Multiple Synostoses Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MLT072 MIFTS: 45	Multiple Synostoses Syndrome Categories: Ear diseases, Bone diseases, Fetal diseases, Rare diseases, Genetic diseases
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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:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Ear diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Other specified osteochondrodysplasias

Orphanet: ⁵⁹

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0050794

Orphanet ⁵⁹ ORPHA3237

UMLS via Orphanet ⁷⁴ C0175700 C0342282

ICD10 via Orphanet ³⁴ Q78.8

SNOMED-CT via HPO ⁶⁹ 15253005 44057004 43476002 more

UMLS ⁷³ C0342282

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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

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Related Diseases for Multiple Synostoses Syndrome

Diseases in the Multiple Synostoses Syndrome family:

Multiple Synostoses Syndrome 1	Multiple Synostoses Syndrome 2
Multiple Synostoses Syndrome 3	Multiple Synostoses Syndrome 4

Diseases related to Multiple Synostoses Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	multiple synostoses syndrome 2	12.4
2	multiple synostoses syndrome 3	12.4
3	multiple synostoses syndrome 1	12.4
4	multiple synostoses syndrome 4	12.3
5	acromesomelic dysplasia, hunter-thompson type	10.6	BMPR1B GDF5
6	brachydactyly, type c	10.5	BMPR1B GDF5
7	fibular hypoplasia and complex brachydactyly	10.4	BMPR1B GDF5 NOG
8	chondrodysplasia, grebe type	10.4	BMPR1B GDF5
9	brachydactyly, type a2	10.3	BMPR1A BMPR1B GDF5
10	brachydactyly, type a1	10.2	BMPR1B GDF5 IHH
11	fibrodysplasia ossificans progressiva	10.1	BMP4 BMPR1A NOG
12	acromesomelic dysplasia	10.0	BMPR1B GDF5
13	brachydactyly	9.9	BMPR1B GDF5 IHH NOG
14	tarsal-carpal coalition syndrome	9.8	NOG YIPF2
15	synovial chondromatosis	9.7	BMP4 FGF9 NOG SOX9
16	pulmonary hypertension	9.6	BMP4 BMPR1A BMPR1B BMPR2
17	proximal symphalangism	6.7	BMP4 BMPR1B CSF1R FGF9 GDF5 NOG

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

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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

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Drugs & Therapeutics for Multiple Synostoses Syndrome

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome

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Genetic Tests for Multiple Synostoses Syndrome

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Anatomical Context for Multiple Synostoses Syndrome

MalaCards organs/tissues related to Multiple Synostoses Syndrome:

⁴¹

Bone

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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 )	Terhal P.A....van Haaften G.	2018
2	A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. ( 28169396 )	Tang L....Wang Z.	2017
3	Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. ( 25543012 )	Degenkolbe E....Seemann P.	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 )	Wang J....Shen Y.	2015
5	Multiple synostoses syndrome inA three members of a family displaying a novel mutation inA NOGGIN gene. ( 23732071 )	Aydin H.U....Kayserili H.	2013
6	New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. ( 21976273 )	Schwaerzer G.K....Knaus P.	2012
7	Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. ( 19589401 )	Wu X.L....Wang Z.G.	2009
8	Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. ( 9634519 )	Krakow D....Cohn D.H.	1998
9	A case of multiple synostoses syndrome. ( 7401380 )	Tsuruta T....Yamazaki T.	1980
10	The multiple synostoses syndrome. A plea for simplicity. ( 709952 )	Nixon J.R.	1978

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Genes for Multiple Synostoses Syndrome

Genes related to Multiple Synostoses Syndrome (3 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NOG	Noggin	Protein Coding	405.26	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	GDF5	Growth Differentiation Factor 5	Protein Coding	404.9	Causative germline mutation (gain of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	FGF9	Fibroblast Growth Factor 9	Protein Coding	393.23	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	GDF6	Growth Differentiation Factor 6	Protein Coding	33.01	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
5	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	22.33	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	21.68	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	21.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	SOX6	SRY-Box 6	Protein Coding	15.18	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	ACVR2B	Activin A Receptor Type 2B	Protein Coding	15.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	IHH	Indian Hedgehog	Protein Coding	14.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	BMP4	Bone Morphogenetic Protein 4	Protein Coding	13.93	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	SOX9	SRY-Box 9	Protein Coding	13.86	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	CSF1R	Colony Stimulating Factor 1 Receptor	Protein Coding	13.73	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	ACVR2A	Activin A Receptor Type 2A	Protein Coding	12.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	YIPF2	Yip1 Domain Family Member 2	Protein Coding	5.7	DISEASES inferred ¹⁵
16	WNT2	Wnt Family Member 2	Protein Coding	4.78	DISEASES inferred ¹⁵
17	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	4.56	DISEASES inferred ¹⁵

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Variations for Multiple Synostoses Syndrome

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Expression for Multiple Synostoses Syndrome

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

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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	Signaling by GPCR ⁶⁶ Show member pathways GPCR downstream signaling ⁶⁶ Signal Transduction ⁶⁶	14.01	ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 FGF9
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.73	ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
3	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.55	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
4	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.3	ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
5	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.18	ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
6	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.44	ACVR2A ACVR2B BMP4 BMPR1A BMPR2 NOG
7	BMP Pathway ⁶⁴ Show member pathways Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ DREAM Repression and Dynorphin Expression ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.4	ACVR2B BMP4 BMPR1A BMPR1B BMPR2
8	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.2	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
9	Fluid shear stress and atherosclerosis ³⁷	12.02	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
10	Hippo signaling pathway ³⁷	11.99	BMP4 BMPR1A BMPR1B BMPR2 GDF5 GDF6
11	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.98	BMP4 BMPR1A NOG SOX9 WNT2
12	Signaling by BMP ⁶⁶ Show member pathways BMP receptor signaling ¹ Bone Morphogenic Protein (BMP) Signalling and Regulation ¹	11.66	ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 NOG
13	Signaling pathways regulating pluripotency of stem cells ³⁷	11.64	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
14	Endochondral Ossification ¹	11.61	BMPR1A IHH SOX6 SOX9
15	Differentiation Pathway ¹	11.45	BMP4 CSF1R GDF5 NOG WNT2
16	Heart Development ¹	11.41	BMP4 BMPR1A BMPR2
17	TGF-beta signaling pathway (KEGG) ³⁷	11.2	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
18	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	11.08	BMP4 BMPR1A BMPR1B BMPR2

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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

Sources for Multiple Synostoses Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia