MCID: SYN086
MIFTS: 40

Synostoses, Tarsal, Carpal, and Digital

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Synostoses, Tarsal, Carpal, and Digital

MalaCards integrated aliases for Synostoses, Tarsal, Carpal, and Digital:

Name: Synostoses, Tarsal, Carpal, and Digital 57 53
Calcaneonavicular Coalition 57 12 53 15
Multiple Synostosis Syndrome 12 37 73
Synostoses, Tarsal, Carpal and Digital 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
synostoses, tarsal, carpal, and digital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 186400
Disease Ontology 12 DOID:14762
SNOMED-CT 68 62628008
MedGen 42 C1876184
KEGG 37 H00484
UMLS 73 C0175700

Summaries for Synostoses, Tarsal, Carpal, and Digital

Disease Ontology : 12 A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.

MalaCards based summary : Synostoses, Tarsal, Carpal, and Digital, also known as calcaneonavicular coalition, is related to multiple synostoses syndrome and synostosis. An important gene associated with Synostoses, Tarsal, Carpal, and Digital is NOG (Noggin), and among its related pathways/superpathways are TGF-beta signaling pathway and MAPK signaling pathway. Affiliated tissues include bone, and related phenotypes are underdeveloped nasal alae and anonychia

Description from OMIM: 186400

Related Diseases for Synostoses, Tarsal, Carpal, and Digital

Graphical network of the top 20 diseases related to Synostoses, Tarsal, Carpal, and Digital:



Diseases related to Synostoses, Tarsal, Carpal, and Digital

Symptoms & Phenotypes for Synostoses, Tarsal, Carpal, and Digital

Symptoms via clinical synopsis from OMIM:

57
Limbs:
tarsal synostosis
carpal synostosis
short metacarpals
absent phalanges
digital synostosis
more
Nose:
hypoplastic alae nasae

Nails:
absent nails


Clinical features from OMIM:

186400

Human phenotypes related to Synostoses, Tarsal, Carpal, and Digital:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 underdeveloped nasal alae 32 HP:0000430
2 anonychia 32 HP:0001798
3 short metacarpal 32 HP:0010049
4 tarsal synostosis 32 HP:0008368
5 aplasia/hypoplasia of the middle phalanges of the hand 32 HP:0009843
6 carpal synostosis 32 HP:0009702
7 radial head subluxation 32 HP:0003048
8 metacarpophalangeal synostosis 32 HP:0005880

MGI Mouse Phenotypes related to Synostoses, Tarsal, Carpal, and Digital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 BMP10 FGF9 GDF2 NOG PPP3R1 SSR2
2 embryo MP:0005380 9.77 BMP10 FGF9 NOG PPP3R1 SSR2
3 growth/size/body region MP:0005378 9.73 BMP10 FGF9 GDF5 NOG PPP3R1 SSR2
4 endocrine/exocrine gland MP:0005379 9.72 BMP10 FGF9 NOG PPP3R1 SSR2
5 limbs/digits/tail MP:0005371 9.46 BMP10 FGF9 GDF5 NOG
6 renal/urinary system MP:0005367 9.26 BMP10 FGF9 NOG PPP3R1
7 skeleton MP:0005390 9.02 FGF9 GDF2 GDF5 NOG SSR2

Drugs & Therapeutics for Synostoses, Tarsal, Carpal, and Digital

Search Clinical Trials , NIH Clinical Center for Synostoses, Tarsal, Carpal, and Digital

Genetic Tests for Synostoses, Tarsal, Carpal, and Digital

Anatomical Context for Synostoses, Tarsal, Carpal, and Digital

MalaCards organs/tissues related to Synostoses, Tarsal, Carpal, and Digital:

41
Bone

Publications for Synostoses, Tarsal, Carpal, and Digital

Articles related to Synostoses, Tarsal, Carpal, and Digital:

(show all 28)
# Title Authors Year
1
Fat Graft and Bone Wax Interposition Provides Better Functional Outcomes and Lower Reossification Rates Than Extensor Digitorum Brevis After Calcaneonavicular Coalition Resection. ( 28777279 )
2017
2
Calcaneonavicular Coalition with Naviculocuneiform and Cuneiform-First Metatarsal Coalitions A Case Report. ( 27281323 )
2016
3
Calcaneonavicular Coalition Resection With Pes Planovalgus Reconstruction. ( 26964697 )
2016
4
Arthroscopic Resection of a Bilateral Calcaneonavicular Coalition in a Child. ( 26364235 )
2015
5
Tibialis Spastic Varus Foot With Calcaneonavicular Coalition: A Case Report and Review of the Literature. ( 25655516 )
2015
6
Resection interposition arthroplasty of calcaneonavicular coalition using a lateral supramalleolar adipofascial flap: case report. ( 22525454 )
2013
7
Arthroscopic resection of calcaneonavicular coalition/malunion via a modified sinus tarsi approach: an early case series. ( 23093122 )
2012
8
Arthroscopic treatment of calcaneonavicular coalition in children. ( 21700521 )
2011
9
Stress fracture of the anterior process of the calcaneus associated with a calcaneonavicular coalition: a case report. ( 21288439 )
2011
10
Endoscopic resection of a calcaneonavicular coalition. ( 20182864 )
2010
11
Calcaneonavicular coalition: treatment by excision and fat graft. ( 19568010 )
2009
12
Experimental model in cadavera of arthroscopic resection of calcaneonavicular coalition and its first in-vivo application: preliminary communication. ( 19623084 )
2009
13
Calcaneonavicular coalition resection with extensor digitorum brevis interposition in adults. ( 17697653 )
2007
14
Arthroscopic resection of the calcaneonavicular coalition or the "too long" anterior process of the calcaneus. ( 16904593 )
2006
15
Stress fracture in the presence of a calcaneonavicular coalition: a case report. ( 16701059 )
2006
16
Calcaneus secundarius presenting as calcaneonavicular coalition: a case report. ( 16399555 )
2006
17
Features of calcaneonavicular coalition on coronal computed tomography. ( 10963427 )
2000
18
Resectional arthroplasty: treatment for calcaneonavicular coalition. ( 9470111 )
1998
19
Success of calcaneonavicular coalition resection in the adult population. ( 8886787 )
1996
20
Case presentation of calcaneonavicular coalition in monozygotic twins. ( 8885606 )
1996
21
Fracture of the tarsal navicular associated with calcaneonavicular coalition: a case report. ( 8749353 )
1995
22
Calcaneonavicular coalition treated by resection and interposition of the extensor digitorum brevis muscle. ( 2104855 )
1990
23
Subtalar dislocation associated with calcaneonavicular coalition: a case report. ( 2163710 )
1990
24
[Calcaneonavicular coalition and its treatment]. ( 2631489 )
1989
25
Roentgen rounds #91. Calcaneonavicular coalition. ( 3141881 )
1987
26
The "anteater nose": a direct sign of calcaneonavicular coalition on the lateral radiograph. ( 3429658 )
1987
27
Surgical reconstruction for calcaneonavicular coalition. Evaluation of function and gait. ( 6806302 )
1982
28
Bilateral calcaneonavicular coalition occurring in twin boys. A case report. ( 5923185 )
1966

