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

MCID: MLT072 MIFTS: 40	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

Sources

Aliases & Classifications for Multiple Synostoses Syndrome

MalaCards integrated aliases for Multiple Synostoses Syndrome:

Name: Multiple Synostoses Syndrome ¹² ⁵⁸ ¹⁵

Symphalangism-Brachydactyly Syndrome ⁵⁸ ⁷¹

Deafness-Hermann Type Symphalangism Syndrome ⁵⁸

Multiple Synostosis Syndrome ⁷¹

Facio-Audio-Symphalangism ⁵⁸

Wl Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Other specified osteochondrodysplasias

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0050794

ICD10 via Orphanet ³³ Q78.8

UMLS via Orphanet ⁷² C0175700 C0342282

Orphanet ⁵⁸ ORPHA3237

SNOMED-CT via HPO ⁶⁸ 15253005 17790008 249773003 more

UMLS ⁷¹ C0175700 C0342282

Sources

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 brachydactyly, and has symptoms including waddling gait An important gene associated with Multiple Synostoses Syndrome is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. Affiliated tissues include bone and heart, and related phenotypes are joint stiffness and brachydactyly

Sources

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 50)

#	Related Disease	Score	Top Affiliating Genes
1	multiple synostoses syndrome 2	34.9	GDF5-AS1 GDF5
2	brachydactyly	30.4	NOG GDF5-AS1 GDF5 FGF9 BMPR1B BMPR1A
3	proximal symphalangism	29.6	YIPF2 PAEP NOG GDF6 GDF5 FGF9
4	multiple synostoses syndrome 3	12.8
5	multiple synostoses syndrome 4	12.8
6	multiple synostoses syndrome 1	12.8
7	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction	11.5
8	symphalangism, proximal, 1b	10.5	GDF5-AS1 GDF5
9	leber congenital amaurosis 17	10.4	GDF6 GDF5
10	wildervanck syndrome	10.4
11	synovial chondromatosis	10.4	NOG FGF9
12	chromosome 10q23 deletion syndrome	10.4	BMPR1B BMPR1A
13	sugarman brachydactyly	10.4	NOG GDF5 BMPR1B
14	acromesomelic dysplasia, hunter-thompson type	10.4	GDF5 BMPR1B
15	acromesomelic dysplasia	10.3	GDF5-AS1 GDF5 BMPR1B
16	microphthalmia, isolated 4	10.3	PAEP GDF6 GDF5
17	pulmonary arterial hypertension associated with congenital heart disease	10.3	BMPR2 BMPR1B BMPR1A
18	branchiootic syndrome 1	10.3
19	lacrimoauriculodentodigital syndrome	10.3	GDF5 FGF9 FGF16
20	chondrodysplasia, grebe type	10.3	GDF5 BMPR1B
21	juvenile polyposis syndrome	10.3	NOG BMPR1B BMPR1A
22	submucous uterine fibroid	10.3	PAEP BMPR2
23	brachydactyly, type b2	10.3	YIPF2 NOG GDF5
24	brachydactyly, type b1	10.3	NOG GDF5
25	fibrodysplasia ossificans progressiva	10.3	NOG BMPR1A ACVR2A
26	bilateral renal aplasia	10.3	FGF9 FGF20
27	brachydactyly, type a1, c	10.3	NOG GDF6 GDF5-AS1 GDF5
28	tarsal-carpal coalition syndrome	10.3	YIPF2 NOG
29	deafness, autosomal recessive 71	10.3	FGF20 FGF16
30	brachydactyly, type a1, b	10.2	NOG GDF5 BMPR1B BMPR1A
31	chromosome 2q35 duplication syndrome	10.2	NOG GDF5 BMPR1B BMPR1A
32	heritable pulmonary arterial hypertension	10.2	BMPR2 BMPR1B
33	bone disease	10.2	NOG GDF6 GDF5 FGF9
34	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
35	acromesomelic dysplasia, maroteaux type	10.1	GDF5 BMPR1B
36	male infertility with azoospermia or oligozoospermia due to single gene mutation	10.1	SYCE1 NANOS1
37	fibular hypoplasia and complex brachydactyly	10.1	PAEP NOG GDF5-AS1 GDF5 BMPR1B
38	synostoses, tarsal, carpal, and digital	10.0	YIPF2 NOG GDF5 FGF9 BMPR1B
39	humeroradial synostosis	10.0
40	synostosis	10.0
41	otosclerosis	10.0
42	skeletal dysplasias	10.0
43	pectus carinatum	10.0
44	osteochondroma	10.0	FGF9 BMPR1B
45	brachydactyly, type a1	10.0	NOG GDF6 GDF5-AS1 GDF5 BMPR1B BMPR1A
46	d-bifunctional protein deficiency	9.8	LARS2 HSD17B4 CLPP
47	brachydactyly, type a2	9.8	PAEP NOG GDF6 GDF5 BMPR2 BMPR1B
48	perrault syndrome	9.7	LARS2 HSD17B4 EIF2B2 CLPP
49	46 xx gonadal dysgenesis	9.6	SYCE1 LARS2 HSD17B4 CLPP
50	premature ovarian failure 1	9.2	SYCE1 PAEP LARS2 HSD17B4 EIF2B2 CLPP

