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MCID: MLT072
MIFTS: 44

Multiple Synostoses Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Multiple Synostoses Syndrome

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MalaCards integrated aliases for Multiple Synostoses Syndrome:

Name: Multiple Synostoses Syndrome 12 58 6 15
Symphalangism-Brachydactyly Syndrome 58 71
Hearing Loss-Hermann Type Symphalangism Syndrome 58
Deafness-Hermann Type Symphalangism Syndrome 58
Syndrome, Synostoses, Multiple 39
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
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
UMLS 71 C0175700 C0342282
Sources

Summaries for Multiple Synostoses Syndrome

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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 proximal symphalangism, and has symptoms including waddling gait An important gene associated with Multiple Synostoses Syndrome is NOG (Noggin), and among its related pathways/superpathways are PAK Pathway and Mesodermal Commitment Pathway. Related phenotypes are joint stiffness and conductive hearing impairment

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Related Diseases for Multiple Synostoses Syndrome

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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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 multiple synostoses syndrome 2 33.2 LOC109461476 GDF5-AS1 GDF5
2 proximal symphalangism 30.1 YIPF2 PAEP NOG GDF6 GDF5-AS1 GDF5
3 brachydactyly 30.1 NOG LOC109461476 GDF5-AS1 GDF5 FGF9 BMPR1B
4 multiple synostoses syndrome 4 11.7
5 multiple synostoses syndrome 3 11.7
6 multiple synostoses syndrome 1 11.7
7 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction 11.2
8 symphalangism, proximal, 1b 10.3 GDF5-AS1 GDF5
9 branchiootic syndrome 1 10.3
10 klippel-feil syndrome 1 10.3 GDF6 GDF5 BMPR1B
11 sugarman brachydactyly 10.3 NOG GDF5 BMPR1B
12 synovial chondromatosis 10.3 NOG FGF9 ACVR2A
13 leber congenital amaurosis 17 10.3 PAEP GDF6 GDF5
14 submucous uterine fibroid 10.3 PAEP BMPR2
15 microphthalmia, isolated 4 10.3 PAEP GDF6 GDF5
16 chromosome 10q23 deletion syndrome 10.3 BMPR1B BMPR1A
17 chondrodysplasia, grebe type 10.3 GDF5-AS1 GDF5 BMPR1B
18 brachydactyly, type b1 10.3 NOG GDF5
19 brachydactyly, type b2 10.3 YIPF2 NOG GDF5
20 tarsal-carpal coalition syndrome 10.3 YIPF2 NOG GDF5
21 brachydactyly, type c 10.2 GDF5-AS1 GDF5 BMPR1B
22 pulmonary arterial hypertension associated with congenital heart disease 10.2 BMPR2 BMPR1B BMPR1A
23 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.2 BMPR2 BMPR1A
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
25 lacrimoauriculodentodigital syndrome 10.2 GDF5 FGF9 FGF16
26 acromesomelic dysplasia, hunter-thompson type 10.2 LOC109461476 GDF5-AS1 GDF5 BMPR1B
27 acromesomelic dysplasia 10.2 LOC109461476 GDF5-AS1 GDF5 BMPR1B
28 brachydactyly, type a1, b 10.2 NOG GDF5 BMPR1B BMPR1A
29 wildervanck syndrome 10.2
30 osteochondroma 10.2 FGF9 BMPR1B
31 deafness, autosomal recessive 71 10.2 FGF9 FGF16
32 male infertility with azoospermia or oligozoospermia due to single gene mutation 10.2 SYCE1 NANOS1
33 perrault syndrome 1 10.2 LARS2 HSD17B4
34 fibrodysplasia ossificans progressiva 10.2 NOG BMPR1B BMPR1A ACVR2A
35 juvenile polyposis syndrome 10.2 NOG BMPR2 BMPR1B BMPR1A
36 orofacial cleft 10.1 NOG GDF6 FGF9 BMPR1A
37 chromosome 2q35 duplication syndrome 10.1 NOG GDF5 FGF16 BMPR1B
38 brachydactyly, type a1, c 10.1 PAEP NOG GDF6 GDF5-AS1 GDF5
39 heritable pulmonary arterial hypertension 10.1 BMPR2 BMPR1B
40 d-bifunctional protein deficiency 10.0 LARS2 HSD17B4 CLPP
41 synostoses, tarsal, carpal, and digital 10.0 YIPF2 NOG GDF6 GDF5 FGF9 BMPR1B
42 du pan syndrome 10.0 PAEP NOG GDF5-AS1 GDF5 BMPR1B ACVR2A
43 chronic pulmonary heart disease 10.0 BMPR2 BMPR1B
44 humeroradial synostosis 10.0
45 synostosis 10.0
46 otosclerosis 10.0
47 skeletal dysplasias 10.0
48 46 xx gonadal dysgenesis 9.9 SYCE1 LARS2 HSD17B4 CLPP
49 pectus carinatum 9.9
50 brachydactyly, type a1 9.9 YIPF2 NOG GDF6 GDF5-AS1 GDF5 BMPR1B

