MCID: SKL014
MIFTS: 46

Skeletal Dysplasia

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Skeletal Dysplasia

MalaCards integrated aliases for Skeletal Dysplasia:

Name: Skeletal Dysplasia 24 29 52 69
Osteochondrodysplasias 69

Classifications:



Summaries for Skeletal Dysplasia

MalaCards based summary : Skeletal Dysplasia, also known as osteochondrodysplasias, is related to thanatophoric dysplasia, type i and epiphyseal dysplasia, multiple, 1. An important gene associated with Skeletal Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Alendronate and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are Decreased IL-13 protein expression and behavior/neurological

Wikipedia : 72 Osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development... more...

Related Diseases for Skeletal Dysplasia

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

(show top 50) (show all 237)
id Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type i 32.0 FGFR2 FGFR3 SHOX
2 epiphyseal dysplasia, multiple, 1 30.4 ACAN COMP SLC26A2
3 heart disease 30.1 FLNA TRPV4
4 crouzon syndrome with acanthosis nigricans 29.3 COMP FGFR2 FGFR3
5 hypochondroplasia 28.3 ACAN COMP FGFR2 FGFR3 SHOX
6 greenberg skeletal dysplasia 12.3
7 platyspondylic skeletal dysplasia, torrance type 12.3
8 skeletal dysplasias 12.2
9 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.1
10 microphthalmia/coloboma and skeletal dysplasia syndrome 12.1
11 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 11.9
12 skeletal dysplasia, san diego type 11.9
13 short-limb skeletal dysplasia with severe combined immunodeficiency 11.8
14 mental retardation, skeletal dysplasia, and abducens palsy 11.8
15 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 11.8
16 hirsutism, skeletal dysplasia, and mental retardation 11.8
17 epimetaphyseal skeletal dysplasia 11.8
18 lethal short limb skeletal dysplasia al gazali type 11.7
19 pierre robin syndrome skeletal dysplasia polydactyly 11.7
20 skeletal dysplasia orofacial anomalies 11.7
21 gurrieri syndrome 11.5
22 spondyloepiphyseal dysplasia with congenital joint dislocations 11.5
23 microcephalic osteodysplastic primordial dwarfism, type i 11.5
24 eiken syndrome 11.5
25 schwartz-jampel syndrome, type 1 11.4
26 chops syndrome 11.4
27 gracile bone dysplasia 11.4
28 boomerang dysplasia 11.3
29 acromicric dysplasia 11.3
30 battaglia-neri syndrome 11.3
31 rhyns syndrome 11.2
32 short-rib thoracic dysplasia 9 with or without polydactyly 11.1
33 atelosteogenesis, type iii 11.1
34 pacman dysplasia 11.1
35 otopalatodigital syndrome, type i 11.0
36 fountain syndrome 11.0
37 brachyolmia 10.9
38 acrocapitofemoral dysplasia 10.9
39 thanatophoric dysplasia, type ii 10.9
40 campomelic dysplasia 10.9
41 dysosteosclerosis 10.9
42 fibrochondrogenesis 2 10.9
43 opsismodysplasia 10.9
44 otopalatodigital syndrome, type ii 10.9
45 hip dysplasia, beukes type 10.9
46 spondylometaphyseal dysplasia, kozlowski type 10.9
47 lethal congenital contracture syndrome 10 10.9
48 brachydactyly, mononen type 10.9
49 wolcott-rallison syndrome 10.8
50 czech dysplasia 10.8

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



Diseases related to Skeletal Dysplasia

Symptoms & Phenotypes for Skeletal Dysplasia

GenomeRNAi Phenotypes related to Skeletal Dysplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased IL-13 protein expression GR00219-A 8.62 FGFR2 CSGALNACT1