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

Sources

Symptoms & Phenotypes for Multiple Synostoses Syndrome

Human phenotypes related to Multiple Synostoses Syndrome:

⁵⁸ ³¹ (show all 10)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	joint stiffness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001387
2	brachydactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001156
3	short palm ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004279
4	conductive hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000405
5	symphalangism affecting the phalanges of the hand ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009773
6	broad thumb ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011304
7	cone-shaped epiphysis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010579
8	bilateral single transverse palmar creases ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007598
9	abnormality of the nail ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001597
10	facial asymmetry ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000324

UMLS symptoms related to Multiple Synostoses Syndrome:

waddling gait

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased human cytomegalovirus (HCMV) strain AD169 replication	GR00248-A	8.92	ACVR2A BMPR1A BMPR1B BMPR2

MGI Mouse Phenotypes related to Multiple Synostoses Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	9.97	ACVR2A BMPR1A BMPR1B BMPR2 CLPP FGF16
2	craniofacial	MP:0005382	9.91	ACVR2A BMPR1A BMPR1B FGF16 FGF9 GDF6
3	reproductive system	MP:0005389	9.85	ACVR2A BMPR1A BMPR1B CLPP FGF16 FGF9
4	hearing/vestibular/ear	MP:0005377	9.8	BMPR1A FGF16 FGF20 FGF9 GDF6 HSD17B4
5	skeleton	MP:0005390	9.65	ACVR2A BMPR1A BMPR1B BMPR2 CLPP FGF9
6	vision/eye	MP:0005391	9.23	ACVR2A BMPR1A BMPR1B BMPR2 FGF9 GDF6

Sources

Drugs & Therapeutics for Multiple Synostoses Syndrome

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome

Sources

Genetic Tests for Multiple Synostoses Syndrome

Sources

Anatomical Context for Multiple Synostoses Syndrome

MalaCards organs/tissues related to Multiple Synostoses Syndrome:

⁴⁰

Bone, Heart

Sources

Publications for Multiple Synostoses Syndrome

Articles related to Multiple Synostoses Syndrome:

(show all 30)

