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

MCID: MLT072 MIFTS: 46	Multiple Synostoses Syndrome Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 C0175700 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 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

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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 19)

#	Related Disease	Score	Top Affiliating Genes
1	brachydactyly	30.5	BMPR1B GDF5 NOG
2	multiple synostoses syndrome 2	12.6
3	multiple synostoses syndrome 3	12.5
4	multiple synostoses syndrome 1	12.5
5	multiple synostoses syndrome 4	12.5
6	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction	11.6
7	acromesomelic dysplasia, hunter-thompson type	10.2	BMPR1B GDF5
8	acromesomelic dysplasia	10.1	BMPR1B GDF5
9	synostoses, tarsal, carpal, and digital	10.1	FGF9 GDF5 NOG
10	chondrodysplasia, grebe type	10.1	BMPR1B GDF5
11	fibular hypoplasia and complex brachydactyly	10.1	BMPR1B GDF5 NOG
12	brachydactyly, type c	10.1	BMPR1B GDF5 NOG
13	fibrodysplasia ossificans progressiva	10.0	BMP4 BMPR1A NOG
14	brachydactyly, type b2	10.0	GDF5 NOG YIPF2
15	tarsal-carpal coalition syndrome	9.9	NOG YIPF2
16	synovial chondromatosis	9.9	BMP4 FGF9 NOG SOX9
17	cleft palate with or without ankyloglossia, x-linked	9.8	BMP4 PAEP
18	brachydactyly, type a2	9.8	BMPR1A BMPR1B GDF5 NOG PAEP
19	proximal symphalangism	9.0	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	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

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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 )		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 )	Nixon J.R.	1978

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Genes for Multiple Synostoses Syndrome

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

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NOG	Noggin	Protein Coding	404.87	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	GDF5	Growth Differentiation Factor 5	Protein Coding	404.51	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	392.86	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	GDF6	Growth Differentiation Factor 6	Protein Coding	42.69	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	22.13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	21.53	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	21.41	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	SOX6	SRY-Box 6	Protein Coding	15.1	DISEASES inferred ¹⁵
9	ACVR2B	Activin A Receptor Type 2B	Protein Coding	14.97	DISEASES inferred ¹⁵
10	BMP4	Bone Morphogenetic Protein 4	Protein Coding	13.84	DISEASES inferred ¹⁵
11	SOX9	SRY-Box 9	Protein Coding	13.76	DISEASES inferred ¹⁵
12	CSF1R	Colony Stimulating Factor 1 Receptor	Protein Coding	13.66	DISEASES inferred ¹⁵
13	ACVR2A	Activin A Receptor Type 2A	Protein Coding	11.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	YIPF2	Yip1 Domain Family Member 2	Protein Coding	5.54	DISEASES inferred ¹⁵
15	WNT2	Wnt Family Member 2	Protein Coding	4.67	DISEASES inferred ¹⁵
16	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	4.47	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	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.7	ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
2	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	13.54	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
3	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.26	ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
4	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.16	ACVR2B BMP4 BMPR1A BMPR1B BMPR2 CSF1R
5	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.44	ACVR2A ACVR2B BMP4 BMPR1A BMPR2 NOG
6	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways BMP Pathway ⁶⁴ Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.38	ACVR2B BMP4 BMPR1A BMPR1B BMPR2
7	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.2	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
8	Fluid shear stress and atherosclerosis ³⁷	12.02	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
9	Hippo signaling pathway ³⁷	11.99	BMP4 BMPR1A BMPR1B BMPR2 GDF5 GDF6
10	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.98	BMP4 BMPR1A NOG SOX9 WNT2
11	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
12	Signaling pathways regulating pluripotency of stem cells ³⁷	11.64	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
13	Endochondral Ossification ¹	11.56	BMPR1A SOX6 SOX9
14	Differentiation Pathway ¹	11.45	BMP4 CSF1R GDF5 NOG WNT2
15	Heart Development ¹	11.4	BMP4 BMPR1A BMPR2
16	TGF-beta signaling pathway (KEGG) ³⁷	11.2	ACVR2A ACVR2B BMP4 BMPR1A BMPR1B BMPR2
17	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	11.08	BMP4 BMPR1A BMPR1B BMPR2
18	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	11.01	ACVR2A 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	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

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

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

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