MCID: OST015
MIFTS: 51

Osteochondrodysplasia

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Osteochondrodysplasia

MalaCards integrated aliases for Osteochondrodysplasia:

Name: Osteochondrodysplasia 12 29 6 15
Chondrodystrophy 12 76 53 55
Congenital Anomaly of Cartilage 12 73
Cartilage Development Disorder 12
Osteochondrodysplasia Syndrome 12
Mucopolysaccharidosis Iv 73
Osteochondrodysplasias 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2256
ICD10 33 Q78.9
ICD9CM 35 756.4
MeSH 44 D010009
SNOMED-CT 68 378007 67988000

Summaries for Osteochondrodysplasia

Disease Ontology : 12 A bone development disease that results in defective development of cartilage or bone.

MalaCards based summary : Osteochondrodysplasia, also known as chondrodystrophy, is related to skeletal dysplasias and smith-mccort dysplasia 1. An important gene associated with Osteochondrodysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Neural Crest Differentiation. The drugs Alendronate and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are cellular and cardiovascular system

Wikipedia : 76 Chondrodystrophy (literally, "cartilage maldevelopment") refers to a skeletal disorder caused by one of... more...

Related Diseases for Osteochondrodysplasia

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

(show top 50) (show all 294)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 33.3 COL2A1 FGFR3 PTH1R
2 smith-mccort dysplasia 1 32.3 DYM RAB33B
3 achondrogenesis 32.1 COL2A1 SLC26A2
4 achondroplasia 32.0 FGFR3 PTH1R SOX9
5 boomerang dysplasia 31.7 FLNB SLC26A2
6 blount's disease 31.6 PTH1R SLC26A2
7 brittle bone disorder 31.4 BGLAP COL1A1 COL1A2 COL2A1 FGFR3 PTH1R
8 dwarfism 30.5 DYM FGFR3 RNU4ATAC
9 dyggve-melchior-clausen disease 29.8 DYM RAB33B
10 achondrogenesis, type ia 29.7 COL2A1 SLC26A2
11 spondyloepiphyseal dysplasia with congenital joint dislocations 29.4 COL2A1 FGFR3 RNU4ATAC SLC26A2
12 osteogenesis imperfecta, type v 29.4 COL1A1 COL1A2 SP7
13 osteogenesis imperfecta, type iii 29.4 BGLAP COL1A1 COL1A2
14 osteogenesis imperfecta, type iv 29.4 COL1A1 COL1A2 SP7
15 high bone mass osteogenesis imperfecta 29.4 COL1A1 COL1A2
16 metaphyseal chondrodysplasia, jansen type 29.4 COL2A1 FGFR3 PTH1R PTHLH
17 osteogenesis imperfecta, type viii 29.3 COL1A1 COL1A2
18 osteogenesis imperfecta, type i 29.3 BGLAP COL1A1 COL1A2 FGFR3
19 osteogenesis imperfecta, type vii 29.2 COL1A1 COL1A2 PTH1R
20 osteogenesis imperfecta, type ii 29.1 ALPL COL1A1 COL1A2 FGFR3 SOX9
21 spondyloepiphyseal dysplasia congenita 29.0 COL1A1 COL1A2 COL2A1 FGFR3 SLC26A2
22 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.6
23 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.2
24 cantu syndrome 12.2
25 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.0
26 chondrodysplasia, blomstrand type 11.7
27 multiple epiphyseal dysplasia 11.7
28 faye-petersen-ward-carey syndrome 11.6
29 craniometaphyseal dysplasia, autosomal dominant 11.3
30 pseudoachondroplasia 11.3
31 diastrophic dysplasia 11.3
32 kniest dysplasia 11.3
33 leri-weill dyschondrosteosis 11.2
34 hypochondroplasia 11.2
35 thanatophoric dysplasia, type i 11.2
36 dyssegmental dysplasia, silverman-handmaker type 11.2
37 desbuquois dysplasia 1 11.2
38 schwartz-jampel syndrome, type 1 11.2
39 pycnodysostosis 11.2
40 pyknoachondrogenesis 11.2
41 pyle disease 11.2
42 acrocapitofemoral dysplasia 11.2
43 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.2
44 arthropathy, progressive pseudorheumatoid, of childhood 11.2
45 spondyloepimetaphyseal dysplasia, matrilin-3 related 11.2
46 fibrochondrogenesis 11.2
47 campomelic dysplasia 11.0
48 larsen syndrome 11.0
49 craniometaphyseal dysplasia, autosomal recessive 11.0
50 smith-mccort dysplasia 2 11.0

