MCID: OST015
MIFTS: 53

Osteochondrodysplasia

Categories: Rare diseases, Bone 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

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 smith-mccort dysplasia 1 and achondrogenesis. 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, bone marrow and brain, and related phenotypes are craniofacial and cellular

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

Related Diseases for Osteochondrodysplasia

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

(show top 50) (show all 280)
# Related Disease Score Top Affiliating Genes
1 smith-mccort dysplasia 1 32.7 DYM RAB33B
2 achondrogenesis 32.0 COL2A1 SLC26A2
3 achondroplasia 32.0 FGFR3 PTH1R SOX9
4 blount's disease 31.9 PTH1R SLC26A2
5 boomerang dysplasia 31.7 FLNA FLNB SLC26A2
6 brittle bone disorder 31.6 BGLAP COL2A1 FGFR3 PTH1R
7 pyle disease 31.1 COL2A1 PTH1R PTHLH
8 achondrogenesis, type ia 30.0 COL2A1 SLC26A2
9 osteogenesis imperfecta, type ii 29.6 ALPL FGFR3 SOX9
10 skeletal dysplasias 29.5 COL2A1 FGFR3 FLNA FLNB PTH1R PTHLH
11 achondrogenesis, type ib 29.3 FLNB SLC26A2
12 spondyloepiphyseal dysplasia with congenital joint dislocations 29.0 COL2A1 FGFR3 RNU4ATAC
13 spondyloepiphyseal dysplasia congenita 28.9 COL2A1 FGFR3 FLNA SLC26A2
14 metaphyseal chondrodysplasia, jansen type 28.2 COL2A1 FGFR3 PTH1R PTHLH
15 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.4
16 cantu syndrome 12.1
17 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 11.9
18 chondrodysplasia, blomstrand type 11.6
19 multiple epiphyseal dysplasia 11.5
20 faye-petersen-ward-carey syndrome 11.4
21 craniometaphyseal dysplasia, autosomal dominant 11.2
22 pseudoachondroplasia 11.2
23 diastrophic dysplasia 11.2
24 kniest dysplasia 11.2
25 leri-weill dyschondrosteosis 11.1
26 thanatophoric dysplasia, type i 11.1
27 dyssegmental dysplasia, silverman-handmaker type 11.1
28 desbuquois dysplasia 1 11.1
29 schwartz-jampel syndrome, type 1 11.1
30 pycnodysostosis 11.1
31 pyknoachondrogenesis 11.1
32 hypochondroplasia 11.0
33 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.0
34 arthropathy, progressive pseudorheumatoid, of childhood 11.0
35 spondyloepimetaphyseal dysplasia, matrilin-3 related 11.0
36 fibrochondrogenesis 11.0
37 campomelic dysplasia 10.9
38 larsen syndrome 10.9
39 craniometaphyseal dysplasia, autosomal recessive 10.9
40 smith-mccort dysplasia 2 10.9
41 acromegaloid facial appearance syndrome 10.7
42 cleidocranial dysplasia 10.7
43 greenberg dysplasia 10.7
44 mesomelia-synostoses syndrome 10.7
45 brachyolmia 10.7
46 desbuquois dysplasia 10.7
47 otospondylomegaepiphyseal dysplasia 10.7
48 hypochondrogenesis 10.7
49 acromesomelic dysplasia 10.7
50 albright's hereditary osteodystrophy 10.7

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 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.25 TAPT1 ALPL DYM FGFR3 ANKH FLNA
2 cellular MP:0005384 10.23 SOX9 SP7 ABCC9 COL2A1 DYM ALPL
3 cardiovascular system MP:0005385 10.22 SOX9 ABCC9 COL2A1 ALPL ANKH PTHLH
4 growth/size/body region MP:0005378 10.21 TAPT1 SOX9 ABCC9 COL2A1 ALPL DYM
5 behavior/neurological MP:0005386 10.19 SOX9 COL2A1 DYM ALPL FGFR3 ANKH
6 homeostasis/metabolism MP:0005376 10.13 SOX9 SP7 ABCC9 COL2A1 ALPL FGFR3
7 digestive/alimentary MP:0005381 10.06 SOX9 TAPT1 COL2A1 ALPL FGFR3 PTHLH
8 limbs/digits/tail MP:0005371 10.03 SP7 SOX9 COL2A1 ALPL DYM FGFR3
9 mortality/aging MP:0010768 10.03 SP7 TAPT1 SOX9 ABCC9 COL2A1 ALPL
10 respiratory system MP:0005388 9.65 SP7 SOX9 COL2A1 ALPL FGFR3 ANKH
11 skeleton MP:0005390 9.47 SP7 TAPT1 SOX9 COL2A1 ALPL DYM

Drugs & Therapeutics for Osteochondrodysplasia

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

(show top 50) (show all 122)
# 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,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 D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
7
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
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 Ergocalciferols Phase 4
12 Micronutrients Phase 4,Phase 3
13 Trace Elements Phase 4,Phase 3
14 Vitamins Phase 4,Phase 3,Phase 2
15 Anti-Bacterial Agents Phase 4
16 Gentamicins Phase 4
17 diuretics Phase 4
18 Natriuretic Agents Phase 4,Phase 3,Phase 2
19 Sodium Chloride Symporter Inhibitors Phase 4
20 Vaccines Phase 4
21 Calciferol Nutraceutical Phase 4
22 Vitamin D2 Nutraceutical Phase 4
23
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 55-98-1 2478
24
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
25
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable 21679-14-1, 75607-67-9 30751
26
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
27
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
28
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3 216503-57-0
29
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
30
Etidronic acid Approved Phase 2, Phase 3,Phase 3 7414-83-7, 2809-21-4 3305
31
Zoledronic acid Approved Phase 3,Phase 2 118072-93-8 68740
32
Denosumab Approved Phase 3,Phase 2 615258-40-7
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
34
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
35
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
36 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
37 Antifungal Agents Phase 2, Phase 3,Phase 1
38 Antilymphocyte Serum Phase 2, Phase 3
39 Antimetabolites Phase 2, Phase 3,Phase 3
40 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3
41 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1
42 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1
43 Calcineurin Inhibitors Phase 2, Phase 3,Phase 1
44 Cyclosporins Phase 2, Phase 3,Phase 1,Not Applicable
45 Dermatologic Agents Phase 2, Phase 3,Phase 1
46 Folic Acid Antagonists Phase 2, Phase 3
47 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
48 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
49 Vitamin B Complex Phase 2, Phase 3
50 Antiviral Agents Phase 2, Phase 3,Phase 3

Interventional clinical trials:

(show top 50) (show all 147)
# 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 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
8 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
9 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
10 A Single Centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00872794 Phase 4
11 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
12 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
13 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
14 A Multi-centre Study to Assess the Long-term Performance of the Summit™ Hip in Primary Total Hip Replacement Terminated NCT00208390 Phase 4
15 A Multi-centre Study to Assess the Long-term Performance of the DePuy ASR™ System in Primary Hip Resurfacing Surgery Terminated NCT00208377 Phase 4
16 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
17 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
18 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
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 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
25 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
26 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
27 Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children Completed NCT00106028 Phase 3 risedronate sodium (Actonel);Placebo
28 Pamidronate to Treat Osteogenesis Imperfecta in Children Completed NCT00005901 Phase 3 Pamidronate (Aredia)
29 Growth Hormone Therapy in Osteogenesis Imperfecta Completed NCT00001305 Phase 3 Humatrope;Nutropin;GRH
30 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3 Pegvisomant
31 Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI Recruiting NCT02352753 Phase 3 Denosumab
32 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
33 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
34 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
35 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
36 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2
37 TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE Unknown status NCT01791842 Phase 2 Tocilizumab;Placebo
38 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
39 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)
40 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
41 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
42 Alendronate to Treat Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Completed NCT00001728 Phase 2 Fosamax (Alendronate)
43 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
44 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2 Testolactone
45 Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab Completed NCT01799798 Phase 2 Denosumab
46 Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta Completed NCT01417091 Phase 2 BPS804
47 Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta Completed NCT00131118 Phase 2 Zoledronic Acid
48 Bisphosphonate Treatment of Osteogenesis Imperfecta Completed NCT00063479 Phase 2 Zoledronic Acid
49 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
50 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2 Arimidex 1 mg

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, Bone Marrow, Brain, T Cells, Testes, Kidney, Skin

Publications for Osteochondrodysplasia

Articles related to Osteochondrodysplasia:

(show top 50) (show all 82)
# 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
Efficacy and Complications of Palliative Irradiation in Three Scottish Fold Cats with Osteochondrodysplasia. ( 26365740 )
2015
5
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. ( 26365339 )
2015
6
Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review. ( 21728924 )
2012
7
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A. ( 22940367 )
2012
8
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. ( 23300579 )
2012
9
Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21. ( 22517500 )
2012
10
Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat. ( 21851869 )
2011
11
Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression. ( 18401562 )
2008
12
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. ( 18339089 )
2008
13
Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. ( 17164305 )
2007
14
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. ( 18000903 )
2007
15
Osteochondrodysplasia in three Scottish Fold cats. ( 17679781 )
2007
16
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. ( 17009344 )
2006
17
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. ( 15562030 )
2005
18
Fryns syndrome with osteochondrodysplasia. ( 15793837 )
2005
19
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. ( 16086394 )
2005
20
Palliative irradiation of Scottish Fold osteochondrodysplasia. ( 15605854 )
2004
21
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. ( 15476249 )
2004
22
A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar kyphoscoliosis. ( 12763346 )
2003
23
Retinitis pigmentosa with osteochondrodysplasia in siblings. ( 11702989 )
2001
24
Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (CantA_ syndrome): a new case with unusual radiological findings. ( 10817653 )
2000
25
A locus responsible for osteochondrodysplasia (ocd) is located on rat chromosome 11. ( 10818212 )
2000
26
The genetic basis of the osteochondrodysplasias. ( 11008738 )
2000
27
[Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis]. ( 10929597 )
2000
28
Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. ( 10664159 )
2000
29
Autosomal dominant inheritance in CantA_ syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). ( 11050630 )
2000
30
Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery. ( 10408824 )
1999
31
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: CantA_ syndrome. ( 10398267 )
1999
32
A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. ( 10523019 )
1999
33
Osteochondrodysplasia in Scottish Fold cats. ( 10078353 )
1999
34
Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty. ( 10202296 )
1999
35
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. ( 9426272 )
1998
36
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. ( 9571276 )
1998
37
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs. ( 9856576 )
1998
38
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. ( 9056550 )
1997
39
First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. ( 9415697 )
1997
40
Osteochondrodysplasia occurring in transgenic mice expressing interferon-gamma. ( 9381654 )
1997
41
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. ( 9024569 )
1997
42
Blomstrand lethal osteochondrodysplasia. ( 8723092 )
1996
43
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. ( 8957508 )
1996
44
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. ( 7859284 )
1995
45
A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy. ( 7981898 )
1994
46
Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4. ( 8092197 )
1994
47
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. ( 8020961 )
1994
48
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. ( 8325655 )
1993
49
Cataracts in Morquio syndrome (mucopolysaccharidosis IV A). ( 8233358 )
1993
50
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia. ( 8486375 )
1993

Variations for Osteochondrodysplasia

ClinVar genetic disease variations for Osteochondrodysplasia:

6
(show top 50) (show all 194)
# 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.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
10 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
11 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
12 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
13 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
14 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
15 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
16 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
17 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
18 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
19 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
20 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
21 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
22 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
23 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
24 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
25 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
26 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
27 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
28 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
29 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
30 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
31 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
32 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
33 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
34 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
35 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
36 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
37 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
38 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
39 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
40 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
41 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
42 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
43 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846
44 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
45 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh37 Chromosome 5, 149363979: 149363979
46 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh38 Chromosome 5, 149984416: 149984416
47 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh37 Chromosome 5, 149363993: 149363993
48 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh38 Chromosome 5, 149984430: 149984430
49 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh38 Chromosome 5, 149985074: 149985074
50 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh37 Chromosome 5, 149364637: 149364637

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 inward rectifying potassium channel GO:0008282 8.62 ABCC9 KCNJ8

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.71 ALPL BGLAP SHOX2 SP7
2 cartilage development GO:0051216 9.7 COL2A1 SOX9 TAPT1
3 bone development GO:0060348 9.67 BGLAP COL2A1 DYM
4 neural crest cell development GO:0014032 9.62 SOX9 TAPT1
5 regulation of bone mineralization GO:0030500 9.62 ANKH BGLAP
6 cartilage condensation GO:0001502 9.61 COL2A1 SOX9
7 response to vitamin D GO:0033280 9.61 ALPL BGLAP
8 tissue homeostasis GO:0001894 9.6 COL2A1 SOX9
9 negative regulation of chondrocyte differentiation GO:0032331 9.59 PTHLH SOX9
10 positive regulation of cartilage development GO:0061036 9.58 SOX9 TAPT1
11 chondrocyte development GO:0002063 9.58 SHOX2 SOX9
12 limb bud formation GO:0060174 9.57 COL2A1 SOX9
13 embryonic skeletal joint morphogenesis GO:0060272 9.56 COL2A1 SHOX2
14 bone mineralization GO:0030282 9.56 BGLAP FGFR3 PTH1R PTHLH
15 regulation of chondrocyte differentiation GO:0032330 9.55 PTHLH SHOX2
16 chondrocyte differentiation GO:0002062 9.55 COL2A1 FGFR3 PTH1R SHOX2 SOX9
17 notochord development GO:0030903 9.54 COL2A1 SOX9
18 endochondral ossification GO:0001958 9.54 ALPL COL2A1 FGFR3
19 otic vesicle development GO:0071599 9.51 COL2A1 SOX9
20 osteoblast development GO:0002076 9.5 BGLAP PTH1R PTHLH
21 heart valve development GO:0003170 9.48 SHOX2 SOX9
22 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.46 COL2A1 SHOX2
23 anterior head development GO:0097065 9.43 COL2A1 SOX9
24 ossification GO:0001503 9.43 BGLAP COL2A1 PTH1R SLC26A2 SOX9 TAPT1
25 skeletal system development GO:0001501 9.28 ALPL ANKH BGLAP COL2A1 FGFR3 PTH1R

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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