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



Diseases related to Multiple Synostoses Syndrome
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Symptoms & Phenotypes for Multiple Synostoses Syndrome

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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 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 symphalangism affecting the phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009773
5 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
6 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
7 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
8 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
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 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.8 ACVR2A BMPR1A BMPR1B

MGI Mouse Phenotypes related to Multiple Synostoses Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.92 ACVR2A BMPR1A BMPR1B FGF16 FGF9 GDF6
2 embryo MP:0005380 9.91 ACVR2A BMPR1A BMPR1B BMPR2 CLPP FGF16
3 hearing/vestibular/ear MP:0005377 9.7 BMPR1A CLPP FGF16 FGF9 GDF6 HSD17B4
4 reproductive system MP:0005389 9.65 ACVR2A BMPR1A BMPR1B CLPP FGF16 FGF9
5 skeleton MP:0005390 9.32 ACVR2A BMPR1A BMPR1B BMPR2 CLPP FGF9
Sources

Drugs & Therapeutics for Multiple Synostoses Syndrome

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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

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Publications for Multiple Synostoses Syndrome

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Articles related to Multiple Synostoses Syndrome:

(show all 32)
# Title Authors PMID Year
1
Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. 61 6
20503332 2010
2
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 61 6
19589401 2009
3
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 61 6
11846737 2001
4
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 6 61
10080184 1999
5
FGF9 mutation causes craniosynostosis along with multiple synostoses. 6
28730625 2017
6
Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation. 6
17609215 2007
7
GDF5 is a second locus for multiple-synostosis syndrome. 6
16532400 2006
8
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 6
16127465 2005
9
The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. 6
15770128 2005
10
Symphalangism and its introduction into Hawaii: a pedigree. 6
3667255 1987
11
Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family. 6
6638061 1983
12
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3. 61
33174625 2021
13
Multiple synostoses syndrome: Clinical report and retrospective analysis. 61
32259393 2020
14
Modified French Osteotomy for Humeroradial Synostosis in a Child with Multiple Synostoses Syndrome: A Case Report. 61
31467654 2019
15
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. 61
30733656 2019
16
Further delineation of the GDF6 related multiple synostoses syndrome. 61
29130651 2018
17
A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. 61
28169396 2017
18
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
26643732 2016
19
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. 61
26211601 2015
20
Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. 61
25543012 2015
21
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss. 61
24735539 2014
22
Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene. 61
23732071 2013
23
Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome. 61
22968293 2013
24
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. 61
24098149 2013
25
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. 61
21976273 2012
26
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
21538686 2011
27
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. 61
19471170 2009
28
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
12089654 2002
29
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. 61
9634519 1998
30
A case of multiple synostoses syndrome. 61
7401380 1980
31
The multiple synostoses syndrome. A plea for simplicity. 61
709952 1978
32
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. 61
4469994 1974
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Variations for Multiple Synostoses Syndrome

