MCID: MLT072
MIFTS: 45

Multiple Synostoses Syndrome

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

Aliases & Classifications for Multiple Synostoses Syndrome

MalaCards integrated aliases for Multiple Synostoses Syndrome:

Name: Multiple Synostoses Syndrome 12 59 15
Symphalangism-Brachydactyly Syndrome 59 73
Deafness-Hermann Type Symphalangism Syndrome 59
Multiple Synostosis Syndrome 73
Facio-Audio-Symphalangism 59
Wl Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
multiple synostoses syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050794
Orphanet 59 ORPHA3237
UMLS via Orphanet 74 C0175700 C0342282
ICD10 via Orphanet 34 Q78.8
UMLS 73 C0342282

Summaries for Multiple Synostoses Syndrome

Disease Ontology : 12 A dysostosis that is characterized by premature joint ankylosis and has material basis in autosomal dominant inhertitance.

MalaCards based summary : Multiple Synostoses Syndrome, also known as symphalangism-brachydactyly syndrome, is related to multiple synostoses syndrome 2 and multiple synostoses syndrome 3, and has symptoms including waddling gait An important gene associated with Multiple Synostoses Syndrome is NOG (Noggin), and among its related pathways/superpathways are Signaling by GPCR and ERK Signaling. Affiliated tissues include bone, and related phenotypes are conductive hearing impairment and brachydactyly

Related Diseases for Multiple Synostoses Syndrome

Graphical network of the top 20 diseases related to Multiple Synostoses Syndrome:



Diseases related to Multiple Synostoses Syndrome

Symptoms & Phenotypes for Multiple Synostoses Syndrome

Human phenotypes related to Multiple Synostoses Syndrome:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
2 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
3 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
4 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
5 symphalangism affecting the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009773
6 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
7 cone-shaped epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0010579
8 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
9 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
10 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597

UMLS symptoms related to Multiple Synostoses Syndrome:


waddling gait

GenomeRNAi Phenotypes related to Multiple Synostoses Syndrome according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.18 ACVR2B
2 Decreased viability GR00173-A 10.18 BMPR2
3 Decreased viability GR00221-A-1 10.18 BMPR1A BMPR2 CSF1R IHH ACVR2B
4 Decreased viability GR00221-A-2 10.18 BMPR1A IHH ACVR2B
5 Decreased viability GR00221-A-3 10.18 BMPR1A BMPR2
6 Decreased viability GR00221-A-4 10.18 BMPR1A BMPR2 CSF1R ACVR2B
7 Decreased viability GR00301-A 10.18 BMPR2
8 Decreased viability GR00402-S-2 10.18 BMPR2 CSF1R ACVR2B BMPR1A
9 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.73 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
10 Increased cell viability after pRB stimulation GR00230-A-1 9.35 ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
11 Increased simian virus 40 (SV40) infection GR00356-A-2 8.8 BMPR1B BMPR2 CSF1R

MGI Mouse Phenotypes related to Multiple Synostoses Syndrome:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 NOG SOX6 SOX9 WNT2 GDF6 IHH
2 cellular MP:0005384 10.34 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B IHH
3 cardiovascular system MP:0005385 10.31 ACVR2A ACVR2B BMP4 BMPR1A BMPR2 FGF9
4 mortality/aging MP:0010768 10.31 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
5 craniofacial MP:0005382 10.29 ACVR2A BMP4 BMPR1A BMPR1B CSF1R FGF9
6 embryo MP:0005380 10.28 SOX9 WNT2 ACVR2A ACVR2B BMP4 BMPR1A
7 homeostasis/metabolism MP:0005376 10.22 ACVR2A ACVR2B BMP4 BMPR1A BMPR2 CSF1R
8 limbs/digits/tail MP:0005371 10.2 CSF1R FGF9 GDF5 GDF6 IHH NOG
9 endocrine/exocrine gland MP:0005379 10.18 ACVR2A BMP4 BMPR1A BMPR1B CSF1R FGF9
10 hearing/vestibular/ear MP:0005377 10.1 ACVR2A BMP4 BMPR1A CSF1R FGF9 GDF6
11 nervous system MP:0003631 10.07 ACVR2A BMP4 BMPR1A BMPR1B BMPR2 NOG
12 muscle MP:0005369 10.01 NOG SOX9 ACVR2B BMP4 BMPR1A BMPR2
13 normal MP:0002873 9.97 BMP4 BMPR1A BMPR1B BMPR2 CSF1R FGF9
14 reproductive system MP:0005389 9.91 ACVR2A BMP4 BMPR1A BMPR1B CSF1R FGF9
15 respiratory system MP:0005388 9.9 WNT2 ACVR2A ACVR2B BMP4 BMPR1A BMPR2
16 skeleton MP:0005390 9.8 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
17 vision/eye MP:0005391 9.28 ACVR2A BMP4 BMPR1A BMPR1B FGF9 GDF6

