MCID: SKL017
MIFTS: 45

Skeletal Dysplasias malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Skeletal Dysplasias

Aliases & Descriptions for Skeletal Dysplasias:

Name: Skeletal Dysplasias 50
Osteochondrodysplasias 50 52 69

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 metatropic dysplasia. An important gene associated with Skeletal Dysplasias is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Focal Adhesion and Degradation of the extracellular matrix. The drugs Methyclothiazide and Alendronate have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and fetal lung, and related phenotypes are growth/size/body region and craniofacial

Wikipedia : 71 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 220)
id Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type i 32.0 FGFR3 NPPC PTH1R SOX9
2 metatropic dysplasia 31.7 COL2A1 PAPSS2 TRPV4
3 epiphyseal dysplasia, multiple, with myopia and deafness 31.3 COL2A1 COMP TRPV4
4 greenberg skeletal dysplasia 12.3
5 platyspondylic skeletal dysplasia, torrance type 12.3
6 skeletal dysplasia 12.2
7 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.1
8 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 11.9
9 skeletal dysplasia, san diego type 11.9
10 mental retardation, skeletal dysplasia, and abducens palsy 11.8
11 short-limb skeletal dysplasia with severe combined immunodeficiency 11.8
12 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 11.8
13 hirsutism, skeletal dysplasia, and mental retardation 11.8
14 epimetaphyseal skeletal dysplasia 11.8
15 nek9-related lethal skeletal dysplasia 11.8
16 pierre robin syndrome skeletal dysplasia polydactyly 11.7
17 skeletal dysplasia orofacial anomalies 11.7
18 camptodactyly joint contractures and facial skeletal dysplasia 11.7
19 lethal short limb skeletal dysplasia al gazali type 11.7
20 spondyloepiphyseal dysplasia with congenital joint dislocations 11.5
21 eiken syndrome 11.5
22 microcephalic osteodysplastic primordial dwarfism, type i 11.5
23 microphthalmia, syndromic 14 11.4
24 chops syndrome 11.4
25 schwartz-jampel syndrome, type 1 11.4
26 acromicric dysplasia 11.3
27 rhyns syndrome 11.2
28 gurrieri syndrome 11.2
29 short-rib thoracic dysplasia 9 with or without polydactyly 11.1
30 thanatophoric dysplasia, type ii 11.0
31 pacman dysplasia 11.0
32 atelosteogenesis, type iii 11.0
33 fountain syndrome 10.9
34 spondylometaphyseal dysplasia, kozlowski type 10.9
35 gracile bone dysplasia 10.9
36 fibrochondrogenesis 2 10.9
37 hip dysplasia, beukes type 10.9
38 otopalatodigital syndrome, type i 10.9
39 opsismodysplasia 10.9
40 brachydactyly, mononen type 10.9
41 leri-weill dyschondrosteosis 10.9
42 digital arthropathy-brachydactyly, familial 10.9
43 frontometaphyseal dysplasia 10.9
44 acrodysostosis 1, with or without hormone resistance 10.8
45 czech dysplasia 10.8
46 spondyloenchondrodysplasia with immune dysregulation 10.8
47 cartilage-hair hypoplasia 10.8
48 galactosialidosis 10.8
49 robinow syndrome, autosomal recessive 10.8
50 spondylo-megaepiphyseal-metaphyseal dysplasia 10.8

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:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 COL11A2 COL2A1 FGFR3 COMP FLNA CTSK
2 craniofacial MP:0005382 10.32 COL2A1 FGFR3 FLNA CTSK COL11A2 NPPC
3 behavior/neurological MP:0005386 10.28 COL2A1 FGFR3 COMP FLNA FLNB HSPG2
4 homeostasis/metabolism MP:0005376 10.25 CTSK COL2A1 FGFR3 COMP FLNA NPPC
5 limbs/digits/tail MP:0005371 10.18 COL2A1 FGFR3 COMP CTSK NPPC FLNB
6 digestive/alimentary MP:0005381 10.15 CTSK COL2A1 FGFR3 FLNA PAPSS2 HSPG2
7 cardiovascular system MP:0005385 10.13 COL2A1 COMP FLNA FLNB HSPG2 TRPV4
8 immune system MP:0005387 10.1 CTSK COL2A1 FGFR3 COMP FLNA MATN3
9 mortality/aging MP:0010768 10.06 COL2A1 FGFR3 NPPC FLNB PAPSS2 HSPG2
10 nervous system MP:0003631 9.96 CTSK COL2A1 FGFR3 FLNA NPPC FLNB
11 hearing/vestibular/ear MP:0005377 9.93 COL11A2 COL2A1 FGFR3 HSPG2 SOX9 TRPV4
12 respiratory system MP:0005388 9.85 COL2A1 FGFR3 FLNA CTSK FLNB HSPG2
13 skeleton MP:0005390 9.83 COL11A2 COL2A1 FGFR3 COMP FLNA CTSK
14 vision/eye MP:0005391 9.17 COL2A1 FGFR3 HSPG2 FLNA PTHLH SOX9