Variations for Synostoses, Tarsal, Carpal, and Digital

Expression for Synostoses, Tarsal, Carpal, and Digital

Search GEO for disease gene expression data for Synostoses, Tarsal, Carpal, and Digital.

Pathways for Synostoses, Tarsal, Carpal, and Digital

Pathways related to Synostoses, Tarsal, Carpal, and Digital according to KEGG:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350
2 MAPK signaling pathway hsa04010
3 Regulation of actin cytoskeleton hsa04810

Pathways related to Synostoses, Tarsal, Carpal, and Digital according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 BMP10 FGF9 GDF2 GDF5 PPP3R1
2
Show member pathways
12.84 BMP10 GDF2 GDF5 PPP3R1
3
Show member pathways
12.16 BMP10 GDF2 GDF5
4
Show member pathways
11.97 BMP10 GDF2 GDF5
5
Show member pathways
11.82 BMP10 GDF2 GDF5 PPP3R1
6
Show member pathways
11.64 BMP10 GDF2 GDF5
7
Show member pathways
11.51 BMP10 GDF2 GDF5
8 11.4 GDF5 NOG
9
Show member pathways
11.27 BMP10 GDF5
10 10.84 GDF5 NOG
11 10.82 BMP10 GDF2 GDF5

GO Terms for Synostoses, Tarsal, Carpal, and Digital

Cellular components related to Synostoses, Tarsal, Carpal, and Digital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 BMP10 FGF9 GDF2 GDF5 NOG
2 extracellular space GO:0005615 9.02 BMP10 FGF9 GDF2 GDF5 NOG

Biological processes related to Synostoses, Tarsal, Carpal, and Digital according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.78 BMP10 FGF9 GDF2 GDF5
2 positive regulation of gene expression GO:0010628 9.76 BMP10 FGF9 GDF2 NOG
3 regulation of apoptotic process GO:0042981 9.74 BMP10 GDF2 GDF5
4 positive regulation of epithelial cell proliferation GO:0050679 9.61 FGF9 NOG
5 osteoblast differentiation GO:0001649 9.61 FGF9 GDF2 NOG
6 embryonic limb morphogenesis GO:0030326 9.6 FGF9 GDF5
7 embryonic skeletal system development GO:0048706 9.59 FGF9 NOG
8 chondrocyte differentiation GO:0002062 9.58 FGF9 GDF5
9 positive regulation of cardiac muscle cell proliferation GO:0060045 9.58 BMP10 FGF9
10 cellular response to BMP stimulus GO:0071773 9.56 GDF2 NOG
11 positive regulation of BMP signaling pathway GO:0030513 9.55 GDF2 GDF5
12 negative regulation of endothelial cell migration GO:0010596 9.54 BMP10 GDF2
13 cartilage development GO:0051216 9.54 GDF2 GDF5 NOG
14 activin receptor signaling pathway GO:0032924 9.52 BMP10 GDF2
15 positive regulation of cartilage development GO:0061036 9.51 BMP10 GDF2
16 cell development GO:0048468 9.5 BMP10 GDF2 GDF5
17 pathway-restricted SMAD protein phosphorylation GO:0060389 9.49 BMP10 GDF2
18 regulation of MAPK cascade GO:0043408 9.43 BMP10 GDF2 GDF5
19 atrial cardiac muscle tissue morphogenesis GO:0055009 9.4 BMP10 NOG
20 SMAD protein signal transduction GO:0060395 9.33 BMP10 GDF2 GDF5
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.13 BMP10 GDF2 GDF5
22 BMP signaling pathway GO:0030509 8.92 BMP10 GDF2 GDF5 NOG

Molecular functions related to Synostoses, Tarsal, Carpal, and Digital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.33 BMP10 GDF2 GDF5
2 transforming growth factor beta receptor binding GO:0005160 9.13 BMP10 GDF2 GDF5
3 growth factor activity GO:0008083 8.92 BMP10 FGF9 GDF2 GDF5

Sources for Synostoses, Tarsal, Carpal, and Digital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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