Osteochondritis Dissecans (OCD)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Osteochondritis Dissecans

MalaCards integrated aliases for Osteochondritis Dissecans:

Name: Osteochondritis Dissecans 12 74 52 58 29 6 43 15 37 71 32
Osteochondritis 43 71
Kônig Disease 52
König Disease 52
Konig Disease 58
Ocd 12


Orphanet epidemiological data:

osteochondritis dissecans
Age of onset: All ages; Age of death: normal life expectancy;


Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases

External Ids:

Disease Ontology 12 DOID:84
ICD9CM 34 732.7
SNOMED-CT 67 70736000 82562007
ICD10 32 M93.2 M93.9
MESH via Orphanet 44 D010008
ICD10 via Orphanet 33 M93.2
UMLS via Orphanet 72 C0029421
Orphanet 58 ORPHA2764
UMLS 71 C0029420 C0029421

Summaries for Osteochondritis Dissecans

NIH Rare Diseases : 52 Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations ) in the ACAN gene and is inherited in an autosomal dominant manner. Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy .

MalaCards based summary : Osteochondritis Dissecans, also known as osteochondritis, is related to familial osteochondritis dissecans and epiphyseal dysplasia, multiple, 2, and has symptoms including waddling gait, knee pain and elbow pain. An important gene associated with Osteochondritis Dissecans is ACAN (Aggrecan), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Mitogens and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include epiphysis, bone and bone marrow, and related phenotypes are joint stiffness and arthralgia

Disease Ontology : 12 An ischemic bone disease that results in necrosis located in epiphysis.

Wikipedia : 74 Osteochondritis dissecans (OCD or OD) is a joint disorder primarily of the subchondral bone in which... more...

Related Diseases for Osteochondritis Dissecans

Diseases in the Osteochondritis Dissecans family:

Familial Osteochondritis Dissecans

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

(show top 50) (show all 335)
# Related Disease Score Top Affiliating Genes
1 familial osteochondritis dissecans 34.6 TNR FBLN2 FBLN1 ACAN
2 epiphyseal dysplasia, multiple, 2 32.8 MATN3 COMP COL9A3 COL9A2 COL9A1
3 scheuermann disease 32.4 COL9A3 COL2A1
4 legg-calve-perthes disease 31.3 MATN3 COL9A1 COL2A1
5 avascular necrosis 31.1 COL2A1 BMP2
6 osteonecrosis 31.0 COL2A1 BMP7 BMP2
7 osteochondrosis 31.0 SOX9 COL9A3 COL9A2 COL9A1 COL2A1 CD36
8 chondromalacia 30.9 COMP ACAN
9 back pain 30.4 COL9A3 COL9A2
10 exostosis 30.3 MMP13 COL2A1 BMP2 ACAN
11 tendinitis 30.2 MMP3 MMP13 COMP
12 coxa vara 30.2 PRG4 MMP13 COL2A1
13 skeletal dysplasias 30.1 MATN3 COMP COL2A1
14 synovitis 30.0 PRG4 MMP3 MMP13 COMP COL2A1 ACAN
15 spondyloepiphyseal dysplasia with congenital joint dislocations 29.9 COMP COL9A2 COL9A1 COL2A1 ACAN
16 arthritis 29.8 MMP3 MMP13 COMP COL2A1 ACAN
17 bone inflammation disease 29.7 MMP3 MMP13 COMP COL2A1 ACAN
18 synovial chondromatosis 29.6 SOX9 COL2A1 BMP2
19 brachydactyly 29.3 COMP COL2A1 BMP2 ACAN
20 stickler syndrome 29.2 SOX9 MATN3 COL9A3 COL9A2 COL9A1 COL2A1
21 arthropathy 29.2 PRG4 MMP3 MMP13 COMP COL2A1 ACAN
22 achondroplasia 29.0 SOX9 COMP COL2A1 ACAN
23 multiple epiphyseal dysplasia 28.9 SOX9 MATN3 COMP COL9A3 COL9A2 COL9A1
24 brittle bone disorder 28.8 SOX9 COL2A1 CD36 BMP2 ACAN
25 scoliosis 28.8 SOX9 MMP3 MMP13 COMP COL2A1 ACAN
26 cleft palate, isolated 28.6 SOX9 COL9A2 COL9A1 COL2A1 BMP7 BMP2
27 spinal stenosis 28.5 MMP3 MMP13 COL9A3 COL9A2 COL9A1 COL2A1
28 degenerative disc disease 28.4 SOX9 MMP3 MMP13 COL9A3 BMP2 ACAN
29 bone disease 28.4 MMP13 MATN3 COMP COL2A1 CD36 BMP7
30 osteoarthritis 28.2 SOX9 PRG4 MMP3 MMP13 MATN3 COMP
31 cartilage disease 27.9 SOX9 PRG4 MMP13 COMP COL2A1 BMP2
32 odontochondrodysplasia 27.5 SOX9 MMP13 MATN3 GAPDH COMP COL9A3
33 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 13.2
34 obsessive-compulsive disorder 12.6
35 idiopathic avascular necrosis 12.2
36 kohler's disease 11.6
37 gilles de la tourette syndrome 11.6
38 loeys-dietz syndrome 3 11.5
39 achilles bursitis 11.5
40 body dysmorphic disorder 11.5
41 trichotillomania 11.5
42 ruvalcaba syndrome 11.2
43 bazex syndrome 11.2
44 early congenital syphilis 11.2
45 dystonia 11, myoclonic 11.1
46 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.1
47 choreoacanthocytosis 11.1
48 succinic semialdehyde dehydrogenase deficiency 11.1
49 chromosome 3pter-p25 deletion syndrome 11.1
50 multiple personality disorder 11.1