Drugs & Therapeutics for Multiple Synostoses Syndrome

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome

Genetic Tests for Multiple Synostoses Syndrome

Anatomical Context for Multiple Synostoses Syndrome

MalaCards organs/tissues related to Multiple Synostoses Syndrome:

41
Bone

Publications for Multiple Synostoses Syndrome

Articles related to Multiple Synostoses Syndrome:

# Title Authors Year
1
Further delineation of the GDF6 related multiple synostoses syndrome. ( 29130651 )
2018
2
A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. ( 28169396 )
2017
3
Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. ( 25543012 )
2015
4
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. ( 26643732 )
2015
5
Multiple synostoses syndrome inA three members of a family displaying a novel mutation inA NOGGIN gene. ( 23732071 )
2013
6
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. ( 21976273 )
2012
7
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. ( 19589401 )
2009
8
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. ( 9634519 )
1998
9
A case of multiple synostoses syndrome. ( 7401380 )
1980
10
The multiple synostoses syndrome. A plea for simplicity. ( 709952 )
1978

Variations for Multiple Synostoses Syndrome

Expression for Multiple Synostoses Syndrome

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

Pathways for Multiple Synostoses Syndrome

Pathways related to Multiple Synostoses Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 FGF9
2
Show member pathways
13.73 ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
3
Show member pathways
13.55 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
4
Show member pathways
13.3 ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
5
Show member pathways
13.18 ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
6
Show member pathways
12.44 ACVR2A ACVR2B BMP4 BMPR1A BMPR2 NOG
7
Show member pathways
12.4 ACVR2B BMP4 BMPR1A BMPR1B BMPR2
8
Show member pathways
12.2 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
9 12.02 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
10 11.99 BMP4 BMPR1A BMPR1B BMPR2 GDF5 GDF6
11 11.98 BMP4 BMPR1A NOG SOX9 WNT2
12
Show member pathways
11.66 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 NOG
13 11.64 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
14 11.61 BMPR1A IHH SOX6 SOX9
15 11.45 BMP4 CSF1R GDF5 NOG WNT2
16 11.41 BMP4 BMPR1A BMPR2
17 11.2 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
18 11.08 BMP4 BMPR1A BMPR1B BMPR2

GO Terms for Multiple Synostoses Syndrome

Cellular components related to Multiple Synostoses Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 BMP4 FGF9 GDF5 GDF6 IHH NOG
2 extracellular space GO:0005615 9.56 BMP4 BMPR2 FGF9 GDF5 GDF6 IHH
3 HFE-transferrin receptor complex GO:1990712 9.16 BMPR1A BMPR1B
4 receptor complex GO:0043235 9.02 ACVR2A ACVR2B BMPR1B BMPR2 CSF1R