#	Title	Authors	PMID	Year
1	Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. ⁶¹ ⁶	Rudnik-Schoneborn S...Zerres K	20503332	2010
2	Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. ⁶¹ ⁶	Wu XL...Wang ZG	19589401	2009
3	Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. ⁶¹ ⁶	Takahashi T...Takada G	11846737	2001
4	Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. ⁶¹ ⁶	Gong Y...Warman ML	10080184	1999
5	FGF9 mutation causes craniosynostosis along with multiple synostoses. ⁶	Rodriguez-Zabala M...Heath KE	28730625	2017
6	Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation. ⁶	Wan DC...Longaker MT	17609215	2007
7	GDF5 is a second locus for multiple-synostosis syndrome. ⁶	Dawson K...Krakow D	16532400	2006
8	Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. ⁶	Seemann P...Mundlos S	16127465	2005
9	The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. ⁶	van den Ende JJ...Baten E	15770128	2005
10	Symphalangism and its introduction into Hawaii: a pedigree. ⁶	Gaal SA...Larsen IJ	3667255	1987
11	Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family. ⁶	Higashi K...Inoue S	6638061	1983
12	Modified French Osteotomy for Humeroradial Synostosis in a Child with Multiple Synostoses Syndrome: A Case Report. ⁶¹	Sahdi H...Nur-Alyana BA	31467654	2019
13	A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. ⁶¹	Drage Berentsen R...Houge G	30733656	2019
14	Further delineation of the GDF6 related multiple synostoses syndrome. ⁶¹	Terhal PA...van Haaften G	29130651	2018
15	A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. ⁶¹	Tang L...Wang Z	28169396	2017
16	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. ⁶¹	Wang J...Shen Y	26643732	2016
17	Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. ⁶¹	Ishino T...Hirakawa K	26211601	2015
18	Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. ⁶¹	Degenkolbe E...Seemann P	25543012	2015
19	A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss. ⁶¹	Masuda S...Matsunaga T	24735539	2014
20	Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene. ⁶¹	Aydin HU...Kayserili H	23732071	2013
21	Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome. ⁶¹	van den Ende JJ...Van Hul W	22968293	2013
22	A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. ⁶¹	Degenkolbe E...Seemann P	24098149	2013
23	New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. ⁶¹	Schwaerzer GK...Knaus P	21976273	2012
24	A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). ⁶¹	Potti TA...Lesperance MM	21538686	2011
25	Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. ⁶¹	Emery SB...Lesperance MM	19471170	2009
26	Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. ⁶¹	Brown DJ...Lesperance MM	12089654	2002
27	Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. ⁶¹	Krakow D...Cohn DH	9634519	1998
28	A case of multiple synostoses syndrome. ⁶¹	Tsuruta T...Yamazaki T	7401380	1980
29	The multiple synostoses syndrome. A plea for simplicity. ⁶¹	Nixon JR	709952	1978
30	Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. ⁶¹	Herrmann J	4469994	1974

Sources

Genes for Multiple Synostoses Syndrome

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

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GDF5	Growth Differentiation Factor 5	Protein Coding	395.03	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	NOG	Noggin	Protein Coding	394.63	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	FGF9	Fibroblast Growth Factor 9	Protein Coding	383.44	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	GDF6	Growth Differentiation Factor 6	Protein Coding	32.91	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	12.61	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	12.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	11.8	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	ACVR2A	Activin A Receptor Type 2A	Protein Coding	11.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	GDF5-AS1	GDF5 Antisense RNA 1	RNA Gene	7.7	GeneCards inferred via : Variants (show sections)
10	EIF2B2	Eukaryotic Translation Initiation Factor 2B Subunit Beta	Protein Coding	5.93	DISEASES inferred ¹⁵
11	FGF16	Fibroblast Growth Factor 16	Protein Coding	5.57	DISEASES inferred ¹⁵
12	LINC00540	Long Intergenic Non-Protein Coding RNA 540	RNA Gene	5.57	DISEASES inferred ¹⁵
13	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	5.47	DISEASES inferred ¹⁵
14	NANOS1	Nanos C2HC-Type Zinc Finger 1	Protein Coding	5.41	DISEASES inferred ¹⁵
15	YIPF2	Yip1 Domain Family Member 2	Protein Coding	5.35	DISEASES inferred ¹⁵
16	SYCE1	Synaptonemal Complex Central Element Protein 1	Protein Coding	5.33	DISEASES inferred ¹⁵
17	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.3	DISEASES inferred ¹⁵
18	FGF20	Fibroblast Growth Factor 20	Protein Coding	5.28	DISEASES inferred ¹⁵
19	CLPP	Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit	Protein Coding	5.22	DISEASES inferred ¹⁵
20	HSD17B4	Hydroxysteroid 17-Beta Dehydrogenase 4	Protein Coding	5.17	DISEASES inferred ¹⁵
21	SOHLH1	Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1	Protein Coding	5.16	DISEASES inferred ¹⁵
22	TBX4	T-Box Transcription Factor 4	Protein Coding	5.13	DISEASES inferred ¹⁵
23	POTEB2	POTE Ankyrin Domain Family Member B2	Protein Coding	5.12	DISEASES inferred ¹⁵
24	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	5.1	DISEASES inferred ¹⁵

