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 49
Osteochondrodysplasias 49 51 69

Classifications:



External Ids:

ICD10 32 Q78.8

Summaries for Skeletal Dysplasias

MalaCards based summary : Skeletal Dysplasias, also known as osteochondrodysplasias, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and thanatophoric dysplasia, type i. 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 Alendronate and Pamidronate 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 : 72 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 270)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 33.1 COL2A1 FGFR3 TRAPPC2
2 thanatophoric dysplasia, type i 33.0 COMP FGFR3 PTH1R
3 boomerang dysplasia 32.3 FLNA FLNB SLC26A2
4 brachyolmia 31.9 COL2A1 PAPSS2 TRPV4
5 otospondylomegaepiphyseal dysplasia, autosomal recessive 31.6 COL11A2 COL2A1
6 osteochondrodysplasia 31.4 COL2A1 FGFR3 FLNA FLNB PTH1R PTHLH
7 pseudoachondroplasia 31.4 COMP MATN3 SLC26A2
8 campomelic dysplasia 31.2 COL11A2 COL2A1 SOX9
9 metaphyseal chondrodysplasia, jansen type 30.9 COL2A1 FGFR3 PTH1R PTHLH TRPV4
10 brittle bone disorder 30.2 COL2A1 FGFR3 PTH1R
11 achondrogenesis 30.0 COL2A1 SLC26A2
12 brachydactyly 29.9 COL2A1 PTHLH TRPV4
13 pyle disease 29.8 COL2A1 PTH1R PTHLH
14 atelosteogenesis 29.3 COMP FGFR3 FLNA FLNB SLC26A2
15 spondyloepiphyseal dysplasia congenita 29.3 COL2A1 COMP FGFR3 FLNA SLC26A2
16 achondroplasia 29.3 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 greenberg dysplasia 12.1
22 cantu syndrome 12.1
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 short-limb skeletal dysplasia with severe combined immunodeficiency 11.9
27 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 11.9
28 epimetaphyseal skeletal dysplasia 11.9
29 osebold skeletal dysplasia/osteolysis syndrome 11.9
30 hirsutism, skeletal dysplasia, and mental retardation 11.9
31 lethal short-limb skeletal dysplasia, al gazali type 11.9
32 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 11.9
33 skeletal dysplasia and progressive central nervous system degeneration, lethal 11.9
34 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 11.9
35 skeletal dysplasia with delayed epiphyseal and carpal bone ossification 11.9
36 pierre robin syndrome skeletal dysplasia polydactyly 11.9
37 skeletal dysplasia orofacial anomalies 11.9
38 gurrieri syndrome 11.7
39 eiken syndrome 11.6
40 microcephalic osteodysplastic primordial dwarfism, type i 11.6
41 schwartz-jampel syndrome, type 1 11.5
42 chops syndrome 11.5
43 gracile bone dysplasia 11.5
44 rhyns syndrome 11.4
45 acromicric dysplasia 11.4
46 battaglia-neri syndrome 11.4
47 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
48 pacman dysplasia 11.2
49 atelosteogenesis, type iii 11.2
50 verloes bourguignon syndrome 11.2

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:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 FGFR3 COMP FLNA CTSK COL11A2 COL2A1
2 craniofacial MP:0005382 10.31 FGFR3 FLNA CTSK COL11A2 COL2A1 SLC26A2
3 behavior/neurological MP:0005386 10.28 COL2A1 FGFR3 COMP FLNA TRPV4 PTHLH
4 cellular MP:0005384 10.25 COL2A1 FGFR3 COMP CTSK PTHLH SLC26A2
5 homeostasis/metabolism MP:0005376 10.22 COL2A1 FGFR3 COMP FLNA CTSK TRPV4
6 cardiovascular system MP:0005385 10.18 COL2A1 COMP TRPV4 PTHLH PTH1R SOX9
7 digestive/alimentary MP:0005381 10.13 COL2A1 FGFR3 FLNA CTSK PTHLH SOX9
8 limbs/digits/tail MP:0005371 10.13 FGFR3 COMP CTSK COL2A1 SLC26A2 SOX9
9 immune system MP:0005387 10.11 COL2A1 FGFR3 COMP CTSK PTHLH SOX9
10 nervous system MP:0003631 10 COL2A1 FGFR3 CTSK TRPV4 PTHLH PTH1R
11 hearing/vestibular/ear MP:0005377 9.91 COL2A1 FGFR3 COL11A2 TRPV4 SOX9 HSPG2
12 respiratory system MP:0005388 9.85 COL2A1 FGFR3 FLNA CTSK SOX9 PTHLH
13 skeleton MP:0005390 9.83 FGFR3 COMP FLNA CTSK COL11A2 COL2A1
14 vision/eye MP:0005391 9.23 COL2A1 FGFR3 TRPV4 PTHLH PTH1R SOX9

