OSCDP
MCID: OST062
MIFTS: 47

Osteoarthritis with Mild Chondrodysplasia (OSCDP)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Osteoarthritis with Mild Chondrodysplasia

MalaCards integrated aliases for Osteoarthritis with Mild Chondrodysplasia:

Name: Osteoarthritis with Mild Chondrodysplasia 57 72 36 13
Namaqualand Hip Dysplasia 57 72 29 6
Oscdp 57 72
Nhd 57 72
Mild Spondyloepiphyseal Dysplasia Due to Col2a1 Mutation with Early-Onset Osteoarthritis 58
Osteoarthritis, with Mild Chondrodysplasia 39
Namaqualand Hip Dysplasia; Nhd 57
Degenerative Polyarthritis 70
Osteoarthritis 44

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of osteoarthritis in teens to early adulthood


HPO:

31
osteoarthritis with mild chondrodysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 604864
KEGG 36 H00445
ICD10 via Orphanet 33 Q77.7
Orphanet 58 ORPHA93279
UMLS 70 C0029408

Summaries for Osteoarthritis with Mild Chondrodysplasia

UniProtKB/Swiss-Prot : 72 Osteoarthritis with mild chondrodysplasia: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage.

MalaCards based summary : Osteoarthritis with Mild Chondrodysplasia, also known as namaqualand hip dysplasia, is related to osteoarthritis and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, and has symptoms including tremor, back pain and angina pectoris. An important gene associated with Osteoarthritis with Mild Chondrodysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). The drugs Ibuprofen and Buprenorphine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are joint stiffness and beaking of vertebral bodies

KEGG : 36 The disease is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1).

More information from OMIM: 604864

Related Diseases for Osteoarthritis with Mild Chondrodysplasia

Diseases related to Osteoarthritis with Mild Chondrodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 738)
# Related Disease Score Top Affiliating Genes
1 osteoarthritis 12.1
2 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 11.7
3 loeys-dietz syndrome 3 11.6
4 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.6
5 czech dysplasia 11.5
6 familial osteochondritis dissecans 11.4
7 beukes hip dysplasia 11.3
8 chondrocalcinosis 1 11.2
9 arthritis 11.2
10 rheumatoid arthritis 11.2
11 developmental dysplasia of the hip 1 11.1
12 pseudoachondroplasia 11.1
13 plica syndrome 11.1
14 synovitis 11.1
15 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.0
16 spondylosis 11.0
17 ehlers-danlos syndrome, classic-like, 2 11.0
18 exostosis 11.0
19 loeys-dietz syndrome 11.0
20 spondyloepiphyseal dysplasia tarda, x-linked 11.0
21 fibromyalgia 11.0
22 diastrophic dysplasia 11.0
23 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.9
24 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.9
25 digital arthropathy-brachydactyly, familial 10.9
26 cartilage disease 10.9
27 chronic pain 10.9
28 alkaptonuria 10.9
29 ochronosis 10.9
30 hypophosphatemia 10.8
31 ehlers-danlos syndrome 10.8
32 osteoporosis 10.8
33 bone mineral density quantitative trait locus 8 10.8
34 bone mineral density quantitative trait locus 15 10.8
35 rapidly involuting congenital hemangioma 10.8
36 occipital neuralgia 10.8
37 angel-shaped phalangoepiphyseal dysplasia 10.8
38 stickler syndrome, type i 10.8
39 endosteal hyperostosis, autosomal dominant 10.8
40 kniest dysplasia 10.8
41 osteomesopyknosis 10.8
42 osteopetrosis, autosomal dominant 2 10.8
43 spondyloepiphyseal dysplasia tarda, autosomal dominant 10.8
44 spondylometaphyseal dysplasia, kozlowski type 10.8
45 desbuquois dysplasia 1 10.8
46 spondyloepimetaphyseal dysplasia, missouri type 10.8
47 epiphyseal dysplasia, multiple, 5 10.8
48 stickler syndrome, type i, nonsyndromic ocular 10.8
49 developmental dysplasia of the hip 2 10.8
50 saul-wilson syndrome 10.8

Comorbidity relations with Osteoarthritis with Mild Chondrodysplasia via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Acute Cystitis
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Hypothyroidism
Osteoporosis Schizophreniform Disorder

Graphical network of the top 20 diseases related to Osteoarthritis with Mild Chondrodysplasia:



