SCT
MCID: SPN060
MIFTS: 60

Spondylocarpotarsal Synostosis Syndrome (SCT)

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

Aliases & Classifications for Spondylocarpotarsal Synostosis Syndrome

MalaCards integrated aliases for Spondylocarpotarsal Synostosis Syndrome:

Name: Spondylocarpotarsal Synostosis Syndrome 57 12 53 25 75 37 29 13 6 15 40 73
Vertebral Fusion with Carpal Coalition 57 12 53 25 75
Spondylocarpotarsal Syndrome 57 12 53 25 75
Sct 57 12 53 25 75
Congenital Scoliosis with Unilateral Unsegmented Bar 12 25 75
Congenital Synspondylism 12 25 75
Spondylocarpotarsal Synostosis 12 59
Scoliosis, Congenital, with Unilateral Unsegmented Bar 57
Scoliosis, Congenital with Unilateral Unsegmented Bar 53
Synspondylism, Congenital 57
Synspondylism Congenital 53
Synspondylism 59
Sct Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
spondylocarpotarsal synostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spondylocarpotarsal synostosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylocarpotarsal Synostosis Syndrome

NIH Rare Diseases : 53 Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosisand lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. Other features can include cleft palate, deafness, loose joints, and poor formation of tooth enamel. SCT syndrome has been associated with retinal anomalies and cataracts. However, these eye problems are usually not severe enough to impair vision. This condition is caused by mutationsin the FLNB gene. It is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a gene mutation from each parent.

MalaCards based summary : Spondylocarpotarsal Synostosis Syndrome, also known as vertebral fusion with carpal coalition, is related to synostosis and scoliosis. An important gene associated with Spondylocarpotarsal Synostosis Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Cellular senescence (KEGG) and Hippo signaling pathway. Affiliated tissues include bone, t cells and eye, and related phenotypes are hypertelorism and short neck

Disease Ontology : 12 A bone development disease characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism that has material basis in mutation in the FLNB gene on chromosome 3p14.3.

Genetics Home Reference : 25 Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).

UniProtKB/Swiss-Prot : 75 Spondylocarpotarsal synostosis syndrome: Disorder characterized by short stature and vertebral, carpal and tarsal fusions.

Description from OMIM: 272460

Related Diseases for Spondylocarpotarsal Synostosis Syndrome

Diseases related to Spondylocarpotarsal Synostosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 253)
# Related Disease Score Top Affiliating Genes
1 synostosis 31.5 FLNB MYH3 NOG
2 scoliosis 30.2 COL2A1 FLNB MYH3 RUNX2
3 pancreatic cancer 11.5
4 sacrococcygeal teratoma 11.4
5 cystic fibrosis 11.4
6 chediak-higashi syndrome 11.4
7 scott syndrome 11.4
8 multiple endocrine neoplasia, type i 11.1
9 exocrine pancreatic insufficiency 11.1
10 insulinoma 11.1
11 zollinger-ellison syndrome 11.1
12 pervasive developmental disorder 11.1
13 steatorrhea 11.1
14 duodenal ulcer 11.1
15 acute pancreatitis 11.1
16 pancreatitis 11.1
17 gastrinoma 11.1
18 autism 11.1
19 small intestine cancer 11.1
20 dumping syndrome 11.1
21 angiodysplasia 11.1
22 duodenogastric reflux 11.1
23 biliary dyskinesia 11.1
24 alcoholic pancreatitis 11.1
25 vipoma 11.1
26 peptic ulcer disease 11.1
27 gastrointestinal system disease 11.1
28 glucagonoma 11.1
29 recurrent acute pancreatitis 11.1
30 larsen syndrome 11.1
31 insulinomatosis and diabetes mellitus 11.0
32 metaphyseal chondrodysplasia, jansen type 11.0
33 duodenal atresia 11.0
34 pancreatic agenesis 1 11.0
35 maturity-onset diabetes of the young, type 7 11.0
36 cholangiocarcinoma 11.0
37 hyperproinsulinemia 11.0
38 diphyllobothriasis 11.0
39 tropical sprue 11.0
40 pancreatic steatorrhea 11.0
41 giardiasis 11.0
42 pancreas disease 11.0
43 duodenal disease 11.0
44 intestinal neuroendocrine benign tumor 11.0
45 small intestine neuroendocrine neoplasm 11.0
46 space motion sickness 11.0
47 pancreatic gastrinoma 11.0
48 pancreatic cholera 11.0
49 duodenal gastrinoma 11.0
50 myeloma, multiple 10.5

