MCID: PRX021
MIFTS: 50

Proximal Symphalangism

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

Aliases & Classifications for Proximal Symphalangism

MalaCards integrated aliases for Proximal Symphalangism:

Name: Proximal Symphalangism 12 20 58 36 29 15
Symphalangism, Proximal 54 39 70
Cushing's Symphalangism 12 20
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome 20
Hereditary Absence of Proximal Interphalangeal Joints 20
Strasburger-Hawkins-Eldridge Syndrome 20
Symphalangism, Proximal, 1a 20
Symphalangism, Proximal, 1b 20
Symphalangism, Cushing Type 58
Vessel's Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
proximal symphalangism
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050788
MESH via Orphanet 45 C536223
ICD10 via Orphanet 33 Q70.9
UMLS via Orphanet 71 C1861385
Orphanet 58 ORPHA3250
UMLS 70 C1861385

Summaries for Proximal Symphalangism

GARD : 20 Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in the NOG gene or GDF5 gene.

MalaCards based summary : Proximal Symphalangism, also known as symphalangism, proximal, is related to synostoses, tarsal, carpal, and digital and symphalangism, proximal, 1b. An important gene associated with Proximal Symphalangism is NOG (Noggin), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include bone, heart and eye, and related phenotypes are camptodactyly of finger and synostosis of carpal bones

Disease Ontology : 12 A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.

KEGG : 36 Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints.

Related Diseases for Proximal Symphalangism

Diseases in the Proximal Symphalangism family:

Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b
Proximal Symphalangism 1 Proximal Symphalangism 2

Diseases related to Proximal Symphalangism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 synostoses, tarsal, carpal, and digital 31.3 YIPF2 PTAR1 NOG GDF6 GDF5 FGF9
2 symphalangism, proximal, 1b 30.8 GDF5-AS1 GDF5
3 ankylosis 30.4 NOG GDF5 BMP4 BMP2 ACVR1
4 brachydactyly, type c 30.3 GDF5-AS1 GDF5 BMPR1B
5 tarsal-carpal coalition syndrome 30.1 YIPF2 NOG GDF5 CHRD ACVR1
6 brachydactyly 30.1 ROR2 NOG GDF5-AS1 GDF5 FGF9 BMPR1B
7 osteochondrodysplasia 30.0 GDF5 FGF9 BMP4 BMP2
8 brachydactyly, type b2 29.9 YIPF2 NOG GDF5 CHRD ACVR1
9 multiple synostoses syndrome 29.3 YIPF2 TBX4 PAEP NOG GDF6 GDF5-AS1
10 proximal symphalangism 1 11.4
11 proximal symphalangism 2 11.4
12 lenz-majewski hyperostotic dwarfism 11.2
13 symphalangism, proximal, 1a 11.1
14 multiple synostoses syndrome 1 11.1
15 mesomelia-synostoses syndrome 11.1
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
17 multiple synostoses syndrome 2 10.3 GDF5-AS1 GDF5
18 sugarman brachydactyly 10.3 NOG GDF5 BMPR1B
19 acromesomelic dysplasia, hunter-thompson type 10.3 GDF5-AS1 GDF5 BMPR1B
20 klippel-feil syndrome 1 10.3 GDF6 GDF5 BMPR1B
21 acromesomelic dysplasia 10.3 GDF5-AS1 GDF5 BMPR1B
22 brachydactyly, type b1 10.3 ROR2 NOG GDF5
23 chondrodysplasia, grebe type 10.3 GDF5-AS1 GDF5 BMPR1B
24 branchiootic syndrome 1 10.3
25 leber congenital amaurosis 17 10.2 PAEP GDF6 GDF5
26 spondylolysis 10.2 GDF5 BMP7 BMP2
27 chromosome 10q23 deletion syndrome 10.2 BMPR1B BMP4
28 spondylolisthesis 10.2 GDF5 BMP7 BMP2
29 osteochondroma 10.1 FGF9 BMPR1B BMP2
30 microphthalmia, isolated 4 10.1 PAEP GDF6 GDF5 ACVR1
31 microphthalmia, syndromic 6 10.1 GDF6 BMP4
32 premature menopause 10.1
33 orofacial cleft 11 10.1 BMPR1B BMP4
34 chronic pulmonary heart disease 10.1 BMPR1B BMP4 ACVR1
35 diffuse idiopathic skeletal hyperostosis 10.1 NOG BMP4 BMP2
36 du pan syndrome 10.1 PAEP NOG GDF5-AS1 GDF5 BMPR1B
37 bone deterioration disease 10.1 GDF6 GDF5 BMP7 BMP2
38 bone structure disease 10.1 GDF6 GDF5 BMP7 BMP2
39 pulmonary arterial hypertension associated with congenital heart disease 10.1 TBX4 BMPR1B
40 otosclerosis 10.0 NOG BMP4 BMP2
41 juvenile polyposis syndrome 10.0 NOG BMPR1B BMP4 BMP2
42 bone development disease 10.0 NOG GDF5 BMP4 BMP2
43 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.0 GDF2 ACVR1
44 synovial chondromatosis 10.0 NOG FGF9 BMP4 BMP2
45 lacrimoauriculodentodigital syndrome 10.0 TBX4 GDF5 FGF9
46 myositis ossificans 10.0 BMP4 ACVR1
47 ossification of the posterior longitudinal ligament of spine 10.0 GDF2 BMP4 BMP2
48 acroosteolysis 10.0
49 cryptorchidism, unilateral or bilateral 10.0
50 scoliosis 10.0