Diseases related to Osteoarthritis with Mild Chondrodysplasia

Symptoms & Phenotypes for Osteoarthritis with Mild Chondrodysplasia

Human phenotypes related to Osteoarthritis with Mild Chondrodysplasia:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 31 HP:0001387
2 beaking of vertebral bodies 31 HP:0004568
3 short stature 31 HP:0004322
4 platyspondyly 31 HP:0000926
5 irregular vertebral endplates 31 HP:0003301
6 hip osteoarthritis 31 HP:0008843
7 knee osteoarthritis 31 HP:0005086
8 heberden's node 31 HP:0012313
9 schmorl's node 31 HP:0030041

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
joint stiffness
osteoarthritis (hips, knees, shoulders, wrists, hands)

Growth Height:
decreased height compared to unaffected siblings

Skeletal Spine:
mild platyspondyly
irregular endplates
schmorl's nodes
anterior wedging

Skeletal Hands:
enlarged mcp joints
enlarged pip and dip joints
heberden's nodes

Clinical features from OMIM®:

604864 (Updated 05-Apr-2021)

UMLS symptoms related to Osteoarthritis with Mild Chondrodysplasia:


tremor; back pain; angina pectoris; sciatica; equilibration disorder; muscle cramp

Drugs & Therapeutics for Osteoarthritis with Mild Chondrodysplasia

Drugs for Osteoarthritis with Mild Chondrodysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 511)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 4 15687-27-1 3672
2
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 644073 40400
3
Glucosamine Approved, Investigational Phase 4 3416-24-8 439213
4
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
5
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
6
Thrombin Approved, Investigational Phase 4
7
Chlorzoxazone Approved Phase 4 95-25-0 2733
8
Tranexamic Acid Approved Phase 4 1197-18-8 5526
9
Dalteparin Approved Phase 4 9005-49-6
10
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
11
Rivaroxaban Approved Phase 4 366789-02-8
12
Enoxaparin Approved Phase 4 9005-49-6 772
13
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
14
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
15
Liraglutide Approved Phase 4 204656-20-2 44147092
16
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
17
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
18
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
19
Demeclocycline Approved Phase 4 127-33-3 5311063
20
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
21
Infliximab Approved Phase 4 170277-31-3
22
Methylene blue Approved, Investigational Phase 4 61-73-4
23
Indian frankincense Approved, Experimental, Investigational Phase 4
24
Remifentanil Approved Phase 4 132875-61-7 60815
25
Aceclofenac Approved, Investigational Phase 4 89796-99-6 71771
26
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
27
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
28
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
29
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
30
Nabumetone Approved Phase 4 42924-53-8 4409
31
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
32
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
33
Promethazine Approved, Investigational Phase 4 60-87-7 4927
34
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
35
Nimesulide Approved, Investigational, Withdrawn Phase 4 51803-78-2 4495
36
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
37
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
38 Orange Approved Phase 4
39
parecoxib Approved Phase 4 198470-84-7
40
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
41
Zolpidem Approved Phase 4 82626-48-0 5732
42
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
43
Cefuroxime Approved Phase 4 55268-75-2 5361202 5479529
44
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
45
Hyoscyamine Approved Phase 4 101-31-5 64692
46
Povidone-iodine Approved Phase 4 25655-41-8
47
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
48
Colchicine Approved Phase 4 64-86-8 6167 2833
49
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
50
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754

Interventional clinical trials:

(show top 50) (show all 3958)
# Name Status NCT ID Phase Drugs
1 Viscosupplementation in Patients With Severe Osteoarthritis of the Knee Unknown status NCT03090698 Phase 4 Hylan G-F 20;Triamcinolone
2 A Single-Blind Prospective Parallel Control Group Pilot Study to Assess the Effect of Hylan G-F 20 (Synvisc) Supplementation on Cartilage Preservation in Osteoarthritis of the Knee Unknown status NCT00393393 Phase 4 intra-articular injection of Hylan G-F 20
3 A Double-Blind, Placebo-Controlled, Crossover Pilot Study of the Efficacy of Celecoxib 200 Mg Qd in Relieving Pain and Walking Dysfunction in Osteoarthritis of the Knee Unknown status NCT00194090 Phase 4 celecoxib
4 Corticosteroids as Additive in Arthrocentesis of the Temporomandibular Joint: Double Blind, Randomised Controlled Trial of Effectiveness. Unknown status NCT01275014 Phase 4 Dexamethasone;Isotonic saline
5 The Influence of Hyaluronic Acid Injection Following Knee Arthroscopy Unknown status NCT02640144 Phase 4 Sodium Hyaluronate 1%;Placebo
6 Investigating the Use of a Cryopneumatic Therapy Device in Primary Total Knee Arthroplasty Patients Unknown status NCT00712816 Phase 4
7 Additional Therapeutic Effects of Dextrose to Hyaluronic Acid on Knee Osteoarthritis: a Double Blind, Randomized-controlled Clinical Trial Unknown status NCT03238183 Phase 4 dextrose
8 Additional Therapeutic Effects of Triamcinolone to Hyaluronic Acid on Knee Osteoarthritis: A Double Blind, Randomized-controlled Clinical Trial Unknown status NCT02949466 Phase 4 Triamcinolone
9 Comparison of Therapeutic Effects of Hyaluronic Acid vs. Hyaluronic Acid Combined Corticosteroid on Knee Osteoarthritis: A Double Blind, Randomized-controlled Clinical Trial Unknown status NCT02625727 Phase 4
10 Comparing Clinical Outcome of 2 Different Total Knee Prostheses: Nexgen LPS-Flex and AGC Unknown status NCT00294528 Phase 4
11 Intra-Articular Injections of Hyaluronan Versus 20 Ml NaCl Versus Placebo in Treatment of Knee Osteoarthritis: a Randomised, Double-Blind, Placebo Controlled Single Centre Trial. Unknown status NCT00144820 Phase 4 Injection of Hyaluronan or Saline
12 A Randomized, Double Blind, Single Simulation, Parallel Controlled, Multi-center Clinical Study of Guli Capsules in the Treatment of Knee Osteoarthritis Unknown status NCT02484508 Phase 4 Guli capsule;Kangguzengsheng capsule
13 Intra-articular Botulinum Toxin Type A Versus Corticosteroids: a Clinical Trial in Osteoarthritis of Knees Unknown status NCT02829281 Phase 4 Botulinum Toxin Type A;Triamcinolone hexacetonide;Saline
14 Randomized, Double-blind, Placebo-controlled Study to Asses the Effect of Chondroitin Sulphate in Patients With Knee Osteoarthritis by Functional Magnetic Resonance Imaging Unknown status NCT01226615 Phase 4 Chondroitin sulphate (Condrosan®);Placebo
15 Evaluation of the Evolution of Imaging Markers of Cartilage Degradation in Patients With Knee Osteoarthritis Receiving DROGLICAN: a Pilot Study Unknown status NCT02821468 Phase 4 Droglican;Paracetamol or oral NSAIDs excluding COX2 inhibitors
16 Pre-emptive Effect of Duloxetine in the Second Knee in Staged Total Knee Arthroplasty: A Randomized Controlled Study Unknown status NCT03792828 Phase 4 Duloxetine HCl 30mg
17 Influence of Perception of Patients Suffering of Osteoarthritis of Knee Over the Effectiveness and Tolerance in Intra-articular Injection of Corticoids: a Prospective, Controlled and Randomized Study Unknown status NCT02835521 Phase 4 Joint injection with triamcinolone hexacetonide
18 The Effects of Tourniquet Reinflation After Early Tourniquet Release in Total Knee Arthroplasty Unknown status NCT01832272 Phase 4
19 Effect of Preoperative Ferric Carboxymaltose After Simultaneous Bilateral Total Knee Arthroplasty : A Randomized, Controlled, Double-Blind Trial Unknown status NCT03561506 Phase 4 Ferric carboxymaltose;0.9% Normal Saline
20 Effect of Postoperative Ferric Carboxymaltose After Simultaneous Bilateral Total Knee Arthroplasty : A Randomized, Controlled, Double-Blind Trial Unknown status NCT03561480 Phase 4 Ferric carboxymaltose;0.9% Normal Saline
21 Effect of Preoperative Intravenous Dexamethasone on Postoperative Pain After Primary Total Hip Arthroplasty : A Prospective, Double-blind, Randomized Controlled Trial Unknown status NCT03542617 Phase 4 Dexamethasone;Normal Saline Solution
22 A Multicentre, Randomized, Double-blinded, Parallel-controlled, Non-inferiority Clinical Study Of Safety and Efficacy Of Medical Chitosan for Knee Osteoarthritis Compared With Sodium Hyaluronate Injection Unknown status NCT02323451 Phase 4 Sodium Hyaluronate Injection
23 Serial Use of Intravenous and Oral Tranexamic Acid in Primary Total Knee Arthroplasty Patients: A Randomized Controlled Study Unknown status NCT03109652 Phase 4 Tranexamic Acid
24 A Multi-center, Randomized, Open-label, Parallel-arm Controlled Study Comparing Demand-based Monotherapy of Non-steroidal Anti-inflammatory Drug (NSAID) vs. Demand-based NSAID Combined With Sodium Hyaluronate Injection in the Treatment of Chinese Patients With Mild to Moderate Knee Osteoarthritis Unknown status NCT02826031 Phase 4 Sodium Hyaluronate Injection;DICL-SR