Graphical network of the top 20 diseases related to Spondylocarpotarsal Synostosis Syndrome:



Diseases related to Spondylocarpotarsal Synostosis Syndrome

Symptoms & Phenotypes for Spondylocarpotarsal Synostosis Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
cataract
rarefaction of retinal pigmentation
narrowing of retinal vessels

Skeletal Spine:
scoliosis
block vertebrae
lordosis
odontoid hypoplasia
fusion of vertebral bodies
more
Skeletal Feet:
pes planus
tarsal synostosis
club foot

Head And Neck Mouth:
cleft palate

Head And Neck Ears:
preauricular skin tag
sensorineural hearing loss
mixed hearing loss

Genitourinary Kidneys:
renal cysts

Respiratory Lung:
restrictive lung disease

Neurologic Central Nervous System:
mild developmental delay

Skeletal Pelvis:
bilateral proximal femoral epiphyseal dysplasia
sacral anomaly

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Nose:
short nose
anteverted nares
broad, square nasal tip

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
carpal synostosis (especially capitate-hamate and lunate-triquetrum)

Skeletal:
delayed bone age

Head And Neck Teeth:
enamel hypoplasia

Growth Height:
short stature, disproportionate (short trunk)

Head And Neck Face:
round, broad face

Skeletal Limbs:
decreased range of motion at elbows
bowed humerus


Clinical features from OMIM:

272460

Human phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 scoliosis 32 HP:0002650
4 hyperlordosis 32 HP:0003307
5 cataract 32 HP:0000518
6 delayed skeletal maturation 32 HP:0002750
7 pes planus 32 HP:0001763
8 short nose 32 HP:0003196
9 sensorineural hearing impairment 32 HP:0000407
10 abnormality of retinal pigmentation 32 very rare (1%) HP:0007703
11 cleft palate 32 HP:0000175
12 epiphyseal dysplasia 32 HP:0002656
13 disproportionate short-trunk short stature 32 HP:0003521
14 talipes equinovarus 32 HP:0001762
15 clinodactyly of the 5th finger 32 HP:0004209
16 brachydactyly 32 HP:0001156
17 broad nasal tip 32 HP:0000455
18 abnormality of pelvic girdle bone morphology 32 HP:0002644
19 preauricular skin tag 32 HP:0000384
20 block vertebrae 32 HP:0003305
21 tarsal synostosis 32 HP:0008368
22 capitate-hamate fusion 32 HP:0001241
23 hypoplasia of the odontoid process 32 HP:0003311
24 renal cyst 32 HP:0000107
25 restrictive ventilatory defect 32 HP:0002091
26 hypoplasia of dental enamel 32 HP:0006297
27 carpal synostosis 32 HP:0009702
28 mixed hearing impairment 32 HP:0000410
29 broad face 32 HP:0000283
30 c2-c3 subluxation 32 HP:0008456
31 bowed humerus 32 HP:0003865

MGI Mouse Phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 CCN2 CDK1 COL10A1 COL2A1 FLNB NOG
2 cardiovascular system MP:0005385 10.09 CCN2 COL2A1 FLNB NOG RUNX2 SLCO2A1
3 craniofacial MP:0005382 9.97 CCN2 COL10A1 COL2A1 FLNB NOG RUNX2
4 mortality/aging MP:0010768 9.97 CCN2 CDK1 COL10A1 COL2A1 FLNB IVD
5 limbs/digits/tail MP:0005371 9.92 CCN2 COL10A1 COL2A1 FLNB NOG RUNX2
6 liver/biliary system MP:0005370 9.8 CCN2 CDK1 COL2A1 RUNX2 SMAD2 SMAD3
7 skeleton MP:0005390 9.61 CCN2 COL10A1 COL2A1 FLNB NOG RUNX2
8 vision/eye MP:0005391 9.23 CCN2 CDK1 COL2A1 IVD NOG RUNX2