Graphical network of the top 20 diseases related to Osteochondrodysplasia:



Diseases related to Osteochondrodysplasia

Symptoms & Phenotypes for Osteochondrodysplasia

MGI Mouse Phenotypes related to Osteochondrodysplasia:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ABCC9 ALPL ANKH COL1A1 COL1A2 COL2A1
2 cardiovascular system MP:0005385 10.26 ABCC9 ALPL ANKH COL1A1 COL1A2 COL2A1
3 craniofacial MP:0005382 10.25 ALPL ANKH COL1A1 COL2A1 DYM FGFR3
4 behavior/neurological MP:0005386 10.24 ALPL ANKH COL1A1 COL1A2 COL2A1 DYM
5 growth/size/body region MP:0005378 10.24 ABCC9 ALPL ANKH COL1A1 COL1A2 COL2A1
6 homeostasis/metabolism MP:0005376 10.17 ABCC9 ALPL ANKH COL1A1 COL1A2 COL2A1
7 limbs/digits/tail MP:0005371 10.1 ALPL ANKH COL1A1 COL1A2 COL2A1 DYM
8 digestive/alimentary MP:0005381 10.06 ALPL COL1A1 COL2A1 FGFR3 PTH1R PTHLH
9 mortality/aging MP:0010768 10.06 ABCC9 ALPL ANKH COL1A1 COL1A2 COL2A1
10 adipose tissue MP:0005375 9.99 ALPL COL1A1 COL1A2 COL2A1 PTHLH SOX9
11 respiratory system MP:0005388 9.65 ALPL ANKH COL1A1 COL2A1 FGFR3 FLNB
12 skeleton MP:0005390 9.5 ALPL ANKH COL1A1 COL1A2 COL2A1 DYM

Drugs & Therapeutics for Osteochondrodysplasia

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

(show top 50) (show all 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4,Phase 2 66376-36-1, 121268-17-5 2088
2
Teriparatide Approved, Investigational Phase 4,Phase 2 52232-67-4 16133850
3
Pamidronate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 40391-99-9 4674
4
Methyclothiazide Approved Phase 4 135-07-9 4121
5
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
8 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Diphosphonates Phase 4,Phase 2,Phase 3,Phase 1
10 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Micronutrients Phase 4,Phase 3
12 Ergocalciferols Phase 4
13 Trace Elements Phase 4,Phase 3
14 Vitamins Phase 4,Phase 3,Phase 2
15 Vitamin D2 Phase 4
16 Calciferol Phase 4,Phase 2
17 Gentamicins Phase 4
18 Anti-Bacterial Agents Phase 4
19 Sodium Chloride Symporter Inhibitors Phase 4
20 diuretics Phase 4
21 Natriuretic Agents Phase 4,Phase 3,Phase 2
22 Vaccines Phase 4
23
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable 75607-67-9, 21679-14-1 30751
24
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
25
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
26
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
27
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 55-98-1 2478
28
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
29
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
30
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3 216503-57-0
31
Etidronic acid Approved Phase 2, Phase 3,Phase 3 7414-83-7, 2809-21-4 3305
32
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
33
Denosumab Approved Phase 3,Phase 2 615258-40-7
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
35
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
36 Dermatologic Agents Phase 2, Phase 3,Phase 1
37 Vitamin B9 Phase 2, Phase 3
38 Folic Acid Antagonists Phase 2, Phase 3
39 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1
40 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
41 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
42 Antilymphocyte Serum Phase 2, Phase 3
43 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
44 Cyclosporins Phase 2, Phase 3,Phase 1,Not Applicable
45 Vitamin B Complex Phase 2, Phase 3
46 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
48 Antifungal Agents Phase 2, Phase 3,Phase 1
49 Thymoglobulin Phase 2, Phase 3
50 Antimetabolites Phase 2, Phase 3,Phase 3

Interventional clinical trials:

