Multiple Synostoses Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Multiple Synostoses Syndrome 4

MalaCards integrated aliases for Multiple Synostoses Syndrome 4:

Name: Multiple Synostoses Syndrome 4 ⁵⁷ ⁷² ²⁹ ⁶

Syns4 ⁵⁷ ⁷²

Syndrome, Synostoses, Multiple, Type 4 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset of hearing loss, ranging from the first decade to the fifth decade of life

HPO:

³¹

multiple synostoses syndrome 4:
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 617898

OMIM Phenotypic Series ⁵⁷ PS186500

MeSH ⁴⁴ D013580

MedGen ⁴¹ C4693531 CN842246

SNOMED-CT via HPO ⁶⁸ 11543004 203534009 203541003 more

Sources

Summaries for Multiple Synostoses Syndrome 4

UniProtKB/Swiss-Prot : ⁷² Multiple synostoses syndrome 4: 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. SYNS4 inheritance is autosomal dominant.

MalaCards based summary : Multiple Synostoses Syndrome 4, is also known as syns4. An important gene associated with Multiple Synostoses Syndrome 4 is GDF6 (Growth Differentiation Factor 6). Related phenotypes are brachydactyly and pes planus

OMIM® : ⁵⁷ Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). (617898) (Updated 05-Apr-2021)

Sources

Related Diseases for Multiple Synostoses Syndrome 4

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 4

Human phenotypes related to Multiple Synostoses Syndrome 4:

³¹ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	brachydactyly ³¹	very rare (1%)	HP:0001156
2	pes planus ³¹		HP:0001763
3	otosclerosis ³¹		HP:0000362
4	tarsal synostosis ³¹		HP:0008368
5	broad foot ³¹		HP:0001769
6	overlapping toe ³¹		HP:0001845

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Ears:
otosclerosis
stapes fixation
conductive hearing loss, progressive

Skeletal Hands:
brachydactyly (in some patients)
carpal fusions
fifth-finger clinodactyly (in some patients)

Skeletal Feet:
flat feet
overlapping toes
symphalangism
broad feet
tarsal fusions

Clinical features from OMIM®:

617898 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Multiple Synostoses Syndrome 4

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome 4

Sources

Genetic Tests for Multiple Synostoses Syndrome 4

Genetic tests related to Multiple Synostoses Syndrome 4:

#	Genetic test	Affiliating Genes
1	Multiple Synostoses Syndrome 4 ²⁹	GDF6

Sources

Anatomical Context for Multiple Synostoses Syndrome 4

Sources

Publications for Multiple Synostoses Syndrome 4

Articles related to Multiple Synostoses Syndrome 4:

#	Title	Authors	PMID	Year
1	Further delineation of the GDF6 related multiple synostoses syndrome. ⁶ ⁵⁷ ⁶¹	Terhal PA...van Haaften G	29130651	2018
2	A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. ⁶¹ ⁵⁷ ⁶	Wang J...Shen Y	26643732	2016
3	A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. ⁶¹	Drage Berentsen R...Houge G	30733656	2019

Sources

Genes for Multiple Synostoses Syndrome 4

Genes related to Multiple Synostoses Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDF6	Growth Differentiation Factor 6	Protein Coding	1317.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26643732

Sources

Variations for Multiple Synostoses Syndrome 4

ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GDF6	NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn)	SNV	Pathogenic	495116	rs1554571213	GRCh37: 8:97156829-97156829 GRCh38: 8:96144601-96144601
2	GDF6	NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg)	SNV	Uncertain significance	495115	rs1554571225	GRCh37: 8:97156872-97156872 GRCh38: 8:96144644-96144644

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 4:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Tyr444Asn	VAR_075366	rs155457121

Sources

Expression for Multiple Synostoses Syndrome 4

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 4.

Sources

Pathways for Multiple Synostoses Syndrome 4

Sources

GO Terms for Multiple Synostoses Syndrome 4

Sources

Sources for Multiple Synostoses Syndrome 4

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 EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Multiple Synostoses Syndrome 4 (SYNS4)

Aliases & Classifications for Multiple Synostoses Syndrome 4

MalaCards integrated aliases for Multiple Synostoses Syndrome 4:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Multiple Synostoses Syndrome 4

Related Diseases for Multiple Synostoses Syndrome 4

Diseases in the Multiple Synostoses Syndrome family:

Symptoms & Phenotypes for Multiple Synostoses Syndrome 4

Human phenotypes related to Multiple Synostoses Syndrome 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Multiple Synostoses Syndrome 4

Genetic Tests for Multiple Synostoses Syndrome 4

Genetic tests related to Multiple Synostoses Syndrome 4:

Anatomical Context for Multiple Synostoses Syndrome 4

Publications for Multiple Synostoses Syndrome 4

Articles related to Multiple Synostoses Syndrome 4:

Genes for Multiple Synostoses Syndrome 4

Genes related to Multiple Synostoses Syndrome 4 (1 elite genes):

Variations for Multiple Synostoses Syndrome 4

ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 4:

Expression for Multiple Synostoses Syndrome 4

Pathways for Multiple Synostoses Syndrome 4

GO Terms for Multiple Synostoses Syndrome 4

Sources for Multiple Synostoses Syndrome 4