Graphical network of the top 20 diseases related to Proximal Symphalangism:



Diseases related to Proximal Symphalangism

Symptoms & Phenotypes for Proximal Symphalangism

Human phenotypes related to Proximal Symphalangism:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
2 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
3 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
4 proximal symphalangism 58 31 hallmark (90%) Very frequent (99-80%) HP:0100264
5 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
6 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
7 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
8 elbow ankylosis 58 31 frequent (33%) Frequent (79-30%) HP:0003070
9 metacarpophalangeal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0005880
10 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
11 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
12 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
13 abnormality of the metacarpal bones 58 Frequent (79-30%)
14 abnormality of the wrist 58 Occasional (29-5%)
15 finger clinodactyly 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Proximal Symphalangism:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ACVR1 ANKFN1 BMP2 BMP4 BMP7 BMPR1B
2 craniofacial MP:0005382 10.24 ACVR1 BMP2 BMP4 BMP7 BMPR1B CHRD
3 cardiovascular system MP:0005385 10.21 ACVR1 BMP2 BMP4 BMP7 CHRD FGF9
4 embryo MP:0005380 10.2 ACVR1 BMP2 BMP4 BMP7 BMPR1B CHRD
5 mortality/aging MP:0010768 10.13 ACVR1 BMP2 BMP4 BMP7 BMPR1B CHRD
6 limbs/digits/tail MP:0005371 10.11 ACVR1 BMP2 BMP4 BMP7 BMPR1B FGF9
7 hearing/vestibular/ear MP:0005377 10.1 ACVR1 ANKFN1 BMP2 BMP4 BMP7 CHRD
8 digestive/alimentary MP:0005381 10.08 ACVR1 BMP2 BMP4 BMP7 CHRD FGF9
9 normal MP:0002873 9.86 BMP2 BMP4 BMP7 BMPR1B CHRD FGF9
10 reproductive system MP:0005389 9.85 BMP2 BMP4 BMP7 BMPR1B CHRD FGF9
11 skeleton MP:0005390 9.8 ACVR1 BMP2 BMP4 BMP7 BMPR1B CHRD
12 vision/eye MP:0005391 9.28 BMP4 BMP7 BMPR1B CHRD FGF9 GDF2

Drugs & Therapeutics for Proximal Symphalangism

Search Clinical Trials , NIH Clinical Center for Proximal Symphalangism

Genetic Tests for Proximal Symphalangism

Genetic tests related to Proximal Symphalangism:

# Genetic test Affiliating Genes
1 Proximal Symphalangism (disease) 29

Anatomical Context for Proximal Symphalangism

MalaCards organs/tissues related to Proximal Symphalangism:

40
Bone, Heart, Eye, Kidney, Skin

Publications for Proximal Symphalangism

Articles related to Proximal Symphalangism:

(show top 50) (show all 72)
# Title Authors PMID Year
1
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 54 6 61
18440889 2008
2
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 6 61 54
17668388 2007
3
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 6 54 61
11846737 2001
4
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. 61 54 6
11545688 2001
5
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. 6 61 54
7557985 1995
6
Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. 6 61
18283415 2008
7
A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families. 61 6
16892395 2006
8
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 6 61
10080184 1999
9
GDF5 is a second locus for multiple-synostosis syndrome. 6
16532400 2006
10
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 6
16127465 2005
11
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. 6
11857750 2002
12
Bmp4 mediates apoptotic cell death in the developing chick eye. 6
11160400 2001
13
BMP4 is essential for lens induction in the mouse embryo. 6
9851982 1998
14
Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism). 6
17245852 1916
15
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. 61 54
19471170 2009
16
Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans. 54 61
18096605 2008
17
Cushing proximal symphalangism and the NOG and GDF5 genes. 54 61
17994231 2008
18
Teunissen-Cremers syndrome: a clinical, surgical, and genetic report. 54 61
15699718 2005
19
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. 54 61
15066478 2004
20
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 54
12089654 2002
21
A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? 54 61
11932993 2002
22
Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital? 61
33588412 2021
23
Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report. 61
32791904 2020
24
Multiple synostoses syndrome: Clinical report and retrospective analysis. 61
32259393 2020
25
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism. 61
32478388 2020
26
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling. 61
31694554 2019
27
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family. 61
31370824 2019
28
Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions. 61
31105738 2019
29
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism. 61
29371961 2017
30
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family. 61
28032038 2016
31
Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss. 61
26994744 2016
32
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder. 61
27508084 2016
33
A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family. 61
25888563 2015
34
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. 61
26211601 2015
35
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism. 61
25391606 2015
36
A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability. 61
25815513 2015
37
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss. 61
24735539 2014
38
Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. 61
24326127 2014
39
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. 61
22288654 2012
40
Foot anomalies and proximal symphalangism. 61
22294466 2012
41
Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome. 61
22855651 2012
42
Proximal symphalangism and premature ovarian failure. 61
22088931 2012
43
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
44
Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. 61
21358557 2011
45
A Japanese patient with a mild Lenz-Majewski syndrome. 61
17593321 2007
46
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 61
16957682 2006
47
[Clinical and genetical analysis of a family with hereditary congenital conductive hearing loss and proximal symphalangism and amblyopia]. 61
16848189 2006
48
Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome. 61
16151340 2005
49
The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. 61
15770128 2005
50
Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism. 61
14753748 2004

Variations for Proximal Symphalangism

ClinVar genetic disease variations for Proximal Symphalangism:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOG NM_005450.5(NOG):c.664T>G (p.Tyr222Asp) SNV Pathogenic 6692 rs121908948 GRCh37: 17:54672248-54672248
GRCh38: 17:56594887-56594887
2 NOG NM_005450.5(NOG):c.668C>T (p.Pro223Leu) SNV Pathogenic 6694 rs104894608 GRCh37: 17:54672252-54672252
GRCh38: 17:56594891-56594891
3 NOG NM_005450.5(NOG):c.565G>T (p.Gly189Cys) SNV Pathogenic 6695 rs104894609 GRCh37: 17:54672149-54672149
GRCh38: 17:56594788-56594788
4 NOG NM_005450.5(NOG):c.551G>A (p.Cys184Tyr) SNV Pathogenic 6699 rs104894612 GRCh37: 17:54672135-54672135
GRCh38: 17:56594774-56594774
5 NOG NM_005450.5(NOG):c.386T>A (p.Leu129Ter) SNV Pathogenic 6700 rs104894613 GRCh37: 17:54671970-54671970
GRCh38: 17:56594609-56594609
6 NOG NM_005450.5(NOG):c.665A>G (p.Tyr222Cys) SNV Pathogenic 6691 rs104894602 GRCh37: 17:54672249-54672249
GRCh38: 17:56594888-56594888
7 NOG NM_005450.5(NOG):c.103C>T (p.Pro35Ser) SNV Pathogenic 6703 rs28937580 GRCh37: 17:54671687-54671687
GRCh38: 17:56594326-56594326
8 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu) SNV Pathogenic 8386 rs74315388 GRCh37: 20:34021900-34021900
GRCh38: 20:35434102-35434102
9 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1471G>A (p.Glu491Lys) SNV Pathogenic 8389 rs74315389 GRCh37: 20:34021742-34021742
GRCh38: 20:35433944-35433944
10 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1118T>G (p.Leu373Arg) SNV Pathogenic 8392 rs121909349 GRCh37: 20:34022095-34022095
GRCh38: 20:35434297-35434297
11 NOG NM_005450.5(NOG):c.104C>G (p.Pro35Arg) SNV Pathogenic 6697 rs104894611 GRCh37: 17:54671688-54671688
GRCh38: 17:56594327-56594327
12 NOG NM_005450.5(NOG):c.611G>A (p.Arg204Gln) SNV Likely pathogenic 375295 rs104894610 GRCh37: 17:54672195-54672195
GRCh38: 17:56594834-56594834
13 NOG NM_005450.5(NOG):c.599T>C (p.Leu200Pro) SNV Likely pathogenic 599097 rs1567745111 GRCh37: 17:54672183-54672183
GRCh38: 17:56594822-56594822

Expression for Proximal Symphalangism

Search GEO for disease gene expression data for Proximal Symphalangism.