Sources

Variations for Multiple Synostoses Syndrome

Sources

Expression for Multiple Synostoses Syndrome

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

Sources

Pathways for Multiple Synostoses Syndrome

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	13.17	GDF6 GDF5 FGF20 FGF16 BMPR2 BMPR1B
2	PAK Pathway ⁶³ Show member pathways Antioxidant Action of Vitamin-C ⁶³ Epithelial Adherens Junctions ⁶³	13.07	GDF6 GDF5 FGF20 FGF16 BMPR2 BMPR1B
3	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.28	NOG BMPR2 BMPR1A ACVR2A
4	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.16	NOG BMPR2 BMPR1B BMPR1A ACVR2A
5	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶³ Interferon alpha/beta signaling ⁶⁵ Regulation of IFNA signaling ⁶⁵	12.03	GDF6 GDF5 FGF20 FGF16
6	Signaling pathways regulating pluripotency of stem cells ³⁶	11.85	BMPR2 BMPR1B BMPR1A ACVR2A
7	Fluid shear stress and atherosclerosis ³⁶	11.81	BMPR2 BMPR1B BMPR1A ACVR2A
8	Hippo signaling pathway ³⁶	11.74	GDF6 GDF5 BMPR2 BMPR1B BMPR1A
9	G-protein signaling_RhoA regulation pathway ²²	11.5	GDF6 GDF5 FGF20 FGF16
10	Signaling by activated point mutants of FGFR3 ⁶⁵ Show member pathways FGFR3 ligand binding and activation ⁶⁵ FGFR3 mutant receptor activation ⁶⁵ FGFR3b ligand binding and activation ⁶⁵ FGFR3c ligand binding and activation ⁶⁵ t(4;14) translocations of FGFR3 ⁶⁵	11.37	FGF9 FGF20 FGF16
11	Signaling by BMP ⁶⁵ Show member pathways BMP receptor signaling ¹ Bone Morphogenic Protein (BMP) Signalling and Regulation ¹	11.21	NOG BMPR2 BMPR1B BMPR1A ACVR2A
12	TGF-beta signaling pathway (KEGG) ³⁶	11.14	NOG GDF6 GDF5 BMPR2 BMPR1B BMPR1A
13	Cardiomyocyte Differentiation through BMP Receptors ⁶³	10.78	BMPR2 BMPR1B BMPR1A

Sources

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	receptor complex	GO:0043235	9.26	BMPR2 BMPR1B BMPR1A ACVR2A
2	HFE-transferrin receptor complex	GO:1990712	8.62	BMPR1B BMPR1A