Graphical network of the top 20 diseases related to Osteochondritis Dissecans:

Diseases related to Osteochondritis Dissecans

Symptoms & Phenotypes for Osteochondritis Dissecans

Human phenotypes related to Osteochondritis Dissecans:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
4 abnormality of the knee 58 31 hallmark (90%) Very frequent (99-80%) HP:0002815
5 limited elbow extension 58 31 frequent (33%) Frequent (79-30%) HP:0001377
6 decreased hip abduction 58 31 frequent (33%) Frequent (79-30%) HP:0003184
7 limited elbow flexion 58 31 frequent (33%) Frequent (79-30%) HP:0006376
8 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
9 abnormality of tibia morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002992
10 quadriceps muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009050
11 limitation of joint mobility 58 Very frequent (99-80%)
12 abnormal joint morphology 58 Frequent (79-30%)
13 abnormality of skeletal physiology 58 Frequent (79-30%)

UMLS symptoms related to Osteochondritis Dissecans:

waddling gait, knee pain, elbow pain, swelling in the elbows

GenomeRNAi Phenotypes related to Osteochondritis Dissecans according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.98 MMP3
2 Decreased viability GR00055-A-2 9.98 MMP3
3 Decreased viability GR00240-S-1 9.98 CD36
4 Decreased viability GR00249-S 9.98 CD36 COL9A1 FBLN1 GAPDH MMP3 SOX9
5 Decreased viability GR00381-A-1 9.98 COL9A3
6 Decreased viability GR00381-A-2 9.98 COL9A3
7 Decreased viability GR00381-A-3 9.98 COL9A3
8 Decreased viability GR00386-A-1 9.98 CD36 FBLN2
9 Decreased viability GR00402-S-2 9.98 BMP2 BMP7 COL9A2 COL9A3 COMP FBLN1
10 Increased shRNA abundance GR00327-A 8.92 CD36 COL9A2 MMP3 PRG4

