Multiple Synostoses Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 610017

MedGen ⁴² C1832708

MeSH ⁴⁴ D013580

SNOMED-CT via HPO ⁶⁹ 263681008 249321001 43476002 more

UMLS ⁷³ C1832708

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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 talipes equinovarus and brachydactyly

Description from OMIM: 610017

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Related Diseases for Multiple Synostoses Syndrome 2

Diseases in the Multiple Synostoses Syndrome family:

Multiple Synostoses Syndrome 1	Multiple Synostoses Syndrome 2
Multiple Synostoses Syndrome 3	Multiple Synostoses Syndrome 4

Sources

Symptoms & Phenotypes for Multiple Synostoses Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

Head And Neck Nose:
broad hemicyclindrical nose

Skeletal Limbs:
humeroradial synostosis

Skeletal Spine:
vertebral fusions

Clinical features from OMIM:

610017

Human phenotypes related to Multiple Synostoses Syndrome 2:

³² (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	talipes equinovarus ³²	occasional (7.5%)	HP:0001762
2	brachydactyly ³²		HP:0001156
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

Sources

Drugs & Therapeutics for Multiple Synostoses Syndrome 2

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

(show all 11)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Cladribine

Approved, Investigational

Phase 2

4291-63-8

20279

Synonyms:

(2R,3S,5R)-5-(6-amino-2-chloropurin-9-yl)-2-(hydroxymethyl)oxolan-3-ol

(2R,3S,5R)-5-(6-amino-2-Chloropurin-9-yl)-2-(hydroxymethyl)oxolan-3-ol

2 Chlorodeoxyadenosine

24757-90-2

2CdA

2-CdA

2-chloro-2'-Deoxyadenosine

2-Chloro-2'-deoxyadenosine

2-chloro-2'-Deoxy-b-adenosine

2-chloro-2'-Deoxy-beta-adenosine

2-Chloro-2'-deoxy-beta-adenosine

2-chloro-2'-Deoxy-β-adenosine

2-chloro-6-amino-9-(2-Deoxy-b-D-erythro-pentofuranosyl)purine

2-chloro-6-amino-9-(2-deoxy-beta-D-erythro-pentofuranosyl)purine

2-chloro-6-amino-9-(2-Deoxy-beta-D-erythro-pentofuranosyl)purine

2-Chloro-6-amino-9-(2-deoxy-beta-D-erythropentofuranosyl)purine

2-chloro-6-amino-9-(2-Deoxy-β-D-erythro-pentofuranosyl)purine

2-chloro-deoxyadenosine

2-chloro-Deoxyadenosine

2-Chlorodeoxyadenosine

2ClAdo

2'-Deoxy-2-chloroadenosine

4291-63-8

AC1L2FXP

AC-7591

Adenosine, 2-chloro-2'-deoxy

BRN 0624220

C10H12ClN5O3.C3H8

CHEBI:567361

CHEMBL1619

Chlorodeoxyadenosine

CID20279

CL9

Cladarabine

Cladaribine

cladribina

Cladribina

cladribine

Cladribine

Cladribine (JAN/USAN/INN)

Cladribine [USAN:INN:BAN]

cladribinum

Cladribinum

CldAdo

CPD000058553

D01370

D017338

DB00242

FT-0080707

HMS2052K13

HSDB 7564

Leustat

Leustatin

Leustatin (TN)

Leustatin, 2-chlorodeoxyadenosine, Cladribine

Litak

LS-15109

MLS000028377

MLS000028484

MLS000759397

MLS001077345

MolPort-002-054-532

MolPort-005-935-074

Movectro

Mylinax

NCGC00022567-05

NCGC00164384-01

NSC 105014

NSC 105014-F

NSC-105014

RWJ 26251

RWJ-26251

RWJ-26251-000

S1199_Selleck

SAM001246526

SMR000058553

UNII-47M74X9YT5

ZINC03798064

2

rituximab

Approved

Phase 2

174722-31-7

10201696

3

Cordycepin

Investigational

Phase 2

73-03-0

4

Immunosuppressive Agents

Phase 2

5

Antirheumatic Agents

Phase 2

6

Immunologic Factors

Phase 2

7

Antimetabolites, Antineoplastic

Phase 2

8

Antimetabolites

Phase 2

9

2-chloro-3'-deoxyadenosine

Phase 2

10

interferons

Phase 2

11

Olive

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

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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

Sources

Anatomical Context for Multiple Synostoses Syndrome 2

MalaCards organs/tissues related to Multiple Synostoses Syndrome 2:

⁴¹

Bone

Sources

Publications for Multiple Synostoses Syndrome 2

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Genes for Multiple Synostoses Syndrome 2

Genes related to Multiple Synostoses Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GDF5	Growth Differentiation Factor 5	Protein Coding	1328.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)

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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

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Expression for Multiple Synostoses Syndrome 2

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

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Pathways for Multiple Synostoses Syndrome 2

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GO Terms for Multiple Synostoses Syndrome 2

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Sources for Multiple Synostoses Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Multiple Synostoses Syndrome 2 (SYNS2)

Aliases & Classifications for Multiple Synostoses Syndrome 2

MalaCards integrated aliases for Multiple Synostoses Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Multiple Synostoses Syndrome 2

Related Diseases for Multiple Synostoses Syndrome 2

Diseases in the Multiple Synostoses Syndrome family:

Symptoms & Phenotypes for Multiple Synostoses Syndrome 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Multiple Synostoses Syndrome 2:

Drugs & Therapeutics for Multiple Synostoses Syndrome 2

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

Interventional clinical trials:

Genetic Tests for Multiple Synostoses Syndrome 2

Genetic tests related to Multiple Synostoses Syndrome 2:

Anatomical Context for Multiple Synostoses Syndrome 2

MalaCards organs/tissues related to Multiple Synostoses Syndrome 2:

Publications for Multiple Synostoses Syndrome 2

Genes for Multiple Synostoses Syndrome 2

Genes related to Multiple Synostoses Syndrome 2 (1 elite genes):

Variations for Multiple Synostoses Syndrome 2

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

ClinVar genetic disease variations for Multiple Synostoses Syndrome 2:

Expression for Multiple Synostoses Syndrome 2

Pathways for Multiple Synostoses Syndrome 2

GO Terms for Multiple Synostoses Syndrome 2

Sources for Multiple Synostoses Syndrome 2