MCID: SKL017
MIFTS: 40

Skeletal Dysplasias

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Skeletal Dysplasias

MalaCards integrated aliases for Skeletal Dysplasias:

Name: Skeletal Dysplasias 52
Osteochondrodysplasias 52 54 71

Classifications:



External Ids:

UMLS 71 C0029422

Summaries for Skeletal Dysplasias

MalaCards based summary : Skeletal Dysplasias, also known as osteochondrodysplasias, is related to platyspondylic lethal skeletal dysplasia, torrance type and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Skeletal Dysplasias is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. The drugs Vaccines and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 74 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo")... 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 746)
# Related Disease Score Top Affiliating Genes
1 platyspondylic lethal skeletal dysplasia, torrance type 34.0 MATN3 COMP COL2A1
2 spondyloepiphyseal dysplasia with congenital joint dislocations 33.0 TRPV4 FGFR3 COMP COL2A1
3 brachyolmia 32.6 TRPV4 COL2A1
4 metatropic dysplasia 32.4 TRPV4 COL2A1
5 metachondromatosis 32.3 PTH1R COL2A1
6 metaphyseal chondrodysplasia, jansen type 32.3 PTH1R FGFR3
7 thanatophoric dysplasia, type i 32.2 PTH1R NPPC FGFR3 COMP COL2A1
8 achondroplasia, severe, with developmental delay and acanthosis nigricans 32.2 NPPC FGFR3
9 otospondylomegaepiphyseal dysplasia, autosomal recessive 32.1 COMP COL2A1
10 epiphyseal dysplasia, multiple, 1 32.1 MATN3 COMP
11 acromesomelic dysplasia, maroteaux type 32.1 NPPC FGFR3
12 larsen syndrome 31.9 FLNA COL2A1
13 dyssegmental dysplasia, silverman-handmaker type 31.9 HSPG2 COL2A1
14 diastrophic dysplasia 31.9 MATN3 COMP COL2A1
15 pseudoachondroplasia 31.9 MATN3 COMP COL2A1
16 epiphyseal dysplasia, multiple, 5 31.7 MATN3 COMP
17 epiphyseal dysplasia, multiple, 2 31.6 MATN3 COMP
18 epiphyseal dysplasia, multiple, 4 31.6 MATN3 COMP
19 spondyloepimetaphyseal dysplasia, matrilin-3 related 31.6 TRPV4 MATN3 COMP COL2A1
20 hypochondroplasia 31.6 NPPC FGFR3 COMP COL2A1
21 achondroplasia 31.3 PTH1R NPPC FGFR3 COMP COL2A1
22 dwarfism 31.0 TRPV4 FGFR3
23 brittle bone disorder 30.9 PTH1R FGFR3 COL2A1
24 type ii collagen disorders 30.6 TRPV4 COL2A1
25 achondrogenesis 30.4 MATN3 COMP COL2A1
26 metaphyseal dysplasia 30.3 PTH1R MATN3 COL2A1
27 hypochondrogenesis 30.1 MATN3 COL2A1
28 spondyloepiphyseal dysplasia congenita 30.1 MATN3 COMP COL2A1
29 cartilage disease 30.1 COMP COL2A1
30 brachydactyly 30.0 TRPV4 FGFR3 COMP COL2A1
31 odontochondrodysplasia 29.9 TRPV4 PTH1R NPPC MATN3 HSPG2 FLNA
32 exophthalmos 29.9 FLNA FGFR3
33 arthropathy 29.9 TRPV4 COMP COL2A1
34 multiple epiphyseal dysplasia due to collagen 9 anomaly 29.8 MATN3 COMP
35 achondrogenesis, type ii 29.7 MATN3 COMP COL2A1
36 multiple epiphyseal dysplasia, autosomal dominant 29.7 MATN3 COMP
37 acromesomelic dysplasia 29.6 NPPC FGFR3 COL2A1
38 enchondromatosis, multiple, ollier type 29.6 PTH1R FGFR3 COL2A1
39 multiple epiphyseal dysplasia 29.3 PTH1R MATN3 FGFR3 COMP COL2A1
40 exostosis 29.3 HSPG2 COL2A1
41 collagen disease 29.2 HSPG2 COL2A1
42 scoliosis 29.1 TRPV4 HSPG2 FLNA FGFR3 COMP COL2A1
43 osteoarthritis 29.1 MATN3 COMP COL2A1
44 stickler syndrome 29.0 MATN3 COL2A1
45 bone disease 28.7 PTH1R MATN3 FLNA FGFR3 COMP COL2A1
46 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.8
47 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.7
48 mental retardation, skeletal dysplasia, and abducens palsy 12.6
49 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 12.6
50 microphthalmia/coloboma and skeletal dysplasia syndrome 12.6