Drugs & Therapeutics for Spondylocarpotarsal Synostosis Syndrome

Search Clinical Trials , NIH Clinical Center for Spondylocarpotarsal Synostosis Syndrome

Genetic Tests for Spondylocarpotarsal Synostosis Syndrome

Genetic tests related to Spondylocarpotarsal Synostosis Syndrome:

# Genetic test Affiliating Genes
1 Spondylocarpotarsal Synostosis Syndrome 29 FLNB

Anatomical Context for Spondylocarpotarsal Synostosis Syndrome

MalaCards organs/tissues related to Spondylocarpotarsal Synostosis Syndrome:

41
Bone, T Cells, Eye, Myeloid, B Cells, Lung, Liver

Publications for Spondylocarpotarsal Synostosis Syndrome

Articles related to Spondylocarpotarsal Synostosis Syndrome:

(show top 50) (show all 808)
# Title Authors Year
1
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. ( 29805041 )
2018
2
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. ( 29566257 )
2018
3
Efficacy of lamivudine prophylaxis in preventing hepatitis B virus reactivation in patients with resolved infection undergoing allogeneic SCT and receiving rituximab. ( 30232604 )
2018
4
Low incidence of symptomatic osteonecrosis after allogeneic HSCT in children with high-risk or relapsed ALL - results of the ALL-SCT 2003 trial. ( 30028016 )
2018
5
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. ( 30228365 )
2018
6
Spondylocarpotarsal synostosis syndrome: "Bat wings" spinal fusions and "ladybug" carpal coalitions. ( 30245165 )
2018
7
Homeostatic proliferation leads to telomere attrition and increased PD-1 expression after autologous hematopoietic SCT for systemic sclerosis. ( 29670207 )
2018
8
Should all patients with Hodgkin lymphoma who relapse after autologous SCT be considered for allogeneic SCT? ( 29636327 )
2018
9
How to Approach a Hodgkin Lymphoma Patient With Relapse After Autologous SCT: Allogeneic SCT. ( 29233742 )
2018
10
Simple Preparation of Thiol-Ene Particles in Glycerol and Surface Functionalization by Thiol-Ene Chemistry (TEC) and Surface Chain Transfer Free Radical Polymerization (SCT-FRP). ( 29065219 )
2018
11
Better early outcome with enteral rather than parenteral nutrition in children undergoing MAC allo-SCT. ( 29097037 )
2018
12
Immunoparesis and polyclonal immunoglobulin recovery after auto-SCT for patients with multiple myeloma treated at a single institution. ( 29160734 )
2018
13
Outcome of relapse after allogeneic HSCT in children with ALL enrolled in the ALL-SCT 2003/2007 trial. ( 29193007 )
2018
14
Early detection and evolution of preleukemic clones in therapy-related myeloid neoplasms following autologous SCT. ( 29311096 )
2018
15
Haploidentical hematopoietic SCT using helical tomotherapy for total-body irradiation and targeted dose boost in patients with high-risk/refractory acute lymphoblastic leukemia. ( 29330392 )
2018
16
Corrigendum: Disease status is a more reliable predictive factor than histology in lymphoma patients after reduced-intensity conditioning regimen and allo-SCT. ( 29410535 )
2018
17
Development and psychometric properties of a Calcium Intake Questionnaire based on the social cognitive theory (CIQ-SCT) for Iranian women. ( 29423363 )
2018
18
The neurocognitive nature of children with ADHD comorbid sluggish cognitive tempo: Might SCT be a disorder of vigilance? ( 29602533 )
2018
19
Should all patients with HL who relapse after ASCT be considered for allogeneic SCT? A consult, yes; a transplant, not necessarily. ( 29636328 )
2018
20
Advancing the Multi-Informant Assessment of Sluggish Cognitive Tempo: Child Self-Report in Relation to Parent and Teacher Ratings of SCT and Impairment. ( 29700714 )
2018
21
Outcomes of modified-eam conditioned autologous non-cryopreserved hematopoietic sct for lymphoma. A retrospective single-centre study. ( 29895930 )
2018
22
A novel predictive approach for GVHD after allogeneic SCT based on clinical variables and cytokine gene polymorphisms. ( 30030270 )