25 A Multicenter,Open-label Phase Ⅳ Trial of Imrecoxib in Treatment of Knee Osteoarthritis Unknown status NCT01985165 Phase 4 Imrecoxib
26 Comparison of Floseal® and Tranexamic Acid on Bleeding Control After Total Knee Arthroplasty - Randomized Prospective Study Unknown status NCT02152917 Phase 4 Tranexamic acid;Floseal®
27 A Prospective, Randomized, Double-blinded, Multi-center, Trial to Evaluate Efficacy and Safety of Combination of Diacerein and Celecoxib Administered Orally in Patients With Knee Osteoarthritis Unknown status NCT03404479 Phase 4 Diacerein;Celecoxib
28 The Biomechanical Impact of Intra-Articular Hyaluronic Acid in Knee Osteoarthritis Patients: A Randomized, Double Blind, Placebo Controlled Study Unknown status NCT00778076 Phase 4
29 Intraarticular Xylitol Injections for Knee Osteoarthritis Unknown status NCT02104596 Phase 4
30 A Double-blind, Randomized, Controlled, Equivalence Study Comparing Intra-articular Corticosteroid to Intra-articular Ketorolac Knee Injections Unknown status NCT02612272 Phase 4 Ketorolac;Betamethasone
31 Comparison of Single Intra-articular Injection of Hyruan-One With Hylan G-F 20 in Knee Osteoarthritis: A Randomized Double-blind, Saline-controlled Trial Unknown status NCT03484091 Phase 4 Hyruan-One;Hylan G-F 20;Normal saline
32 Outcome Comparison of Allogenic Cancellous Bone and a New Synthetic Bone Substitute (geneX®) in Filling the Bone Defect Created With Medial Open Wedge High Tibial Osteotomy Unknown status NCT02000297 Phase 4
33 The Effect of Glucosamine Sulphate on Structural Disease Progression in Knee Osteoarthritis and the Cost-effectiveness of Glucosamine Sulphate for Knee Arthritis. Unknown status NCT00513422 Phase 4
34 Double-blind, Randomised, Placebo-controlled Clinical Trial to Evaluate the Efficacy and Safety of the Combination of Chondroitin Sulphate and Glucosamine Hydrochloride in Patients With Hand Osteoarthritis Unknown status NCT02823548 Phase 4 Droglican;Placebo
35 Prospective, Single Arm, Pilot Study Evaluating the Safety and Efficacy of Hyaluronan (Hylan GF-20) in Patients With Painful Shoulder Osteoarthritis Unknown status NCT00253799 Phase 4
36 Effect of Opioids and NSAIDs on Sympathetic Nervous System and Vascular Function in Healthy Subjects and Patients With Osteoarthritis Unknown status NCT03781544 Phase 4 Tramadol;Paracetamol;Diclofenac
37 Effect of Flex-a-New on Osteoarthritis of the Knee Unknown status NCT00294801 Phase 4 flex-a-new (food supplement)
38 A Prospective, Randomized, Double-blinded, Double-dummy, Active-controlled, Multi-center, Interventional Study to Compare Gastro-protective Effect and Pain Relief Effect of Naxozol Compared to Celecoxib in Patients With Osteoarthritis Unknown status NCT02355236 Phase 4 Naproxen/Esomeprazol 500/20mg;Celecoxib 200mg;Naxozol-Placebo;Comparator-Placebo
39 Assessment of a Knee Brace in Patients With Osteoarthritis Unknown status NCT02706106 Phase 4
40 A Double-Blind, Placebo-Controlled, Enriched Enrollment Randomized Withdrawal Study to Evaluate the Efficacy of Milnacipran in the Treatment of Pain Due to Osteoarthritis Unknown status NCT01329406 Phase 4 Milnacipran;Placebo
41 Comparison of Topical Tranexamic Acid and Floseal® on Blood Loss After Total Knee Arthroplasty in Patients With a Thromboembolic Risk Unknown status NCT02865174 Phase 4 Topical tranexamic acid;Floseal®;Enoxaparin
42 Effects of Perioperative Intravenous Dexamethasone on the Severity of Persistent Postsurgical Pain After Total Knee Arthroplasty : A Prospective, Randomized, Double-blind, Placebo-controlled Trial Unknown status NCT02760459 Phase 4 Dexamethasone;Normal saline solution
43 A Randomized Trial Comparing Navigated and Conventional Implantation Techniques in Knee Replacement Surgery. Influence on Operative Result, Health-Related Quality of Life, and Coordinative Abilities. Unknown status NCT00431509 Phase 4
44 A Randomized Controlled Trial of Long Versus Short Wait For Primary Total Hip and Knee Arthroplasty Unknown status NCT00138892 Phase 4
45 A Post-marketing Surveillance to Evaluate the Efficacy and Safety of CHONDRON (Autologous Cultured Chondrocyte) Through Arthroscopy in Patients With Knee Cartilage Defects Unknown status NCT02539069 Phase 4
46 Phase IV Study - Prophecy Guide Outcomes in Total Knee Replacement Surgery Unknown status NCT01163708 Phase 4
47 The Effect of Intraaricular Knee Injections of Hyaluronic Acid (HA) on Bone and Cartilaginous Debris, as a Therapeutic Indicator Unknown status NCT00422643 Phase 4 Sodium hyaluronate (hyaluronic acid)
48 Does Intraoperative Intravenous Iron Sucrose Enhance Postoperative Oxygenation Profile in Total Arthroplasty Surgery? Unknown status NCT02544828 Phase 4 Iron Sucrose 200mg;placebo
49 This Post-marketing Surveillance to Evaluate the Efficacy and Safety of a CHONDRON (Autologous Cultured Chondrocyte) in Patients With Cartilage Defects in Their Knees. Unknown status NCT02539056 Phase 4
50 Hip Viscosupplementation: What is the Best Dosage? Unknown status NCT01810809 Phase 4 1 ampoule of Hylan GF-20;2 ampoules of Hylan GF-20;3 ampoules of Hylan GF-20