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

(show all 35)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell signaling	GO:0007267	9.93	GDF5 FGF9 FGF20 FGF16
2	anterior/posterior pattern specification	GO:0009952	9.84	BMPR2 BMPR1A ACVR2A
3	osteoblast differentiation	GO:0001649	9.83	NOG HSD17B4 FGF9
4	transforming growth factor beta receptor signaling pathway	GO:0007179	9.82	GDF5 BMPR2 BMPR1A
5	fibroblast growth factor receptor signaling pathway	GO:0008543	9.81	FGF9 FGF20 FGF16
6	positive regulation of epithelial cell proliferation	GO:0050679	9.79	NOG FGF9 BMPR1A
7	cartilage development	GO:0051216	9.78	NOG GDF5 BMPR1B BMPR1A
8	outflow tract morphogenesis	GO:0003151	9.77	NOG BMPR2 BMPR1A
9	embryonic skeletal system development	GO:0048706	9.75	NOG FGF9 ACVR2A
10	dorsal/ventral pattern formation	GO:0009953	9.74	NOG BMPR1B BMPR1A
11	cellular response to growth factor stimulus	GO:0071363	9.73	BMPR2 BMPR1B BMPR1A ACVR2A
12	positive regulation of osteoblast differentiation	GO:0045669	9.71	BMPR2 BMPR1B BMPR1A ACVR2A
13	chondrocyte differentiation	GO:0002062	9.7	FGF9 BMPR1B BMPR1A
14	mesoderm formation	GO:0001707	9.69	NOG BMPR2 BMPR1A
15	chondrocyte development	GO:0002063	9.67	BMPR2 BMPR1B
16	positive regulation of chondrocyte differentiation	GO:0032332	9.67	GDF6 GDF5 BMPR1B
17	proteoglycan biosynthetic process	GO:0030166	9.66	BMPR2 BMPR1B
18	endocardial cushion morphogenesis	GO:0003203	9.65	NOG BMPR1A
19	positive regulation of cartilage development	GO:0061036	9.65	BMPR2 BMPR1B
20	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.65	GDF6 GDF5 BMPR2 BMPR1A ACVR2A
21	hindlimb morphogenesis	GO:0035137	9.64	GDF5 BMPR1A
22	activin receptor signaling pathway	GO:0032924	9.63	GDF6 BMPR2 ACVR2A
23	mitral valve morphogenesis	GO:0003183	9.62	BMPR2 BMPR1A
24	positive regulation of bone mineralization	GO:0030501	9.62	BMPR2 BMPR1B BMPR1A ACVR2A
25	regulation of cardiac muscle cell proliferation	GO:0060043	9.61	FGF20 BMPR1A
26	positive regulation of activin receptor signaling pathway	GO:0032927	9.61	FGF9 ACVR2A
27	ventricular compact myocardium morphogenesis	GO:0003223	9.6	NOG BMPR1A
28	BMP signaling pathway involved in heart development	GO:0061312	9.58	NOG BMPR1A
29	negative regulation of chondrocyte proliferation	GO:1902731	9.56	BMPR2 BMPR1B
30	endochondral bone morphogenesis	GO:0060350	9.55	BMPR2 BMPR1B
31	cellular response to BMP stimulus	GO:0071773	9.55	NOG BMPR2 BMPR1B BMPR1A ACVR2A
32	tricuspid valve morphogenesis	GO:0003186	9.54	BMPR2 BMPR1A
33	pharyngeal arch artery morphogenesis	GO:0061626	9.54	NOG BMPR2 BMPR1A
34	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.35	GDF5 BMPR2 BMPR1B BMPR1A ACVR2A
35	BMP signaling pathway	GO:0030509	9.17	NOG GDF6 GDF5 BMPR2 BMPR1B BMPR1A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	growth factor activity	GO:0008083	9.55	GDF6 GDF5 FGF9 FGF20 FGF16
2	fibroblast growth factor receptor binding	GO:0005104	9.43	FGF9 FGF20 FGF16
3	BMP binding	GO:0036122	9.37	GDF5 BMPR2
4	transforming growth factor beta receptor activity, type I	GO:0005025	9.32	BMPR1B BMPR1A
5	BMP receptor activity	GO:0098821	9.13	BMPR2 BMPR1A ACVR2A
6	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	8.92	BMPR2 BMPR1B BMPR1A ACVR2A

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia