MCID: SYN086
MIFTS: 37

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 20
Calcaneonavicular Coalition 57 12 20 15
Multiple Synostosis Syndrome 12 36 70
Synostoses, Tarsal, Carpal and Digital 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
synostoses, tarsal, carpal, and digital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14762
OMIM® 57 186400
KEGG 36 H00484
SNOMED-CT 67 62628008
MedGen 41 C1876184
UMLS 70 C0175700

Summaries for Synostoses, Tarsal, Carpal, and Digital

KEGG : 36 Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.

MalaCards based summary : Synostoses, Tarsal, Carpal, and Digital, also known as calcaneonavicular coalition, is related to multiple synostoses syndrome and chromosome 2q35 duplication syndrome. 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 short metacarpal

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.

More information from OMIM: 186400

Related Diseases for Synostoses, Tarsal, Carpal, and Digital

Diseases related to Synostoses, Tarsal, Carpal, and Digital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 multiple synostoses syndrome 30.9 YIPF2 NOG GDF6 GDF5 FGF9 BMPR1B
2 chromosome 2q35 duplication syndrome 29.9 NOG GDF5 BMPR1B
3 ankylosis 29.9 NOG GDF5 ACVR1
4 brachydactyly 29.8 NOG GDF5 FGF9 BMPR1B
5 tarsal-carpal coalition syndrome 29.6 YIPF2 NOG GDF5 ACVR1
6 proximal symphalangism 28.8 YIPF2 PTAR1 NOG GDF6 GDF5 FGF9
7 tarsal coalition 10.4
8 synostosis 10.4
9 neuroma 10.3
10 multiple synostoses syndrome 1 10.3
11 branchiootic syndrome 1 10.3
12 synovial chondromatosis 10.2 NOG FGF9
13 brachydactyly, type b1 10.2 NOG GDF5
14 acromesomelic dysplasia, hunter-thompson type 10.2 GDF5 BMPR1B
15 acromesomelic dysplasia 10.2 GDF5 BMPR1B
16 chondrodysplasia, grebe type 10.2 GDF5 BMPR1B
17 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.2 GREM2 GDF5
18 osteochondroma 10.2 FGF9 BMPR1B
19 alacrima, achalasia, and mental retardation syndrome 10.1
20 complex regional pain syndrome 10.1
21 chronic pain 10.1
22 lacrimoauriculodentodigital syndrome 10.1 GDF5 FGF9
23 sugarman brachydactyly 10.1 NOG GDF5 BMPR1B
24 klippel-feil syndrome 10.1 GDF6 GDF5
25 du pan syndrome 10.1 NOG GDF5 BMPR1B
26 chronic pulmonary heart disease 10.1 BMPR1B ACVR1
27 leber congenital amaurosis 17 10.1 GDF6 GDF5
28 brachydactyly, type c 10.1 GDF5 BMPR1B
29 osseous heteroplasia, progressive 10.1 NOG ACVR1
30 persistent mullerian duct syndrome 10.0 BMPR1B ACVR1
31 exostosis 10.0 NDST1 GDF5
32 bone deterioration disease 10.0 GDF6 GDF5
33 fibrodysplasia ossificans progressiva 10.0 NOG BMPR1B ACVR1
34 sclerosteosis 9.9 NOG GREM2
35 humeroradial synostosis 9.9
36 pectus excavatum 9.9
37 symphalangism, proximal, 1a 9.9
38 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.9
39 multiple synostoses syndrome 2 9.9
40 multiple synostoses syndrome 3 9.9
41 symphalangism, proximal, 1b 9.9
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
43 hypogonadotropic hypogonadism 9.9
44 hypogonadism 9.9
45 odontochondrodysplasia 9.9 GDF5 FGF9 ACVR1
46 klippel-feil syndrome 1 9.9 GDF6 GDF5 BMPR1B
47 juvenile polyposis syndrome 9.9 NOG BMPR1B
48 brachydactyly, type b2 9.9 YIPF2 NOG GDF5 ACVR1
49 orofacial cleft 9.8 NOG GDF6 FGF9
50 brachydactyly, type a1, b 9.8 NOG GDF5 BMPR1B ACVR1

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 underdeveloped nasal alae 31 HP:0000430
2 short metacarpal 31 HP:0010049
3 tarsal synostosis 31 HP:0008368
4 anonychia 31 HP:0001798
5 carpal synostosis 31 HP:0009702
6 radial head subluxation 31 HP:0003048
7 aplasia/hypoplasia of the middle phalanges of the hand 31 HP:0009843
8 metacarpophalangeal synostosis 31 HP:0005880

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Limbs:
tarsal synostosis
carpal synostosis
short metacarpals
absent phalanges
digital synostosis
more
Nose:
hypoplastic alae nasae

Nails:
absent nails

Clinical features from OMIM®:

186400 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.03 ACVR1 BMPR1B FGF9 GDF6 GREM2 NDST1
2 growth/size/body region MP:0005378 10.02 ACVR1 BMPR1B FGF9 GDF5 GDF6 GREM2
3 embryo MP:0005380 9.95 ACVR1 BMPR1B FGF9 GDF5 NDST1 NOG
4 mortality/aging MP:0010768 9.81 ACVR1 BMPR1B FGF9 GDF5 GDF6 GREM2
5 limbs/digits/tail MP:0005371 9.73 ACVR1 BMPR1B FGF9 GDF5 GDF6 NOG
6 hearing/vestibular/ear MP:0005377 9.72 ACVR1 FGF9 GDF6 NDST1 NOG
7 skeleton MP:0005390 9.56 ACVR1 BMPR1B FGF9 GDF5 GDF6 GREM2
8 vision/eye MP:0005391 9.17 BMPR1B FGF9 GDF6 GREM2 NDST1 NOG

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:

40
Bone

Publications for Synostoses, Tarsal, Carpal, and Digital

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

(show top 50) (show all 70)
# Title Authors PMID Year
1
Bilateral calcaneonavicular coalition occurring in twin boys. A case report. 57 61
5923185 1966
2
FAMILIAL TARSAL AND CARPAL SYNOSTOSIS WITH RADIAL-HEAD SUBLUXATION (NIEVERGELT'S SYNDROME). 57
14133342 1964
3
Massive familial tarsal synostosis. 57
13475416 1957
4
Arthroscopic Calcaneonavicular Coalition and Too-long Anterior Process of the Calcaneus Resection in Children. 61
33461922 2021
5
Endoscopic resection of the calcaneonavicular coalition. 61
32792286 2020
6
Surgical treatment of tarsal coalitions in children and adolescents. 61
32175094 2020
7
Treatment of isolated talonavicular coalition: Case report and literature review. 61
30453800 2018
8
The "Double Medial Malleolus": A New Physical Finding in Talocalcaneal Coalition. 61
27261958 2018
9
Fat Graft and Bone Wax Interposition Provides Better Functional Outcomes and Lower Reossification Rates Than Extensor Digitorum Brevis After Calcaneonavicular Coalition Resection. 61
28777279 2017
10
Arthroscopic Resection of a Bilateral Calcaneonavicular Coalition in a Child. 61
26364235 2016
11
Calcaneonavicular Coalition with Naviculocuneiform and Cuneiform-First Metatarsal Coalitions A Case Report. 61
27281323 2016
12
Calcaneonavicular Coalition Resection With Pes Planovalgus Reconstruction. 61
26964697 2016
13
Tibialis Spastic Varus Foot With Calcaneonavicular Coalition: A Case Report and Review of the Literature. 61
25655516 2015
14
Calcaneus secundarius--a relevant differential diagnosis in ankle pain: a case report and review of the literature. 61
26033079 2015
15
Complete encasement of the peroneal tendons by the peroneal tubercle. 61
24992061 2014
16
[Double bilateral talocalcaneal and calcaneonavicular coalition in a 15 year-old patient: treatment and results]. 61
24716370 2013
17
Stress fracture of the anterior process of the calcaneus: a case report. 61
23966261 2013
18
Resection interposition arthroplasty of calcaneonavicular coalition using a lateral supramalleolar adipofascial flap: case report. 61
22525454 2013
19
[A young man with painful feet]. 61
23328006 2013
20
Arthroscopic resection of calcaneonavicular coalition/malunion via a modified sinus tarsi approach: an early case series. 61
23093122 2012
21
Talonavicular synostosis with lateral ankle instability--A case report and review of the literature. 61
22857973 2012
22
Talocalcaneal tarsal coalitions and the calcaneal lengthening osteotomy: the role of deformity correction. 61
22992849 2012
23
Arthroscopic treatment of calcaneonavicular coalition in children. 61
21700521 2011
24
Stress fracture of the anterior process of the calcaneus associated with a calcaneonavicular coalition: a case report. 61
21288439 2011
25
Endoscopic resection of a calcaneonavicular coalition. 61
20182864 2010
26
Tarsal coalitions: etiology, diagnosis, imaging, and stigmata. 61
19963173 2010
27
Experimental model in cadavera of arthroscopic resection of calcaneonavicular coalition and its first in-vivo application: preliminary communication. 61
19623084 2009
28
Plantar contact stress and gait analysis after resection of tarsal coalition. 61
19999879 2009
29
Calcaneonavicular coalition: treatment by excision and fat graft. 61
19568010 2009
30
[Resection of talocalcaneal coalition in children and adolescents without and with osteotomy of the calcaneus]. 61
19685227 2009
31
Case reports: symptomatic bilateral talonavicular coalition. 61
18791772 2009
32
[Calcaneonavicular coalition fracture. A rare differential diagnosis of post-traumatic ankle pain]. 61
18414823 2008
33
Analysis of calcaneonavicular coalitions using multi-planar three-dimensional computed tomography. 61
19308558 2008
34
Arthroscopy and endoscopy of the foot and ankle: indications for new techniques. 61
17681212 2007
35
Calcaneonavicular coalition resection with extensor digitorum brevis interposition in adults. 61
17697653 2007
36
Anterior process calcaneal fractures: a systematic evaluation of associated conditions. 61
17410357 2007
37
Arthroscopic resection of the calcaneonavicular coalition or the "too long" anterior process of the calcaneus. 61
16904593 2006
38
Stress fracture in the presence of a calcaneonavicular coalition: a case report. 61
16701059 2006
39
Cavovarus foot deformity with multiple tarsal coalitions: functional and three-dimensional preoperative assessment. 61
16513507 2006
40
Calcaneus secundarius presenting as calcaneonavicular coalition: a case report. 61
16399555 2006
41
Variations in calcaneonavicular morphology demonstrated with radiography. 61
14668427 2004
42
Radiographic diagnosis of tarsal coalition. 61
14736655 2004
43
Coalition of bilateral first cuneometatarsal joints: a case report. 61
14587996 2003
44
Tarsal coalition. 61
11176240 2001
45
Features of calcaneonavicular coalition on coronal computed tomography. 61
10963427 2000
46
Tarsal coalition: a blinded comparison of MRI and CT. 61
9716636 1998
47
Resectional arthroplasty: treatment for calcaneonavicular coalition. 61
9470111 1998
48
Case presentation of calcaneonavicular coalition in monozygotic twins. 61
8885606 1996
49
Success of calcaneonavicular coalition resection in the adult population. 61
8886787 1996
50
Fracture of the tarsal navicular associated with calcaneonavicular coalition: a case report. 61
8749353 1995

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:

36
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.94 NOG BMPR1B ACVR1
2 11.53 GDF6 GDF5 BMPR1B
3 11.07 NOG GREM2 GDF6 GDF5 BMPR1B ACVR1
4
Show member pathways
10.99 NOG GREM2 BMPR1B
5 10.94 NOG 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 Golgi medial cisterna GO:0005797 8.96 YIPF2 YIPF1
2 Golgi trans cisterna GO:0000138 8.62 YIPF2 YIPF1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.71 NDST1 GREM2 FGF9
2 cartilage development GO:0051216 9.61 NOG GDF5 BMPR1B
3 positive regulation of bone mineralization GO:0030501 9.58 BMPR1B ACVR1
4 glycosaminoglycan biosynthetic process GO:0006024 9.57 UGDH NDST1
5 ventricular septum morphogenesis GO:0060412 9.56 NOG ACVR1
6 mesoderm formation GO:0001707 9.55 NOG ACVR1
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.54 GDF6 GDF5 ACVR1
8 activin receptor signaling pathway GO:0032924 9.52 GDF6 ACVR1
9 endocardial cushion morphogenesis GO:0003203 9.51 NOG ACVR1
10 dorsal/ventral pattern formation GO:0009953 9.5 NOG BMPR1B ACVR1
11 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.49 UGDH NDST1
12 gastrulation with mouth forming second GO:0001702 9.48 UGDH ACVR1
13 pathway-restricted SMAD protein phosphorylation GO:0060389 9.46 GDF6 ACVR1
14 cellular response to BMP stimulus GO:0071773 9.43 NOG BMPR1B ACVR1
15 BMP signaling pathway involved in heart development GO:0061312 9.4 NOG ACVR1
16 positive regulation of chondrocyte differentiation GO:0032332 9.33 GDF6 GDF5 BMPR1B
17 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.13 GDF5 BMPR1B ACVR1
18 BMP signaling pathway GO:0030509 9.1 NOG GREM2 GDF6 GDF5 BMPR1B ACVR1

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 9.54 GREM2 GDF6 GDF5
2 growth factor activity GO:0008083 9.43 GDF6 GDF5 FGF9
3 SMAD binding GO:0046332 9.4 BMPR1B ACVR1
4 Rab GTPase binding GO:0017137 9.32 YIPF2 YIPF1
5 BMP binding GO:0036122 9.16 GREM2 GDF5
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 8.96 BMPR1B ACVR1
7 transforming growth factor beta receptor activity, type I GO:0005025 8.62 BMPR1B ACVR1

Sources for Synostoses, Tarsal, Carpal, and Digital

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