MCID: SKL017
MIFTS: 48

Skeletal Dysplasias

Categories: Rare diseases, Bone 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

Summaries for Skeletal Dysplasias

MalaCards based summary : Skeletal Dysplasias, also known as osteochondrodysplasias, is related to thanatophoric dysplasia, type i 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 Focal Adhesion and Degradation of the extracellular matrix. The drugs Teriparatide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are growth/size/body region and craniofacial

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 269)
# Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type i 33.4 COMP FGFR3 PTH1R
2 spondyloepiphyseal dysplasia with congenital joint dislocations 33.3 COL2A1 FGFR3 TRAPPC2
3 boomerang dysplasia 32.3 FLNA FLNB SLC26A2
4 brachyolmia 32.2 COL2A1 PAPSS2 TRPV4
5 otospondylomegaepiphyseal dysplasia, autosomal recessive 31.9 COL11A2 COL2A1
6 pseudoachondroplasia 31.5 COMP MATN3 SLC26A2
7 campomelic dysplasia 31.0 COL11A2 COL2A1 SOX9
8 metaphyseal chondrodysplasia, jansen type 30.8 COL2A1 FGFR3 PTH1R PTHLH TRPV4
9 brittle bone disorder 30.5 COL2A1 FGFR3 PTH1R
10 achondrogenesis 30.3 COL2A1 SLC26A2
11 osteochondrodysplasia 30.2 COL2A1 FGFR3 FLNA FLNB PTH1R PTHLH
12 pyle disease 30.0 COL2A1 PTH1R PTHLH
13 brachydactyly 29.7 COL2A1 COMP PTHLH TRPV4
14 spondyloepiphyseal dysplasia congenita 29.3 COL2A1 COMP FGFR3 FLNA SLC26A2
15 atelosteogenesis 29.1 COMP FGFR3 FLNA FLNB SLC26A2
16 achondroplasia 28.9 COMP FGFR3 NPPC PTH1R SOX9
17 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.4
18 platyspondylic lethal skeletal dysplasia, torrance type 12.4
19 microphthalmia/coloboma and skeletal dysplasia syndrome 12.2
20 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.2
21 cantu syndrome 12.1
22 greenberg dysplasia 12.0
23 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 12.0
24 mental retardation, skeletal dysplasia, and abducens palsy 12.0
25 skeletal dysplasia, san diego type 12.0
26 skeletal dysplasia-t cell immunodeficiency-developmental delay syndrome 11.9
27 short-limb skeletal dysplasia with severe combined immunodeficiency 11.9
28 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 11.9
29 osebold skeletal dysplasia/osteolysis syndrome 11.9
30 lethal short-limb skeletal dysplasia, al gazali type 11.9
31 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 11.9
32 congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome 11.9
33 skeletal dysplasia and progressive central nervous system degeneration, lethal 11.9
34 pierre robin syndrome skeletal dysplasia polydactyly 11.9
35 skeletal dysplasia orofacial anomalies 11.9
36 hirsutism, skeletal dysplasia, and mental retardation 11.9
37 skeletal dysplasia with delayed epiphyseal and carpal bone ossification 11.9
38 epimetaphyseal skeletal dysplasia 11.9
39 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 11.9
40 gurrieri syndrome 11.6
41 eiken syndrome 11.6
42 microcephalic osteodysplastic primordial dwarfism, type i 11.6
43 dental anomalies and short stature 11.6
44 gracile bone dysplasia 11.5
45 schwartz-jampel syndrome, type 1 11.5
46 chops syndrome 11.5
47 brachydactyly, mononen type 11.5
48 rhyns syndrome 11.4
49 battaglia-neri syndrome 11.4
50 acromicric dysplasia 11.4

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 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 SLC26A2 PTH1R SOX9 PTHLH FLNA CTSK
2 craniofacial MP:0005382 10.32 SLC26A2 SOX9 PTHLH CTSK COL11A2 COL2A1
3 behavior/neurological MP:0005386 10.29 PTH1R SOX9 TRAPPC2 PTHLH TRPV4 COMP
4 cellular MP:0005384 10.26 SLC26A2 SOX9 PTHLH COMP CTSK COL2A1
5 homeostasis/metabolism MP:0005376 10.25 PTH1R SOX9 PTHLH TRPV4 CTSK COL2A1
6 cardiovascular system MP:0005385 10.19 TRPV4 PTH1R SOX9 PTHLH COMP COL2A1
7 limbs/digits/tail MP:0005371 10.18 SLC26A2 SOX9 PTHLH CTSK COL2A1 FGFR3
8 digestive/alimentary MP:0005381 10.15 PTH1R SOX9 PTHLH FLNA CTSK COL2A1
9 immune system MP:0005387 10.14 PTH1R SOX9 PTHLH COMP CTSK COL2A1
10 mortality/aging MP:0010768 10.06 PTHLH SLC26A2 PTH1R SOX9 COL2A1 FGFR3
11 nervous system MP:0003631 10 PTH1R SOX9 PTHLH TRPV4 CTSK COL2A1
12 hearing/vestibular/ear MP:0005377 9.93 SOX9 TRPV4 COL11A2 COL2A1 FGFR3 HSPG2
13 respiratory system MP:0005388 9.85 PTH1R SOX9 PTHLH TRPV4 FLNA CTSK
14 skeleton MP:0005390 9.83 SLC26A2 PTH1R SOX9 PTHLH FLNA CTSK
15 vision/eye MP:0005391 9.23 PTH1R SOX9 PTHLH TRPV4 COL2A1 FGFR3