2018
23
Influence of pre-transplant minimal residual disease on prognosis after Allo-SCT for patients with acute lymphoblastic leukemia: systematic review and meta-analysis. ( 30037340 )
2018
24
Abstracts from the SCT 39th Annual Meeting (2018). ( 30129779 )
2018
25
Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis. ( 29263747 )
2017
26
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. ( 28145000 )
2017
27
The efficacy of erythropoietin mouthwash in prevention of oral mucositis in patients undergoing autologous hematopoietic SCT: a double-blind, randomized, placebo-controlled trial. ( 26310513 )
2017
28
Lentiviral-Mediated Netrin-1 Overexpression Improves Motor and Sensory Functions in SCT Rats Associated with SYP and GAP-43 Expressions. ( 26873853 )
2017
29
Erratum to: Lentiviral-Mediated Netrin-1 Overexpression Improves Motor and Sensory Functions in SCT Rats Associated with SYP and GAP-43 Expressions. ( 26973233 )
2017
30
Long-term event-free and overall survival after risk-adapted melphalan and SCT for systemic light chain amyloidosis. ( 27560108 )
2017
31
SCT: Spinal Cord Toolbox, an open-source software for processing spinal cord MRI data. ( 27720818 )
2017
32
The clinical value of biomarkers in respiratory complications in hematopoietic SCT. ( 27797370 )
2017
33
Sorafenib and azacitidine as salvage therapy for relapse of FLT3-ITD mutated AML after allo-SCT. ( 27893163 )
2017
34
Clinical and biological markers of premature aging after autologous SCT in childhood cancer. ( 28067869 )
2017
35
ADHD and SCT Symptomatology in Relation to College Students' Use of Self-Regulated Learning Strategies. ( 28164728 )
2017
36
A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation. ( 28224354 )
2017
37
The area postrema (AP) and the parabrachial nucleus (PBN) are important sites for salmon calcitonin (sCT) to decrease evoked phasic dopamine release in the nucleus accumbens (NAc). ( 28342771 )
2017
38
Evaluation of a novel technique in airway clearance therapy - Specific Cough Technique (SCT) in cystic fibrosis: A pilot study of a series of N-of-1 randomised controlled trials. ( 28540046 )
2017
39
In search of the optimal platform for Post-Allogeneic SCT immunotherapy in relapsed multiple myeloma: a systematic review. ( 28692028 )
2017
40
Lupus Anticoagulant Testing: Activated Partial Thromboplastin Time (APTT) and Silica Clotting Time (SCT). ( 28804829 )
2017
41
Rituximab-based first-line treatment of cGVHD after allogeneic SCT: results of a phase 2 study. ( 28864814 )
2017
42
NKp46 expression on NK cells as a prognostic and predictive biomarker for response to allo-SCT in patients with AML. ( 29209559 )
2017
43
Th17 plasticity and transition toward a pathogenic cytokine signature are regulated by cyclosporine after allogeneic SCT. ( 29296949 )
2017
44
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. ( 27381093 )
2016
45
Calcitriol for Oral Mucositis Prevention in Patients With Fanconi Anemia Undergoing Hematopoietic SCT: A Double-Blind, Randomized, Placebo-Controlled Trial. ( 26164019 )
2016
46
A randomized study of melphalan 200 mg/m(2) vs 280 mg/m(2) as a preparative regimen for patients with multiple myeloma undergoing auto-SCT. ( 26367217 )
2016
47
New strategies of DLI in the management of relapse of hematological malignancies after allogeneic hematopoietic SCT. ( 26595077 )
2016
48
Validation of SCT Methylation as a Hallmark Biomarker for Lung Cancers. ( 26725182 )
2016
49
Left ventricular mass and ambulatory blood pressure are increased in long-term survivors of childhood cancer after autologous SCT. ( 26828907 )
2016
50
miR-434-3p and DNA hypomethylation co-regulate eIF5A1 to increase AChRs and to improve plasticity in SCT rat skeletal muscle. ( 26964899 )
2016