Pathways for Proximal Symphalangism

Pathways related to Proximal Symphalangism according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ROR2 GDF6 GDF5 GDF2 BMPR1B BMP7
2
Show member pathways
13.62 ROR2 GDF6 GDF5 GDF2 FGF9 BMP7
3
Show member pathways
13.6 ROR2 GDF6 GDF5 GDF2 BMPR1B BMP7
4
Show member pathways
13.47 ROR2 GDF6 GDF5 GDF2 FGF9 BMP7
5
Show member pathways
13.31 ROR2 GDF6 GDF5 GDF2 BMPR1B BMP7
6
Show member pathways
13.25 ROR2 GDF6 GDF5 GDF2 BMP7 BMP4
7
Show member pathways
13.23 GDF6 GDF5 GDF2 BMPR1B BMP7 BMP4
8
Show member pathways
13.19 WNT9A ROR2 GDF6 GDF5 GDF2 BMP7
9
Show member pathways
12.99 GDF6 GDF5 GDF2 BMP7 BMP4 BMP2
10
Show member pathways
12.97 GDF6 GDF5 GDF2 BMP7 BMP4 BMP2
11
Show member pathways
12.62 GDF6 GDF5 GDF2 BMP7 BMP4 BMP2
12
Show member pathways
12.59 BMPR1B BMP7 BMP4 BMP2 ACVR1
13
Show member pathways
12.45 NOG CHRD BMP7 BMP4 ACVR1
14
Show member pathways
12.24 ROR2 GDF6 GDF5 GDF2 BMP7 BMP4
15
Show member pathways
12.16 GDF6 GDF5 GDF2 BMP7 BMP4 BMP2
16
Show member pathways
12.14 WNT9A NOG BMPR1B BMP7 BMP4 BMP2
17 12.03 WNT9A BMPR1B BMP4 ACVR1
18 11.74 NOG GDF5 BMP7 BMP4 BMP2
19 11.7 WNT9A GDF6 GDF5 BMPR1B BMP7 BMP4
20
Show member pathways
11.66 GDF5 BMP7 BMP4 BMP2
21 11.6 GDF6 GDF5 GDF2 BMP7 BMP4 BMP2
22
Show member pathways
11.51 NOG CHRD BMPR1B BMP7 BMP2
23 11.49 ROR2 NOG BMP4
24 11.44 NOG GDF5 BMP4
25 11.25 NOG GDF6 GDF5 CHRD BMPR1B BMP7
26 11.12 BMP7 BMP4 BMP2
27 10.97 BMPR1B BMP7 BMP4 BMP2
28 10.9 ROR2 GDF6 GDF5 GDF2 BMP7 BMP4
29 10.68 BMP7 ACVR1

GO Terms for Proximal Symphalangism

Cellular components related to Proximal Symphalangism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 WNT9A PAEP NOG GDF6 GDF5 GDF2
2 extracellular space GO:0005615 9.36 WNT9A PAEP NOG GDF6 GDF5 GDF2
3 BMP receptor complex GO:0070724 9.16 BMP2 ACVR1

Biological processes related to Proximal Symphalangism according to GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.26 NOG GDF2 BMPR1B BMP7 BMP4 BMP2
2 cell differentiation GO:0030154 10.23 ROR2 NOG FGF9 BMPR1B BMP7 BMP4
3 multicellular organism development GO:0007275 10.2 WNT9A TBX4 ROR2 PAEP NOG GDF6
4 positive regulation of transcription, DNA-templated GO:0045893 10.17 ROR2 GDF6 GDF2 BMP7 BMP4 BMP2
5 positive regulation of gene expression GO:0010628 10.13 NOG GDF2 FGF9 BMP7 BMP4 BMP2
6 negative regulation of cell proliferation GO:0008285 10.12 WNT9A ROR2 BMP7 BMP4 BMP2
7 positive regulation of cell migration GO:0030335 10.03 ROR2 BMP4 BMP2 ACVR1
8 angiogenesis GO:0001525 10.03 TBX4 GDF2 BMP4 ACVR1
9 cell-cell signaling GO:0007267 10.03 WNT9A GDF5 FGF9 BMP2
10 ossification GO:0001503 9.95 GDF2 BMP7 BMP4 BMP2
11 osteoblast differentiation GO:0001649 9.94 NOG GDF2 BMP4 BMP2
12 positive regulation of neuron differentiation GO:0045666 9.93 GDF5 BMP7 BMP4 BMP2
13 positive regulation of MAPK cascade GO:0043410 9.92 ROR2 FGF9 BMP2
14 lung development GO:0030324 9.91 TBX4 FGF9 BMP4
15 positive regulation of osteoblast differentiation GO:0045669 9.91 BMPR1B BMP7 BMP4 BMP2 ACVR1
16 skeletal system development GO:0001501 9.91 ROR2 NOG CHRD BMPR1B BMP7 BMP4
17 positive regulation of endothelial cell proliferation GO:0001938 9.9 GDF2 BMP4 BMP2
18 positive regulation of epithelial cell proliferation GO:0050679 9.89 NOG FGF9 BMP4
19 odontogenesis of dentin-containing tooth GO:0042475 9.88 BMP7 BMP4 BMP2
20 embryonic digit morphogenesis GO:0042733 9.88 ROR2 NOG BMP4
21 cell fate commitment GO:0045165 9.88 WNT9A ROR2 BMP4 BMP2
22 cellular response to growth factor stimulus GO:0071363 9.88 BMPR1B BMP4 BMP2 ACVR1
23 negative regulation of cell cycle GO:0045786 9.87 BMP7 BMP4 BMP2
24 positive regulation of epithelial to mesenchymal transition GO:0010718 9.87 BMP7 BMP4 BMP2
25 embryonic limb morphogenesis GO:0030326 9.87 TBX4 GDF5 BMP7 BMP4
26 cartilage development GO:0051216 9.87 NOG GDF5 GDF2 BMPR1B BMP7 BMP4
27 chondrocyte differentiation GO:0002062 9.86 BMPR1B BMP4 BMP2
28 epithelial to mesenchymal transition GO:0001837 9.86 NOG BMP7 BMP2
29 dorsal/ventral pattern formation GO:0009953 9.85 NOG BMPR1B ACVR1
30 ureteric bud development GO:0001657 9.85 NOG BMP7 BMP4
31 positive regulation of BMP signaling pathway GO:0030513 9.85 GDF5 GDF2 BMP4
32 positive regulation of cell differentiation GO:0045597 9.84 BMPR1B BMP7 BMP4 BMP2
33 mesoderm formation GO:0001707 9.83 NOG BMP7 BMP4 ACVR1
34 positive regulation of bone mineralization GO:0030501 9.83 BMPR1B BMP7 BMP4 BMP2 ACVR1
35 negative regulation of chondrocyte differentiation GO:0032331 9.8 WNT9A GDF5 BMP4
36 positive regulation of cartilage development GO:0061036 9.8 GDF2 BMPR1B BMP4 BMP2
37 SMAD protein signal transduction GO:0060395 9.8 ROR2 GDF6 GDF5 GDF2 BMP7 BMP4
38 activin receptor signaling pathway GO:0032924 9.79 GDF6 GDF2 ACVR1
39 anatomical structure formation involved in morphogenesis GO:0048646 9.79 NOG BMP7 BMP4
40 positive regulation of chondrocyte differentiation GO:0032332 9.78 GDF6 GDF5 BMPR1B
41 pathway-restricted SMAD protein phosphorylation GO:0060389 9.78 GDF6 GDF2 BMP2 ACVR1
42 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.77 GDF5 BMPR1B ACVR1
43 endocardial cushion morphogenesis GO:0003203 9.77 NOG BMP2 ACVR1
44 camera-type eye morphogenesis GO:0048593 9.75 BMP7 BMP4
45 cartilage condensation GO:0001502 9.75 ROR2 BMPR1B
46 lung morphogenesis GO:0060425 9.75 NOG BMP4
47 cardiac muscle cell differentiation GO:0055007 9.75 BMP4 BMP2
48 positive regulation of endothelial cell differentiation GO:0045603 9.75 GDF2 BMP4
49 negative regulation of phosphorylation GO:0042326 9.74 BMP7 BMP4
50 pharyngeal system development GO:0060037 9.74 BMP7 ACVR1

Molecular functions related to Proximal Symphalangism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.5 BMPR1B BMP2 ACVR1
2 cytokine activity GO:0005125 9.5 WNT9A GDF6 GDF5 GDF2 BMP7 BMP4
3 co-receptor binding GO:0039706 9.4 BMP4 BMP2
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.37 BMPR1B ACVR1
5 BMP receptor binding GO:0070700 9.33 BMP7 BMP4 BMP2
6 transforming growth factor beta receptor activity, type I GO:0005025 9.26 BMPR1B ACVR1
7 growth factor activity GO:0008083 9.17 GDF6 GDF5 GDF2 FGF9 BMP7 BMP4

Sources for Proximal Symphalangism

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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