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ClinVar genetic disease variations for Multiple Synostoses Syndrome:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOG NM_005450.5(NOG):c.649T>G (p.Trp217Gly) SNV Pathogenic 6693 rs104894603 17:54672233-54672233 17:56594872-56594872
2 NOG NOG, 1-BP DEL Deletion Pathogenic 6701
3 NOG NM_005450.5(NOG):c.614G>A (p.Trp205Ter) SNV Pathogenic 6706 rs1567745119 17:54672198-54672198 17:56594837-56594837
4 NOG NM_005450.5(NOG):c.615G>C (p.Trp205Cys) SNV Pathogenic 6707 rs104894615 17:54672199-54672199 17:56594838-56594838
5 GDF5-AS1 NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu) SNV Pathogenic 8386 rs74315388 20:34021900-34021900 20:35434102-35434102
6 GDF5-AS1 NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn) SNV Pathogenic 8388 rs121909347 20:34021789-34021789 20:35433991-35433991
7 FGF9 NM_002010.3(FGF9):c.296G>A (p.Ser99Asn) SNV Pathogenic 8705 rs121918322 13:22255199-22255199 13:21681060-21681060
8 NOG NM_005450.5(NOG):c.696C>G (p.Cys232Trp) SNV Pathogenic 30290 rs387906844 17:54672280-54672280 17:56594919-56594919
9 FGF9 NM_002010.3(FGF9):c.184A>G (p.Arg62Gly) SNV Pathogenic 444874 rs1555223925 13:22246235-22246235 13:21672096-21672096
10 NOG NM_005450.6(NOG):c.64dup (p.Ala22fs) Duplication Pathogenic 827845 rs1597919829 17:54671645-54671646 17:56594284-56594285
11 NOG NM_005450.5(NOG):c.611G>A (p.Arg204Gln) SNV Likely pathogenic 375295 rs104894610 17:54672195-54672195 17:56594834-56594834
12 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain significance 897561 20:34025652-34025652 20:35437872-35437872
13 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain significance 595155 rs373973964 20:34025684-34025684 20:35437904-35437904
14 LOC109461476 NM_000557.5(GDF5):c.-236G>A SNV Uncertain significance 898778 20:34025944-34025944 20:35438164-35438164
15 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain significance 895610 20:34025203-34025203 20:35437423-35437423
16 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain significance 897084 20:34025527-34025527 20:35437747-35437747
17 GDF5-AS1 NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV Uncertain significance 896867 20:34021839-34021839 20:35434041-35434041
18 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain significance 897014 20:34025226-34025226 20:35437446-35437446
19 FGF9 NM_002010.3(FGF9):c.*586A>T SNV Uncertain significance 882905 13:22276160-22276160 13:21702021-21702021
20 FGF9 NM_002010.3(FGF9):c.*676G>A SNV Uncertain significance 882906 13:22276250-22276250 13:21702111-21702111
21 FGF9 NM_002010.3(FGF9):c.*702G>A SNV Uncertain significance 882907 13:22276276-22276276 13:21702137-21702137
22 FGF9 NM_002010.3(FGF9):c.*2356A>C SNV Uncertain significance 882955 13:22277930-22277930 13:21703791-21703791
23 FGF9 NM_002010.3(FGF9):c.*2469G>C SNV Uncertain significance 882956 13:22278043-22278043 13:21703904-21703904
24 FGF9 NM_002010.3(FGF9):c.*2594G>A SNV Uncertain significance 882957 13:22278168-22278168 13:21704029-21704029
