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 58 12 54 26 76 38 30 13 6 15 41 74
Vertebral Fusion with Carpal Coalition 58 12 54 26 76
Spondylocarpotarsal Syndrome 58 12 54 26 76
Sct 58 12 54 26 76
Congenital Scoliosis with Unilateral Unsegmented Bar 12 26 76
Congenital Synspondylism 12 26 76
Spondylocarpotarsal Synostosis 12 60
Scoliosis, Congenital, with Unilateral Unsegmented Bar 58
Scoliosis, Congenital with Unilateral Unsegmented Bar 54
Synspondylism, Congenital 58
Synspondylism Congenital 54
Synspondylism 60
Sct Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
spondylocarpotarsal synostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
spondylocarpotarsal synostosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylocarpotarsal Synostosis Syndrome

NIH Rare Diseases : 54 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 abnormality of retinal pigmentation and hypertelorism

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 : 26 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 : 76 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 268)
# Related Disease Score Top Affiliating Genes
1 synostosis 31.7 FLNB MYH3 NOG
2 scoliosis 30.2 COL2A1 FLNB MYH3 RUNX2
3 pancreatic cancer 11.6
4 sacrococcygeal teratoma 11.4
5 chediak-higashi syndrome 11.4
6 scott syndrome 11.4
7 multiple endocrine neoplasia, type i 11.2
8 exocrine pancreatic insufficiency 11.2
9 insulinoma 11.2
10 zollinger-ellison syndrome 11.2
11 pervasive developmental disorder 11.2
12 steatorrhea 11.2
13 duodenal ulcer 11.2
14 acute pancreatitis 11.2
15 pancreatitis 11.2
16 gastrinoma 11.2
17 autism 11.1
18 dumping syndrome 11.1
19 angiodysplasia 11.1
20 duodenogastric reflux 11.1
21 biliary dyskinesia 11.1
22 alcoholic pancreatitis 11.1
23 vipoma 11.1
24 peptic ulcer disease 11.1
25 gastrointestinal system disease 11.1
26 glucagonoma 11.1
27 recurrent acute pancreatitis 11.1
28 larsen syndrome 11.1
29 metaphyseal chondrodysplasia, jansen type 11.0
30 duodenal atresia 11.0
31 pancreatic agenesis 1 11.0
32 maturity-onset diabetes of the young, type 7 11.0
33 cholangiocarcinoma 11.0
34 hyperproinsulinemia 11.0
35 diphyllobothriasis 11.0
36 tropical sprue 11.0
37 pancreatic steatorrhea 11.0
38 giardiasis 11.0
39 pancreas disease 11.0
40 duodenum disease 11.0
41 space motion sickness 11.0
42 pancreatic gastrinoma 11.0
43 pancreatic cholera 11.0
44 duodenal gastrinoma 11.0
45 lymphoma 10.6
46 leukemia 10.6
47 myeloma, multiple 10.5
48 fissured tongue 10.3 TNNI2 TNNT3
49 myelodysplastic syndrome 10.3
50 acute leukemia 10.3

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



Diseases related to Spondylocarpotarsal Synostosis Syndrome

Symptoms & Phenotypes for Spondylocarpotarsal Synostosis Syndrome

Human phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 33 very rare (1%) HP:0007703
2 hypertelorism 33 HP:0000316
3 short neck 33 HP:0000470
4 scoliosis 33 HP:0002650
5 hyperlordosis 33 HP:0003307
6 cataract 33 HP:0000518
7 delayed skeletal maturation 33 HP:0002750
8 pes planus 33 HP:0001763
9 short nose 33 HP:0003196
10 sensorineural hearing impairment 33 HP:0000407
11 cleft palate 33 HP:0000175
12 epiphyseal dysplasia 33 HP:0002656
13 disproportionate short-trunk short stature 33 HP:0003521
14 talipes equinovarus 33 HP:0001762
15 clinodactyly of the 5th finger 33 HP:0004209
16 brachydactyly 33 HP:0001156
17 broad nasal tip 33 HP:0000455
18 abnormality of pelvic girdle bone morphology 33 HP:0002644
19 preauricular skin tag 33 HP:0000384
20 block vertebrae 33 HP:0003305
21 tarsal synostosis 33 HP:0008368
22 capitate-hamate fusion 33 HP:0001241
23 hypoplasia of the odontoid process 33 HP:0003311
24 renal cyst 33 HP:0000107
25 restrictive ventilatory defect 33 HP:0002091
26 hypoplasia of dental enamel 33 HP:0006297
27 carpal synostosis 33 HP:0009702
28 broad face 33 HP:0000283
29 mixed hearing impairment 33 HP:0000410
30 c2-c3 subluxation 33 HP:0008456
31 bowed humerus 33 HP:0003865

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 CCN2 CDK1 COL10A1 COL2A1 FLNB NOG
2 cardiovascular system MP:0005385 10.08 CCN2 COL2A1 FLNB NOG RUNX2 SMAD2
3 craniofacial MP:0005382 10.03 CCN2 COL10A1 COL2A1 FLNB NOG RUNX2
4 mortality/aging MP:0010768 10.03 CCN2 CDK1 COL10A1 COL2A1 FLNB IVD
5 limbs/digits/tail MP:0005371 9.97 CCN2 COL10A1 COL2A1 FLNB NOG RUNX2
6 digestive/alimentary MP:0005381 9.88 CCN2 COL2A1 NOG RUNX2 SMAD2 SMAD3
7 liver/biliary system MP:0005370 9.87 CCN2 CDK1 COL2A1 RUNX2 SMAD2 SMAD3
8 respiratory system MP:0005388 9.63 CCN2 COL2A1 FLNB NOG RUNX2 SMAD2
9 skeleton MP:0005390 9.61 CCN2 COL10A1 COL2A1 FLNB NOG RUNX2
10 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 30 FLNB

Anatomical Context for Spondylocarpotarsal Synostosis Syndrome

MalaCards organs/tissues related to Spondylocarpotarsal Synostosis Syndrome:

42
Bone, T Cells, Eye, Myeloid, Testes, B Cells, Skin

Publications for Spondylocarpotarsal Synostosis Syndrome

Articles related to Spondylocarpotarsal Synostosis Syndrome:

(show top 50) (show all 822)
# Title Authors Year
1
Efficacy of Sphincter Control Training (SCT) in the treatment of premature ejaculation, a new cognitive behavioral approach: A parallel-group randomized, controlled trial. ( 30807583 )
2019
2
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome. ( 30796325 )
2019
3
Advancing the Multi-Informant Assessment of Sluggish Cognitive Tempo: Child Self-Report in Relation to Parent and Teacher Ratings of SCT and Impairment. ( 29700714 )
2019
4
Assessing clinical reasoning skills using Script Concordance Test (SCT) and extended matching questions (EMQs): A pilot for urology trainees. ( 30697543 )
2019
5
Frequency, characteristics and outcome of PTLD after allo-SCT: a multicenter study from the Spanish group of blood and marrow transplantation (GETH). ( 30828868 )
2019
6
Validation of dose distribution computation on sCT images generated from MRI scans by Philips MRCAT. ( 30858769 )
2019
7
Genomic Analysis of Pseudomonas sp. Strain SCT, an Iodate-Reducing Bacterium Isolated from Marine Sediment, Reveals a Possible Use for Bioremediation. ( 30910818 )
2019
8
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. ( 29805041 )
2018
9
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. ( 29566257 )
2018
10
Efficacy of lamivudine prophylaxis in preventing hepatitis B virus reactivation in patients with resolved infection undergoing allogeneic SCT and receiving rituximab. ( 30232604 )
2018
11
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
12
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
13
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. ( 30228365 )
2018
14
Spondylocarpotarsal synostosis syndrome: "Bat wings" spinal fusions and "ladybug" carpal coalitions. ( 30245165 )
2018
15
Homeostatic proliferation leads to telomere attrition and increased PD-1 expression after autologous hematopoietic SCT for systemic sclerosis. ( 29670207 )
2018
16
Should all patients with Hodgkin lymphoma who relapse after autologous SCT be considered for allogeneic SCT? ( 29636327 )
2018
17
How to Approach a Hodgkin Lymphoma Patient With Relapse After Autologous SCT: Allogeneic SCT. ( 29233742 )
2018
18
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
19
Better early outcome with enteral rather than parenteral nutrition in children undergoing MAC allo-SCT. ( 29097037 )
2018
20
Immunoparesis and polyclonal immunoglobulin recovery after auto-SCT for patients with multiple myeloma treated at a single institution. ( 29160734 )
2018
21
Outcome of relapse after allogeneic HSCT in children with ALL enrolled in the ALL-SCT 2003/2007 trial. ( 29193007 )
2018
22
Early detection and evolution of preleukemic clones in therapy-related myeloid neoplasms following autologous SCT. ( 29311096 )
2018
23
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
24
Corrigendum: Disease status is a more reliable predictive factor than histology in lymphoma patients after reduced-intensity conditioning regimen and allo-SCT. ( 29410535 )
2018
25
Development and psychometric properties of a Calcium Intake Questionnaire based on the social cognitive theory (CIQ-SCT) for Iranian women. ( 29423363 )
2018
26
The neurocognitive nature of children with ADHD comorbid sluggish cognitive tempo: Might SCT be a disorder of vigilance? ( 29602533 )
2018
27
Should all patients with HL who relapse after ASCT be considered for allogeneic SCT? A consult, yes; a transplant, not necessarily. ( 29636328 )
2018
28
Outcomes of modified-eam conditioned autologous non-cryopreserved hematopoietic sct for lymphoma. A retrospective single-centre study. ( 29895930 )
2018
29
A novel predictive approach for GVHD after allogeneic SCT based on clinical variables and cytokine gene polymorphisms. ( 30030270 )
2018
30
Abstracts from the SCT 39th Annual Meeting (2018). ( 30129779 )
2018
31
Development and psychometrics of script concordance test (SCT) in midwifery. ( 30643750 )
2018
32
Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis. ( 29263747 )
2017
33
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. ( 28145000 )
2017
34
Long-term event-free and overall survival after risk-adapted melphalan and SCT for systemic light chain amyloidosis. ( 27560108 )
2017
35
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
36
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
37
Lupus Anticoagulant Testing: Activated Partial Thromboplastin Time (APTT) and Silica Clotting Time (SCT). ( 28804829 )
2017
38
Clinical and biological markers of premature aging after autologous SCT in childhood cancer. ( 28067869 )
2017
39
ADHD and SCT Symptomatology in Relation to College Students' Use of Self-Regulated Learning Strategies. ( 28164728 )
2017
40
A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation. ( 28224354 )
2017
41
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
42
In search of the optimal platform for Post-Allogeneic SCT immunotherapy in relapsed multiple myeloma: a systematic review. ( 28692028 )
2017
43
Rituximab-based first-line treatment of cGVHD after allogeneic SCT: results of a phase 2 study. ( 28864814 )
2017
44
NKp46 expression on NK cells as a prognostic and predictive biomarker for response to allo-SCT in patients with AML. ( 29209559 )
2017
45
Th17 plasticity and transition toward a pathogenic cytokine signature are regulated by cyclosporine after allogeneic SCT. ( 29296949 )
2017
46
Lentiviral-Mediated Netrin-1 Overexpression Improves Motor and Sensory Functions in SCT Rats Associated with SYP and GAP-43 Expressions. ( 26873853 )
2017
47
Erratum to: Lentiviral-Mediated Netrin-1 Overexpression Improves Motor and Sensory Functions in SCT Rats Associated with SYP and GAP-43 Expressions. ( 26973233 )
2017
48
SCT: Spinal Cord Toolbox, an open-source software for processing spinal cord MRI data. ( 27720818 )
2017
49
The clinical value of biomarkers in respiratory complications in hematopoietic SCT. ( 27797370 )
2017
50
Sorafenib and azacitidine as salvage therapy for relapse of FLT3-ITD mutated AML after allo-SCT. ( 27893163 )
2017

Variations for Spondylocarpotarsal Synostosis Syndrome

ClinVar genetic disease variations for Spondylocarpotarsal Synostosis Syndrome:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH3 NM_002470.3(MYH3): c.727_729delTCC (p.Ser243del) deletion Likely pathogenic rs1555527166 GRCh37 Chromosome 17, 10551880: 10551882
2 MYH3 NM_002470.3(MYH3): c.727_729delTCC (p.Ser243del) deletion Likely pathogenic rs1555527166 GRCh38 Chromosome 17, 10648563: 10648565
3 FLNB NM_001457.3(FLNB): c.6408delC (p.Ser2137Leufs) deletion Pathogenic rs80356521 GRCh37 Chromosome 3, 58139142: 58139142
4 FLNB NM_001457.3(FLNB): c.6408delC (p.Ser2137Leufs) deletion Pathogenic rs80356521 GRCh38 Chromosome 3, 58153415: 58153415
5 FLNB NM_001457.3(FLNB): c.2452C> T (p.Arg818Ter) single nucleotide variant Pathogenic rs80356519 GRCh37 Chromosome 3, 58095865: 58095865
6 FLNB NM_001457.3(FLNB): c.2452C> T (p.Arg818Ter) single nucleotide variant Pathogenic rs80356519 GRCh38 Chromosome 3, 58110138: 58110138
7 FLNB NM_001457.3(FLNB): c.4819C> T (p.Arg1607Ter) single nucleotide variant Pathogenic rs80356520 GRCh37 Chromosome 3, 58121853: 58121853
8 FLNB NM_001457.3(FLNB): c.4819C> T (p.Arg1607Ter) single nucleotide variant Pathogenic rs80356520 GRCh38 Chromosome 3, 58136126: 58136126
9 FLNB NM_001457.3(FLNB): c.6010C> T (p.Arg2004Ter) single nucleotide variant Pathogenic rs121908897 GRCh37 Chromosome 3, 58134498: 58134498
10 FLNB NM_001457.3(FLNB): c.6010C> T (p.Arg2004Ter) single nucleotide variant Pathogenic rs121908897 GRCh38 Chromosome 3, 58148771: 58148771
11 FLNB NM_001457.3(FLNB): c.5548G> T (p.Gly1850Ter) single nucleotide variant Pathogenic rs121908898 GRCh37 Chromosome 3, 58131770: 58131770
12 FLNB NM_001457.3(FLNB): c.5548G> T (p.Gly1850Ter) single nucleotide variant Pathogenic rs121908898 GRCh38 Chromosome 3, 58146043: 58146043
13 FLNB NM_001457.3(FLNB): c.1945C> T (p.Arg649Ter) single nucleotide variant Pathogenic rs80356517 GRCh37 Chromosome 3, 58094188: 58094188
14 FLNB NM_001457.3(FLNB): c.1945C> T (p.Arg649Ter) single nucleotide variant Pathogenic rs80356517 GRCh38 Chromosome 3, 58108461: 58108461
15 FLNB NM_001457.3(FLNB): c.7029T> G (p.Tyr2343Ter) single nucleotide variant Pathogenic rs80356518 GRCh37 Chromosome 3, 58148888: 58148888
16 FLNB NM_001457.3(FLNB): c.7029T> G (p.Tyr2343Ter) single nucleotide variant Pathogenic rs80356518 GRCh38 Chromosome 3, 58163161: 58163161
17 MYH3 NM_002470.3(MYH3): c.1986_1990delTTTAA (p.Asn662Lysfs) deletion Conflicting interpretations of pathogenicity rs771300756 GRCh38 Chromosome 17, 10641342: 10641346
18 MYH3 NM_002470.3(MYH3): c.1986_1990delTTTAA (p.Asn662Lysfs) deletion Conflicting interpretations of pathogenicity rs771300756 GRCh37 Chromosome 17, 10544659: 10544663
19 FLNB NM_001457.3(FLNB): c.3446_3455delGTGAAGCTGG (p.Gly1149Alafs) deletion Likely pathogenic rs1553701033 GRCh38 Chromosome 3, 58123412: 58123421
20 FLNB NM_001457.3(FLNB): c.3446_3455delGTGAAGCTGG (p.Gly1149Alafs) deletion Likely pathogenic rs1553701033 GRCh37 Chromosome 3, 58109139: 58109148
21 FLNB NM_001457.3(FLNB): c.4768_4771delATTG (p.Ile1590Glufs) deletion Likely pathogenic rs1553703909 GRCh38 Chromosome 3, 58136075: 58136078
22 FLNB NM_001457.3(FLNB): c.4768_4771delATTG (p.Ile1590Glufs) deletion Likely pathogenic rs1553703909 GRCh37 Chromosome 3, 58121802: 58121805
23 MYH3 NM_002470.3(MYH3): c.4647+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10633590: 10633590
24 MYH3 NM_002470.3(MYH3): c.4647+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10536907: 10536907
25 MYH3 NM_002470.3(MYH3): c.1581+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10642825: 10642825
26 MYH3 NM_002470.3(MYH3): c.1581+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10546142: 10546142
27 MYH3 NC_000017.11: g.10643215_10643387del173 deletion Pathogenic GRCh38 Chromosome 17, 10643215: 10643387
28 MYH3 NC_000017.11: g.10643215_10643387del173 deletion Pathogenic GRCh37 Chromosome 17, 10546532: 10546704
29 MYH3 NM_002470.3(MYH3): c.725C> T (p.Ser242Phe) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 17, 10648567: 10648567
30 MYH3 NM_002470.3(MYH3): c.725C> T (p.Ser242Phe) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 17, 10551884: 10551884
31 MYH3 NM_002470.3(MYH3): c.721A> G (p.Asn241Asp) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 17, 10648571: 10648571
32 MYH3 NM_002470.3(MYH3): c.721A> G (p.Asn241Asp) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 17, 10551888: 10551888
33 MYH3 NM_002470.3(MYH3): c.141T> G (p.Tyr47Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10654924: 10654924
34 MYH3 NM_002470.3(MYH3): c.141T> G (p.Tyr47Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10558241: 10558241
35 MYH3 NM_002470.3(MYH3): c.-9+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 10559406: 10559406
36 MYH3 NM_002470.3(MYH3): c.-9+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 10656089: 10656089
37 MYH3 NM_002470.3: c.2699delT deletion Likely pathogenic GRCh38 Chromosome 17, 10639787: 10639787
38 MYH3 NM_002470.3: c.2699delT deletion Likely pathogenic GRCh37 Chromosome 17, 10543103: 10543103
39 MYH3 NM_002470.4(MYH3): c.1934T> G (p.Phe645Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 10642265: 10642265
40 MYH3 NM_002470.4(MYH3): c.1934T> G (p.Phe645Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 10545582: 10545582

