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 ⁷³ ²⁸ ⁵

Syns4 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Ear diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617898

OMIM Phenotypic Series ⁵⁷ PS186500

MeSH ⁴³ D013580

MedGen ⁴⁰ C4693531 CN842246

SNOMED-CT via HPO ⁶⁹ 11543004 203534009 203541003 more

Sources

Summaries for Multiple Synostoses Syndrome 4

UniProtKB/Swiss-Prot: ⁷³ 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). Affiliated tissues include bone, and 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 08-Dec-2022)

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:

³⁰ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	brachydactyly ³⁰	Very rare (1%)	HP:0001156
2	pes planus ³⁰		HP:0001763
3	otosclerosis ³⁰		HP:0000362
4	broad foot ³⁰		HP:0001769
5	overlapping toe ³⁰		HP:0001845
6	tarsal synostosis ³⁰		HP:0008368

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

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 ²⁸	GDF6

Sources

Anatomical Context for Multiple Synostoses Syndrome 4

Organs/tissues related to Multiple Synostoses Syndrome 4:

MalaCards : Bone

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. ⁶² ⁵⁷ ⁵	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. ⁶² ⁵⁷ ⁵	Wang J...Shen Y	26643732	2016
3	GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment. ⁶²	Clarke RA...Eapen V	34573339	2021
4	siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference. ⁶²	Fang Z...Clarke RA	34440463	2021
5	A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. ⁶²	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	1307.88	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	26643732

Sources

Variations for Multiple Synostoses Syndrome 4

ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:

⁵

#	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:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Tyr444Asn	VAR_075366	rs1554571213

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 BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SYNS4 MCID: MLT166 MIFTS: 21	Multiple Synostoses Syndrome 4 (SYNS4) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Multiple Synostoses Syndrome 4 (SYNS4)

Aliases & Classifications for Multiple Synostoses Syndrome 4

MalaCards integrated aliases for Multiple Synostoses Syndrome 4:

Characteristics:

Inheritance:

OMIM®:

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

Organs/tissues related to 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