MGI Mouse Phenotypes related to Skeletal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 COL1A2 FLNA COL2A1 LBR COMP CSGALNACT1
2 growth/size/body region MP:0005378 9.91 FGFR3 COL1A2 FLNA COL2A1 LBR COMP
3 craniofacial MP:0005382 9.87 FLNA COL2A1 LBR SLC26A2 CSGALNACT1 FGFR2
4 limbs/digits/tail MP:0005371 9.76 COL2A1 LBR COMP SLC26A2 CSGALNACT1 FGFR2
5 respiratory system MP:0005388 9.43 FLNA COL2A1 LBR TRPV4 FGFR2 FGFR3
6 skeleton MP:0005390 9.28 COL1A2 FLNA COL2A1 LBR COMP SLC26A2

Drugs & Therapeutics for Skeletal Dysplasia

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

(show top 50) (show all 120)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 2 121268-17-5, 66376-36-1 2088
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1 40391-99-9 4674
4
Methyclothiazide Approved Phase 4 135-07-9 4121
5
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Antiviral Agents Phase 4,Phase 2,Phase 3
10 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
12 Interferon-gamma Phase 4,Phase 3,Phase 2
13 interferons Phase 4,Phase 3,Phase 2
14 Ergocalciferols Phase 4
15 Micronutrients Phase 4,Phase 3
16 Trace Elements Phase 4,Phase 3
17 Vitamins Phase 4,Phase 3,Phase 2
18 Anti-Bacterial Agents Phase 4
19 Gentamicins Phase 4
20 diuretics Phase 4
21 Natriuretic Agents Phase 4,Phase 3,Phase 2
22 Sodium Chloride Symporter Inhibitors Phase 4
23 Vaccines Phase 4
24 Calciferol Nutraceutical Phase 4
25 Vitamin D2 Nutraceutical Phase 4
26
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1 55-98-1 2478
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
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
30
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
31
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
32
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
33
Etidronic acid Approved Phase 2, Phase 3 7414-83-7, 2809-21-4 3305
34
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
35
Denosumab Approved Phase 3,Phase 2 615258-40-7
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
37
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
38
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
39 Alkylating Agents Phase 2, Phase 3, Phase 1
40 Antifungal Agents Phase 2, Phase 3,Phase 1
41 Antilymphocyte Serum Phase 2, Phase 3
42 Antimetabolites Phase 2, Phase 3
43 Antimetabolites, Antineoplastic Phase 2, Phase 3
44 Antirheumatic Agents Phase 2, Phase 3, Phase 1
45 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
46 Cyclosporins Phase 2, Phase 3,Phase 1
47 Dermatologic Agents Phase 2, Phase 3,Phase 1
48 Folic Acid Antagonists Phase 2, Phase 3
49 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
50 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 127)

id 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 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 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
40 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
41 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
42 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
43 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
44 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg
45 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
46 ACTIMMUNE in Intermediate Osteopetrosis Recruiting NCT02666768 Phase 2 Interferon gamma-1b
47 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 Phase 2 ACTIMMUNE
48 An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Recruiting NCT03216486 Phase 2 BPS804
49 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Recruiting NCT03208582 Phase 2 Risedronate Sodium
50 A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804 Recruiting NCT03118570 Phase 2 BPS804;Placebo IV Infusion 5% Dextrose

Search NIH Clinical Center for Skeletal Dysplasia

Genetic Tests for Skeletal Dysplasia

Genetic tests related to Skeletal Dysplasia:

id Genetic test Affiliating Genes
1 Skeletal Dysplasia 29 24

Anatomical Context for Skeletal Dysplasia

MalaCards organs/tissues related to Skeletal Dysplasia:

39
Bone, Bone Marrow, Brain, Testes, T Cells, Heart, Fetal Lung

Publications for Skeletal Dysplasia

Articles related to Skeletal Dysplasia:

