MCID: MLT072
MIFTS: 46

Multiple Synostoses Syndrome

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

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 brachydactyly and multiple synostoses syndrome 2, and has symptoms including waddling gait An important gene associated with Multiple Synostoses Syndrome is NOG (Noggin), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. Affiliated tissues include bone, and related phenotypes are joint stiffness and broad thumb

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

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 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.13 ACVR2B
2 Decreased viability GR00173-A 10.13 BMPR2
3 Decreased viability GR00221-A-1 10.13 ACVR2B BMPR1A BMPR2 CSF1R
4 Decreased viability GR00221-A-2 10.13 ACVR2B BMPR1A
5 Decreased viability GR00221-A-3 10.13 BMPR1A BMPR2
6 Decreased viability GR00221-A-4 10.13 ACVR2B BMPR1A BMPR2 CSF1R
7 Decreased viability GR00301-A 10.13 BMPR2
8 Decreased viability GR00402-S-2 10.13 ACVR2B BMPR1A BMPR2 CSF1R
9 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.8 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
10 Decreased substrate adherent cell growth GR00193-A-1 9.56 ACVR2A BMPR1B BMPR2
11 Decreased substrate adherent cell growth GR00193-A-4 9.56 BMPR1B
12 Increased cell viability after pRB stimulation GR00230-A-1 9.35 ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
13 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 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
2 cellular MP:0005384 10.31 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
3 mortality/aging MP:0010768 10.3 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
4 cardiovascular system MP:0005385 10.27 ACVR2A ACVR2B BMP4 BMPR1A BMPR2 FGF9
5 craniofacial MP:0005382 10.26 ACVR2A BMP4 BMPR1A BMPR1B CSF1R FGF9
6 embryo MP:0005380 10.25 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
7 homeostasis/metabolism MP:0005376 10.24 ACVR2A ACVR2B BMP4 BMPR1A BMPR2 CSF1R
8 limbs/digits/tail MP:0005371 10.18 BMP4 BMPR1A BMPR1B CSF1R FGF9 GDF5
9 endocrine/exocrine gland MP:0005379 10.14 ACVR2A BMP4 BMPR1A BMPR1B CSF1R FGF9
10 hearing/vestibular/ear MP:0005377 10.11 ACVR2A BMP4 BMPR1A CSF1R FGF9 GDF6
11 nervous system MP:0003631 10.06 ACVR2A BMP4 BMPR1A BMPR1B BMPR2 CSF1R
12 normal MP:0002873 10.02 BMP4 BMPR1A BMPR1B BMPR2 CSF1R FGF9
13 muscle MP:0005369 9.98 ACVR2B BMP4 BMPR1A BMPR2 FGF9 NOG
14 reproductive system MP:0005389 9.91 ACVR2A BMP4 BMPR1A BMPR1B CSF1R FGF9
15 respiratory system MP:0005388 9.85 ACVR2A ACVR2B BMP4 BMPR1A BMPR2 FGF9
16 renal/urinary system MP:0005367 9.8 ACVR2B BMP4 BMPR2 FGF9 NOG SOX9
17 skeleton MP:0005390 9.77 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
18 vision/eye MP:0005391 9.23 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
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. ( 19589401 )
2009
7
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. ( 9634519 )
1998
8
A case of multiple synostoses syndrome. ( 7401380 )
1980
9
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
13.7 ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
2
Show member pathways
13.54 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
3
Show member pathways
13.26 ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
4
Show member pathways
13.16 ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
5
Show member pathways
12.44 ACVR2A ACVR2B BMP4 BMPR1A BMPR2 NOG
6
Show member pathways
12.38 ACVR2B BMP4 BMPR1A BMPR1B BMPR2
7
Show member pathways
12.2 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
8 12.02 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
9 11.99 BMP4 BMPR1A BMPR1B BMPR2 GDF5 GDF6
10 11.98 BMP4 BMPR1A NOG SOX9 WNT2
11
Show member pathways
11.66 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 NOG
12 11.64 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
13 11.56 BMPR1A SOX6 SOX9
14 11.45 BMP4 CSF1R GDF5 NOG WNT2
15 11.4 BMP4 BMPR1A BMPR2
16 11.2 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
17 11.08 BMP4 BMPR1A BMPR1B BMPR2
18
Show member pathways
11.01 ACVR2A 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 integral component of plasma membrane GO:0005887 9.8 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
2 extracellular space GO:0005615 9.8 BMP4 BMPR2 FGF9 GDF5 GDF6 NOG
3 HFE-transferrin receptor complex GO:1990712 9.16 BMPR1A BMPR1B
4 receptor complex GO:0043235 9.1 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
5 activin receptor complex GO:0048179 8.96 ACVR2A ACVR2B