MGI Mouse Phenotypes related to Osteochondritis Dissecans:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 BMP2 BMP7 CD36 COL2A1 COMP FBLN1
2 immune system MP:0005387 9.9 BMP2 BMP7 CD36 COL2A1 COL9A1 COL9A3
3 hearing/vestibular/ear MP:0005377 9.86 BMP2 BMP7 COL2A1 COL9A1 COL9A2 COL9A3
4 limbs/digits/tail MP:0005371 9.65 BMP2 BMP7 COL2A1 COL9A1 COL9A2 COMP
5 skeleton MP:0005390 9.44 BMP2 BMP7 CD36 COL2A1 COL9A1 COL9A2

Drugs & Therapeutics for Osteochondritis Dissecans

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

# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens Phase 3
2 Astragalus
3 Fibrin Tissue Adhesive
4 Anesthetics
5 Anesthetics, Local

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 A Randomized, Subject-blind, Controlled Pilot Trial to Evaluate the Effectiveness and Safety of the Use of Demineralized Bone Matrix (DBX®) Versus Mosaicplasty in the Treatment of Late-Stage Osteochondritis Dissecans (OCD) of the Knee in Patients With a Mature Skeleton Withdrawn NCT01283737 Phase 4
2 A Randomised Clinical Trial Comparing a Novel Single-stage Autologous Cartilage Implantation System to Conventional Microfracture for Repair of Articular Cartilage Defects in the Knee Unknown status NCT01498029 Phase 3
3 Randomised Multi-Center Study: Microfracturing With Chondro-Gide® for the Treatment of Isolated Cartilage Defects in the Knee Project-Nr.: 10830-003 Completed NCT02993510 Phase 3
4 A Prospective, Open-label, Randomized, Concurrent Active-controlled, Longitudinal, Multicenter, Phase 3 Clinical Study of the Safety and Efficacy of MACI in Patients Aged 10 to 17 Years With Symptomatic Chondral or Osteochondral Defects of the Knee Due to Osteochondritis Dissecans or Acute Trauma Recruiting NCT03588975 Phase 3
5 A Prospective Open-label Multi-center Study to Demonstrate the Safety and Efficacy of Cells Sheet-Autologous Chondrocyte Implantation(CS-ACI)for the Treatment of Articular Cartilage Defects Unknown status NCT01694823 Phase 1, Phase 2 CS-ACI
6 Outcome of the Knee Osteochonditis Dissecans Patiets in Kuopio University Hospital (1990-2009): A Retropective Analysis Unknown status NCT01455987
7 Repair of Articular Osteochondral Defect Unknown status NCT01409447
8 A Randomized, Controlled Clinical Trial to Evaluate the Effect on Patient Outcomes of Weight Bearing Status After Forage of Osteochondral Defects of the Ankle Unknown status NCT01405664
9 Post Market, Longitudinal Data Collection Study of Articular Cartilage Lesions in the Ankle Treated With DeNovo(R) NT Natural Tissue Graft Unknown status NCT01347892
10 Pilot Study of A One-Step Procedure for the Use of Autologous Bone Marrow Mesenchymal Stem Cells Stimulated by Proteins Scaffold to Heal Under Arthroscopy Full-Thickness Defects Articular Cartilage and Osteoarthrosis of the Knee. Unknown status NCT01159899 Early Phase 1
11 Mesenchymal Stem Cell Transplantation in the Treatment of Osteonecrosis of the Femoral Head Unknown status NCT00813267 Early Phase 1
12 "One-step" Bone Marrow Mononuclear Cell Transplantation in Talar Osteochondral Lesions Unknown status NCT02005861
13 Evaluation of the Agili-C Bi-phasic Implant Performances in the Repair of Cartilage and Osteochondral Defects Completed NCT01471236