(show top 50) (show all 369)
id Title Authors Year
1
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
2
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. ( 28132690 )
2017
3
Best practices in peri-operative management of patients with skeletal dysplasias. ( 28763154 )
2017
4
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
5
A human case of SLC35A3-related skeletal dysplasia. ( 28777481 )
2017
6
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. ( 28396765 )
2017
7
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. ( 28738883 )
2017
8
Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review. ( 28224438 )
2017
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
Bone robusticity in two distinct skeletal dysplasias diverges from established patterns. ( 28186356 )
2017
11
Overlapping genetic pathways in the skeletal dysplasias of a middle woodland individual: A case study. ( 28888399 )
2017
12
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality. ( 27904917 )
2017
13
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. ( 28148688 )
2017
14
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. ( 28067412 )
2017
15
Skeletal dysplasia: Respiratory management during infancy. ( 28947027 )
2017
16
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. ( 28652603 )
2017
17
Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns. ( 28321993 )
2017
18
Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know. ( 28808977 )
2017
19
Skeletal Dysplasias: Growing Therapy for Growing Bones. ( 28321190 )
2017
20
Pelvic radiograph in skeletal dysplasias: An approach. ( 28744080 )
2017
21
Pelger-HuA<t anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. ( 27830109 )
2016
22
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
23
Emerging targeted drug therapies in skeletal dysplasias. ( 27155200 )
2016
24
Normal Fetal Long Bone Length from Computed Tomography: Potential Value in the Prenatal Evaluation of Skeletal Dysplasias. ( 27070838 )
2016
25
Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis. ( 27016925 )
2016
26
The Radiograph of the Pelvis as a Window to Skeletal Dysplasias. ( 26821546 )
2016
27
Protein-losing enteropathy with entestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. ( 27214123 )
2016
28
Staged total knee arthroplasty for bilateral complex knee deformities from Kashin-Beck disease and skeletal dysplasia. ( 27923623 )
2016
29
Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports. ( 27057899 )
2016
30
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. ( 26908619 )
2016
31
Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14. ( 28029058 )
2016
32
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia. ( 26601923 )
2016
33
The potential of induced pluripotent stem cells as a tool to study skeletal dysplasias and cartilage-related pathologic conditions. ( 27919783 )
2016
34
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
35
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. ( 26803617 )
2016
36
Late Sequel of Meningococcemia: Skeletal Dysplasia. ( 26960252 )
2016
37
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma. ( 27433940 )
2016
38
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. ( 27599773 )
2016
39
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
40
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia. ( 27182040 )
2016
41
Skeletal dysplasia as the presenting feature of a congenital disorder of glycosylation. ( 27773000 )
2016
42
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. ( 27866314 )
2016
43
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. ( 27094867 )
2016
44
A case series of peripheral nerve blocks in pediatrics and young adults with skeletal dysplasia. ( 27000417 )
2016
45
Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration. ( 28040117 )
2016
46
Bilateral Total Knee Arthroplasty in a 15 Year Old With Skeletal Dysplasia and Open Physes. ( 27045485 )
2016
47
Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources. ( 27218215 )
2016
48
Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line. ( 26545783 )
2015
49
Mesenchymal Stem Cells And C-Type Natriuretic Peptide Signaling: A Proposal Of A New Treatment Approach For Skeletal Dysplasias. ( 25643123 )
2015
50
Non-synonymous FGD3 Variant as Positional Candidate for Disproportional Tall Stature Accounting for a Carcass Weight QTL (CW-3) and Skeletal Dysplasia in Japanese Black Cattle. ( 26306008 )
2015

Variations for Skeletal Dysplasia

ClinVar genetic disease variations for Skeletal Dysplasia:

6 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1847G> A (p.Arg616Gln) single nucleotide variant Pathogenic rs121912632 GRCh37 Chromosome 12, 110230212: 110230212
2 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
3 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500
4 TRPV4 NM_021625.4(TRPV4): c.998A> G (p.Asp333Gly) single nucleotide variant Pathogenic rs121912634 GRCh37 Chromosome 12, 110236573: 110236573
5 TRPV4 NM_021625.4(TRPV4): c.2146G> T (p.Ala716Ser) single nucleotide variant Pathogenic rs121912635 GRCh37 Chromosome 12, 110226267: 110226267
6 TRPV4 NM_021625.4(TRPV4): c.991A> T (p.Ile331Phe) single nucleotide variant Pathogenic rs121912636 GRCh37 Chromosome 12, 110236580: 110236580
7 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
8 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
9 TRPV4 NM_021625.4(TRPV4): c.2395C> T (p.Pro799Ser) single nucleotide variant Pathogenic rs267607147 GRCh37 Chromosome 12, 110222184: 110222184
10 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
11 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Pathogenic rs267607148 GRCh37 Chromosome 12, 110238444: 110238444
12 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190
13 TRPV4 NM_021625.4(TRPV4): c.547G> A (p.Glu183Lys) single nucleotide variant Pathogenic rs387906324 GRCh37 Chromosome 12, 110246113: 110246113
14 TRPV4 NM_021625.4(TRPV4): c.1805A> G (p.Tyr602Cys) single nucleotide variant Pathogenic rs267607150 GRCh37 Chromosome 12, 110230476: 110230476
15 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
16 TRPV4 NM_021625.4(TRPV4): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs397514473 GRCh37 Chromosome 12, 110252336: 110252336
17 TRPV4 NM_021625.4(TRPV4): c.590A> G (p.Lys197Arg) single nucleotide variant Pathogenic rs387906903 GRCh37 Chromosome 12, 110240918: 110240918
18 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
19 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 GRCh37 Chromosome 12, 110252370: 110252370
20 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 GRCh37 Chromosome 12, 110224632: 110224632
21 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 GRCh37 Chromosome 12, 110238450: 110238450
22 TRPV4 NM_021625.4(TRPV4): c.1024G> T (p.Val342Phe) single nucleotide variant Pathogenic rs515726152 GRCh37 Chromosome 12, 110236547: 110236547
23 TRPV4 NM_021625.4(TRPV4): c.1219A> G (p.Lys407Glu) single nucleotide variant Pathogenic rs515726153 GRCh38 Chromosome 12, 109796638: 109796638
24 TRPV4 NM_021625.4(TRPV4): c.1412_1414delTCT (p.Phe471del) deletion Pathogenic rs515726154 GRCh37 Chromosome 12, 110232211: 110232213
25 TRPV4 NM_021625.4(TRPV4): c.1566_1568dupCCT (p.Leu523_Phe524insLeu) duplication Pathogenic rs515726155 GRCh38 Chromosome 12, 109793946: 109793948
26 TRPV4 NM_021625.4(TRPV4): c.1772A> G (p.Tyr591Cys) single nucleotide variant Pathogenic rs515726157 GRCh37 Chromosome 12, 110230509: 110230509
27 TRPV4 NM_021625.4(TRPV4): c.1774T> C (p.Phe592Leu) single nucleotide variant Pathogenic rs515726158 GRCh38 Chromosome 12, 109792702: 109792702
28 TRPV4 NM_021625.4(TRPV4): c.1787T> C (p.Leu596Pro) single nucleotide variant Pathogenic rs515726159 GRCh37 Chromosome 12, 110230494: 110230494
29 TRPV4 NM_021625.4(TRPV4): c.1798G> T (p.Gly600Trp) single nucleotide variant Pathogenic rs515726160 GRCh38 Chromosome 12, 109792678: 109792678
30 TRPV4 NM_021625.4(TRPV4): c.1812C> G (p.Ile604Met) single nucleotide variant Pathogenic rs515726161 GRCh37 Chromosome 12, 110230469: 110230469
31 TRPV4 NM_021625.4(TRPV4): c.1851C> A (p.Phe617Leu) single nucleotide variant Pathogenic rs515726162 GRCh38 Chromosome 12, 109792403: 109792403
32 TRPV4 NM_021625.4(TRPV4): c.1853T> C (p.Leu618Pro) single nucleotide variant Pathogenic rs515726163 GRCh37 Chromosome 12, 110230206: 110230206
33 TRPV4 NM_021625.4(TRPV4): c.1875G> A (p.Met625Ile) single nucleotide variant Pathogenic rs515726164 GRCh37 Chromosome 12, 110230184: 110230184
34 TRPV4 NM_021625.4(TRPV4): c.2125C> A (p.Leu709Met) single nucleotide variant Pathogenic rs116571438 GRCh38 Chromosome 12, 109788483: 109788483
35 TRPV4 NM_021625.4(TRPV4): c.2330G> A (p.Cys777Tyr) single nucleotide variant Pathogenic rs515726165 GRCh38 Chromosome 12, 109786716: 109786716
36 TRPV4 NM_021625.4(TRPV4): c.2396_2412del17 (p.Pro799Leufs) deletion Pathogenic rs515726166 GRCh37 Chromosome 12, 110222167: 110222183
37 TRPV4 NM_021625.4(TRPV4): c.597G> C (p.Leu199Phe) single nucleotide variant Pathogenic rs515726167 GRCh37 Chromosome 12, 110240911: 110240911
38 TRPV4 NM_021625.4(TRPV4): c.717G> C (p.Gln239His) single nucleotide variant Pathogenic rs515726169 GRCh38 Chromosome 12, 109800754: 109800754
39 TRPV4 NM_021625.4(TRPV4): c.883A> G (p.Thr295Ala) single nucleotide variant Pathogenic rs515726171 GRCh37 Chromosome 12, 110236688: 110236688
40 TRPV4 NM_021625.4(TRPV4): c.992T> C (p.Ile331Thr) single nucleotide variant Pathogenic rs515726172 GRCh37 Chromosome 12, 110236579: 110236579
41 COL1A2 NM_000089.3(COL1A2): c.2549G> A (p.Gly850Glu) single nucleotide variant Pathogenic rs1057518967 GRCh37 Chromosome 7, 94052414: 94052414