Drugs & Therapeutics for Skeletal Dysplasias

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

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
2
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1 40391-99-9 4674
3
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
4
Methyclothiazide Approved Phase 4 135-07-9 4121
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
6
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 10883523 5280795 6221
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 Antiviral Agents Phase 4,Phase 2,Phase 3
12 interferons Phase 4,Phase 3,Phase 2
13 diuretics Phase 4
14 Micronutrients Phase 4,Phase 3
15 Sodium Chloride Symporter Inhibitors Phase 4
16 Natriuretic Agents Phase 4,Phase 3,Phase 2
17 Gentamicins Phase 4
18 Trace Elements Phase 4,Phase 3
19 Vitamins Phase 4,Phase 3,Phase 2
20 Anti-Bacterial Agents Phase 4
21 Ergocalciferols Phase 4
22 Interferon-gamma Phase 4,Phase 3,Phase 2
23 Vaccines Phase 4
24 Vitamin D2 Nutraceutical Phase 4
25 Calciferol Nutraceutical Phase 4
26
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
27
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
28
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
29
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
30
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1 55-98-1 2478
31
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
32
Etidronic acid Approved Phase 2, Phase 3 2809-21-4, 7414-83-7 3305
33
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
34
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
35
Denosumab Approved Phase 3,Phase 2 615258-40-7
36
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
38
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
39 Risedronate Sodium Phase 2, Phase 3 115436-72-1
40 calcium channel blockers Phase 2, Phase 3
41 Alkylating Agents Phase 2, Phase 3, Phase 1
42 Folic Acid Antagonists Phase 2, Phase 3
43 Cyclosporins Phase 2, Phase 3,Phase 1
44 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
45 Dermatologic Agents Phase 2, Phase 3,Phase 1
46 Vitamin B Complex Phase 2, Phase 3
47 Antifungal Agents Phase 2, Phase 3,Phase 1
48 Antilymphocyte Serum Phase 2, Phase 3
49 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
50 Antimetabolites Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 132)

# Name Status NCT ID Phase Drugs
1 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4 Actimmune Registry
2 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
3 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
4 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
5 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
6 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
7 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
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 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
31 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
32 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
33 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
34 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
35 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
36 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
37 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)
38 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
39 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
40 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
41 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
42 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
43 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
44 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
45 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
46 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
47 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
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:

38
Bone, Bone Marrow, Brain, Testes, T Cells, Heart, Fetal Lung

Publications for Skeletal Dysplasias

Articles related to Skeletal Dysplasias:

