SCDO5
MCID: SPN330
MIFTS: 55

Spondylocostal Dysostosis 5 (SCDO5)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spondylocostal Dysostosis 5

MalaCards integrated aliases for Spondylocostal Dysostosis 5:

Name: Spondylocostal Dysostosis 5 57 20 72 29 6
Spondylothoracic Dysostosis 57 20 43 72 6
Costovertebral Segmentation Anomalies 57 20 72
Spondylocostal Dysplasia 57 20 72
Jarcho-Levin Syndrome 20 43 70
Scdo5 57 20 72
Scoliosis, Congenital, with or Without Rib Anomalies 57 72
Tacs 57 72
Spondylocostal Dysostosis 4, Autosomal Dominant 70
Autosomal Dominant Spondylocostal Dysostosis 58
Autosomal Dominant Spondylocostal Dysplasia 58
Spondylothoracic Dysplasia 20
Std 43

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spondylocostal dysostosis
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
intrafamilial variability of features
a risk haplotype in addition to a null mutation is present in most patients


HPO:

31
spondylocostal dysostosis 5:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondylocostal Dysostosis 5

MedlinePlus Genetics : 43 Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.The spine and rib abnormalities, which are present from birth, cause other signs and symptoms of spondylothoracic dysostosis. Infants with this condition have small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia).Breathing problems can be fatal early in life; however, some affected individuals live into adulthood.Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a similar condition with abnormalities of the spine and ribs. The two conditions have been grouped in the past, and both are sometimes referred to as Jarcho-Levin syndrome; however, they are now considered distinct conditions.

MalaCards based summary : Spondylocostal Dysostosis 5, also known as spondylothoracic dysostosis, is related to spondylocostal dysostosis, autosomal recessive and spondylocostal dysostosis 1, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 5 is TBX6 (T-Box Transcription Factor 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Gene regulatory network modelling somitogenesis. The drugs Fluorouracil and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and cortex, and related phenotypes are scoliosis and intrauterine growth retardation

GARD : 20 Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs. The term "Jarcho-Levin syndrome " in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis, which has several common features with STD. Also, the term "Jarcho-Levin syndrome" is often used for all radiologic features that include defects of the vertebrae and abnormal rib alignment. Signs and symptoms of STD are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally-fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. It can occur in any population; however, it occurs most frequently in people of Puerto Rican ancestry. It is caused by changes ( mutations ) in the MESP2 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present and may include surgery for bone malformations and respiratory support.

UniProtKB/Swiss-Prot : 72 Spondylocostal dysostosis 5: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive.

More information from OMIM: 122600 PS277300

Related Diseases for Spondylocostal Dysostosis 5

Diseases in the Spondylocostal Dysostosis, Autosomal Recessive family:

Spondylocostal Dysostosis 5 Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 6, Autosomal Recessive

Diseases related to Spondylocostal Dysostosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis, autosomal recessive 30.9 TBX6 MESP2 HES7
2 spondylocostal dysostosis 1, autosomal recessive 30.1 MESP2 HES7
3 meningocele 29.9 MESP2 HES7
4 dysostosis 29.4 TBX6 MESP2 HES7
5 spondylocostal dysostosis 3, autosomal recessive 29.1 TBX6 MESP2 HES7
6 scoliosis 28.7 TBX6 MESP2 HES7
7 chlamydia 11.2
8 genital herpes 11.2
9 human immunodeficiency virus type 1 11.1
10 sunct headache 11.1
11 trichomoniasis 11.1
12 vacterl association, x-linked, with or without hydrocephalus 11.1
13 anogenital venereal wart 11.0
14 herpes simplex 11.0
15 syphilis 10.9
16 urethritis 10.7
17 bacterial vaginosis 10.5
18 pelvic inflammatory disease 10.5
19 human immunodeficiency virus infectious disease 10.5
20 hydrocephalus 10.4
21 vaginal discharge 10.4
22 candidiasis 10.4
23 cervicitis 10.4
24 substance abuse 10.4
25 chancroid 10.3
26 viral hepatitis 10.3
27 acquired immunodeficiency syndrome 10.3
28 cluster headache 10.3
29 headache 10.3
30 vesicoureteral reflux 1 10.3
31 chiari malformation type ii 10.3
32 chiari malformation 10.3
33 hepatitis b 10.3
34 immune deficiency disease 10.2
35 paroxysmal hemicrania 10.2
36 squamous cell papilloma 10.2
37 papilloma 10.2
38 transient pseudohypoaldosteronism 10.2
39 vaginitis 10.2
40 hemicrania continua 10.2
41 secondary syphilis 10.2
42 cervix uteri carcinoma in situ 10.2
43 cervical intraepithelial neoplasia 10.2
44 schizophrenia 10.1
45 meckel diverticulum 10.1
46 osteoporosis 10.1
47 pancreas, annular 10.1
48 syringomyelia, noncommunicating isolated 10.1
49 duodenal atresia 10.1
50 bone mineral density quantitative trait locus 8 10.1

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis 5:



Diseases related to Spondylocostal Dysostosis 5

Symptoms & Phenotypes for Spondylocostal Dysostosis 5

Human phenotypes related to Spondylocostal Dysostosis 5:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
4 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
5 short neck 58 31 occasional (7.5%) Frequent (79-30%) HP:0000470
6 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
9 short thorax 58 31 frequent (33%) Frequent (79-30%) HP:0010306
10 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
11 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
12 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
13 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
14 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
15 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
16 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
17 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
18 missing ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000921
19 posterior rib fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000913
20 pectus carinatum 31 occasional (7.5%) HP:0000768
21 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
22 syringomyelia 31 occasional (7.5%) HP:0003396
23 abnormal morphology of female internal genitalia 31 occasional (7.5%) HP:0000008
24 malformation of the heart and great vessels 58 Occasional (29-5%)
25 disproportionate short-trunk short stature 31 HP:0003521
26 abnormality of female internal genitalia 58 Occasional (29-5%)
27 abnormality of the ribs 58 Occasional (29-5%)
28 hemivertebrae 31 HP:0002937
29 vertebral fusion 31 HP:0002948
30 butterfly vertebrae 31 HP:0003316
31 supernumerary ribs 31 HP:0005815
32 low back pain 31 HP:0003419

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
hemivertebrae
butterfly vertebrae
fused vertebrae
syringomyelia (in some patients)

Growth Height:
short stature, disproportionate (short trunk)

Chest Ribs Sternum Clavicles And Scapulae:
missing ribs
pectus carinatum (in some patients)
rib abnormalities
fused ribs
extra ribs

Head And Neck Neck:
short neck (in some patients)

Clinical features from OMIM®:

122600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.13 HES7 MESP2 TBX6
2 limbs/digits/tail MP:0005371 8.8 HES7 MESP2 TBX6

Drugs & Therapeutics for Spondylocostal Dysostosis 5

Drugs for Spondylocostal Dysostosis 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 203)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 4 51-21-8 3385
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Lactitol Approved, Investigational Phase 4 585-86-4 157355
4
Phenylephrine Approved Phase 4 59-42-7 6041
5
Ephedrine Approved Phase 4 299-42-3 9294
6
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
7
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
8
Pseudoephedrine Approved Phase 4 90-82-4 7028
9
Iodine Approved, Investigational Phase 4 7553-56-2 807
10
Oxaliplatin Approved, Investigational Phase 4 61825-94-3 5310940 9887054 6857599 43805
11
leucovorin Approved Phase 4 58-05-9 6006
12
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
13
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
14
Abatacept Approved Phase 4 332348-12-6 10237
15
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
16
tannic acid Approved Phase 4 1401-55-4
17
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
18
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
19
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
20
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
21
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
22
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
23
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
24
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
25
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
26
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
27
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
28
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
29
Mycophenolic acid Approved Phase 4 24280-93-1 446541
30
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
31
alemtuzumab Approved, Investigational Phase 4 216503-57-0
32
Acetaminophen Approved Phase 4 103-90-2 1983
33
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
34
Promethazine Approved, Investigational Phase 4 60-87-7 4927
35
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
36
Chlorotrianisene Investigational, Withdrawn Phase 4 569-57-3 11289
37
Cadexomer iodine Experimental Phase 4 94820-09-4
38
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
39 Neurotransmitter Agents Phase 4
40 Liver Extracts Phase 4
41 Antimetabolites Phase 4
42 Anesthetics, Local Phase 4
43 Cathartics Phase 4
44 Cystatins Phase 4
45 Laxatives Phase 4
46 Sodium Channel Blockers Phase 4
47 Adrenergic alpha-Agonists Phase 4
48 Anti-Arrhythmia Agents Phase 4
49 Adrenergic Agonists Phase 4
50 Respiratory System Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 176)
# Name Status NCT ID Phase Drugs
1 Immunosuppression in Renal Transplantation in The Elderly: Time to Rethink. - nEverOld Study Unknown status NCT01631058 Phase 4 Everolimus
2 Optimal Timing and Duration of Daily G-CSF With Adjuvant TAC Chemotherapy in Node-positive Breast Cancer;Multicenter, Randomized, Open Label, Clinically IV Phase Unknown status NCT01571518 Phase 4 late leukostim;early leukostim
3 Comparative Efficacy of 20% Benzocaine Versus TAC Alternate Gel for Control of Pain of Dental Needle Insertion in the Palate Unknown status NCT00846690 Phase 4 benzocaine;TAC alternate gel
4 TAC vs TACE Plus folfox4 as the Treatment of Unresectalbe Liver Metastasis of Colorectal Cancer With Resection of the Primary Tumor: a Prospective, Randomized, Control Trial Unknown status NCT00868569 Phase 4
5 An Exploratory Evaluation of Early Use of Everolimus (EVE) on Tacrolimus (TAC)-Based Immunosuppressive Regiment vs. Mycophenolate Sodium (MPS) on Cytomegalovirus (CMV) Infection in Renal Transplant Recipients. Unknown status NCT01927588 Phase 4 Everolimus+Tacrolimus+Prednisone;Mycophenolate+Tacrolimus+Prednisone
6 Preoperative Transhepatic Arterial Chemotherapy in the Treatment of Liver Metastasis of Resectable Colorectal Cancer Unknown status NCT00874406 Phase 4 tac + folfox4;folfox4
7 Keloid Scarring:A Randomized Clinical and Laboratory Based Study on the Treatment and Differentiation Factors of the Local Disease Unknown status NCT01295099 Phase 4 5- fluorouracil;Triamcinolone
8 Cyclosporine in Hepatitis C Infection Viral Clearance Following Liver Transplantation Completed NCT00821587 Phase 4 Cyclosporine;Tacrolimus
9 Postoperative folfox4 Only vs folfox4 Plus TAC in the Treatment Unresectable Liver Metastasis of Colorectal Cancer: a Randomized,Prospective,Control Trial Completed NCT00869271 Phase 4
10 Randomized Conversion Of Epstein-Barr Virus (EBV)+ Kidney Transplant Recipients Of Living Or Standard Criteria Donors At Three Months Post Transplantation To Belatacept With MPA Or Belatacept With Low-Dose Tacrolimus (50% Of Dose) Compared To Patients Remaining On Center Specific Standard Therapy Of Tacrolimus And MPA Completed NCT02213068 Phase 4 belatacept;Tacrolimus;MPA
11 A Six-month, Prospective, Single-center, Pilot Study Determining the Pharmacokinetics and Effectiveness of Twice-daily Tacolimus and Everolimus Regimen Convert to Once-daily Tacrolimus and Everolimus Regimen in Liver Transplant Patients Completed NCT03256864 Phase 4 Tacrolimus and Everolimus
12 Transcranial Alternating Current Stimulation (tACS) Enhances Neurological Function Recovery Among Post-stroke Patients Completed NCT01200719 Phase 4
13 Compare Efficacy and Safety Between Biologics + Methotrexate (MTX) vs Biologics + Tacrolimus (TAC) (Switched From Biologics + Methotrexate (MTX)) in the Patients With Rheumatoid Arthritis (RA): Randomized, Interventional, Open, Active Controlled, Parallel Group, Multicenter-designed, Phase 4 Clinical Trial Completed NCT03737708 Phase 4 tacrolimus;methotrexate
14 Evaluating Safety and Efficacy of MMF, Daclizumab and Corticosteroids as Mainstay Immunosuppression in Combination With Low-Dose CsA, Tac or Sir in Comparison to Current Standard Immunosuppression (MMF, CsA and Corticosteroids) in Renal Tx Completed NCT00231764 Phase 4 daclizumab
15 Randomized Conversion of Calcineurin-Inhibitors(Tacrolimus to Sirolimus),6-24 Months Post Transplant Prednisone-Free Immunosuppression Regimen: Impact of Incidence of Acute Cellular Rejection,Renal Allograft Function & Lymphocytes Function Completed NCT00866879 Phase 4 Sirolimus
16 A Phase IV, Prospective, Randomized, Open-label, Comparative Analysis, Single-center Study of Pulse Wave Velocity Evaluation, Tacrolimus TTR and Co-efficient of Tacrolimus Variation of African American Kidney Recipients Receiving Standard of Care Immediate Release Tacrolimus Capsules or Extended Release Tacrolimus Tablets Recruiting NCT03841097 Phase 4 Extended Release Tacrolimus Tablets;Immediate Release Tacrolimus Capsule
17 A Multicenter Clinical Trial: Risk Factors of Chinese Kidney Transplant Recipients DSA Based on MPA Immunosuppressive Regimen Recruiting NCT04444843 Phase 4 Mycophenolate Mofetil Capsules
18 A Study in Adults on Pre LT Dialysis With Basiliximab, Delayed Tacrolimus (TAC), Mycophenolate (MMF), Steroids (Grp 1) vs. Basiliximab, Delayed TAC, MMF, Steroids, With Everolimus 30d Post LT(Grp 2), vs. TAC, MMF, Steroids (Grp 3). Not yet recruiting NCT04104438 Phase 4 Basiliximab 20 MG
19 A Phase 4 Multicenter, Randomized, Placebo Controlled Trial of 3 Doses of Intralesional Triamcinolone (KENALOG®) In the Treatment of Mild to Moderate Patch Type Alopecia Areata Terminated NCT01898806 Phase 4 Intralesional Triamcinolone 2.5 mg/ml;Intralesional Triamcinolone 5 mg/ml;Intralesional Triamcinolone 10 mg/ml;Intralesional Saline
20 A Phase IV, Single Center Pilot Study Using Alemtuzumab (Campath-1H) Induction Combined With Prednisone-Free, Calcineurin-Inhibitor-Free Immunosuppression in Kidney Transplantation Terminated NCT00166712 Phase 4 Tacrolimus (TAC);Sirolimus;Alemtuzumab;Mycophenolate mofetil (MMF)
21 Study to Assessment the Efficacy and Safety of Joint TAC and Exemestane as Neoadjuvant Chemotherapy in the Postmenopausal Women With Operable Breast Cancer Unknown status NCT01648608 Phase 2, Phase 3 Exemestane
22 Phase III Trial of TC Versus TAC in HER2-Negative Early Stage Breast Cancer Patients Unknown status NCT00493870 Phase 3 Docetaxel;Doxorubicin;Cyclophosphamide
23 A Study to Assess the Efficacy and Safety With Albumin-bound Paclitaxel (Abraxane) in the TAC as Neoadjuvant Chemotherapy in the Treatment of Operable Breast Cancer Unknown status NCT01647672 Phase 2, Phase 3 Abraxane
24 A Randomized, Phase III Study Comparing TAC (Docetaxel, Doxorubicin, Cyclophosphamide) With TCX ( Docetaxel, Cyclophosphamide, Capecitabine) as Adjuvant Treatment for Node-Positive Her2-Negative Breast Cancer Unknown status NCT01354522 Phase 3 Docetaxel, Doxorubicin, Cyclophosphamide;Docetaxel, Cyclophosphamide, Capecitabine
25 Randomized Control Trial of Transarterial Chemotherapy (TAC) Versus Oral Thalidomide and Capecitabine in the Treatment of Unresectable Hepatocellular Carcinoma Unknown status NCT02240771 Phase 2, Phase 3 Oral chemotherapy
26 A Multicentre, Randomised, Open-label, Controlled, 12-month Follow-up Study to Assess Impact on Renal Function of an Immunosuppression Regimen Based on Tacrolimus Minimisation in Association With Everolimus in de Novo Liver Transplant Recipients. The REDUCE Study. Completed NCT02040584 Phase 3 Minimisation of TAC;TAC + MMF + corticosteroids
27 A Multi-center Randomized Phase III Study Evaluating 4 Cycles of Docetaxel, Doxorubicin and Cyclophosphamide Versus 4 Cycles of Vinorelbine and Capecitabine in Patients Not Sufficiently Responding to 2 Cycles of TAC and 4 Cycles of TAC Versus 6 Cycles of TAC in Patients Sufficiently Responding to 2 Cycles of TAC as Preoperative Treatment of Locally Advanced or Operable Primary Breast Cancer Completed NCT00544765 Phase 3 TAC;NX
28 Multicenter, Open-Label, Randomized Study on Steroid-Free Immunosuppression, in Comparison With Daily Steroid Therapy, in Pediatric Renal Transplant : Impact on Growth, Bone Metabolism and Acute Rejection Completed NCT00707759 Phase 3 Tacrolimus (TAC)+ Mycophenolate Mofetil (MMF) + Withdrawal Prednisone;Tacrolimus (TAC)+ Mycophenolate Mofetil (MMF) + prednisolone
29 A Multicenter Phase III Randomized Trial Comparing Docetaxel in Combination With Doxorubicin and Cyclophosphamide (TAC) Versus 5-fluorouracil in Combination With Doxorubicin and Cyclophosphamide (FAC) as Adjuvant Treatment of Operable Breast Cancer Patients With Positive Axillary Lymph Nodes. Completed NCT00688740 Phase 3 Docetaxel;5-fluorouracil;Doxorubicin;Cyclophosphamide
30 A Phase III Randomized Trial With NEOadjuvant Chemotherapy (TAC) With or Without ZOledronic Acid for Patients With HER2- Negative Large Resectable or Locally Advanced Breast Cancer(NEO-ZOTAC) Completed NCT01099436 Phase 3 cyclophosphamide;docetaxel;doxorubicin hydrochloride;zoledronic acid
31 High Total Antioxidant Capacity (TAC) Products Added to Diet: Clinical and Instrumental Evaluation of Their Effect on Skin Surface Parameters and on Photo-induced Acute Damage of the Skin (Double Blind Clinical Study vs Placebo) Completed NCT00975728 Phase 3
32 A Phase III, Adjuvant Trial Comparing Three Chemotherapy Regimens in Women With Node-Positive Breast Cancer: Docetaxel/Doxorubicin/Cyclophosphamide (TAC); Dose-Dense (DD) Doxorubicin/Cyclophosphamide Followed By DD Paclitaxel (DD AC→P); DD AC Followed By DD Paclitaxel Plus Gemcitabine (DD AC→PG) Completed NCT00093795 Phase 3 Cyclophosphamide;Docetaxel;Gemcitabine;Paclitaxel;Doxorubicin
33 Phase III Randomized Comparing Docetaxel, Doxorubicin and Cyclophosphamide (TAC) vs 5-Fluorouracil, Doxorubicin and Cyclophosphamide (FAC) as Adjuvant Treatment of High Risk Operable Breast Cancer Patients With Negative Axillary Lymph Nodes Completed NCT00121992 Phase 3 Docetaxel;5-fluorouracil;Doxorubicin;Cyclophosphamide
34 Administration During Chemotherapy to Reduce Ovarian Failure Following Chemotherapy in Early Stage, Hormone-Receptor Negative Breast Cancer Completed NCT01530607 Phase 3 Standard cyclophosphamide;Goserelin (Zoladex)
35 A Multicenter Phase III Randomized Trial Comparing Docetaxel in Combination With Doxorubicin and Cyclophosphamide Versus Doxorubicin and Cyclophosphamide Followed by Docetaxel as Adjuvant Treatment of Operable Breast Cancer HER2neu Negative Patients With Positive Axillary Lymph Nodes Completed NCT00312208 Phase 3 docetaxel, doxorubicin, cyclophosphamide;Docetaxel,doxorubicin, cyclophosphamide
36 Tacrolimus, Mini-dose Methotrexate and Mycophenolate Mofetil Versus Tacrolimus and Methotrexate for the Prevention of Acute Graft-versus-Host-Disease Active, not recruiting NCT01951885 Phase 3 tacrolimus;methotrexate;Mycophenolate mofetil;Methotrexate (low dose)
37 A Phase III Clinical Trial Comparing the Combination of TC Plus Bevacizumab to TC Alone and to TAC for Women With Node-Positive or High-Risk Node-Negative, HER2-Negative Breast Cancer Active, not recruiting NCT00887536 Phase 3 bevacizumab;docetaxel;doxorubicin;cyclophosphamide;pegfilgrastim
38 A Phase 3, Randomized Study to Evaluate Plinabulin Versus Pegfilgrastim in the Prevention of Severe Neutropenia in Breast Cancer Patients Receiving Myelosuppressive Chemotherapy With Docetaxel, Doxorubicin, and Cyclophosphamide (TAC) (Protective 2) Active, not recruiting NCT03294577 Phase 3 Pegfilgrastim;Plinabulin;Docetaxel, doxorubicin, and cyclophosphamide (TAC)
39 A Prospective, Randomized, Open-Label, Pilot Study To Compare The Effect On Carotid Atherosclerosis Of A Tacrolimus-Based Regimen With Conversion From A Tacrolimus- To A Sirolimus-Based Regimen At 3-4 Months Post-Transplant In De Novo Renal Transplant Recipients Terminated NCT00311311 Phase 3 tacrolimus;mycophenolate mofetil;prednisone;sirolimus;tacrolimus;mycophenolate mofetil;prednisone
40 A Multi-Center, Randomized Study of Docetaxel, Anthracycline and Cyclophosphamide (TAC) Versus Docetaxel and Cyclophosphamide (TC) in Neoadjuvant Treatment of Triple-Negative or Her2 Positive Breast Cancer Terminated NCT00912444 Phase 3 Docetaxel, Anthracycline (Doxorubicin or Epirubicin), Cyclophosphamide;Docetaxel, cyclophosphamide
41 Pharmacokinetics of Sirolimus and Tacrolimus in Liver Transplant Recipients With Early Nephrotoxicity and/or Hypertension Due to Tacrolimus Terminated NCT01709136 Phase 2, Phase 3 Sirolimus
42 Phase III Study Comparing Rituximab-supplemented ABVD (R-ABVD) With ABVD Followed by Involved-field Radiotherapy (ABVD-RT) in Limited Stage (Stage I-IIA With no Areas of Bulk) Hodgkin's Lymphoma Terminated NCT00992030 Phase 3 Rituximab
43 A 6-month, Prospective, Open-label, Randomized, Controlled, Pilot Study Evaluating the Efficacy, Safety and Toxicity of an Optimized Immunosuppressive Regimen of CellCept (Mycophenolate Mofetil, MMF) and Reduced Doses of Both Calcineurin-inhibitors and Prednisone in Renal Transplant Recipients With an Increased 10-year Coronary Heart Disease Risk Terminated NCT01213394 Phase 3 mycophenolate mofetil
44 A 24-month Multi-center, Open-label, Randomized, Controlled Study to Evaluate the Evolution of Renal Function in Maintenance Liver Transplant Recipients Receiving Either RAD001 (Everolimus) Plus Reduced TAC or RAD001 (Everolimus) Plus Mycophenolate Mofetil (MMF) Withdrawn NCT03596970 Phase 3 TAC withdrawal;Everolimus with reduced TAC
45 A Randomized, Phase II Study Comparing Standard Chemotherapy (TA-Taxol+Epirubicin or TAC-Taxol+Epirubicin+Cyclophosphamide) With Standard Chemotherapy (TA or TAC) Followed by Capecitabine (X) as Prolonged Postoperative Adjuvant Treatment for Breast Cancer Unknown status NCT02842099 Phase 2 TA or TAC;X
46 A Phase IIa, Open Label, Controlled, Dose Ranging Study of Maxy-G34 as an Adjunct to TAC Chemotherapy in High-Risk Patients With Stage I, II, or IIIa Breast Cancer. Unknown status NCT00501332 Phase 2
47 A Multicenter, Placebo-Controlled, Double-Blind Randomized Phase II Trial of Neoadjuvant Treatment With Single-Agent Bevacizumab or Placebo, Followed by Six Cycles of Docetaxel, Doxorubicin, and Cyclophosphamide (TAC), With or Without Bevacizumab in Patients With Stage II or Stage III Breast Cancer Completed NCT00203372 Phase 2 Bevacizumab 7.5 and TAC;Placebo 7.5 and Docetaxel, Doxorubicin, and Cyclophosphamide (TAC);Bevacizumab 15 and TAC;Placebo 15 and TAC
48 PHASE I/II STUDY OF TAC-EXPRESSING ADULT T-CELL LEUKEMIA (ATL) WITH YTTRIUM-90 (90Y)-RADIOLABELED HUMANIZED ANTI-TAC AND CALCIUM-DTPA Completed NCT00019227 Phase 1, Phase 2 pentetic acid calcium
49 A Phase I/II Study of the Efficacy and Toxicity of Humanized Anti-Tac (Zenapax(Trademark)) in the Therapy of Tac-Expressing Adult T-Cell Leukemia Completed NCT00001941 Phase 1, Phase 2
50 A Randomized, Open-label Study Comparing the Systemic Exposure to Triamcinolone Acetonide Following a Single Intra-articular Dose of Extended-release FX006 or Immediate-release TAcs (Triamcinolone Acetonide Suspension) in Patients With Osteoarthritis of the Shoulder (Glenohumeral Joint) or Hip Completed NCT03382262 Phase 2 FX006 32 mg;TAcs 40 mg

Search NIH Clinical Center for Spondylocostal Dysostosis 5

Genetic Tests for Spondylocostal Dysostosis 5

Genetic tests related to Spondylocostal Dysostosis 5:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 5 29 TBX6

Anatomical Context for Spondylocostal Dysostosis 5

MalaCards organs/tissues related to Spondylocostal Dysostosis 5:

40
Liver, Bone, Cortex, T Cells, Heart, Brain, Breast

Publications for Spondylocostal Dysostosis 5

Articles related to Spondylocostal Dysostosis 5:

(show all 43)
# Title Authors PMID Year
1
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 6 57
25564734 2015
2
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 57 6
23335591 2013
3
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. 6 57
20503311 2010
4
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. 61 6
18485326 2008
5
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. 61 57
3740094 1986
6
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. 57
31015262 2019
7
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. 57
30636772 2019
8
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. 57
28054739 2017
9
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. 6
23897666 2013
10
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 6
20087400 2010
11
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 6
18775957 2008
12
Mutated MESP2 causes spondylocostal dysostosis in humans. 6
15122512 2004
13
Spondylocostal dysostosis: dominant type. 57
2309760 1990
14
Congenital spinal deformity in a three generation family. 57
3236365 1988
15
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism. 57
5722643 1968
16
[Polydysspondylic syndrome due to 14-15 translocation and dyschondrosteosis in the same subject. Familial segregation]. 57
13950852 1963
17
[Chromosome aberrations & human diseases; multiple spinal abnormalities with 45 chromosomes]. 57
13671780 1959
18
Anaesthetic management of a parturient with spondylothoracic dysostosis. 61
31980478 2020
19
Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up. 61
30448585 2019
20
Notch signaling in skeletal health and disease. 61
23554451 2013
21
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. 61
23238123 2013
22
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. 61
23546915 2013
23
Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation. 61
22565932 2012
24
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). 61
21990102 2011
25
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). 61
21174082 2011
26
Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis. 61
15876776 2005
27
[Spondylocostal dysostosis: a rare genetic disease]. 61
15562550 2004
28
Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. 61
15223937 2004
29
Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. 61
12949975 2003
30
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. 61
12833407 2003
31
Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy. 61
12575026 2003
32
Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly. 61
12416639 2002
33
Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature. 61
10461076 1999
34
Jarcho-Levin syndrome: a new case report with unusual unexplained aortic root dilatation. 61
9419932 1997
35
Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. 61
9327269 1997
36
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. 61
8834041 1996
37
Congenital heart disease in spondylothoracic dysostosis: two familial cases. 61
7473656 1995
38
Jarcho-Levin syndrome: unusual survival in a classical case. 61
8209895 1994
39
Jarcho-Levin syndrome--a report of an autopsy case with cytogenetic analysis. 61
8179836 1993
40
Jarcho-Levin syndrome: four new cases and classification of subtypes. 61
1951427 1991
41
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. 61
3339042 1988
42
Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. 61
3554211 1987
43
Spondylothoracic dysostosis: report of two cases and review of the literature. 61
350188 1978

Variations for Spondylocostal Dysostosis 5

ClinVar genetic disease variations for Spondylocostal Dysostosis 5:

6 (show top 50) (show all 121)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HES7 NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr) SNV Pathogenic 30697 rs387906978 GRCh37: 17:8025011-8025011
GRCh38: 17:8121693-8121693
2 HES7 NM_001165967.2(HES7):c.172A>G (p.Ile58Val) SNV Pathogenic 30698 rs387906979 GRCh37: 17:8025715-8025715
GRCh38: 17:8122397-8122397
3 TBX6 NM_004608.3(TBX6):c.1179_1180del (p.Gly395fs) Deletion Pathogenic 252362 rs879253857 GRCh37: 16:30097677-30097678
GRCh38: 16:30086356-30086357
4 TBX6 NM_004608.3(TBX6):c.844C>T (p.Arg282Ter) SNV Pathogenic 188052 rs201620629 GRCh37: 16:30098168-30098168
GRCh38: 16:30086847-30086847
5 HES7 NM_001165967.2(HES7):c.400_409dup (p.Arg137fs) Duplication Pathogenic 91404 rs398122970 GRCh37: 17:8025172-8025173
GRCh38: 17:8121854-8121855
6 TBX6 NM_004608.3(TBX6):c.1311A>T (p.Ter437Cys) SNV Pathogenic 100633 rs587777113 GRCh37: 16:30097546-30097546
GRCh38: 16:30086225-30086225
7 TBX6 NM_004608.3(TBX6):c.1250dup (p.Leu419fs) Duplication Pathogenic 188054 rs786204039 GRCh37: 16:30097606-30097607
GRCh38: 16:30086285-30086286
8 TBX6 NM_004608.3(TBX6):c.266dup (p.Val91fs) Duplication Pathogenic 188055 rs786204040 GRCh37: 16:30102165-30102166
GRCh38: 16:30090844-30090845
9 TBX6 NM_004608.3(TBX6):c.704dup (p.Met236fs) Duplication Pathogenic 243053 rs758051786 GRCh37: 16:30100077-30100078
GRCh38: 16:30088756-30088757
10 TBX6 NM_004608.3(TBX6):c.1169dup (p.His391fs) Duplication Pathogenic 243054 rs879253776 GRCh37: 16:30097687-30097688
GRCh38: 16:30086366-30086367
11 TBX6 NM_004608.3(TBX6):c.221dup (p.Thr75fs) Duplication Pathogenic 599077 rs1567342899 GRCh37: 16:30102210-30102211
GRCh38: 16:30090889-30090890
12 HES7 NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) SNV Pathogenic 30696 rs113994160 GRCh37: 17:8026414-8026414
GRCh38: 17:8123096-8123096
13 TBX6 NM_004608.3(TBX6):c.-49+34G>T SNV Pathogenic 188053 rs3809627 GRCh37: 16:30103160-30103160
GRCh38: 16:30091839-30091839
14 TBX6 NM_004608.3(TBX6):c.434C>T (p.Pro145Leu) SNV Pathogenic 188056 rs202193096 GRCh37: 16:30100451-30100451
GRCh38: 16:30089130-30089130
15 MESP2 NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) Duplication Pathogenic 5183 rs113994158 GRCh37: 15:90320084-90320085
GRCh38: 15:89776853-89776854
16 MESP2 NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) SNV Pathogenic 5184 rs71647808 GRCh37: 15:90319895-90319895
GRCh38: 15:89776664-89776664
17 MESP2 NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) SNV Pathogenic 5185 rs71647806 GRCh37: 15:90319961-90319961
GRCh38: 15:89776730-89776730
18 MESP2 NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) SNV Pathogenic 5186 rs118204035 GRCh37: 15:90320288-90320288
GRCh38: 15:89777057-89777057
19 MESP2 NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu) SNV Pathogenic 38908 rs113994156 GRCh37: 15:90319859-90319859
GRCh38: 15:89776628-89776628
20 MESP2 NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe) SNV Pathogenic 38909 rs113994157 GRCh37: 15:90319973-90319973
GRCh38: 15:89776742-89776742
21 overlap with 27 genes Deletion Pathogenic 243052 GRCh37: 16:29651599-30199709
GRCh38:
22 TBX6 NM_004608.4(TBX6):c.1148C>A (p.Ser383Ter) SNV Pathogenic 827682 GRCh37: 16:30097709-30097709
GRCh38: 16:30086388-30086388
23 MESP2 NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter) SNV Likely pathogenic 557334 rs762067626 GRCh37: 15:90319838-90319838
GRCh38: 15:89776607-89776607
24 MESP2 NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs) Duplication Likely pathogenic 557032 rs1555439061 GRCh37: 15:90319930-90319931
GRCh38: 15:89776699-89776700
25 MESP2 NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter) SNV Likely pathogenic 556996 rs1555439118 GRCh37: 15:90320174-90320174
GRCh38: 15:89776943-89776943
26 MESP2 NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter) SNV Likely pathogenic 554365 rs1555439152 GRCh37: 15:90320325-90320325
GRCh38: 15:89777094-89777094
27 MESP2 NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter) SNV Likely pathogenic 555826 rs1206731716 GRCh37: 15:90319704-90319704
GRCh38: 15:89776473-89776473
28 MESP2 NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) Deletion Likely pathogenic 555370 rs1452984345 GRCh37: 15:90319844-90319847
GRCh38: 15:89776613-89776616
29 MESP2 NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) SNV Likely pathogenic 554878 rs1555439013 GRCh37: 15:90319599-90319599
GRCh38: 15:89776368-89776368
30 MESP2 NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter) SNV Likely pathogenic 552595 rs912110093 GRCh37: 15:90319636-90319636
GRCh38: 15:89776405-89776405
31 MESP2 NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter) SNV Likely pathogenic 551651 rs1555439063 GRCh37: 15:90319937-90319937
GRCh38: 15:89776706-89776706
32 MESP2 NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter) SNV Likely pathogenic 551110 rs538996447 GRCh37: 15:90319817-90319817
GRCh38: 15:89776586-89776586
33 MESP2 NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) SNV Likely pathogenic 38907 rs118204034 GRCh37: 15:90319829-90319829
GRCh38: 15:89776598-89776598
34 TBX6 NM_004608.3(TBX6):c.356G>A (p.Arg119His) SNV Likely pathogenic 694403 rs200175825 GRCh37: 16:30100529-30100529
GRCh38: 16:30089208-30089208
35 MESP2 NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs) Duplication Likely pathogenic 557590 rs1555439049 GRCh37: 15:90319832-90319833
GRCh38: 15:89776601-89776602
36 MESP2 NM_001039958.2(MESP2):c.957G>A (p.Ser319=) SNV Conflicting interpretations of pathogenicity 257250 rs752665246 GRCh37: 15:90321328-90321328
GRCh38: 15:89778097-89778097
37 MESP2 NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup) Duplication Uncertain significance 549989 rs1468688261 GRCh37: 15:90319773-90319774
GRCh38: 15:89776542-89776543
38 MESP2 NM_001039958.2(MESP2):c.787C>G (p.Gln263Glu) SNV Uncertain significance 1028982 GRCh37: 15:90320375-90320375
GRCh38: 15:89777144-89777144
39 TBX6 NM_004608.4(TBX6):c.1174G>T (p.Gly392Trp) SNV Uncertain significance 1028280 GRCh37: 16:30097683-30097683
GRCh38: 16:30086362-30086362
40 MESP2 NM_001039958.2(MESP2):c.1155_1157AGA[1] (p.Glu386del) Microsatellite Uncertain significance 550958 rs543667424 GRCh37: 15:90321525-90321527
GRCh38: 15:89778294-89778296
41 MESP2 NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter) SNV Uncertain significance 550540 rs1317833419 GRCh37: 15:90321515-90321515
GRCh38: 15:89778284-89778284
42 MESP2 NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del) Deletion Uncertain significance 551393 rs1555439163 GRCh37: 15:90320388-90320393
GRCh38: 15:89777157-89777162
43 MESP2 NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter) SNV Uncertain significance 554632 rs1420321324 GRCh37: 15:90321522-90321522
GRCh38: 15:89778291-89778291
44 MESP2 NM_001039958.2(MESP2):c.*210C>G SNV Uncertain significance 317400 rs886051548 GRCh37: 15:90321775-90321775
GRCh38: 15:89778544-89778544
45 MESP2 NM_001039958.2(MESP2):c.585A>G (p.Gly195=) SNV Uncertain significance 317390 rs113636330 GRCh37: 15:90320173-90320173
GRCh38: 15:89776942-89776942
46 MESP2 NM_001039958.2(MESP2):c.*182C>T SNV Uncertain significance 317399 rs553766281 GRCh37: 15:90321747-90321747
GRCh38: 15:89778516-89778516
47 MESP2 NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu) SNV Uncertain significance 317394 rs886051546 GRCh37: 15:90320379-90320379
GRCh38: 15:89777148-89777148
48 MESP2 NM_001039958.2(MESP2):c.*101G>C SNV Uncertain significance 317396 rs761831896 GRCh37: 15:90321666-90321666
GRCh38: 15:89778435-89778435
49 MESP2 NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu) SNV Uncertain significance 317387 rs776642665 GRCh37: 15:90320144-90320144
GRCh38: 15:89776913-89776913
50 MESP2 NM_001039958.2(MESP2):c.573G>A (p.Gly191=) SNV Uncertain significance 317389 rs113097169 GRCh37: 15:90320161-90320161
GRCh38: 15:89776930-89776930

