SYNS4
MCID: MLT166
MIFTS: 21

Multiple Synostoses Syndrome 4 (SYNS4)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
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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:



External Ids:

OMIM® 57 617898
OMIM Phenotypic Series 57 PS186500
MeSH 43 D013580

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)

Related Diseases for Multiple Synostoses Syndrome 4

Symptoms & Phenotypes for Multiple Synostoses Syndrome 4

Human phenotypes related to Multiple Synostoses Syndrome 4:

30 (show all 6)
# Description HPO Frequency Orphanet 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)

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 28 GDF6

Anatomical Context for Multiple Synostoses Syndrome 4

Organs/tissues related to Multiple Synostoses Syndrome 4:

MalaCards : Bone

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
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
26643732 2016
3
GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment. 62
34573339 2021
4
siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference. 62
34440463 2021
5
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. 62
30733656 2019

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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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