/tissues related to Multiple Synostoses Syndrome 2:

41
Bone

Publications for Multiple Synostoses Syndrome 2

Variations for Multiple Synostoses Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 GDF5 p.Leu441Pro VAR_017408 rs28936683
2 GDF5 p.Arg438Leu VAR_026545
3 GDF5 p.Ser475Asn VAR_037982
4 GDF5 p.Trp414Arg VAR_073141
5 GDF5 p.Asn445Lys VAR_073142
6 GDF5 p.Asn445Thr VAR_073143

ClinVar genetic disease variations for Multiple Synostoses Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.1313G> T (p.Arg438Leu) single nucleotide variant Pathogenic rs74315388 GRCh37 Chromosome 20, 34021900: 34021900
2 GDF5 NM_000557.4(GDF5): c.1313G> T (p.Arg438Leu) single nucleotide variant Pathogenic rs74315388 GRCh38 Chromosome 20, 35434102: 35434102
3 GDF5 NM_000557.4(GDF5): c.1424G> A (p.Ser475Asn) single nucleotide variant Pathogenic rs121909347 GRCh37 Chromosome 20, 34021789: 34021789
4 GDF5 NM_000557.4(GDF5): c.1424G> A (p.Ser475Asn) single nucleotide variant Pathogenic rs121909347 GRCh38 Chromosome 20, 35433991: 35433991

Expression for Multiple Synostoses Syndrome 2

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 2.

Pathways for Multiple Synostoses Syndrome 2

GO Terms for Multiple Synostoses Syndrome 2

Sources for Multiple Synostoses Syndrome 2

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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