Biological processes related to Multiple Synostoses Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.98 ACVR2B BMP4 BMPR1A FGF9 WNT2
2 signal transduction by protein phosphorylation GO:0023014 9.97 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
3 positive regulation of epithelial cell proliferation GO:0050679 9.97 BMP4 BMPR1A FGF9 IHH NOG SOX9
4 osteoblast differentiation GO:0001649 9.96 BMP4 FGF9 IHH NOG
5 anterior/posterior pattern specification GO:0009952 9.96 ACVR2A ACVR2B BMPR1A BMPR2
6 male gonad development GO:0008584 9.95 ACVR2A FGF9 SOX9
7 positive regulation of osteoblast differentiation GO:0045669 9.95 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.94 BMPR1A BMPR2 GDF5
9 ossification GO:0001503 9.94 BMP4 IHH SOX9
10 cell fate commitment GO:0045165 9.94 BMP4 SOX6 SOX9 WNT2
11 positive regulation of neuron differentiation GO:0045666 9.93 BMP4 GDF5 GDF6
12 post-embryonic development GO:0009791 9.93 ACVR2B BMP4 SOX6
13 embryonic digit morphogenesis GO:0042733 9.93 BMP4 BMPR1A IHH NOG
14 pattern specification process GO:0007389 9.93 ACVR2B BMPR1A IHH NOG
15 positive regulation of endothelial cell proliferation GO:0001938 9.92 BMP4 BMPR2 WNT2
16 retina development in camera-type eye GO:0060041 9.92 BMPR1B BMPR2 SOX9
17 camera-type eye development GO:0043010 9.92 BMP4 BMPR1B IHH
18 outflow tract morphogenesis GO:0003151 9.92 BMP4 BMPR1A BMPR2 NOG
19 negative regulation of epithelial cell proliferation GO:0050680 9.91 BMP4 GDF5 SOX9
20 SMAD protein signal transduction GO:0060395 9.91 BMP4 GDF5 GDF6
21 cell development GO:0048468 9.91 BMP4 GDF5 GDF6
22 embryonic skeletal system development GO:0048706 9.91 ACVR2A BMP4 FGF9 NOG
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.91 BMPR1A FGF9 IHH SOX9 WNT2
24 cellular response to transforming growth factor beta stimulus GO:0071560 9.9 SOX6 SOX9 WNT2
25 regulation of MAPK cascade GO:0043408 9.9 BMP4 GDF5 GDF6
26 odontogenesis of dentin-containing tooth GO:0042475 9.9 ACVR2B BMP4 BMPR1A
27 embryonic limb morphogenesis GO:0030326 9.89 BMP4 FGF9 GDF5
28 mesoderm formation GO:0001707 9.89 BMP4 BMPR1A BMPR2 NOG
29 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.88 ACVR2A BMP4 BMPR1A BMPR2 GDF5 GDF6
30 dorsal/ventral pattern formation GO:0009953 9.87 BMPR1A BMPR1B NOG
31 positive regulation of cardiac muscle cell proliferation GO:0060045 9.86 BMPR1A FGF9 WNT2
32 positive regulation of BMP signaling pathway GO:0030513 9.85 BMP4 BMPR2 GDF5
33 endoderm development GO:0007492 9.85 BMP4 BMPR1A NOG
34 pituitary gland development GO:0021983 9.85 BMP4 BMPR1A NOG
35 activin receptor signaling pathway GO:0032924 9.85 ACVR2A ACVR2B BMPR2 GDF6
36 positive regulation of chondrocyte differentiation GO:0032332 9.85 BMPR1B GDF5 GDF6 SOX6 SOX9
37 chondrocyte differentiation GO:0002062 9.85 BMP4 BMPR1A BMPR1B FGF9 GDF5 SOX9
38 outflow tract septum morphogenesis GO:0003148 9.84 BMP4 BMPR1A BMPR2
39 negative regulation of chondrocyte differentiation GO:0032331 9.83 BMP4 GDF5 SOX9
40 endocardial cushion morphogenesis GO:0003203 9.83 BMPR1A NOG SOX9
41 pharyngeal arch artery morphogenesis GO:0061626 9.83 BMP4 BMPR1A BMPR2 NOG
42 positive regulation of cartilage development GO:0061036 9.83 BMP4 BMPR1B BMPR2 SOX6 SOX9
43 chondrocyte development GO:0002063 9.82 BMPR1B BMPR2 SOX9
44 positive regulation of bone mineralization GO:0030501 9.8 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
45 anatomical structure formation involved in morphogenesis GO:0048646 9.79 BMP4 NOG
46 positive regulation of activin receptor signaling pathway GO:0032927 9.79 ACVR2A ACVR2B FGF9
47 negative regulation of myoblast differentiation GO:0045662 9.78 BMP4 SOX9
48 neural crest cell development GO:0014032 9.78 BMPR1A SOX9
49 lung morphogenesis GO:0060425 9.78 BMP4 NOG
50 cell fate specification GO:0001708 9.78 IHH SOX9

Molecular functions related to Multiple Synostoses Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.93 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
2 protein serine/threonine kinase activity GO:0004674 9.88 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
3 protein kinase activity GO:0004672 9.87 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
4 cytokine activity GO:0005125 9.8 BMP4 GDF5 GDF6 WNT2
5 growth factor activity GO:0008083 9.73 BMP4 FGF9 GDF5 GDF6
6 transforming growth factor beta receptor binding GO:0005160 9.58 BMP4 GDF5 GDF6
7 growth factor binding GO:0019838 9.56 ACVR2A ACVR2B BMPR2 CSF1R
8 cytokine binding GO:0019955 9.54 CSF1R NOG
9 activin binding GO:0048185 9.52 ACVR2A ACVR2B
10 BMP binding GO:0036122 9.51 BMPR2 GDF5
11 activin receptor activity, type II GO:0016362 9.37 ACVR2B BMPR2
12 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.35 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
13 BMP receptor activity GO:0098821 9.33 ACVR2A BMPR1A BMPR2
14 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.02 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2

Sources for Multiple Synostoses Syndrome

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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