MCID: SKL017
MIFTS: 41

Skeletal Dysplasias

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Skeletal Dysplasias

MalaCards integrated aliases for Skeletal Dysplasias:

Name: Skeletal Dysplasias 53
Osteochondrodysplasias 53 55 72

Classifications:



External Ids:

UMLS 72 C0029422

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 Degradation of the extracellular matrix and ECM-receptor interaction. The drugs Vaccines and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are growth/size/body region and behavior/neurological

Wikipedia : 75 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 752)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 33.6 FGFR3 COL2A1
2 thanatophoric dysplasia, type i 33.2 PTH1R FGFR3 COMP
3 brachyolmia 32.9 TRPV4 COL2A1
4 spondyloepimetaphyseal dysplasia, matrilin-3 related 32.4 MATN3 COL2A1
5 diastrophic dysplasia 32.4 COMP COL2A1
6 hypochondroplasia 32.3 NPPC FGFR3
7 blount's disease 32.2 TRPV4 PTH1R
8 acromesomelic dysplasia, maroteaux type 32.2 NPPC FGFR3
9 metaphyseal chondrodysplasia, jansen type 31.9 TRPV4 PTH1R FGFR3 COL2A1
10 epiphyseal dysplasia, multiple, 3 31.9 MATN3 COMP
11 epiphyseal dysplasia, multiple, 1 31.9 MATN3 COMP
12 epiphyseal dysplasia, multiple, 5 31.9 MATN3 COMP
13 achondroplasia 31.6 PTH1R NPPC FGFR3 COMP
14 pseudoachondroplasia 31.5 MATN3 COMP
15 brittle bone disorder 31.0 PTH1R FGFR3 COL2A1
16 atelosteogenesis 30.7 FLNA FGFR3
17 scoliosis 30.5 TRPV4 FGFR3 COL2A1
18 cartilage disease 30.4 COMP COL2A1
19 spondyloepiphyseal dysplasia congenita 30.4 FGFR3 COMP COL2A1
20 pyle disease 30.2 PTH1R POP1 COL2A1
21 bone disease 30.1 PTH1R FGFR3 COL2A1
22 brachydactyly 30.1 TRPV4 FGFR3 COMP COL2A1
23 exophthalmos 30.1 FLNA FGFR3
24 achondrogenesis, type ii 30.1 TRPV4 COMP COL2A1
25 multiple epiphyseal dysplasia 30.1 MATN3 COMP COL2A1
26 hypochondrogenesis 30.1 TRPV4 COMP COL2A1
27 metaphyseal chondrodysplasia, schmid type 29.8 MATN3 COMP
28 kniest dysplasia 29.6 TRPV4 HSPG2 COMP COL2A1
29 osteoarthritis 29.4 MATN3 COMP COL2A1
30 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.8
31 platyspondylic lethal skeletal dysplasia, torrance type 12.7
32 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.7
33 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 12.6
34 microphthalmia/coloboma and skeletal dysplasia syndrome 12.5
35 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.5
36 mental retardation, skeletal dysplasia, and abducens palsy 12.4
37 short-limb skeletal dysplasia with severe combined immunodeficiency 12.4
38 greenberg dysplasia 12.4
39 cantu syndrome 12.4
40 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases 12.3
41 lethal short-limb skeletal dysplasia, al gazali type 12.3
42 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.3
43 skeletal dysplasia, san diego type 12.3
44 hirsutism, skeletal dysplasia, and mental retardation 12.3
45 skeletal dysplasia and progressive central nervous system degeneration, lethal 12.3
46 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 12.3
47 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 12.2
48 skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome 12.2
49 osebold skeletal dysplasia/osteolysis syndrome 12.2
50 obsolete: hypertrichotic osteochondrodysplasia 12.2

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
2 behavior/neurological MP:0005386 10.05 COL2A1 COMP FGFR3 FLNA HSPG2 PTH1R
3 homeostasis/metabolism MP:0005376 10.01 COL2A1 COMP FGFR3 FLNA HSPG2 NPPC
4 craniofacial MP:0005382 9.97 COL2A1 FGFR3 FLNA HSPG2 NPPC PTH1R
5 immune system MP:0005387 9.91 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
6 digestive/alimentary MP:0005381 9.88 COL2A1 FGFR3 FLNA HSPG2 PTH1R
7 limbs/digits/tail MP:0005371 9.87 COL2A1 COMP FGFR3 HSPG2 MATN3 NPPC
8 nervous system MP:0003631 9.8 COL2A1 FGFR3 FLNA HSPG2 NPPC PTH1R
9 hearing/vestibular/ear MP:0005377 9.73 COL2A1 FGFR3 HSPG2 TRPV4
10 respiratory system MP:0005388 9.63 COL2A1 FGFR3 FLNA HSPG2 PTH1R TRPV4
11 skeleton MP:0005390 9.56 COL2A1 COMP FGFR3 FLNA HSPG2 MATN3
12 vision/eye MP:0005391 9.1 COL2A1 FGFR3 FLNA HSPG2 PTH1R TRPV4

Drugs & Therapeutics for Skeletal Dysplasias

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Natriuretic Agents Phase 3
3 Natriuretic Peptide, C-Type Phase 3
4
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
5
Losartan Approved Phase 2 114798-26-4 3961
6
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
7 Neurotransmitter Agents Phase 2
8 Tranquilizing Agents Phase 2
9 Central Nervous System Depressants Phase 2
10 GABA Agents Phase 2
11 Antimanic Agents Phase 2
12 Histone Deacetylase Inhibitors Phase 2
13 Psychotropic Drugs Phase 2
14 Anticonvulsants Phase 2
15 Angiotensinogen Phase 2
16 Angiotensin Receptor Antagonists Phase 2
17 Angiotensin II Type 1 Receptor Blockers Phase 2
18 Giapreza Phase 2
19 Anti-Arrhythmia Agents Phase 2
20 Antihypertensive Agents Phase 2
21 Pharmaceutical Solutions
22 Antibodies
23 Immunologic Factors
24 Immunoglobulins
25 Autoantibodies

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Unknown status NCT02383797 Phase 4
2 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
3 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
4 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03197766 Phase 3 BMN 111;Placebo
5 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Enrolling by invitation 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 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Unknown status NCT01920828
12 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
13 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
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 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
19 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
20 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT01457456
21 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
22 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
23 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069
24 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Recruiting NCT03872713
25 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Recruiting NCT03548779
26 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]
27 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
28 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
29 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
30 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Enrolling by invitation NCT03494829
31 Identification and Characterization of Bone-related Genetic Variants in Families Enrolling by invitation NCT02762318
32 Accurate Diagnosis of Diabetes for Appropriate Management Not yet recruiting NCT03988764
33 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
34 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
35 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:

41
Bone, Brain, Bone Marrow, T Cells, Lung, Fetal Lung, Spinal Cord

Publications for Skeletal Dysplasias

Articles related to Skeletal Dysplasias:

(show top 50) (show all 1065)
# Title Authors PMID Year
1
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. 38
31235532 2019
2
Two cases of skeletal dysplasia from New Kingdom (c. 1400-1050 BCE) Tombos, Sudan. 38
31377579 2019
3
Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses. 38
31049649 2019
4
Metaphyseal dysplasia, Spahr type: a mimicker of rickets. 38
31413057 2019
5
A sonographic approach to the prenatal diagnosis of skeletal dysplasias. 38
31173381 2019
6
Historical contingency shapes adaptive radiation in Antarctic fishes. 38
31182814 2019
7
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. 38
31041856 2019
8
Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis. 38
30610483 2019
9
Limb lengthening and deformity correction in children with abnormal bone. 38
30987742 2019
10
Prevalence of mental health conditions and pain in adults with skeletal dysplasia. 38
30637564 2019
11
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 38
31191204 2019
12
Quantitative anatomy of the ulna's shaft primary ossification center in the human fetus. 38
30382328 2019
13
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease. 38
30803154 2019
14
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia. 38
30693671 2019
15
Morphometric study of the primary ossification center of the fibular shaft in the human fetus. 38
30542927 2019
16
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. 38
30408610 2019
17
[Wnt Signaling and Skeletal Dysplasias.] 38
30814377 2019
18
Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing. 38
31218223 2019
19
Morphology and development of a novel murine skeletal dysplasia. 38
31308998 2019
20
Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice. 38
30865697 2019
21
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. 38
30230566 2019
22
Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis. 38
30543055 2019
23
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. 38
30284005 2019
24
Achondroplasia: a comprehensive clinical review. 38
30606190 2019
25
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. 38
30696995 2019
26
Bone dysplasias in 1.6 million births in Argentina. 38
30572171 2018
27
Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones. 38
30984522 2018
28
Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. 38
30237475 2018
29
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. 38
30228365 2018
30
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. 38
29595812 2018
31
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review. 38
30077757 2018
32
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. 38
30080953 2018
33
Cartilage oligomeric matrix protein: COMPopathies and beyond. 38
29530484 2018
34
Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report. 38
30303846 2018
35
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy. 38
29982567 2018
36
The mechanical impact of col11a2 loss on joints; col11a2 mutant zebrafish show changes to joint development and function, which leads to early-onset osteoarthritis. 38
30249781 2018
37
Insights and Implications of Genome-Wide Association Studies of Height. 38
29982553 2018
38
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. 38
30231296 2018
39
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. 38
30113773 2018
40
Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina. 38
30016033 2018
41
Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. 38
29907962 2018
42
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information. 38
29878396 2018
43
Early-Onset Spinal Deformity in Skeletal Dysplasias: A Multicenter Study of Growth-Friendly Systems. 38
29886923 2018
44
Epiphyseal growth plate architecture is unaffected by early postnatal activation of the expression of R992C collagen II mutant. 38
29660427 2018
45
Chondrodysplasia Punctata with Severe Airway Stenosis. 38
30111935 2018
46
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. 38
30160829 2018
47
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 38
29566257 2018
48
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. 38
29464738 2018
49
Human Genetics of Sclerosing Bone Disorders. 38
29656376 2018
50
Cervical Spine Injury From Unrecognized Craniocervical Instability in Severe Pierre Robin Sequence Associated With Skeletal Dysplasia. 38
29489401 2018

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 11.08 MATN3 COMP
4 10.81 COMP COL2A1
5 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 collagen-containing extracellular matrix GO:0062023 9.5 HSPG2 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 extracellular matrix GO:0031012 8.8 MATN3 COMP COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.5 PTH1R NPPC COL2A1
2 extracellular matrix organization GO:0030198 9.46 MATN3 HSPG2 COMP COL2A1
3 actin cytoskeleton reorganization GO:0031532 9.43 TRPV4 FLNA
4 bone mineralization GO:0030282 9.4 PTH1R FGFR3
5 endochondral ossification GO:0001958 9.37 FGFR3 COL2A1
6 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.26 TRPV4 COL2A1
7 chondrocyte differentiation GO:0002062 9.13 PTH1R FGFR3 COL2A1
8 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 8.8 MATN3 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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