SYNS4
MCID: MLT166
MIFTS: 20

Multiple Synostoses Syndrome 4 (SYNS4)

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

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:



External Ids:

OMIM® 57 617898
OMIM Phenotypic Series 57 PS186500
MeSH 44 D013580

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)

Related Diseases for Multiple Synostoses Syndrome 4

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)

Drugs & Therapeutics for Multiple Synostoses Syndrome 4

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

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

Anatomical Context for Multiple Synostoses Syndrome 4

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
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
26643732 2016
3
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. 61
30733656 2019

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

Expression for Multiple Synostoses Syndrome 4

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

Pathways for Multiple Synostoses Syndrome 4

GO Terms for Multiple Synostoses Syndrome 4

Sources for Multiple Synostoses Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....