Variations for Spondylocarpotarsal Synostosis Syndrome

ClinVar genetic disease variations for Spondylocarpotarsal Synostosis Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNB NM_001457.3(FLNB): c.6408delC (p.Ser2137Leufs) deletion Pathogenic rs80356521 GRCh37 Chromosome 3, 58139142: 58139142
2 FLNB NM_001457.3(FLNB): c.6408delC (p.Ser2137Leufs) deletion Pathogenic rs80356521 GRCh38 Chromosome 3, 58153415: 58153415
3 FLNB NM_001457.3(FLNB): c.2452C> T (p.Arg818Ter) single nucleotide variant Pathogenic rs80356519 GRCh37 Chromosome 3, 58095865: 58095865
4 FLNB NM_001457.3(FLNB): c.2452C> T (p.Arg818Ter) single nucleotide variant Pathogenic rs80356519 GRCh38 Chromosome 3, 58110138: 58110138
5 FLNB NM_001457.3(FLNB): c.4819C> T (p.Arg1607Ter) single nucleotide variant Pathogenic rs80356520 GRCh37 Chromosome 3, 58121853: 58121853
6 FLNB NM_001457.3(FLNB): c.4819C> T (p.Arg1607Ter) single nucleotide variant Pathogenic rs80356520 GRCh38 Chromosome 3, 58136126: 58136126
7 FLNB NM_001457.3(FLNB): c.6010C> T (p.Arg2004Ter) single nucleotide variant Pathogenic rs121908897 GRCh37 Chromosome 3, 58134498: 58134498
8 FLNB NM_001457.3(FLNB): c.6010C> T (p.Arg2004Ter) single nucleotide variant Pathogenic rs121908897 GRCh38 Chromosome 3, 58148771: 58148771
9 FLNB NM_001457.3(FLNB): c.5548G> T (p.Gly1850Ter) single nucleotide variant Pathogenic rs121908898 GRCh37 Chromosome 3, 58131770: 58131770
10 FLNB NM_001457.3(FLNB): c.5548G> T (p.Gly1850Ter) single nucleotide variant Pathogenic rs121908898 GRCh38 Chromosome 3, 58146043: 58146043
11 FLNB NM_001457.3(FLNB): c.1945C> T (p.Arg649Ter) single nucleotide variant Pathogenic rs80356517 GRCh37 Chromosome 3, 58094188: 58094188
12 FLNB NM_001457.3(FLNB): c.1945C> T (p.Arg649Ter) single nucleotide variant Pathogenic rs80356517 GRCh38 Chromosome 3, 58108461: 58108461
13 FLNB NM_001457.3(FLNB): c.7029T> G (p.Tyr2343Ter) single nucleotide variant Pathogenic rs80356518 GRCh37 Chromosome 3, 58148888: 58148888
14 FLNB NM_001457.3(FLNB): c.7029T> G (p.Tyr2343Ter) single nucleotide variant Pathogenic rs80356518 GRCh38 Chromosome 3, 58163161: 58163161
15 FLNB NM_001457.3(FLNB): c.6616G> T (p.Gly2206Ter) single nucleotide variant Pathogenic rs886043158 GRCh37 Chromosome 3, 58139350: 58139350
16 FLNB NM_001457.3(FLNB): c.6616G> T (p.Gly2206Ter) single nucleotide variant Pathogenic rs886043158 GRCh38 Chromosome 3, 58153623: 58153623
17 FLNB NM_001457.3(FLNB): c.3446_3455delGTGAAGCTGG (p.Gly1149Alafs) deletion Likely pathogenic GRCh38 Chromosome 3, 58123412: 58123421
18 FLNB NM_001457.3(FLNB): c.3446_3455delGTGAAGCTGG (p.Gly1149Alafs) deletion Likely pathogenic GRCh37 Chromosome 3, 58109139: 58109148
19 FLNB NM_001457.3(FLNB): c.4768_4771delATTG (p.Ile1590Glufs) deletion Likely pathogenic GRCh38 Chromosome 3, 58136075: 58136078
20 FLNB NM_001457.3(FLNB): c.4768_4771delATTG (p.Ile1590Glufs) deletion Likely pathogenic GRCh37 Chromosome 3, 58121802: 58121805

Expression for Spondylocarpotarsal Synostosis Syndrome

Search GEO for disease gene expression data for Spondylocarpotarsal Synostosis Syndrome.