(show top 50) (show all 158)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta Completed NCT02303873 Phase 4 Alendronate
2 Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta Completed NCT01713231 Phase 4
3 Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta Completed NCT00131469 Phase 4 Teriparatide (FORTEO)
4 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
5 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
6 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
7 Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid Recruiting NCT03735537 Phase 4 Teriparatide Pen Injector;Zoledronic Acid
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 BMN 110
20 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)
21 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
22 Effect of Risedronate on Bone Morbidity in Fibrous Dysplasia of Bone Unknown status NCT00445575 Phase 2, Phase 3 risedronate;placebo;risedronate;placebo
23 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
24 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
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 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
26 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
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 Zoledronic Acid
28 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
29 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
30 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
31 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
32 Open-label Extension Denosumab Study in Children and Young Adults With Osteogenesis Imperfecta Recruiting NCT03638128 Phase 3 Denosumab
33 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
34 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03197766 Phase 3 BMN 111;Placebo
35 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
36 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
37 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
38 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
39 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
40 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA Completed NCT00884949 Phase 1, Phase 2 BMN 110
41 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-treated Children Completed NCT01111019 Phase 2 Recombinant human growth hormone (Somatropin)
42 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
43 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
44 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
45 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
46 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
47 Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta? Completed NCT03208582 Phase 2 Risedronate Sodium
48 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
49 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
50 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid

Search NIH Clinical Center for Osteochondrodysplasia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Osteochondrodysplasia

Genetic tests related to Osteochondrodysplasia:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia 29 SLC26A2

Anatomical Context for Osteochondrodysplasia

MalaCards organs/tissues related to Osteochondrodysplasia:

41
Bone, Skin, Kidney

Publications for Osteochondrodysplasia

Articles related to Osteochondrodysplasia:

(show top 50) (show all 132)
# Title Authors Year
1
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. ( 29797497 )
2018
2
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study. ( 28315965 )
2017
3
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. ( 27063440 )
2016
4
Could a trace mineral deficiency be associated with congenital chondrodystrophy of unknown origin (CCUO) in beef cattle in Australia? ( 25939455 )
2016
5
Influence of chondrodystrophy and brachycephaly on geometry of the humerus in dogs. ( 27070343 )
2016
6
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. ( 26365339 )
2015
7
Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia. ( 26365740 )
2015
8
Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review. ( 21728924 )
2012
9
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A. ( 22940367 )
2012
10
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. ( 23300579 )
2012
11
Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21. ( 22517500 )
2012
12
Congenital chondrodystrophy of unknown origin in beef herds. ( 22633829 )
2012
13
Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat. ( 21851869 )
2011
14
The association between congenital chondrodystrophy of unknown origin (CCUO) in beef cattle and drought in south-eastern Australia. ( 20223538 )
2010
15
Mycoplasma iowae associated with chondrodystrophy in commercial turkeys. ( 20390542 )
2010
16
Risk factors for congenital chondrodystrophy of unknown origin in beef cattle herds in south-eastern Australia. ( 20638972 )
2010
17
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. ( 18339089 )
2008
18
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. ( 17164305 )
2007
19
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ( 18000903 )
2007
20
Osteochondrodysplasia in three Scottish Fold cats. ( 17679781 )
2007
21
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. ( 17009344 )
2006
22
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. ( 15562030 )
2005
23
Fryns syndrome with osteochondrodysplasia. ( 15793837 )
2005
24
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. ( 16086394 )
2005
25
Palliative irradiation of Scottish Fold osteochondrodysplasia. ( 15605854 )
2004
26
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. ( 15476249 )
2004
27
A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar kyphoscoliosis. ( 12763346 )
2003
28
Grebe-Quelce-Salgado chondrodystrophy: prenatal diagnosis of two new cases in unrelated families in Southern Brazil. ( 12407712 )
2002
29
Retinitis pigmentosa with osteochondrodysplasia in siblings. ( 11702989 )
2001
30
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (CantA_ syndrome): a new case with unusual radiological findings. ( 10817653 )
2000
31
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. ( 10818212 )
2000
32
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. ( 10664159 )
2000
33
Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ( 11050630 )
2000
34
Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery. ( 10408824 )
1999
35
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: CantA_ syndrome. ( 10398267 )
1999
36
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. ( 10523019 )
1999
37
Osteochondrodysplasia in Scottish Fold cats. ( 10078353 )
1999
38
Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty. ( 10202296 )
1999
39
An infant with Sussman syndrome: A rare unclassified chondrodystrophy. ( 27645189 )
1999
40
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. ( 9426272 )
1998
41
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. ( 9571276 )
1998
42
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs. ( 9856576 )
1998
43
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. ( 9056550 )
1997
44
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. ( 9415697 )
1997
45
Osteochondrodysplasia occurring in transgenic mice expressing interferon-gamma. ( 9381654 )
1997
46
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. ( 9024569 )
1997
47
Blomstrand lethal osteochondrodysplasia. ( 8723092 )
1996
48
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. ( 8957508 )
1996
49
A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. ( 7981898 )
1994
50
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. ( 8092197 )
1994

Variations for Osteochondrodysplasia

ClinVar genetic disease variations for Osteochondrodysplasia:

6 (show top 50) (show all 198)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh37 Chromosome 5, 149360880: 149360880
3 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
4 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
5 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
6 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
7 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
8 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh38 Chromosome 5, 149980613: 149980615
9 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
10 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
11 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh37 Chromosome 5, 149361221: 149361221
12 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh38 Chromosome 5, 149981658: 149981658
13 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
14 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
15 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
16 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
17 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
18 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
19 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
20 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
21 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
22 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
23 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
24 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
25 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
26 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
27 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
28 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
29 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
30 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
31 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
32 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
33 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
34 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
35 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
36 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
37 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
38 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
39 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
40 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
41 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
42 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
43 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
44 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
45 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
46 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
47 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846
48 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
49 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh37 Chromosome 5, 149363979: 149363979
50 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh38 Chromosome 5, 149984416: 149984416

Expression for Osteochondrodysplasia

Search GEO for disease gene expression data for Osteochondrodysplasia.

Pathways for Osteochondrodysplasia

GO Terms for Osteochondrodysplasia

Cellular components related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.62 ALPL COL1A1 COL1A2 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.56 BGLAP COL1A1 COL1A2 COL2A1
3 collagen trimer GO:0005581 9.33 COL1A1 COL1A2 COL2A1
4 inward rectifying potassium channel GO:0008282 8.96 ABCC9 KCNJ8
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

Biological processes related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.85 COL1A1 COL1A2 COL2A1 SOX9
2 osteoblast differentiation GO:0001649 9.77 ALPL BGLAP COL1A1 SHOX2 SP7
3 cartilage development GO:0051216 9.74 COL2A1 SOX9 TAPT1
4 bone mineralization GO:0030282 9.71 BGLAP FGFR3 PTH1R PTHLH
5 bone development GO:0060348 9.7 BGLAP COL2A1 DYM
6 collagen fibril organization GO:0030199 9.65 COL1A1 COL1A2 COL2A1
7 regulation of bone mineralization GO:0030500 9.64 ANKH BGLAP
8 tissue homeostasis GO:0001894 9.63 COL2A1 SOX9
9 cartilage condensation GO:0001502 9.63 COL2A1 SOX9
10 skeletal system morphogenesis GO:0048705 9.63 COL1A1 COL2A1 RAB33B
11 response to vitamin D GO:0033280 9.62 ALPL BGLAP
12 negative regulation of chondrocyte differentiation GO:0032331 9.62 PTHLH SOX9
13 chondrocyte development GO:0002063 9.61 SHOX2 SOX9
14 positive regulation of cartilage development GO:0061036 9.61 SOX9 TAPT1
15 osteoblast development GO:0002076 9.61 BGLAP PTH1R PTHLH
16 protein heterotrimerization GO:0070208 9.6 COL1A1 COL1A2
17 limb bud formation GO:0060174 9.59 COL2A1 SOX9
18 notochord development GO:0030903 9.58 COL2A1 SOX9
19 embryonic skeletal joint morphogenesis GO:0060272 9.58 COL2A1 SHOX2
20 skin morphogenesis GO:0043589 9.56 COL1A1 COL1A2
21 endochondral ossification GO:0001958 9.56 ALPL COL1A1 COL2A1 FGFR3
22 chondrocyte differentiation GO:0002062 9.55 COL2A1 FGFR3 PTH1R SHOX2 SOX9
23 otic vesicle development GO:0071599 9.54 COL2A1 SOX9
24 heart valve development GO:0003170 9.51 SHOX2 SOX9
25 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.5 COL1A1 COL2A1 SHOX2
26 ossification GO:0001503 9.5 BGLAP COL1A1 COL2A1 PTH1R SLC26A2 SOX9
27 anterior head development GO:0097065 9.49 COL2A1 SOX9
28 skeletal system development GO:0001501 9.36 ALPL ANKH BGLAP COL1A1 COL1A2 COL2A1

Molecular functions related to Osteochondrodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.33 COL1A1 COL1A2 COL2A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL1A1 COL1A2 COL2A1
3 platelet-derived growth factor binding GO:0048407 8.8 COL1A1 COL1A2 COL2A1

Sources for Osteochondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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