14 Examination and Post-operative Rehabilitation of University Athletes With Osteochondral Lesions of the Knee: A Case Series Report Completed NCT03452098
15 Meniscal Repair: A Randomized Prospective Trial of FAST-FIX vs. Meniscal Suturing Completed NCT00284661
16 Effects of Low Frequency Neuromuscular Electrical Stimulation Applied to the Quadriceps in the Production of Knee Extension Strength and Control of Edema After Anterior Cruciate Ligament Reconstruction Completed NCT01633047
17 Intra Articular Injections With Platelet Rich Plasma in Patients With Juvenile Osteochondritis Dissecans of the Knee: Does it Help? A Clinical and Magnetic Resonance Imaging (MRI) Study. Recruiting NCT02397278 Platelet rich plasma (PRP)
18 Prospective 2-year Data Collection of the First 10 Patients After Ankle Spacer Recruiting NCT04297449
19 Collecting Diagnostic, Treatment and Follow-up Data on Knee Treatments. Recruiting NCT04364334
20 Biological Effects of a Bipolar Radiofrequency-based Device Over Shoulder Cartilage - a Randomized Controlled Clinical Trial Recruiting NCT04309344
21 Focal Cartilage Defects in the Knee -A Randomized Controlled Trial Comparing Autologous Chondrocyte Implantation With Arthroscopic Debridement Recruiting NCT02636881
22 Introduction of Autologous Chondrocyte Implantation Procedure for the Treatment of Chondral Defect in the Knee Recruiting NCT04296487
23 Detection by Digital PCR and Next Generation Sequencing of Recurrent Mutations in Waldenström's Disease and Study of Their Distribution in the Different Biological Compartments Recruiting NCT03952052
24 Retro Versus Trans Articular Drilling for Juvenile Osteochondritis Dissecans of the Knee: A Multicenter, Randomized Controlled Trial Active, not recruiting NCT01754298
25 Retrospective Chart Analysis of Elbow Arthroscopy for the Treatment of Osteoarthritis, Radiocapitellar Plica, Lateral Epicondylitis or Osteochondritis Dissecans Active, not recruiting NCT03656185
26 ROCK Comprehensive Prospective Cohort for Osteochondritis Dissecans of the Knee Active, not recruiting NCT02771496
27 A Randomized Trial Comparing Autologous Chondrocyte Implantation Using Collagen Membrane (ACI-C) Versus (Autologous Matrix Induced Chondrogenesis) AMIC for Repair of Cartilage Defects in the Knee Active, not recruiting NCT01458782
28 Post Market, Longitudinal Data Collection Study of DeNovo NT for Articular Cartilage Defects of the Knee Active, not recruiting NCT01329445
29 MRI Findings of Epiphyseal Growth Plate in Healthy Children Enrolling by invitation NCT03190200
30 National Prospective and Retrospective Follow-up of Patients With COVID-19 Infected Chronic Lymphocytic Leukemia / Lymphocytic Lymphoma or Waldenström Disease Not yet recruiting NCT04391946
31 Conjoint Analysis of Patient Preferences in Joint Interventions Suspended NCT02664337
32 A Multicenter, Randomized, Pivotal Study to Evaluate the Safety and Efficacy of the Cartilage Autograft Implantation System (CAIS) for the Surgical Treatment of Articular Cartilage Lesions of the Knee Terminated NCT00881023
33 A Post Market Study to Evaluate the Chondrofix® Osteochondral Allograft Utilized for Treatment of Subjects With Cartilage Lesions in the Knee Terminated NCT01410136

Search NIH Clinical Center for Osteochondritis Dissecans

Cell-based therapeutics:

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Osteochondritis Dissecans cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: osteochondritis

Genetic Tests for Osteochondritis Dissecans

Genetic tests related to Osteochondritis Dissecans:

# Genetic test Affiliating Genes
1 Osteochondritis Dissecans 29 ACAN

Anatomical Context for Osteochondritis Dissecans

The Foundational Model of Anatomy Ontology organs/tissues related to Osteochondritis Dissecans:


MalaCards organs/tissues related to Osteochondritis Dissecans:

Bone, Bone Marrow, Skin, Kidney, Lung, Pituitary

Publications for Osteochondritis Dissecans

Articles related to Osteochondritis Dissecans:

(show top 50) (show all 2398)
# Title Authors PMID Year
Aggrecanopathies highlight the need for genetic evaluation of ISS children. 61
32413843 2020
Osteochondritis Dissecans of the Knee: Short-Term Outcomes of a Hybrid Technique to Restore a Partially Salvageable Progeny Fragment. 61
30141694 2020
Osteochondritis Dissecans in the Knee of Skeletally Immature Patients: Rates of Persistent Pain, Osteoarthritis, and Arthroplasty at Mean 14-Years' Follow-Up. 61
29998745 2020
Osteochondritis Dissecans of the Knee: Etiology and Pathogenetic Mechanisms. A Systematic Review. 61
29998741 2020
Advances in Sports Medicine and Care of the Adolescent Athlete. 61
32389257 2020
Fresh Precut Osteochondral Allograft Core Transplantation for the Treatment of Capitellum Osteochondritis Dissecans. 61
32577354 2020
Capitellar Osteochondritis Dissecans Lesions of the Elbow: A Systematic Review of Osteochondral Graft Reconstruction Options. 61
32035172 2020
Long-Term Outcomes of Arthroscopic Debridement With or Without Drilling for Osteochondritis Dissecans of the Capitellum in Adolescent Baseball Players: A ≥10-Year Follow-Up Study. 61
32001276 2020
Editorial Commentary: Should We Consider Early Retirement for Adolescent Pitchers and Catchers With Osteochonditis Dissecans of the Capitellum? 61
32370890 2020
Biomechanical Changes of Repair Tissue after Autologous Chondrocyte Implantation at Long-Term Follow-Up. 61
32447977 2020
Description of a rare osteochondrosis lesion of the medial aspect of the distal intermediate ridge of the tibia in seven Thoroughbred horses (2008-2018). 61
32020748 2020
Therapeutic mesenchymal stromal stem cells: Isolation, characterization and role in equine regenerative medicine and metabolic disorders. 61
31797146 2020
A Staged Arthroscopic Approach to Fixation of Unstable Osteochondritis Dissecans in the Medial Femoral Condyle of the Knee Using Nonabsorbable Fixation Screws. 61
32368467 2020
Management of the Failed OCD. 61
32147780 2020
MRI evaluation of articular cartilage in patients with juvenile osteochondritis dissecans (JOCD) using T2∗ mapping at 3T. 61
32278071 2020
Autologous Chondrocyte Implantation as Treatment for Unsalvageable Osteochondritis Dissecans: 10- to 25-Year Follow-up. 61
32181674 2020
All-Arthroscopic Osteochondral Autograft Transfer Technique for Osteochondritis Dissecans of the Talus. 61
32368470 2020
Technique for Arthroscopic Debridement and Microfracture of Unstable, Contained Osteochondritis Dissecans Lesions of the Capitellum. 61
32368475 2020
The Influence of Physeal Status on Rate of Reoperation After Arthroscopic Screw Fixation for Symptomatic Osteochondritis Dissecans of the Knee. 61
31870748 2020
Erratum to "Closed-Wedge Osteotomy of the Distal Humerus for Treating Osteochondritis Dissecans of the Capitellum in Young Patients". 61
32284942 2020
A case report of osteochondritis dissecans of the first metatarsophalangeal joint treated with autologous cancellous bone and chondral flap reconstruction. 61
32153761 2020
Early Radiographic Healing and Functional Results After Autologous Osteochondral Grafting for Osteochondritis Dissecans of the Capitellum: Introduction of a New Magnetic Resonance Imaging-Based Scoring System. 61
32053395 2020
Juvenile Osteochondritis Dissecans of the Trochlea: A Cohort Study of 34 Trochlear Lesions Associated With Sporting Activities That Load the Patellofemoral Joint. 61
32028470 2020
Measuring Knee Bone Marrow Perfusion Using Arterial Spin Labeling at 3 T. 61
32210271 2020
Osteochondritis Dissecans Lesion Location Is Highly Concordant With Mechanical Axis Deviation. 61
32167842 2020
Open Reduction and Internal Fixation for the Treatment of Symptomatic Osteochondritis Dissecans of the Femoral Head in Patients With Sequelae of Legg-Calvé-Perthes Disease. 61
32028473 2020
Osteochondritis Dissecans in Pediatric Patients with Juvenile Idiopathic Arthritis. 61
31941802 2020
Editorial Commentary: Osteochondritis Dissecans of the Knee: The Great Confounder. 61
32139056 2020
Failure of Surgery for Osteochondral Injuries of the Elbow in the Pediatric and Adolescent Population. 61
31950429 2020
Long-term Results of Matrix-assisted Autologous Chondrocyte Transplantation Combined With Autologous Bone Grafting for the Treatment of Juvenile Osteochondritis Dissecans. 61
31107345 2020
[Not a Chronic Tennis Elbow]. 61
32019453 2020
Osteochondritis dissecans of the glenoid in gymnasts: Report of two cases. 61
32107134 2020
Early Results of Single-plug Autologous Osteochondral Grafting for Osteochondritis Dissecans of the Capitellum in Adolescents. 61
31923167 2020
Contralateral Lateral Femoral Condyle Allografts Provide an Acceptable Surface Match for Simulated Classic Osteochondritis Dissecans Lesions of the Medial Femoral Condyle. 61
32064295 2020
Osteochondral Reconstruction of the Capitellum. 61
31739884 2020
Synovial sepsis of unknown origin in the adult Thoroughbred racehorse. 61
31006125 2020
A triplanar osteotomy technique in arthroscopy-assisted ankle mosaicplasty. 61
32189573 2020
Nonoperative treatment of stable juvenile osteochondritis dissecans of the knee: effectiveness of unloader bracing. 61
31774736 2020
Matrix induced autologous chondrocyte implantation in the knee: Comparison between osteochondritis dissecans and osteonecrosis and effect of chondrocyte thickness on prognosis. 61
32175899 2020
A novel autologous-made matrix using hyaline cartilage chips and platelet-rich growth factors for the treatment of full-thickness cartilage or osteochondral defects: Preliminary results. 61
31835970 2020
Health State Utilities in Children and Adolescents With Osteochondritis Dissecans of the Knee. 61
31840031 2019
Condylar Destruction in an 8-Year-Old Girl After Osteochondritis Dissecans. 61
31931954 2019
Epidemiology, Injury Patterns, and Treatment of Meniscal Tears in Pediatric Patients: A 16-Year Experience of a Single Center. 61
31903403 2019
Biomechanical modeling of deep squatting: Effects of the interface contact between posterior thigh and shank. 61
31558308 2019
Internal Fixation of Osteochondritis Dissecans of the Knee Leads to Good Long-Term Outcomes and High Degree of Healing without Differences between Fixation Devices. 61
31717628 2019
Editorial Commentary: "Elbow-to-Elbow" Capitellar Osteochondral Autologous Transplantation for Osteochondritis Dissecans-Are We Closer to the Holy Grail of Osteochondral Graft? 61
31699254 2019
Histologic Analysis of 2 Alternative Donor Sites of the Ipsilateral Elbow in the Treatment of Capitellar Osteochondritis Dissecans. 61
31699253 2019
Osteochondritis Dissecans of the Elbow in Children: MRI Findings of Instability. 61
31461319 2019
The Treatment of Adult Osteochondritis Dissecans with Autologous Cartilage Implantation: A Systematic Review. 61
30396204 2019
[Differential diagnoses of osteonecrosis of large joints]. 61
31642951 2019

