SYNS3
MCID: MLT078
MIFTS: 24

Multiple Synostoses Syndrome 3 (SYNS3)

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

Aliases & Classifications for Multiple Synostoses Syndrome 3

MalaCards integrated aliases for Multiple Synostoses Syndrome 3:

Name: Multiple Synostoses Syndrome 3 57 72 29 13 6 70
Syns3 57 72
Synostoses Syndrome, Multiple, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
multiple synostoses syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612961
OMIM Phenotypic Series 57 PS186500
MeSH 44 D013580
MedGen 41 C2751826
UMLS 70 C2751826

Summaries for Multiple Synostoses Syndrome 3

UniProtKB/Swiss-Prot : 72 Multiple synostoses syndrome 3: 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.

MalaCards based summary : Multiple Synostoses Syndrome 3, is also known as syns3. An important gene associated with Multiple Synostoses Syndrome 3 is FGF9 (Fibroblast Growth Factor 9). Related phenotypes are broad thumb and dolichocephaly

More information from OMIM: 612961 PS186500

Related Diseases for Multiple Synostoses Syndrome 3

Symptoms & Phenotypes for Multiple Synostoses Syndrome 3

Human phenotypes related to Multiple Synostoses Syndrome 3:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 broad thumb 31 very rare (1%) HP:0011304
2 dolichocephaly 31 very rare (1%) HP:0000268
3 proptosis 31 very rare (1%) HP:0000520
4 hallux varus 31 very rare (1%) HP:0008080
5 broad hallux 31 very rare (1%) HP:0010055
6 cutaneous syndactyly of toes 31 very rare (1%) HP:0010621
7 cleft palate 31 HP:0000175
8 cubitus valgus 31 HP:0002967
9 humeroradial synostosis 31 HP:0003041
10 metacarpal synostosis 31 HP:0009701
11 metatarsal synostosis 31 HP:0001440
12 limited interphalangeal movement 31 HP:0006064

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Limbs:
cubitus valgus
humeroradial synostoses
semidislocation of elbow joint

Skeletal Hands:
broad thumbs (in some patients)
fusion of the interphalangeal joints
fusion of the first metacarpal and trapezium
limitation of finger joint flexion
limitation of carpal and interphalangeal joint movement, progressive
more
Head And Neck Eyes:
proptosis (in some patients)

Skeletal Skull:
sagittal suture fusion (in some patients)

Skeletal Feet:
cutaneous syndactyly of toes (in some patients)
broad halluces (in some patients)
fusion of the first metatarsal, cuneiform, and navicular
fusion of interphalangeal joints
limitation of tarsal and interphalangeal joint movement, progressive
more
Head And Neck Head:
dolichocephaly (in some patients)

Head And Neck Mouth:
cleft palate (in 1 patient)

Skeletal Spine:
fusion of lumbar joints (l2-3 and l4-5, in some patients)

Clinical features from OMIM®:

612961 (Updated 20-May-2021)

Drugs & Therapeutics for Multiple Synostoses Syndrome 3

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome 3

Genetic Tests for Multiple Synostoses Syndrome 3

Genetic tests related to Multiple Synostoses Syndrome 3:

# Genetic test Affiliating Genes
1 Multiple Synostoses Syndrome 3 29 FGF9

Anatomical Context for Multiple Synostoses Syndrome 3

Publications for Multiple Synostoses Syndrome 3

Articles related to Multiple Synostoses Syndrome 3:

# Title Authors PMID Year
1
FGF9 mutation causes craniosynostosis along with multiple synostoses. 57 6 61
28730625 2017
2
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 57 6
19589401 2009
3
A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. 57 61
28169396 2017
4
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3. 61
33174625 2021
5
Fgf9 Negatively Regulates Bone Mass by Inhibiting Osteogenesis and Promoting Osteoclastogenesis Via MAPK and PI3K/AKT Signaling. 61
33316109 2020

Variations for Multiple Synostoses Syndrome 3

ClinVar genetic disease variations for Multiple Synostoses Syndrome 3:

6 (show top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF9 NM_002010.3(FGF9):c.184A>G (p.Arg62Gly) SNV Pathogenic 444874 rs1555223925 GRCh37: 13:22246235-22246235
GRCh38: 13:21672096-21672096
2 FGF9 NM_002010.3(FGF9):c.296G>A (p.Ser99Asn) SNV Pathogenic 8705 rs121918322 GRCh37: 13:22255199-22255199
GRCh38: 13:21681060-21681060
3 FGF9 NM_002010.3(FGF9):c.*2782A>G SNV Uncertain significance 883755 GRCh37: 13:22278356-22278356
GRCh38: 13:21704217-21704217
4 FGF9 NM_002010.3(FGF9):c.*2739G>A SNV Uncertain significance 883754 GRCh37: 13:22278313-22278313
GRCh38: 13:21704174-21704174
5 FGF9 NM_002010.3(FGF9):c.*1225T>C SNV Uncertain significance 883703 GRCh37: 13:22276799-22276799
GRCh38: 13:21702660-21702660
6 FGF9 NM_002010.3(FGF9):c.*1186A>G SNV Uncertain significance 883702 GRCh37: 13:22276760-22276760
GRCh38: 13:21702621-21702621
7 FGF9 NM_002010.3(FGF9):c.*56C>T SNV Uncertain significance 311427 rs192733031 GRCh37: 13:22275630-22275630
GRCh38: 13:21701491-21701491
8 FGF9 NM_002010.3(FGF9):c.*737G>A SNV Uncertain significance 311451 rs886050056 GRCh37: 13:22276311-22276311
GRCh38: 13:21702172-21702172
9 FGF9 NM_002010.3(FGF9):c.-452A>T SNV Uncertain significance 311408 rs886050041 GRCh37: 13:22245600-22245600
GRCh38: 13:21671461-21671461
10 FGF9 NM_002010.3(FGF9):c.*124C>A SNV Uncertain significance 311428 rs886050045 GRCh37: 13:22275698-22275698
GRCh38: 13:21701559-21701559
11 FGF9 NM_002010.3(FGF9):c.*566T>A SNV Uncertain significance 311448 rs184771986 GRCh37: 13:22276140-22276140
GRCh38: 13:21702001-21702001
12 FGF9 NM_002010.3(FGF9):c.*2787G>T SNV Uncertain significance 311474 rs758942316 GRCh37: 13:22278361-22278361
GRCh38: 13:21704222-21704222
13 FGF9 NM_002010.3(FGF9):c.*1471C>T SNV Uncertain significance 311457 rs569079834 GRCh37: 13:22277045-22277045
GRCh38: 13:21702906-21702906
14 FGF9 NM_002010.3(FGF9):c.-151G>T SNV Uncertain significance 311414 rs542009378 GRCh37: 13:22245901-22245901
GRCh38: 13:21671762-21671762
15 FGF9 NM_002010.3(FGF9):c.-777G>T SNV Uncertain significance 311403 rs567350418 GRCh37: 13:22245275-22245275
GRCh38: 13:21671136-21671136
16 FGF9 NM_002010.3(FGF9):c.*1903C>T SNV Uncertain significance 311463 rs886050058 GRCh37: 13:22277477-22277477
GRCh38: 13:21703338-21703338
17 FGF9 NM_002010.3(FGF9):c.-703C>T SNV Uncertain significance 311406 rs370588961 GRCh37: 13:22245349-22245349
GRCh38: 13:21671210-21671210
18 FGF9 NM_002010.3(FGF9):c.*737G>T SNV Uncertain significance 311452 rs886050056 GRCh37: 13:22276311-22276311
GRCh38: 13:21702172-21702172
19 FGF9 NM_002010.3(FGF9):c.*2586A>G SNV Uncertain significance 311472 rs886050063 GRCh37: 13:22278160-22278160
GRCh38: 13:21704021-21704021
20 FGF9 NM_002010.3(FGF9):c.-256G>A SNV Uncertain significance 311412 rs780183885 GRCh37: 13:22245796-22245796
GRCh38: 13:21671657-21671657
21 FGF9 NM_002010.3(FGF9):c.*2965C>T SNV Uncertain significance 311475 rs181292662 GRCh37: 13:22278539-22278539
GRCh38: 13:21704400-21704400
22 FGF9 NM_002010.3(FGF9):c.*713T>C SNV Uncertain significance 311449 rs886050054 GRCh37: 13:22276287-22276287
GRCh38: 13:21702148-21702148
23 FGF9 NM_002010.3(FGF9):c.*306A>G SNV Uncertain significance 311438 rs75400485 GRCh37: 13:22275880-22275880
GRCh38: 13:21701741-21701741
24 FGF9 NM_002010.3(FGF9):c.*2363A>G SNV Uncertain significance 311467 rs886050060 GRCh37: 13:22277937-22277937
GRCh38: 13:21703798-21703798
25 FGF9 NM_002010.3(FGF9):c.*2186T>A SNV Uncertain significance 311464 rs199639996 GRCh37: 13:22277760-22277760
GRCh38: 13:21703621-21703621
26 FGF9 NM_002010.3(FGF9):c.*736C>T SNV Uncertain significance 311450 rs886050055 GRCh37: 13:22276310-22276310
GRCh38: 13:21702171-21702171
27 FGF9 NM_002010.3(FGF9):c.*1360C>T SNV Uncertain significance 311456 rs564490885 GRCh37: 13:22276934-22276934
GRCh38: 13:21702795-21702795
28 FGF9 NM_002010.3(FGF9):c.*1847G>T SNV Uncertain significance 311461 rs577880272 GRCh37: 13:22277421-22277421
GRCh38: 13:21703282-21703282
29 FGF9 NM_002010.3(FGF9):c.-45C>T SNV Uncertain significance 311419 rs778769503 GRCh37: 13:22246007-22246007
GRCh38: 13:21671868-21671868
30 FGF9 NM_002010.3(FGF9):c.*1461T>C SNV Uncertain significance 881361 GRCh37: 13:22277035-22277035
GRCh38: 13:21702896-21702896
31 FGF9 NM_002010.3(FGF9):c.*1679A>G SNV Uncertain significance 881362 GRCh37: 13:22277253-22277253
GRCh38: 13:21703114-21703114
32 FGF9 NC_000013.11:g.21671064G>T SNV Uncertain significance 881703 GRCh37: 13:22245203-22245203
GRCh38: 13:21671064-21671064
33 FGF9 NM_002010.3(FGF9):c.-829C>T SNV Uncertain significance 881704 GRCh37: 13:22245223-22245223
GRCh38: 13:21671084-21671084
34 FGF9 NM_002010.3(FGF9):c.-767G>C SNV Uncertain significance 881705 GRCh37: 13:22245285-22245285
GRCh38: 13:21671146-21671146
35 FGF9 NM_002010.3(FGF9):c.*519C>T SNV Uncertain significance 882902 GRCh37: 13:22276093-22276093
GRCh38: 13:21701954-21701954
36 FGF9 NM_002010.3(FGF9):c.*1030A>G SNV Uncertain significance 883701 GRCh37: 13:22276604-22276604
GRCh38: 13:21702465-21702465
37 FGF9 NM_002010.3(FGF9):c.-796C>T SNV Uncertain significance 311402 rs549054241 GRCh37: 13:22245256-22245256
GRCh38: 13:21671117-21671117
38 FGF9 NM_002010.3(FGF9):c.*380C>G SNV Uncertain significance 311442 rs886050051 GRCh37: 13:22275954-22275954
GRCh38: 13:21701815-21701815
39 FGF9 NM_002010.3(FGF9):c.*2594G>A SNV Uncertain significance 882957 GRCh37: 13:22278168-22278168
GRCh38: 13:21704029-21704029
40 FGF9 NM_002010.3(FGF9):c.*2469G>C SNV Uncertain significance 882956 GRCh37: 13:22278043-22278043
GRCh38: 13:21703904-21703904
41 FGF9 NM_002010.3(FGF9):c.*2356A>C SNV Uncertain significance 882955 GRCh37: 13:22277930-22277930
GRCh38: 13:21703791-21703791
42 FGF9 NM_002010.3(FGF9):c.*702G>A SNV Uncertain significance 882907 GRCh37: 13:22276276-22276276
GRCh38: 13:21702137-21702137
43 FGF9 NM_002010.3(FGF9):c.*676G>A SNV Uncertain significance 882906 GRCh37: 13:22276250-22276250
GRCh38: 13:21702111-21702111
44 FGF9 NM_002010.3(FGF9):c.*586A>T SNV Uncertain significance 882905 GRCh37: 13:22276160-22276160
GRCh38: 13:21702021-21702021
45 FGF9 NM_002010.3(FGF9):c.*526A>C SNV Uncertain significance 882903 GRCh37: 13:22276100-22276100
GRCh38: 13:21701961-21701961
46 FGF9 NM_002010.3(FGF9):c.*2291A>C SNV Uncertain significance 881806 GRCh37: 13:22277865-22277865
GRCh38: 13:21703726-21703726
47 FGF9 NM_002010.3(FGF9):c.*2276T>C SNV Uncertain significance 881805 GRCh37: 13:22277850-22277850
GRCh38: 13:21703711-21703711
48 FGF9 NM_002010.3(FGF9):c.*2256C>T SNV Uncertain significance 881804 GRCh37: 13:22277830-22277830
GRCh38: 13:21703691-21703691
49 FGF9 NM_002010.3(FGF9):c.*2114C>T SNV Uncertain significance 881803 GRCh37: 13:22277688-22277688
GRCh38: 13:21703549-21703549
50 FGF9 NM_002010.3(FGF9):c.*278G>A SNV Uncertain significance 881306 GRCh37: 13:22275852-22275852
GRCh38: 13:21701713-21701713

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 FGF9 p.Ser99Asn VAR_063254 rs121918322

Expression for Multiple Synostoses Syndrome 3

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 3.

Pathways for Multiple Synostoses Syndrome 3

GO Terms for Multiple Synostoses Syndrome 3

Sources for Multiple Synostoses Syndrome 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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