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

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.79 TNNI2 TNNT3 TPM2
2 osteoblast differentiation GO:0001649 9.79 NOG RUNX2 SMAD3
3 wound healing GO:0042060 9.78 NOG SMAD2 SMAD3
4 ossification GO:0001503 9.77 CCN2 COL2A1 RUNX2
5 developmental growth GO:0048589 9.67 SMAD2 SMAD3
6 endochondral ossification GO:0001958 9.67 COL2A1 RUNX2
7 skeletal system morphogenesis GO:0048705 9.67 COL2A1 RFLNA RUNX2
8 adrenal gland development GO:0030325 9.66 SMAD2 SMAD3
9 embryonic pattern specification GO:0009880 9.66 SMAD2 SMAD3
10 positive regulation of chondrocyte differentiation GO:0032332 9.65 RUNX2 SMAD3
11 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.65 SMAD2 SMAD3
12 tissue homeostasis GO:0001894 9.65 CCN2 COL2A1
13 ureteric bud development GO:0001657 9.65 NOG SMAD2 SMAD3
14 cartilage condensation GO:0001502 9.64 CCN2 COL2A1
15 signal transduction involved in regulation of gene expression GO:0023019 9.64 SMAD2 SMAD3
16 osteoblast development GO:0002076 9.63 RUNX2 SMAD3
17 regulation of muscle contraction GO:0006937 9.63 TNNI2 TNNT3
18 cellular response to BMP stimulus GO:0071773 9.63 COL2A1 NOG RUNX2
19 positive regulation of gene expression GO:0010628 9.63 CCN2 CDK1 NOG RUNX2 SMAD2 SMAD3
20 activin receptor signaling pathway GO:0032924 9.62 SMAD2 SMAD3
21 embryonic cranial skeleton morphogenesis GO:0048701 9.61 RUNX2 SMAD2 SMAD3
22 embryonic skeletal joint morphogenesis GO:0060272 9.59 COL2A1 NOG
23 endoderm formation GO:0001706 9.58 NOG SMAD2
24 nodal signaling pathway GO:0038092 9.58 SMAD2 SMAD3
25 mesoderm formation GO:0001707 9.58 NOG SMAD2 SMAD3
26 primary miRNA processing GO:0031053 9.57 SMAD2 SMAD3
27 embryonic foregut morphogenesis GO:0048617 9.56 SMAD2 SMAD3
28 pericardium development GO:0060039 9.55 SMAD2 SMAD3
29 regulation of ATPase activity GO:0043462 9.54 TNNT3 TPM2
30 endoderm development GO:0007492 9.54 NOG SMAD2 SMAD3
31 SMAD protein complex assembly GO:0007183 9.52 SMAD2 SMAD3
32 regulation of binding GO:0051098 9.51 SMAD2 SMAD3
33 skeletal muscle contraction GO:0003009 9.43 MYH3 TNNI2 TNNT3
34 skeletal system development GO:0001501 9.35 COL10A1 COL2A1 NOG RUNX2 SMAD3
35 paraxial mesoderm morphogenesis GO:0048340 9.32 SMAD2 SMAD3
36 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 9.71 CDK1 RUNX2 SMAD2 SMAD3
2 bHLH transcription factor binding GO:0043425 9.43 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 9.02 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....