25 FGF9 NM_002010.3(FGF9):c.*1030A>G SNV Uncertain significance 883701 13:22276604-22276604 13:21702465-21702465
26 FGF9 NM_002010.3(FGF9):c.*1186A>G SNV Uncertain significance 883702 13:22276760-22276760 13:21702621-21702621
27 FGF9 NM_002010.3(FGF9):c.*1225T>C SNV Uncertain significance 883703 13:22276799-22276799 13:21702660-21702660
28 FGF9 NM_002010.3(FGF9):c.*2739G>A SNV Uncertain significance 883754 13:22278313-22278313 13:21704174-21704174
29 FGF9 NM_002010.3(FGF9):c.*2782A>G SNV Uncertain significance 883755 13:22278356-22278356 13:21704217-21704217
30 FGF9 NM_002010.3(FGF9):c.-45C>T SNV Uncertain significance 311419 rs778769503 13:22246007-22246007 13:21671868-21671868
31 GDF5-AS1 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) SNV Uncertain significance 895535 20:34022146-34022146 20:35434348-35434348
32 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain significance 895672 20:34025483-34025483 20:35437703-35437703
33 LOC109461476 NM_000557.5(GDF5):c.-97T>C SNV Uncertain significance 895743 20:34025805-34025805 20:35438025-35438025
34 FGF9 NM_002010.3(FGF9):c.*37A>T SNV Uncertain significance 881303 13:22275611-22275611 13:21701472-21701472
35 FGF9 NM_002010.3(FGF9):c.*121A>C SNV Uncertain significance 881304 13:22275695-22275695 13:21701556-21701556
36 FGF9 NM_002010.3(FGF9):c.*274A>G SNV Uncertain significance 881305 13:22275848-22275848 13:21701709-21701709
37 FGF9 NM_002010.3(FGF9):c.*278G>A SNV Uncertain significance 881306 13:22275852-22275852 13:21701713-21701713
38 FGF9 NM_002010.3(FGF9):c.*2210del Deletion Uncertain significance 311465 rs577984328 13:22277775-22277775 13:21703636-21703636
39 FGF9 NM_002010.3(FGF9):c.-796C>T SNV Uncertain significance 311402 rs549054241 13:22245256-22245256 13:21671117-21671117
40 FGF9 NM_002010.3(FGF9):c.*380C>G SNV Uncertain significance 311442 rs886050051 13:22275954-22275954 13:21701815-21701815
41 FGF9 NM_002010.3(FGF9):c.*1461T>C SNV Uncertain significance 881361 13:22277035-22277035 13:21702896-21702896
42 FGF9 NM_002010.3(FGF9):c.*1679A>G SNV Uncertain significance 881362 13:22277253-22277253 13:21703114-21703114
43 FGF9 NC_000013.11:g.21671064G>T SNV Uncertain significance 881703 13:22245203-22245203 13:21671064-21671064
44 FGF9 NM_002010.3(FGF9):c.-829C>T SNV Uncertain significance 881704 13:22245223-22245223 13:21671084-21671084
45 FGF9 NM_002010.3(FGF9):c.-767G>C SNV Uncertain significance 881705 13:22245285-22245285 13:21671146-21671146
46 FGF9 NM_002010.3(FGF9):c.*2114C>T SNV Uncertain significance 881803 13:22277688-22277688 13:21703549-21703549
47 FGF9 NM_002010.3(FGF9):c.*2256C>T SNV Uncertain significance 881804 13:22277830-22277830 13:21703691-21703691
48 FGF9 NM_002010.3(FGF9):c.*2276T>C SNV Uncertain significance 881805 13:22277850-22277850 13:21703711-21703711
49 FGF9 NM_002010.3(FGF9):c.*2291A>C SNV Uncertain significance 881806 13:22277865-22277865 13:21703726-21703726
50 FGF9 NM_002010.3(FGF9):c.*519C>T SNV Uncertain significance 882902 13:22276093-22276093 13:21701954-21701954
Sources