Search NIH Clinical Center for Osteoarthritis with Mild Chondrodysplasia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


ACETYLSALICYLATE SODIUM
Aspirin
ASPIRIN PWDR
celecoxib
choline salicylate
Chondroitin
CHONDROITIN SODIUM
Chondroitin Sulfates
Diclofenac
Diclofenac Potassium
Diclofenac Sodium
Diflunisal
Etodolac
Fenoprofen
Fenoprofen Calcium
Flurbiprofen
Flurbiprofen sodium
Glucosamine
HYLAN G-F 20
Ibuprofen
Indomethacin
INDOMETHACIN PWDR
INDOMETHACIN SODIUM
Ketoprofen
KETOPROFEN PWDR
meloxicam
nabumetone
Naproxen
Naproxen sodium
oxaprozin
Piroxicam
rofecoxib
solufenum
Sulindac
Tolmetin
Tolmetin Sodium
valdecoxib

Cochrane evidence based reviews: osteoarthritis

Genetic Tests for Osteoarthritis with Mild Chondrodysplasia

Genetic tests related to Osteoarthritis with Mild Chondrodysplasia:

# Genetic test Affiliating Genes
1 Namaqualand Hip Dysplasia 29 COL2A1

Anatomical Context for Osteoarthritis with Mild Chondrodysplasia

MalaCards organs/tissues related to Osteoarthritis with Mild Chondrodysplasia:

40
Bone, Bone Marrow, Liver, Whole Blood, Brain, Cortex, Skeletal Muscle

Publications for Osteoarthritis with Mild Chondrodysplasia

Articles related to Osteoarthritis with Mild Chondrodysplasia:

(show all 13)
# Title Authors PMID Year
1
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis. 57 6
7757086 1995
2
Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519. 57 6
8507190 1993
3
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. 57 6
1975693 1990
4
Namaqualand hip dysplasia: an autosomal dominant entity. 57 61
6496567 1984
5
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders. 6
9711874 1998
6
Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1. 57
1671807 1991
7
Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia. 6
1985108 1991
8
Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. 57
2300123 1990
9
Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated. 61
33404007 2020
10
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. 61
31755234 2020
11
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia. 61
32071555 2020
12
A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. 61
15476249 2004
13
Namaqualand hip dysplasia. Orthopedic implications. 61
3568474 1987

Variations for Osteoarthritis with Mild Chondrodysplasia

ClinVar genetic disease variations for Osteoarthritis with Mild Chondrodysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) SNV Pathogenic 17353 rs121912865 GRCh37: 12:48376669-48376669
GRCh38: 12:47982886-47982886
2 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
3 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
4 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
5 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
6 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437

UniProtKB/Swiss-Prot genetic disease variations for Osteoarthritis with Mild Chondrodysplasia:

72
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Arg719Cys VAR_001748 rs121912865

Expression for Osteoarthritis with Mild Chondrodysplasia

Search GEO for disease gene expression data for Osteoarthritis with Mild Chondrodysplasia.

Pathways for Osteoarthritis with Mild Chondrodysplasia

GO Terms for Osteoarthritis with Mild Chondrodysplasia

Sources for Osteoarthritis with Mild Chondrodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....