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 COL2A1 COMP FGFR3 FLNA HSPG2 IFT81
2 cardiovascular system MP:0005385 9.98 COL2A1 COMP FLNA HSPG2 IFT81 PTH1R
3 growth/size/body region MP:0005378 9.97 COL2A1 COMP FGFR3 FLNA HSPG2 IFT81
4 craniofacial MP:0005382 9.88 COL2A1 FGFR3 FLNA HSPG2 NPPC PTH1R
5 limbs/digits/tail MP:0005371 9.8 COL2A1 COMP FGFR3 HSPG2 MATN3 NPPC
6 digestive/alimentary MP:0005381 9.77 COL2A1 FGFR3 FLNA HSPG2 PTH1R
7 respiratory system MP:0005388 9.63 COL2A1 FGFR3 FLNA HSPG2 PTH1R TRPV4
8 skeleton MP:0005390 9.56 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
9 vision/eye MP:0005391 9.17 COL2A1 FGFR3 FLNA HSPG2 IFT81 PTH1R

Drugs & Therapeutics for Skeletal Dysplasias

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
3
Losartan Approved Phase 2 114798-26-4 3961
4
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
5 Psychotropic Drugs Phase 2
6 Histone Deacetylase Inhibitors Phase 2
7 Anticonvulsants Phase 2
8 Neurotransmitter Agents Phase 2
9 Angiotensin II Type 1 Receptor Blockers Phase 2
10 Angiotensinogen Phase 2
11 Angiotensin Receptor Antagonists Phase 2
12 Antihypertensive Agents Phase 2
13 Giapreza Phase 2
14 Anti-Arrhythmia Agents Phase 2
15 Natriuretic Peptide, C-Type Phase 2
16 Pharmaceutical Solutions

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Active, not recruiting NCT02383797 Phase 4
2 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
3 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Completed NCT03197766 Phase 3 BMN 111;Placebo
4 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
5 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03424018 Phase 3 BMN 111
6 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
7 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
8 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia, Age 0 to < 60 Months Enrolling by invitation NCT03583697 Phase 2 BMN 111;Placebo
9 A Phase 2 Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03989947 Phase 2 Active BMN 111: Daily subcutaneous injection of 15 ug/kg of BMN 111
10 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
11 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
12 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
13 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
14 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
15 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
16 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
17 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
18 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
19 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
20 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
21 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069
22 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
23 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
24 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779
25 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
26 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
27 An Expanded Access Study of the Feasibility of Using the CliniMACS® Device for CD34+ Cell Selection and T Cell Depletion for Graft-versus-Host Disease Prophylaxis in Alternative Donor Stem Cell Transplant Recipients Available NCT01200017
28 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
29 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Enrolling by invitation NCT03494829
30 Identification and Characterization of Bone-related Genetic Variants in Families Enrolling by invitation NCT02762318
31 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
32 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
33 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Skeletal Dysplasias

Genetic Tests for Skeletal Dysplasias

Anatomical Context for Skeletal Dysplasias

MalaCards organs/tissues related to Skeletal Dysplasias:

40
Bone, Bone Marrow, Brain, T Cells, Lung, Fetal Lung, Spinal Cord

Publications for Skeletal Dysplasias

Articles related to Skeletal Dysplasias:

(show top 50) (show all 1099)
# Title Authors PMID Year
1
Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China. 61
32360156 2020
2
Morphometric study of the primary ossification center of the frontal squama in the human fetus. 61
32025797 2020
3
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 61
31988067 2020
4
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases. 61
32552261 2020
5
The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane. 61
32443528 2020
6
Osteoclast-derived exosomal let-7a-5p targets Smad2 to promote the hypertrophic differentiation of chondrocytes. 61
32374679 2020
7
Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain. 61
32470698 2020
8
Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features. 61
32401097 2020
9
Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach. 61
32486376 2020
10
FGF23-Related Hypophosphataemic Bone Disease. 61
32236867 2020
11
Skeletal Dysplasias Caused by Sulfation Defects. 61
32295296 2020
12
Clinical and molecular description of 16 families with heterozygous IHH variants. 61
32311039 2020
13
Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications. 61
32386881 2020
14
Is height important for quality of life in children with skeletal dysplasias? 61
31811945 2020
15
Fetal skeletal dysplasias: a new way to look at them. 61
32336826 2020
16
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias. 61
32227640 2020
17
Fetal magnetic resonance imaging of skeletal dysplasias. 61
31776601 2020
18
Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report. 61
31808622 2020
19
Mutation Analysis of COL1A1 and COL1A2 in Fetuses with Osteogenesis Imperfecta Type II/III. 61
25633413 2020
20
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia. 61
32071555 2020
21
New perspectives on the treatment of skeletal dysplasia. 61
32166011 2020
22
Blood pressure in adults with short stature skeletal dysplasias. 61
31729121 2020
23
Xylosyltransferase-deficient human HEK293 cells show a strongly reduced proliferation capacity and viability. 61
31677793 2020
24
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. 61
32328030 2020
25
Results of growth-friendly management of early-onset scoliosis in children with and without skeletal dysplasias: a matched comparison. 61
31787003 2019
26
Bone dysplasias in 1.6 million births in Argentina. 61
30572171 2019
27
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. 61
31836586 2019
28
A framework for the radiologic diagnosis of skeletal dysplasias and syndromes as revealed by molecular genetics. 61
31686164 2019
29
A child with a novel ACAN missense variant mimicking a septic arthritis. 61
31747937 2019
30
Assessing the effect of physeal biopsy on angular deformity in a rabbit model. 61
31651751 2019
31
Schmid Metaphyseal Chondrodysplasia 61
31633898 2019
32
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. 61
30696995 2019
33
TransCon CNP, a Sustained-Release C-Type Natriuretic Peptide Prodrug, a Potentially Safe and Efficacious New Therapeutic Modality for the Treatment of Comorbidities Associated with Fibroblast Growth Factor Receptor 3-Related Skeletal Dysplasias. 61
31235532 2019
34
Two cases of skeletal dysplasia from New Kingdom (c. 1400-1050 BCE) Tombos, Sudan. 61
31377579 2019
35
Suitability and limitations of mesenchymal stem cells to elucidate human bone illness. 61
31616536 2019
36
A sonographic approach to the prenatal diagnosis of skeletal dysplasias. 61
31173381 2019
37
Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses. 61
31049649 2019
38
Metaphyseal dysplasia, Spahr type: a mimicker of rickets. 61
31413057 2019
39
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. 61
31763177 2019
40
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. 61
31041856 2019
41
Historical contingency shapes adaptive radiation in Antarctic fishes. 61
31182814 2019
42
Prevalence of mental health conditions and pain in adults with skeletal dysplasia. 61
30637564 2019
43
Limb lengthening and deformity correction in children with abnormal bone. 61
30987742 2019
44
Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis. 61
30610483 2019
45
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 61
31191204 2019
46
Quantitative anatomy of the ulna's shaft primary ossification center in the human fetus. 61
30382328 2019
47
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease. 61
30803154 2019
48
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia. 61
30693671 2019
49
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. 61
30408610 2019
50
Morphometric study of the primary ossification center of the fibular shaft in the human fetus. 61
30542927 2019

Variations for Skeletal Dysplasias

Expression for Skeletal Dysplasias

Search GEO for disease gene expression data for Skeletal Dysplasias.

Pathways for Skeletal Dysplasias

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

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

GO Terms for Skeletal Dysplasias

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

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

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.67 MATN3 HSPG2 COMP COL2A1
2 cartilage development GO:0051216 9.58 MATN3 COMP COL2A1
3 collagen fibril organization GO:0030199 9.52 COMP COL2A1
4 platelet aggregation GO:0070527 9.51 FLNA COMP
5 bone morphogenesis GO:0060349 9.49 FGFR3 COMP
6 endochondral ossification GO:0001958 9.48 FGFR3 COL2A1
7 chondrocyte proliferation GO:0035988 9.46 FGFR3 COMP
8 endochondral bone growth GO:0003416 9.43 FGFR3 COMP
9 chondrocyte differentiation GO:0002062 9.43 PTH1R FGFR3 COL2A1
10 bone mineralization GO:0030282 9.33 PTH1R FGFR3 COMP
11 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.32 TRPV4 COL2A1
12 ossification GO:0001503 9.26 PTH1R NPPC COMP COL2A1
13 skeletal system development GO:0001501 9.02 PTH1R MATN3 FGFR3 COMP COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 MATN3 COMP COL2A1
2 proteoglycan binding GO:0043394 8.62 COMP COL2A1

Sources for Skeletal Dysplasias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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