Variations for Osteochondritis Dissecans

ClinVar genetic disease variations for Osteochondritis Dissecans:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACAN NM_001369268.1(ACAN):c.273del (p.Arg93fs)deletion Pathogenic 440744 rs1555453708 15:89382095-89382095 15:88838864-88838864
2 ACAN NM_001369268.1(ACAN):c.2026+1G>ASNV Pathogenic 440745 rs1555455127 15:89392963-89392963 15:88849732-88849732
3 ACAN NM_001369268.1(ACAN):c.7178T>C (p.Leu2393Pro)SNV Pathogenic 440746 rs1555457513 15:89414730-89414730 15:88871499-88871499
4 ACAN NM_001369268.1(ACAN):c.5391del (p.Gln1798fs)deletion Pathogenic 440747 rs1555456230 15:89401205-89401205 15:88857974-88857974
5 ACAN NM_001369268.1(ACAN):c.4657G>T (p.Glu1553Ter)SNV Pathogenic 440748 rs1555456128 15:89400473-89400473 15:88857242-88857242
6 ACAN NM_001369268.1(ACAN):c.223T>C (p.Trp75Arg)SNV Pathogenic 440749 rs1555453695 15:89382046-89382046 15:88838815-88838815
7 ACAN NM_001369268.1(ACAN):c.1425del (p.Val478fs)deletion Pathogenic 440750 rs1555454630 15:89389109-89389109 15:88845878-88845878
8 ACAN NM_001369268.1(ACAN):c.7317G>A (p.Trp2439Ter)SNV Pathogenic 440751 rs1555457632 15:89416126-89416126 15:88872895-88872895
9 ACAN NM_001369268.1(ACAN):c.7204C>T (p.Gln2402Ter)SNV Pathogenic 440752 rs1555457525 15:89414756-89414756 15:88871525-88871525
10 ACAN NM_001369268.1(ACAN):c.1745del (p.Phe582fs)deletion Pathogenic 440753 rs1555455057 15:89392680-89392680 15:88849449-88849449
11 ACAN NM_001369268.1(ACAN):c.2541del (p.Val848fs)deletion Pathogenic 803118 15:89398352-89398352 15:88855121-88855121
12 ACAN NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met)SNV Pathogenic 14306 rs267606625 15:89416172-89416172 15:88872941-88872941
13 ACAN NM_001369268.1(ACAN):c.-7-2A>TSNV Likely pathogenic 635418 15:89379429-89379429 15:88836198-88836198
14 ACAN NM_001369268.1(ACAN):c.1955C>T (p.Thr652Met)SNV Uncertain significance 873431 15:89392891-89392891 15:88849660-88849660
15 ACAN NM_001369268.1(ACAN):c.7358A>T (p.Asp2453Val)SNV Uncertain significance 252934 rs879255506 15:89416167-89416167 15:88872936-88872936
16 ACAN NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn)SNV Uncertain significance 444004 rs1555454545 15:89388877-89388877 15:88845646-88845646
17 ACAN NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys)SNV Likely benign 803117 15:89386741-89386741 15:88843510-88843510
18 ACAN NM_001369268.1(ACAN):c.230G>A (p.Arg77His)SNV Benign/Likely benign 446080 rs199701329 15:89382053-89382053 15:88838822-88838822
19 ACAN NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln)SNV Benign 803116 15:89386652-89386652 15:88843421-88843421

Expression for Osteochondritis Dissecans

Search GEO for disease gene expression data for Osteochondritis Dissecans.

Pathways for Osteochondritis Dissecans

Pathways related to Osteochondritis Dissecans according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
13.27 PRG4 MMP3 MMP13 COL9A3 COL9A2 COL9A1
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
9 11.84 SOX9 COL2A1 ACAN
10 11.78 SOX9 COL2A1 BMP7 BMP2 ACAN
11 11.76 SOX9 COL2A1 BMP7
Show member pathways
13 11.53 SOX9 MMP13 COL2A1 BMP7 ACAN
14 11.52 MMP3 MMP13 COL2A1
15 11.28 COL9A3 COL9A2 COL9A1
18 11.24 COMP COL2A1 ACAN
19 10.94 BMP7 BMP2
20 10.91 COL2A1 BMP2
21 10.87 PRG4 COL9A3 COL9A2 COL9A1 COL2A1 BMP7