Drugs & Therapeutics for Skeletal Dysplasias

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

(show top 50) (show all 115)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyclothiazide Approved Phase 4 135-07-9 4121
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 40391-99-9 4674
4
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
5
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7 diuretics Phase 4
8 Natriuretic Agents Phase 4,Phase 2
9 Sodium Chloride Symporter Inhibitors Phase 4
10 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
11 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Antiviral Agents Phase 4,Phase 2,Phase 3
14 vitamin d Phase 4,Phase 2
15 interferons Phase 4,Phase 3,Phase 2
16 Gentamicins Phase 4
17 Trace Elements Phase 4,Phase 3
18 Ergocalciferols Phase 4
19 Anti-Bacterial Agents Phase 4
20 Vitamins Phase 4,Phase 3,Phase 2
21 Interferon-gamma Phase 4,Phase 3,Phase 2
22 Micronutrients Phase 4,Phase 3
23 Vaccines Phase 4
24 Vitamin D2 Nutraceutical Phase 4
25 Calciferol Nutraceutical Phase 4
26
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
27
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
28
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
29
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
30
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
31
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1 55-98-1 2478
32
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
33
Etidronic acid Approved Phase 2, Phase 3 7414-83-7, 2809-21-4 3305
34
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
35
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
36
Denosumab Approved Phase 3,Phase 2 615258-40-7
37
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
39
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
40 Risedronate Sodium Phase 2, Phase 3 115436-72-1
41 calcium channel blockers Phase 2, Phase 3
42 Alkylating Agents Phase 2, Phase 3, Phase 1
43 Folic Acid Antagonists Phase 2, Phase 3
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 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
48 Antifungal Agents Phase 2, Phase 3,Phase 1
49 Antilymphocyte Serum Phase 2, Phase 3
50 Antimetabolites Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 133)
id Name Status NCT ID Phase
1 A Randomised Single Centre Study to Compare the Long-Term Wear Characteristics of Marathon™ and Enduron™ Polyethylene Cup Liners in Primary Total Hip Replacement Unknown status NCT00208442 Phase 4
2 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4
3 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4
4 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
5 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4
6 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4
7 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
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 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3
20 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3
21 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3
22 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3
23 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
24 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3
25 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3
26 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3
27 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
28 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3
29 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3
30 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3
31 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3
32 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3
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
37 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA Completed NCT00884949 Phase 1, Phase 2
38 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2
39 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2
40 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2
41 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2
42 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2
43 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2
44 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2
45 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2
46 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2
47 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
48 PET Imaging of Phosphodiesterase-4 (PDE4) in Brain and Peripheral Organs of McCune-Albright Syndrome Recruiting NCT02743377 Phase 1, Phase 2
49 ACTIMMUNE in Intermediate Osteopetrosis Recruiting NCT02666768 Phase 2
50 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 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:

39
Bone, Heart, Fetal Lung, Thyroid, Lung, Eye

Publications for Skeletal Dysplasias

Articles related to Skeletal Dysplasias:

(show top 50) (show all 354)
id Title Authors Year
1
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. ( 28067412 )
2017
2
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
3
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. ( 27904917 )
2017
4
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. ( 28132690 )
2017
5
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. ( 28321993 )
2017
6
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
7
A case series of peripheral nerve blocks in pediatrics and young adults with skeletal dysplasia. ( 27000417 )
2016
8
Protein-losing enteropathy with entestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. ( 27214123 )
2016
9
Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources. ( 27218215 )
2016
10
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. ( 27866314 )
2016
11
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia. ( 27182040 )
2016
12
Late Sequel of Meningococcemia: Skeletal Dysplasia. ( 26960252 )
2016
13
Emerging targeted drug therapies in skeletal dysplasias. ( 27155200 )
2016
14
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. ( 26908619 )
2016
15
Bilateral Total Knee Arthroplasty in a 15 Year Old With Skeletal Dysplasia and Open Physes. ( 27045485 )
2016
16
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. ( 26803617 )
2016
17
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. ( 27094867 )
2016
18
The Radiograph of the Pelvis as a Window to Skeletal Dysplasias. ( 26821546 )
2016
19
Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports. ( 27057899 )
2016
20
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia. ( 26601923 )
2016
21
The potential of induced pluripotent stem cells as a tool to study skeletal dysplasias and cartilage-related pathologic conditions. ( 27919783 )
2016
22
Staged total knee arthroplasty for bilateral complex knee deformities from Kashin-Beck disease and skeletal dysplasia. ( 27923623 )
2016
23
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. ( 27599773 )
2016
24
Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis. ( 27016925 )
2016
25
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma. ( 27433940 )
2016
26
Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14. ( 28029058 )
2016
27
Skeletal dysplasia as the presenting feature of a congenital disorder of glycosylation. ( 27773000 )
2016
28
Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration. ( 28040117 )
2016
29
Normal Fetal Long Bone Length from Computed Tomography: Potential Value in the Prenatal Evaluation of Skeletal Dysplasias. ( 27070838 )
2016
30
Pelger-HuA<t anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. ( 27830109 )
2016
31
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
32
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
33
Advances in Skeletal Dysplasia Genetics. ( 25939055 )
2015
34
Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. ( 25931420 )
2015
35
A review of imaging protocols for suspected skeletal dysplasia and a proposal for standardisation. ( 26081673 )
2015
36
A newborn with severe skeletal dysplasia. ( 26307691 )
2015
37
Use of low dose computed tomography with 3D reconstructions for the prenatal evaluation of suspected skeletal dysplasia. ( 25739176 )
2015
38
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. ( 25966638 )
2015
39
Guidelines for genetic skeletal dysplasias for pediatricians. ( 26817005 )
2015
40
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. ( 26402641 )
2015
41
Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population. ( 26488291 )
2015
42
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. ( 26598328 )
2015
43
Skeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome. ( 26225150 )
2015
44
Skeletal dysplasias. ( 26042906 )
2015
45
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. ( 26365341 )
2015
46
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. ( 25893793 )
2015
47
Skeletal Dysplasias: An Overview. ( 26138847 )
2015
48
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. ( 26626311 )
2015
49
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? ( 25771764 )
2015
50
Significant clinical benefits of molecular studies in the skeletal dysplasias. ( 25691403 )
2015

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:

id Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.65 FGFR3 FLNA FLNB HSPG2 TRPV4
2 proteinaceous extracellular matrix GO:0005578 9.55 COL11A2 COL2A1 COMP HSPG2 MATN3
3 extracellular matrix GO:0031012 9.35 COL2A1 COMP FLNA FLNB HSPG2
4 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)
id 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 chondrocyte differentiation GO:0002062 9.55 COL11A2 COL2A1 FGFR3 PTH1R SOX9
7 osteoblast development GO:0002076 9.54 PTH1R PTHLH
8 negative regulation of chondrocyte differentiation GO:0032331 9.52 PTHLH SOX9
9 notochord development GO:0030903 9.51 COL2A1 SOX9
10 tissue homeostasis GO:0001894 9.5 COL11A2 COL2A1 SOX9
11 limb bud formation GO:0060174 9.49 COL2A1 SOX9
12 otic vesicle development GO:0071599 9.43 COL2A1 SOX9
13 ossification GO:0001503 9.43 COL11A2 COL2A1 NPPC PTH1R SLC26A2 SOX9
14 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.4 COL2A1 TRPV4
15 3-phosphoadenosine 5-phosphosulfate biosynthetic process GO:0050428 9.37 PAPSS2 SLC26A2
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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