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

(show top 50) (show all 100)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.97 ACVR2B BMP4 BMPR1A FGF9 WNT2
2 pattern specification process GO:0007389 9.97 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 NOG
3 anterior/posterior pattern specification GO:0009952 9.95 ACVR2A ACVR2B BMPR1A BMPR2
4 positive regulation of epithelial cell proliferation GO:0050679 9.95 BMP4 BMPR1A FGF9 NOG SOX9
5 male gonad development GO:0008584 9.94 ACVR2A FGF9 SOX9
6 osteoblast differentiation GO:0001649 9.94 BMP4 FGF9 NOG
7 positive regulation of neuron differentiation GO:0045666 9.93 BMP4 GDF5 GDF6
8 cell fate commitment GO:0045165 9.93 BMP4 SOX6 SOX9 WNT2
9 positive regulation of osteoblast differentiation GO:0045669 9.93 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
10 post-embryonic development GO:0009791 9.92 ACVR2B BMP4 SOX6
11 outflow tract morphogenesis GO:0003151 9.92 BMP4 BMPR1A BMPR2 NOG
12 positive regulation of endothelial cell proliferation GO:0001938 9.91 BMP4 BMPR2 WNT2
13 retina development in camera-type eye GO:0060041 9.91 BMPR1B BMPR2 SOX9
14 embryonic skeletal system development GO:0048706 9.91 ACVR2A BMP4 FGF9 NOG
15 negative regulation of epithelial cell proliferation GO:0050680 9.9 BMP4 GDF5 SOX9
16 cellular response to transforming growth factor beta stimulus GO:0071560 9.9 SOX6 SOX9 WNT2
17 cell development GO:0048468 9.9 BMP4 GDF5 GDF6
18 regulation of MAPK cascade GO:0043408 9.9 BMP4 GDF5 GDF6
19 SMAD protein signal transduction GO:0060395 9.9 BMP4 GDF5 GDF6
20 embryonic digit morphogenesis GO:0042733 9.89 BMP4 BMPR1A NOG
21 odontogenesis of dentin-containing tooth GO:0042475 9.88 ACVR2B BMP4 BMPR1A
22 embryonic limb morphogenesis GO:0030326 9.88 BMP4 FGF9 GDF5
23 mesoderm formation GO:0001707 9.88 BMP4 BMPR1A BMPR2 NOG
24 positive regulation of chondrocyte differentiation GO:0032332 9.88 BMPR1B GDF5 GDF6 SOX6 SOX9
25 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.88 ACVR2A BMP4 BMPR1A BMPR2 GDF5 GDF6
26 dorsal/ventral pattern formation GO:0009953 9.86 BMPR1A BMPR1B NOG
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.86 BMPR1A FGF9 SOX9 WNT2
28 positive regulation of cardiac muscle cell proliferation GO:0060045 9.85 BMPR1A FGF9 WNT2
29 positive regulation of BMP signaling pathway GO:0030513 9.85 BMP4 BMPR2 GDF5
30 chondrocyte differentiation GO:0002062 9.85 BMP4 BMPR1A BMPR1B FGF9 GDF5 SOX9
31 endoderm development GO:0007492 9.84 BMP4 BMPR1A NOG
32 activin receptor signaling pathway GO:0032924 9.84 ACVR2A ACVR2B BMPR2 GDF6
33 pituitary gland development GO:0021983 9.83 BMP4 BMPR1A NOG
34 outflow tract septum morphogenesis GO:0003148 9.83 BMP4 BMPR1A BMPR2
35 positive regulation of cartilage development GO:0061036 9.83 BMP4 BMPR1B BMPR2 SOX6 SOX9
36 negative regulation of chondrocyte differentiation GO:0032331 9.82 BMP4 GDF5 SOX9
37 chondrocyte development GO:0002063 9.82 BMPR1B BMPR2 SOX9
38 endocardial cushion morphogenesis GO:0003203 9.81 BMPR1A NOG SOX9
39 pharyngeal arch artery morphogenesis GO:0061626 9.81 BMP4 BMPR1A BMPR2 NOG
40 positive regulation of bone mineralization GO:0030501 9.8 ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
41 cartilage development GO:0051216 9.8 BMP4 BMPR1A BMPR1B GDF5 NOG SOX6
42 cardiac muscle cell differentiation GO:0055007 9.78 BMP4 SOX6
43 negative regulation of myoblast differentiation GO:0045662 9.78 BMP4 SOX9
44 positive regulation of activin receptor signaling pathway GO:0032927 9.78 ACVR2A ACVR2B FGF9
45 anatomical structure formation involved in morphogenesis GO:0048646 9.77 BMP4 NOG
46 neural crest cell development GO:0014032 9.77 BMPR1A SOX9
47 lung morphogenesis GO:0060425 9.77 BMP4 NOG
48 cartilage condensation GO:0001502 9.77 BMPR1B SOX9
49 gastrulation with mouth forming second GO:0001702 9.77 ACVR2A ACVR2B
50 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.77 NOG SOX9

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.95 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
2 kinase activity GO:0016301 9.93 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CSF1R
3 protein serine/threonine kinase activity GO:0004674 9.91 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
4 cytokine activity GO:0005125 9.83 BMP4 GDF5 GDF6 WNT2
5 growth factor activity GO:0008083 9.8 BMP4 FGF9 GDF5 GDF6
6 transforming growth factor beta receptor binding GO:0005160 9.65 BMP4 GDF5 GDF6
7 SMAD binding GO:0046332 9.65 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
8 activin binding GO:0048185 9.57 ACVR2A ACVR2B
9 type I transforming growth factor beta receptor binding GO:0034713 9.56 ACVR2A ACVR2B
10 BMP binding GO:0036122 9.55 BMPR2 GDF5
11 growth factor binding GO:0019838 9.55 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
12 transforming growth factor beta receptor activity, type I GO:0005025 9.54 BMPR1A BMPR1B
13 BMP receptor activity GO:0098821 9.54 ACVR2A BMPR1A BMPR2
14 transforming growth factor beta receptor activity, type II GO:0005026 9.5 ACVR2A ACVR2B BMPR2
15 activin receptor activity, type II GO:0016362 9.43 ACVR2B BMPR2
16 transforming growth factor beta-activated receptor activity GO:0005024 9.35 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
17 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.02 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2
18 protein binding GO:0005515 10.42 ACVR2A ACVR2B BMP4 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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