MCID: SKL017
MIFTS: 43

Skeletal Dysplasias

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Skeletal Dysplasias

MalaCards integrated aliases for Skeletal Dysplasias:

Name: Skeletal Dysplasias 53
Osteochondrodysplasias 53 55 73

Classifications:



External Ids:

ICD10 33 Q78.8
UMLS 73 C0029422

Summaries for Skeletal Dysplasias

MalaCards based summary : Skeletal Dysplasias, also known as osteochondrodysplasias, is related to osteochondrodysplasia and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Skeletal Dysplasias is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. The drugs Alendronate and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and bone marrow, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 76 Osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development... more...

Related Diseases for Skeletal Dysplasias

Diseases related to Skeletal Dysplasias via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 439)
# Related Disease Score Top Affiliating Genes
1 osteochondrodysplasia 33.8 COL2A1 FGFR3 PTH1R
2 spondyloepiphyseal dysplasia with congenital joint dislocations 33.1 COL2A1 FGFR3
3 thanatophoric dysplasia, type i 32.7 COMP FGFR3 PTH1R
4 multiple epiphyseal dysplasia 32.3 COL2A1 COMP MATN3
5 diastrophic dysplasia 32.1 COL2A1 COMP
6 brachyolmia 32.0 COL2A1 TRPV4
7 spondyloepimetaphyseal dysplasia, matrilin-3 related 31.8 COL2A1 MATN3
8 kniest dysplasia 31.8 COL2A1 COMP HSPG2 TRPV4
9 blount's disease 31.6 PTH1R TRPV4
10 hypochondrogenesis 31.3 COL2A1 COMP TRPV4
11 epiphyseal dysplasia, multiple, 3 31.3 COMP MATN3
12 epiphyseal dysplasia, multiple, 5 31.3 COMP MATN3
13 metaphyseal chondrodysplasia, jansen type 31.2 COL2A1 FGFR3 PTH1R TRPV4
14 epiphyseal dysplasia, multiple, 1 31.2 COMP MATN3
15 pseudoachondroplasia 31.0 COMP MATN3
16 atelosteogenesis 30.1 FGFR3 FLNA
17 hypochondroplasia 30.0 FGFR3 NPPC
18 brittle bone disorder 29.9 COL2A1 FGFR3 PTH1R
19 achondroplasia 29.9 COMP FGFR3 NPPC PTH1R
20 acromesomelic dysplasia, maroteaux type 29.8 FGFR3 NPPC
21 brachydactyly 29.7 COL2A1 COMP FGFR3 TRPV4
22 spondyloepiphyseal dysplasia congenita 29.5 COL2A1 COMP FGFR3
23 pyle disease 29.5 COL2A1 POP1 PTH1R
24 achondrogenesis, type ii 29.5 COL2A1 COMP TRPV4
25 metaphyseal chondrodysplasia, schmid type 29.4 COMP MATN3
26 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.6
27 platyspondylic lethal skeletal dysplasia, torrance type 12.6
28 microphthalmia/coloboma and skeletal dysplasia syndrome 12.4
29 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.4
30 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.2
31 short-limb skeletal dysplasia with severe combined immunodeficiency 12.2
32 cantu syndrome 12.2
33 greenberg dysplasia 12.2
34 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 12.2
35 mental retardation, skeletal dysplasia, and abducens palsy 12.2
36 skeletal dysplasia, san diego type 12.1
37 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 12.1
38 skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome 12.1
39 lethal short-limb skeletal dysplasia, al gazali type 12.1
40 osebold skeletal dysplasia/osteolysis syndrome 12.1
41 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.0
42 hirsutism, skeletal dysplasia, and mental retardation 12.0
43 skeletal dysplasia with delayed epiphyseal and carpal bone ossification 12.0
44 skeletal dysplasia and progressive central nervous system degeneration, lethal 12.0
45 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 12.0
46 pierre robin syndrome skeletal dysplasia polydactyly 12.0
47 skeletal dysplasia orofacial anomalies 12.0
48 epimetaphyseal skeletal dysplasia 12.0
49 congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome 12.0
50 gurrieri syndrome 11.8

Graphical network of the top 20 diseases related to Skeletal Dysplasias:



Diseases related to Skeletal Dysplasias

Symptoms & Phenotypes for Skeletal Dysplasias

MGI Mouse Phenotypes related to Skeletal Dysplasias:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 COL2A1 COMP FGFR3 FLNA HSPG2 PTH1R
2 growth/size/body region MP:0005378 10.06 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
3 homeostasis/metabolism MP:0005376 10.01 COL2A1 COMP FGFR3 FLNA HSPG2 NPPC
4 cardiovascular system MP:0005385 9.99 COL2A1 COMP FLNA HSPG2 PTH1R TRPV4
5 craniofacial MP:0005382 9.97 COL2A1 FGFR3 FLNA HSPG2 NPPC PTH1R
6 immune system MP:0005387 9.91 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
7 digestive/alimentary MP:0005381 9.88 COL2A1 FGFR3 FLNA HSPG2 PTH1R
8 limbs/digits/tail MP:0005371 9.87 COL2A1 COMP FGFR3 HSPG2 MATN3 NPPC
9 nervous system MP:0003631 9.8 COL2A1 FGFR3 FLNA HSPG2 NPPC PTH1R
10 hearing/vestibular/ear MP:0005377 9.73 COL2A1 FGFR3 HSPG2 TRPV4
11 respiratory system MP:0005388 9.63 COL2A1 FGFR3 FLNA HSPG2 PTH1R TRPV4
12 skeleton MP:0005390 9.56 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
13 vision/eye MP:0005391 9.1 COL2A1 FGFR3 FLNA HSPG2 PTH1R TRPV4

Drugs & Therapeutics for Skeletal Dysplasias

Drugs for Skeletal Dysplasias (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 2 66376-36-1, 121268-17-5 2088
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 40391-99-9 4674
4
Methyclothiazide Approved Phase 4 135-07-9 4121
5
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
10 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Micronutrients Phase 4,Phase 3
12 Ergocalciferols Phase 4
13 Trace Elements Phase 4,Phase 3
14 Vitamins Phase 4,Phase 3,Phase 2
15 Vitamin D2 Phase 4
16 Calciferol Phase 4,Phase 2
17 Gentamicins Phase 4
18 Anti-Bacterial Agents Phase 4
19 Sodium Chloride Symporter Inhibitors Phase 4
20 diuretics Phase 4
21 Natriuretic Agents Phase 4,Phase 3,Phase 2
22 Vaccines Phase 4
23
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable 75607-67-9, 21679-14-1 30751
24
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
25
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
26
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
27
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 55-98-1 2478
28
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
29
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
30
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3 216503-57-0
31
Etidronic acid Approved Phase 2, Phase 3,Phase 3 7414-83-7, 2809-21-4 3305
32
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
33
Denosumab Approved Phase 3,Phase 2 615258-40-7
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
35
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
36 Dermatologic Agents Phase 2, Phase 3,Phase 1
37 Vitamin B9 Phase 2, Phase 3
38 Folic Acid Antagonists Phase 2, Phase 3
39 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1
40 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
41 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
42 Antilymphocyte Serum Phase 2, Phase 3
43 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
44 Cyclosporins Phase 2, Phase 3,Phase 1,Not Applicable
45 Vitamin B Complex Phase 2, Phase 3
46 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
48 Antifungal Agents Phase 2, Phase 3,Phase 1
49 Thymoglobulin Phase 2, Phase 3
50 Antimetabolites Phase 2, Phase 3,Phase 3

Interventional clinical trials:

(show top 50) (show all 149)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
2 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
3 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 A Study to Assess the Long-term Performance of SmartSet® HV and SmartSet® GHV Bone Cements in Primary Total Hip Replacement Completed NCT00872066 Phase 4
6 A Randomised Single Centre Study to Compare the Long-term Wear Characteristics of Marathon™ and Enduron™ Polyethylene Cup Liners in Primary Total Hip Replacement Completed NCT00208442 Phase 4
7 Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid Recruiting NCT03735537 Phase 4 Teriparatide Pen Injector;Zoledronic Acid
8 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
9 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
10 A Randomised Study to Compare Metal Ion Release and Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-Metal or a Metal-on-Metal Bearing Terminated NCT00873444 Phase 4
11 A Single Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00872794 Phase 4
12 A Two Centre Study to Assess the Stability and Long-term Performance of the C-Stem™ AMT in a Total Primary Hip Replacement Terminated NCT00872573 Phase 4
13 Multi-Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Resurfacing and Primary Total Hip Replacement Terminated NCT00872547 Phase 4
14 A Single Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Ceramic-on-ceramic Bearing in Primary Total Hip Replacement Terminated NCT00872222 Phase 4
15 A Multi-centre Study to Assess the Long-term Performance of the Summit™ Hip in Primary Total Hip Replacement Terminated NCT00208390 Phase 4
16 A Multi-centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00208377 Phase 4
17 A Two Centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Metal-on-Metal Bearing in Primary Total Hip Replacement Terminated NCT00208364 Phase 4
18 A Multi-centre Study to Assess the Long-term Performance of the Pinnacle™ Cup With a Polyethylene-on-metal Bearing in Primary Total Hip Replacement Withdrawn NCT00208429 Phase 4
19 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen);Cyclosporin, Methotrexate (GVHD prophylaxis)
20 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
21 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
22 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
23 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
24 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
25 An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta Completed NCT00982124 Phase 3 Zoledronic Acid
26 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
27 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
28 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
29 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
30 Open-label Extension Denosumab Study in Children and Young Adults With Osteogenesis Imperfecta Recruiting NCT03638128 Phase 3 Denosumab
31 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
32 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03197766 Phase 3 BMN 111;Placebo
33 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
34 A Randomised Multi-centre Study to Compare the Long-term Performance of the Future Hip to 3 Other Implants in Primary Total Hip Replacement Terminated NCT00208468 Phase 3
35 A Randomised Single Centre Study to Compare the Long-term Performance of 4 Designs of the DePuy Ultima LX Stem in Primary Total Hip Replacement Terminated NCT00208351 Phase 3
36 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
37 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
38 Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treated Children Completed NCT01111019 Phase 2 Recombinant human growth hormone (Somatropin)
39 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
40 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
41 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
42 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
43 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
44 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
45 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
46 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
47 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
48 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
49 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
50 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2

Search NIH Clinical Center for Skeletal Dysplasias

Genetic Tests for Skeletal Dysplasias

Anatomical Context for Skeletal Dysplasias

MalaCards organs/tissues related to Skeletal Dysplasias:

41
Bone, T Cells, Bone Marrow, Lung, Brain, Heart, B Cells

Publications for Skeletal Dysplasias

Articles related to Skeletal Dysplasias:

(show top 50) (show all 249)
# Title Authors Year
1
Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities. ( 29409074 )
2018
2
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
3
Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. ( 29907962 )
2018
4
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. ( 29878396 )
2018
5
What Is New in Prenatal Skeletal Dysplasias? ( 29528710 )
2018
6
Early-Onset Spinal Deformity in Skeletal Dysplasias: A Multicenter Study of Growth-Friendly Systems. ( 29886923 )
2018
7
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. ( 30080953 )
2018
8
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. ( 30408610 )
2018
9
Skeletal Dysplasias: Growing Therapy for Growing Bones. ( 28321190 )
2017
10
Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know. ( 28808977 )
2017
11
Pelvic radiograph in skeletal dysplasias: An approach. ( 28744080 )
2017
12
Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study. ( 28888399 )
2017
13
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. ( 28067412 )
2017
14
Best practices in peri-operative management of patients with skeletal dysplasias. ( 28763154 )
2017
15
Bone robusticity in two distinct skeletal dysplasias diverges from established patterns. ( 28186356 )
2017
16
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. ( 27904917 )
2017
17
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series. ( 28180199 )
2017
18
Emerging targeted drug therapies in skeletal dysplasias. ( 27155200 )
2016
19
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. ( 27866314 )
2016
20
The potential of induced pluripotent stem cells as a tool to study skeletal dysplasias and cartilage-related pathologic conditions. ( 27919783 )
2016
21
Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources. ( 27218215 )
2016
22
Normal Fetal Long Bone Length from Computed Tomography: Potential Value in the Prenatal Evaluation of Skeletal Dysplasias. ( 27070838 )
2016
23
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
24
Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports. ( 27057899 )
2016
25
The Radiograph of the Pelvis as a Window to Skeletal Dysplasias. ( 26821546 )
2016
26
Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment. ( 26135769 )
2015
27
Skeletal Dysplasias: An Overview. ( 26138847 )
2015
28
Rigid fixation improves outcomes of spinal fusion for C1-C2 instability in children with skeletal dysplasias. ( 25653324 )
2015
29
Significant clinical benefits of molecular studies in the skeletal dysplasias. ( 25691403 )
2015
30
Guidelines for genetic skeletal dysplasias for pediatricians. ( 26817005 )
2015
31
Skeletal dysplasias. ( 26042906 )
2015
32
Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias. ( 26350084 )
2015
33
Mesenchymal Stem Cells And C-Type Natriuretic Peptide Signaling: A Proposal Of A New Treatment Approach For Skeletal Dysplasias. ( 25643123 )
2015
34
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center. ( 26376227 )
2015
35
Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. ( 25349664 )
2014
36
Nationwide radiation dose survey of computed tomography for fetal skeletal dysplasias. ( 24737001 )
2014
37
Genetic skeletal dysplasias: A guide to diagnosis and management. ( 25391330 )
2014
38
Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases. ( 24863959 )
2014
39
Fetal skeletal dysplasias: sonographic indices associated with adverse outcomes. ( 24866616 )
2014
40
Ophthalmic manifestations of systemic diseases--part 2: metabolic, infections, granulomatoses, demyelination, and skeletal dysplasias. ( 25088219 )
2014
41
Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias. ( 26942100 )
2014
42
Interactive digital atlas of skeletal surveys for common skeletal dysplasias. ( 23455307 )
2013
43
Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century. ( 23657117 )
2013
44
Education and related support from medical specialists for Japanese patients with major skeletal dysplasias. ( 24060264 )
2013
45
Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology. ( 22744731 )
2013
46
Low-dose fetal CT in the prenatal evaluation of skeletal dysplasias and other severe skeletal abnormalities. ( 23617480 )
2013
47
Body mass index (BMI): the case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias. ( 23798488 )
2013
48
Mortality of congenital osteochondrodysplasias: a nationwide registry-based study. ( 23687076 )
2013
49
Neonatal skeletal dysplasias. ( 22395727 )
2012
50
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). ( 21863289 )
2012

Variations for Skeletal Dysplasias

Expression for Skeletal Dysplasias

Search GEO for disease gene expression data for Skeletal Dysplasias.

Pathways for Skeletal Dysplasias

Pathways related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 COL2A1 COMP HSPG2 MATN3
2
Show member pathways
11.51 COL2A1 COMP HSPG2
3 11.08 COMP MATN3
4 10.81 COL2A1 COMP
5 10.61 COL2A1 FGFR3 PTH1R

GO Terms for Skeletal Dysplasias

Cellular components related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 COL2A1 COMP HSPG2 MATN3 NPPC POP1
2 collagen-containing extracellular matrix GO:0062023 9.5 COL2A1 COMP HSPG2
3 extracellular region GO:0005576 9.5 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
4 focal adhesion GO:0005925 9.46 FGFR3 FLNA HSPG2 TRPV4
5 extracellular matrix GO:0031012 8.92 COL2A1 COMP HSPG2 MATN3

Biological processes related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.5 COL2A1 NPPC PTH1R
2 extracellular matrix organization GO:0030198 9.46 COL2A1 COMP HSPG2 MATN3
3 actin cytoskeleton reorganization GO:0031532 9.43 FLNA TRPV4
4 bone mineralization GO:0030282 9.4 FGFR3 PTH1R
5 endochondral ossification GO:0001958 9.37 COL2A1 FGFR3
6 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.26 COL2A1 TRPV4
7 chondrocyte differentiation GO:0002062 9.13 COL2A1 FGFR3 PTH1R
8 skeletal system development GO:0001501 9.02 COL2A1 COMP FGFR3 MATN3 PTH1R

Molecular functions related to Skeletal Dysplasias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 COL2A1 COMP MATN3

Sources for Skeletal Dysplasias

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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