Expression for Multiple Synostoses Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
PAK Pathway 63
Show member pathways
 13 GDF6 GDF5 FGF16 BMPR2 BMPR1B BMPR1A
2
Mesodermal Commitment Pathway 1
Show member pathways
 12.22 NOG BMPR2 BMPR1A ACVR2A
3
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.16 NOG BMPR2 BMPR1B BMPR1A ACVR2A
4
Signaling pathways regulating pluripotency of stem cells 36
11.86 BMPR2 BMPR1B BMPR1A ACVR2A
5
Fluid shear stress and atherosclerosis 36
11.81 BMPR2 BMPR1B BMPR1A ACVR2A
6
Hippo signaling pathway 36
11.75 GDF6 GDF5 BMPR2 BMPR1B BMPR1A
7
Signaling by BMP 65
Show member pathways
 11.21 NOG BMPR2 BMPR1B BMPR1A ACVR2A
8
TGF-beta signaling pathway (KEGG) 36
11.14 NOG GDF6 GDF5 BMPR2 BMPR1B BMPR1A
9
Cardiomyocyte Differentiation through BMP Receptors 63
10.78 BMPR2 BMPR1B BMPR1A
Sources

GO Terms for Multiple Synostoses Syndrome

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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 27)
# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 9.79 BMPR2 BMPR1A ACVR2A
2 positive regulation of epithelial cell proliferation GO:0050679 9.77 NOG FGF9 BMPR1A
3 cartilage development GO:0051216 9.76 NOG GDF5 BMPR1B BMPR1A
4 outflow tract morphogenesis GO:0003151 9.74 NOG BMPR2 BMPR1A
5 positive regulation of osteoblast differentiation GO:0045669 9.73 BMPR2 BMPR1B BMPR1A ACVR2A
6 cellular response to growth factor stimulus GO:0071363 9.71 BMPR2 BMPR1B BMPR1A ACVR2A
7 dorsal/ventral pattern formation GO:0009953 9.7 NOG BMPR1B BMPR1A
8 mesoderm formation GO:0001707 9.69 NOG BMPR2 BMPR1A
9 activin receptor signaling pathway GO:0032924 9.67 GDF6 BMPR2 ACVR2A
10 positive regulation of chondrocyte differentiation GO:0032332 9.65 GDF6 GDF5 BMPR1B
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.65 GDF6 GDF5 BMPR2 BMPR1A ACVR2A
12 proteoglycan biosynthetic process GO:0030166 9.63 BMPR2 BMPR1B
13 chondrocyte development GO:0002063 9.63 BMPR2 BMPR1B
14 endocardial cushion morphogenesis GO:0003203 9.62 NOG BMPR1A
15 positive regulation of bone mineralization GO:0030501 9.62 BMPR2 BMPR1B BMPR1A ACVR2A
16 positive regulation of cartilage development GO:0061036 9.61 BMPR2 BMPR1B
17 hindlimb morphogenesis GO:0035137 9.61 GDF5 BMPR1A
18 mitral valve morphogenesis GO:0003183 9.6 BMPR2 BMPR1A
19 ventricular compact myocardium morphogenesis GO:0003223 9.58 NOG BMPR1A
20 BMP signaling pathway involved in heart development GO:0061312 9.58 NOG BMPR1A
21 negative regulation of chondrocyte proliferation GO:1902731 9.56 BMPR2 BMPR1B
22 endochondral bone morphogenesis GO:0060350 9.55 BMPR2 BMPR1B
23 cellular response to BMP stimulus GO:0071773 9.55 NOG BMPR2 BMPR1B BMPR1A ACVR2A
24 tricuspid valve morphogenesis GO:0003186 9.54 BMPR2 BMPR1A
25 pharyngeal arch artery morphogenesis GO:0061626 9.54 NOG BMPR2 BMPR1A
26 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.35 GDF5 BMPR2 BMPR1B BMPR1A ACVR2A
27 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 9.46 GDF6 GDF5 FGF9 FGF16
2 fibroblast growth factor receptor binding GO:0005104 9.37 FGF9 FGF16
3 BMP binding GO:0036122 9.32 GDF5 BMPR2
4 transforming growth factor beta receptor activity, type I GO:0005025 9.26 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

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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