Drugs & Therapeutics for Skeletal Dysplasias

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

(show top 50) (show all 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
2
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
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
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
7
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
8 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
9 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
11 diuretics Phase 4
12 Micronutrients Phase 4,Phase 3
13 Natriuretic Agents Phase 4,Phase 3,Phase 2
14 Sodium Chloride Symporter Inhibitors Phase 4
15 Gentamicins Phase 4
16 Trace Elements Phase 4,Phase 3
17 Anti-Bacterial Agents Phase 4
18 Ergocalciferols Phase 4
19 Vitamins Phase 4,Phase 3,Phase 2
20 Vaccines Phase 4
21 Vitamin D2 Nutraceutical Phase 4
22 Calciferol Nutraceutical Phase 4
23
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
24
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3 216503-57-0
25
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable 21679-14-1, 75607-67-9 30751
26
Etidronic acid Approved Phase 2, Phase 3,Phase 3 7414-83-7, 2809-21-4 3305
27
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
28
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
29
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
30
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 55-98-1 2478
31
Denosumab Approved Phase 3,Phase 2 615258-40-7
32
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
33
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
35
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
36 Risedronate Sodium Phase 2, Phase 3,Phase 3 115436-72-1
37 calcium channel blockers Phase 2, Phase 3,Phase 3
38 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
39 Folic Acid Antagonists Phase 2, Phase 3
40 Cyclosporins Phase 2, Phase 3,Phase 1,Not Applicable
41 Dermatologic Agents Phase 2, Phase 3,Phase 1
42 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
43 Vitamin B Complex Phase 2, Phase 3
44 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
45 Antifungal Agents Phase 2, Phase 3,Phase 1
46 Antilymphocyte Serum Phase 2, Phase 3
47 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1
48 Antimetabolites Phase 2, Phase 3,Phase 3
49 Antiviral Agents Phase 2, Phase 3,Phase 3
50 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3

Interventional clinical trials:

(show top 50) (show all 139)
# 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 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
8 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
9 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
10 A Single Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00872794 Phase 4
11 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
12 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
13 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
14 A Multi-centre Study to Assess the Long-term Performance of the Summit™ Hip in Primary Total Hip Replacement Terminated NCT00208390 Phase 4
15 A Multi-centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00208377 Phase 4
16 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
17 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
18 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)
19 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
20 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
21 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
22 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
23 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
24 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
25 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
26 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
27 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
28 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
29 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
30 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
31 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
32 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
33 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
34 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
35 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
36 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-trea Completed NCT01111019 Phase 2 Recombinant human growth hormone (Somatropin)
37 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
38 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
39 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
40 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
41 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
42 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
43 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
44 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
45 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
46 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
47 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2
48 ACTIMMUNE in Intermediate Osteopetrosis Recruiting NCT02666768 Phase 2 Interferon gamma-1b
49 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 Phase 2 ACTIMMUNE
50 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Recruiting NCT03208582 Phase 2 Risedronate Sodium

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, Bone Marrow, Brain, Testes, T Cells, Heart, Fetal Lung

Publications for Skeletal Dysplasias

Articles related to Skeletal Dysplasias:

(show top 50) (show all 386)
# Title Authors Year
1
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating I^-catenin. ( 29095481 )
2018
2
Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities. ( 29409074 )
2018
3
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
4
Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn. ( 29967080 )
2018
5
Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. ( 29907962 )
2018
6
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. ( 29878396 )
2018
7
What Is New in Prenatal Skeletal Dysplasias? ( 29528710 )
2018
8
Early-Onset Spinal Deformity in Skeletal Dysplasias: A Multicenter Study of Growth-Friendly Systems. ( 29886923 )
2018
9
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. ( 28543917 )
2017
10
Skeletal Dysplasias: Growing Therapy for Growing Bones. ( 28321190 )
2017
11
Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know. ( 28808977 )
2017
12
Pelvic radiograph in skeletal dysplasias: An approach. ( 28744080 )
2017
13
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. ( 28652603 )
2017
14
Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study. ( 28888399 )
2017
15
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. ( 28738883 )
2017
16
A human case of SLC35A3-related skeletal dysplasia. ( 28777481 )
2017
17
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. ( 28148688 )
2017
18
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. ( 28321993 )
2017
19
Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. ( 28446799 )
2017
20
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. ( 28132690 )
2017
21
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. ( 28067412 )
2017
22
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. ( 28396765 )
2017
23
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
24
Best practices in peri-operative management of patients with skeletal dysplasias. ( 28763154 )
2017
25
Bone robusticity in two distinct skeletal dysplasias diverges from established patterns. ( 28186356 )
2017
26
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. ( 27904917 )
2017
27
Skeletal dysplasia: Respiratory management during infancy. ( 28947027 )
2017
28
Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review. ( 28224438 )
2017
29
Emerging targeted drug therapies in skeletal dysplasias. ( 27155200 )
2016
30
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. ( 27866314 )
2016
31
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. ( 27094867 )
2016
32
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. ( 26803617 )
2016
33
The potential of induced pluripotent stem cells as a tool to study skeletal dysplasias and cartilage-related pathologic conditions. ( 27919783 )
2016
34
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia. ( 27182040 )
2016
35
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. ( 27599773 )
2016
36
Skeletal dysplasia as the presenting feature of a congenital disorder of glycosylation. ( 27773000 )
2016
37
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement? ( 26866824 )
2016
38
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta. ( 27549894 )
2016
39
Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration. ( 28040117 )
2016
40
Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources. ( 27218215 )
2016
41
Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis. ( 27016925 )
2016
42
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma. ( 27433940 )
2016
43
A case series of peripheral nerve blocks in pediatrics and young adults with skeletal dysplasia. ( 27000417 )
2016
44
Late Sequel of Meningococcemia: Skeletal Dysplasia. ( 26960252 )
2016
45
Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14. ( 28029058 )
2016
46
Staged total knee arthroplasty for bilateral complex knee deformities from Kashin-Beck disease and skeletal dysplasia. ( 27923623 )
2016
47
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia. ( 26601923 )
2016
48
Normal Fetal Long Bone Length from Computed Tomography: Potential Value in the Prenatal Evaluation of Skeletal Dysplasias. ( 27070838 )
2016
49
Bilateral Total Knee Arthroplasty in a 15 Year Old With Skeletal Dysplasia and Open Physes. ( 27045485 )
2016
50
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016

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
12.42 COL11A2 COL2A1 COMP FLNA FLNB
2
Show member pathways
12.09 COL11A2 COL2A1 COMP CTSK HSPG2 MATN3
3
Show member pathways
11.67 COL2A1 COMP HSPG2
4 11.47 COL11A2 COL2A1 FGFR3 SOX9
5 10.83 COL2A1 FGFR3 PTH1R PTHLH SOX9

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 9.7 COL2A1 COMP CTSK HSPG2 NPPC POP1
2 focal adhesion GO:0005925 9.35 FGFR3 FLNA FLNB HSPG2 TRPV4
3 extracellular region GO:0005576 9.32 COL11A2 COL2A1 COMP CTSK FGFR3 FLNA

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.69 COL11A2 COL2A1 SOX9
2 collagen catabolic process GO:0030574 9.67 COL11A2 COL2A1 CTSK
3 extracellular matrix organization GO:0030198 9.65 COL2A1 COMP HSPG2 MATN3 SOX9
4 endochondral ossification GO:0001958 9.58 COL2A1 FGFR3
5 bone resorption GO:0045453 9.58 CTSK PTH1R
6 cartilage condensation GO:0001502 9.57 COL2A1 SOX9
7 osteoblast development GO:0002076 9.56 PTH1R PTHLH
8 negative regulation of chondrocyte differentiation GO:0032331 9.55 PTHLH SOX9
9 ossification GO:0001503 9.55 COL2A1 NPPC PTH1R SLC26A2 SOX9
10 limb bud formation GO:0060174 9.54 COL2A1 SOX9
11 bone mineralization GO:0030282 9.54 FGFR3 PTH1R PTHLH
12 notochord development GO:0030903 9.52 COL2A1 SOX9
13 tissue homeostasis GO:0001894 9.5 COL11A2 COL2A1 SOX9
14 otic vesicle development GO:0071599 9.48 COL2A1 SOX9
15 3-phosphoadenosine 5-phosphosulfate biosynthetic process GO:0050428 9.46 PAPSS2 SLC26A2
16 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 COL2A1 TRPV4
17 anterior head development GO:0097065 9.4 COL2A1 SOX9
18 chondrocyte differentiation GO:0002062 9.35 COL11A2 COL2A1 FGFR3 PTH1R SOX9
19 skeletal system development GO:0001501 9.32 COL11A2 COL2A1 COMP FGFR3 MATN3 PAPSS2

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 9.16 NPPC PTHLH
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL11A2 COL2A1
3 extracellular matrix structural constituent GO:0005201 8.92 COL11A2 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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