SYNS4
MCID: MLT166
MIFTS: 17

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 75 6
Syns4 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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
MedGen 42 CN842246
MeSH 44 D013580

Summaries for Multiple Synostoses Syndrome 4

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include bone, and related phenotypes are pes planus and brachydactyly

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)

Related Diseases for Multiple Synostoses Syndrome 4

Symptoms & Phenotypes for Multiple Synostoses Syndrome 4

Symptoms via clinical synopsis from OMIM:

57
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
symphalangism
broad feet
overlapping toes
tarsal fusions


Clinical features from OMIM:

617898

Human phenotypes related to Multiple Synostoses Syndrome 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pes planus 32 HP:0001763
2 brachydactyly 32 very rare (1%) HP:0001156
3 tarsal synostosis 32 HP:0008368
4 otosclerosis 32 HP:0000362
5 broad foot 32 HP:0001769
6 overlapping toe 32 HP:0001845

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

Anatomical Context for Multiple Synostoses Syndrome 4

MalaCards organs/tissues related to Multiple Synostoses Syndrome 4:

41
Bone

Publications for Multiple Synostoses Syndrome 4

Variations for Multiple Synostoses Syndrome 4

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

75
# Symbol AA change Variation ID SNP ID
1 GDF6 p.Tyr444Asn VAR_075366

ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF6 NM_001001557.3(GDF6): c.1287C> A (p.Ser429Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 96144644: 96144644
2 GDF6 NM_001001557.3(GDF6): c.1287C> A (p.Ser429Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 97156872: 97156872
3 GDF6 NM_001001557.3(GDF6): c.1330T> A (p.Tyr444Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 96144601: 96144601
4 GDF6 NM_001001557.3(GDF6): c.1330T> A (p.Tyr444Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 97156829: 97156829

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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