Pathways for Spondylocarpotarsal Synostosis Syndrome

GO Terms for Spondylocarpotarsal Synostosis Syndrome

Cellular components related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 troponin complex GO:0005861 9.16 TNNI2 TNNT3
2 SMAD protein complex GO:0071141 8.96 SMAD2 SMAD3
3 heteromeric SMAD protein complex GO:0071144 8.62 SMAD2 SMAD3
4 cytosol GO:0005829 10 ARPC1A CCN2 CDK1 FLNB MYH3 RUNX2

Biological processes related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.79 TNNI2 TNNT3 TPM2
2 osteoblast differentiation GO:0001649 9.78 NOG RUNX2 SMAD3
3 wound healing GO:0042060 9.77 NOG SMAD2 SMAD3
4 ossification GO:0001503 9.77 CCN2 COL2A1 RUNX2
5 endochondral ossification GO:0001958 9.66 COL2A1 RUNX2
6 adrenal gland development GO:0030325 9.66 SMAD2 SMAD3
7 embryonic pattern specification GO:0009880 9.65 SMAD2 SMAD3
8 positive regulation of chondrocyte differentiation GO:0032332 9.65 RUNX2 SMAD3
9 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.65 SMAD2 SMAD3
10 ureteric bud development GO:0001657 9.65 NOG SMAD2 SMAD3
11 tissue homeostasis GO:0001894 9.64 CCN2 COL2A1
12 cartilage condensation GO:0001502 9.64 CCN2 COL2A1
13 signal transduction involved in regulation of gene expression GO:0023019 9.63 SMAD2 SMAD3
14 osteoblast development GO:0002076 9.63 RUNX2 SMAD3
15 cellular response to BMP stimulus GO:0071773 9.63 COL2A1 NOG RUNX2
16 positive regulation of gene expression GO:0010628 9.63 CCN2 CDK1 NOG RUNX2 SMAD2 SMAD3
17 regulation of muscle contraction GO:0006937 9.62 TNNI2 TNNT3
18 activin receptor signaling pathway GO:0032924 9.62 SMAD2 SMAD3
19 embryonic cranial skeleton morphogenesis GO:0048701 9.61 RUNX2 SMAD2 SMAD3
20 embryonic skeletal joint morphogenesis GO:0060272 9.58 COL2A1 NOG
21 endoderm formation GO:0001706 9.58 NOG SMAD2
22 mesoderm formation GO:0001707 9.58 NOG SMAD2 SMAD3
23 nodal signaling pathway GO:0038092 9.57 SMAD2 SMAD3
24 primary miRNA processing GO:0031053 9.56 SMAD2 SMAD3
25 embryonic foregut morphogenesis GO:0048617 9.55 SMAD2 SMAD3
26 pericardium development GO:0060039 9.54 SMAD2 SMAD3
27 endoderm development GO:0007492 9.54 NOG SMAD2 SMAD3
28 regulation of ATPase activity GO:0043462 9.52 TNNT3 TPM2
29 SMAD protein complex assembly GO:0007183 9.51 SMAD2 SMAD3
30 regulation of binding GO:0051098 9.49 SMAD2 SMAD3
31 skeletal muscle contraction GO:0003009 9.43 MYH3 TNNI2 TNNT3
32 skeletal system development GO:0001501 9.35 COL10A1 COL2A1 NOG RUNX2 SMAD3
33 paraxial mesoderm morphogenesis GO:0048340 9.32 SMAD2 SMAD3
34 muscle filament sliding GO:0030049 8.92 MYH3 TNNI2 TNNT3 TPM2

Molecular functions related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.73 CDK1 RUNX2 SMAD2 SMAD3
2 bHLH transcription factor binding GO:0043425 9.4 RUNX2 SMAD3
3 R-SMAD binding GO:0070412 9.37 SMAD2 SMAD3
4 enhancer binding GO:0035326 9.32 SMAD2 SMAD3
5 co-SMAD binding GO:0070410 9.26 SMAD2 SMAD3
6 primary miRNA binding GO:0070878 9.16 SMAD2 SMAD3
7 actin binding GO:0003779 9.1 ARPC1A FLNB MYH3 TNNI2 TNNT3 TPM2
8 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 8.96 SMAD2 SMAD3

Sources for Spondylocarpotarsal Synostosis Syndrome

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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