Expression for Spondylocostal Dysostosis 5

Search GEO for disease gene expression data for Spondylocostal Dysostosis 5.

Pathways for Spondylocostal Dysostosis 5

Pathways related to Spondylocostal Dysostosis 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 TBX6 HES7
2 9.84 TBX6 MESP2 HES7

GO Terms for Spondylocostal Dysostosis 5

Cellular components related to Spondylocostal Dysostosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.8 TBX6 MESP2 HES7

Biological processes related to Spondylocostal Dysostosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.58 TBX6 MESP2 HES7
2 regulation of transcription, DNA-templated GO:0006355 9.54 TBX6 MESP2 HES7
3 multicellular organism development GO:0007275 9.5 TBX6 MESP2 HES7
4 Notch signaling pathway GO:0007219 9.26 MESP2 HES7
5 mesoderm development GO:0007498 9.16 TBX6 HES7
6 mesoderm formation GO:0001707 8.96 TBX6 MESP2
7 somite rostral/caudal axis specification GO:0032525 8.62 TBX6 MESP2

Molecular functions related to Spondylocostal Dysostosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.5 TBX6 MESP2 HES7
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.33 TBX6 MESP2 HES7
3 protein dimerization activity GO:0046983 9.26 MESP2 HES7
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.13 TBX6 MESP2 HES7
5 sequence-specific double-stranded DNA binding GO:1990837 8.8 TBX6 MESP2 HES7

Sources for Spondylocostal Dysostosis 5

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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
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71 UMLS via Orphanet
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