(show top 50) (show all 375)
# Title Authors Year
1
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
2
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating I^-catenin. ( 29095481 )
2018
3
Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities. ( 29409074 )
2018
4
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. ( 28652603 )
2017
5
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. ( 28738883 )
2017
6
Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know. ( 28808977 )
2017
7
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
8
Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study. ( 28888399 )
2017
9
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. ( 28321993 )
2017
10
Pelvic radiograph in skeletal dysplasias: An approach. ( 28744080 )
2017
11
Bone robusticity in two distinct skeletal dysplasias diverges from established patterns. ( 28186356 )
2017
12
A human case of SLC35A3-related skeletal dysplasia. ( 28777481 )
2017
13
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. ( 28132690 )
2017
14
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
15
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. ( 28148688 )
2017
16
Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review. ( 28224438 )
2017
17
Skeletal Dysplasias: Growing Therapy for Growing Bones. ( 28321190 )
2017
18
Best practices in peri-operative management of patients with skeletal dysplasias. ( 28763154 )
2017
19
Skeletal dysplasia: Respiratory management during infancy. ( 28947027 )
2017
20
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. ( 27904917 )
2017
21
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. ( 28543917 )
2017
22
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. ( 28396765 )
2017
23
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. ( 28067412 )
2017
24
Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration. ( 28040117 )
2016
25
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
26
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia. ( 27182040 )
2016
27
Bilateral Total Knee Arthroplasty in a 15 Year Old With Skeletal Dysplasia and Open Physes. ( 27045485 )
2016
28
Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14. ( 28029058 )
2016
29
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
30
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. ( 27094867 )
2016
31
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. ( 26803617 )
2016
32
Pelger-HuA<t anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. ( 27830109 )
2016
33
The Radiograph of the Pelvis as a Window to Skeletal Dysplasias. ( 26821546 )
2016
34
Staged total knee arthroplasty for bilateral complex knee deformities from Kashin-Beck disease and skeletal dysplasia. ( 27923623 )
2016
35
Emerging targeted drug therapies in skeletal dysplasias. ( 27155200 )
2016
36
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
37
Normal Fetal Long Bone Length from Computed Tomography: Potential Value in the Prenatal Evaluation of Skeletal Dysplasias. ( 27070838 )
2016
38
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma. ( 27433940 )
2016
39
The potential of induced pluripotent stem cells as a tool to study skeletal dysplasias and cartilage-related pathologic conditions. ( 27919783 )
2016
40
Skeletal dysplasia as the presenting feature of a congenital disorder of glycosylation. ( 27773000 )
2016
41
Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources. ( 27218215 )
2016
42
Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports. ( 27057899 )
2016
43
A case series of peripheral nerve blocks in pediatrics and young adults with skeletal dysplasia. ( 27000417 )
2016
44
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. ( 27599773 )
2016
45
Protein-losing enteropathy with entestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. ( 27214123 )
2016
46
Late Sequel of Meningococcemia: Skeletal Dysplasia. ( 26960252 )
2016
47
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. ( 27866314 )
2016
48
Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis. ( 27016925 )
2016
49
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia. ( 26601923 )
2016
50
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. ( 26908619 )
2016

Variations for Skeletal Dysplasias

Expression for Skeletal Dysplasias

Search GEO for disease gene expression data for Skeletal Dysplasias.

Pathways for Skeletal Dysplasias

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 9.87 COL2A1 COMP CTSK HSPG2 NPPC POP1
2 focal adhesion GO:0005925 9.65 FGFR3 FLNA FLNB HSPG2 TRPV4
3 extracellular matrix GO:0031012 9.55 COL2A1 COMP FLNA FLNB HSPG2
4 proteinaceous extracellular matrix GO:0005578 9.35 COL11A2 COL2A1 COMP HSPG2 MATN3
5 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 16)
# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.65 COL11A2 COL2A1 SOX9
2 extracellular matrix organization GO:0030198 9.65 COL2A1 COMP HSPG2 MATN3 SOX9
3 collagen catabolic process GO:0030574 9.63 COL11A2 COL2A1 CTSK
4 bone resorption GO:0045453 9.56 CTSK PTH1R
5 cartilage condensation GO:0001502 9.55 COL2A1 SOX9
6 ossification GO:0001503 9.55 COL2A1 NPPC PTH1R SLC26A2 SOX9
7 negative regulation of chondrocyte differentiation GO:0032331 9.54 PTHLH SOX9
8 osteoblast development GO:0002076 9.52 PTH1R PTHLH
9 limb bud formation GO:0060174 9.51 COL2A1 SOX9
10 tissue homeostasis GO:0001894 9.5 COL11A2 COL2A1 SOX9
11 notochord development GO:0030903 9.49 COL2A1 SOX9
12 otic vesicle development GO:0071599 9.43 COL2A1 SOX9
13 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.4 COL2A1 TRPV4
14 3-phosphoadenosine 5-phosphosulfate biosynthetic process GO:0050428 9.37 PAPSS2 SLC26A2
15 chondrocyte differentiation GO:0002062 9.35 COL11A2 COL2A1 FGFR3 PTH1R SOX9
16 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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