Expression for Skeletal Dysplasia

Search GEO for disease gene expression data for Skeletal Dysplasia.

Pathways for Skeletal Dysplasia

GO Terms for Skeletal Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.26 ACAN COL1A2 COL2A1 COMP
2 extracellular matrix GO:0031012 9.1 ACAN COL1A2 COL2A1 COMP FGFR2 FLNA

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.63 COL2A1 PAM16 SLC26A2
2 bone morphogenesis GO:0060349 9.49 FGFR2 FGFR3
3 proteoglycan biosynthetic process GO:0030166 9.48 ACAN CSGALNACT1
4 limb bud formation GO:0060174 9.43 COL2A1 FGFR2
5 collagen fibril organization GO:0030199 9.43 ACAN COL1A2 COL2A1
6 positive regulation of phospholipase activity GO:0010518 9.4 FGFR2 FGFR3
7 endochondral bone growth GO:0003416 9.37 FGFR2 FGFR3
8 extracellular matrix organization GO:0030198 9.35 ACAN COL1A2 COL2A1 COMP CSGALNACT1
9 endochondral ossification GO:0001958 9.33 COL2A1 CSGALNACT1 FGFR3
10 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.32 COL2A1 TRPV4
11 skeletal system development GO:0001501 9.1 ACAN COL1A2 COL2A1 COMP FGFR3 SHOX

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

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.56 FGFR2 FGFR3 IARS2 TRPV4
2 fibroblast growth factor binding GO:0017134 9.32 FGFR2 FGFR3
3 platelet-derived growth factor binding GO:0048407 9.16 COL1A2 COL2A1
4 fibroblast growth factor-activated receptor activity GO:0005007 8.96 FGFR2 FGFR3
5 extracellular matrix structural constituent GO:0005201 8.92 ACAN COL1A2 COL2A1 COMP

Sources for Skeletal Dysplasia

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....