GO Terms for Osteochondritis Dissecans

Cellular components related to Osteochondritis Dissecans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.07 TNR MMP3 MMP13 MATN3 FBLN1 COMP
2 extracellular region GO:0005576 10.03 TNR PRG4 MMP3 MMP13 MATN3 FBLN2
3 endoplasmic reticulum lumen GO:0005788 9.8 MATN3 COL9A3 COL9A2 COL9A1 COL2A1
4 collagen trimer GO:0005581 9.8 MMP13 COL9A3 COL9A2 COL9A1 COL2A1 CD36
5 collagen-containing extracellular matrix GO:0062023 9.73 TNR PRG4 MATN3 FBLN2 FBLN1 COMP
6 basement membrane GO:0005604 9.61 FBLN1 COL2A1 ACAN
7 collagen type IX trimer GO:0005594 9.54 COL9A3 COL9A2 COL9A1
8 extracellular matrix GO:0031012 9.4 TNR MMP3 MMP13 MATN3 FBLN2 FBLN1

Biological processes related to Osteochondritis Dissecans according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.79 COMP BMP7 BMP2
2 animal organ morphogenesis GO:0009887 9.73 COMP COL9A1 BMP7 BMP2
3 cartilage development GO:0051216 9.7 SOX9 MMP13 MATN3 COMP COL2A1 BMP7
4 collagen fibril organization GO:0030199 9.69 COMP COL2A1 ACAN
5 chondrocyte differentiation GO:0002062 9.67 SOX9 COL2A1 BMP2
6 bone mineralization GO:0030282 9.65 MMP13 COMP BMP2
7 ossification GO:0001503 9.65 SOX9 COMP COL2A1 BMP7 BMP2
8 endocardial cushion morphogenesis GO:0003203 9.63 SOX9 BMP2
9 positive regulation of cartilage development GO:0061036 9.63 SOX9 BMP2
10 epithelial to mesenchymal transition GO:0001837 9.63 SOX9 BMP7 BMP2
11 response to amyloid-beta GO:1904645 9.62 MMP3 MMP13
12 cellular response to BMP stimulus GO:0071773 9.62 SOX9 COL2A1 BMP7 BMP2
13 limb bud formation GO:0060174 9.61 SOX9 COL2A1
14 notochord development GO:0030903 9.61 SOX9 COL2A1
15 embryonic skeletal joint morphogenesis GO:0060272 9.6 COL2A1 BMP7
16 mesenchymal cell differentiation GO:0048762 9.59 BMP7 BMP2
17 growth plate cartilage development GO:0003417 9.58 MMP13 COMP
18 otic vesicle development GO:0071599 9.58 SOX9 COL2A1
19 cartilage condensation GO:0001502 9.58 SOX9 COL2A1 ACAN
20 proteoglycan metabolic process GO:0006029 9.57 COL2A1 BMP2
21 regulation of removal of superoxide radicals GO:2000121 9.56 CD36 BMP7
22 skeletal system development GO:0001501 9.56 SOX9 MATN3 COMP COL9A2 COL2A1 BMP7
23 positive regulation of chondrocyte proliferation GO:1902732 9.55 SOX9 COMP
24 anterior head development GO:0097065 9.54 SOX9 COL2A1
25 chondrocyte development GO:0002063 9.54 SOX9 COMP ACAN
26 mesenchyme development GO:0060485 9.52 BMP7 BMP2
27 extracellular matrix organization GO:0030198 9.44 TNR SOX9 MMP3 MMP13 MATN3 FBLN2

Molecular functions related to Osteochondritis Dissecans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.63 MMP13 MATN3 FBLN2 FBLN1 COMP ACAN
2 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.37 PRG4 ACAN
3 proteoglycan binding GO:0043394 9.32 COMP COL2A1
4 extracellular matrix structural constituent GO:0005201 9.28 MATN3 FBLN2 FBLN1 COMP COL9A3 COL9A2
5 BMP receptor binding GO:0070700 9.26 BMP7 BMP2
6 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL9A3 COL9A2 COL9A1 COL2A1

Sources for Osteochondritis Dissecans

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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