IDD
MCID: INT146
MIFTS: 61

Intervertebral Disc Disease (IDD)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Intervertebral Disc Disease

MalaCards integrated aliases for Intervertebral Disc Disease:

Name: Intervertebral Disc Disease 57 19 42 73 53 38
Intervertebral Disc Disorder 42 28 5 71
Lumbar Disc Disease 57 73 53 71
Intervertebral Disc Disease, Susceptibility to 57 12 5
Lumbar Disc Degeneration 57 73 16
Lumbar Disc Herniation 57 73 16
Idd 57 42 73
Lumbar Disc Herniation, Susceptibility to 57 5
Lumbar Disc Disease, Susceptibility to 57 5
Intervertebral Disc Degeneration 42 71
Lumbar Disc Degeneration, Susceptibility to 5
Degeneration of Lumbar Intervertebral Disc 71
Intervertebral Disk Degeneration 42
Intervertebral Disk Displacement 71
Disorder of Intervertebral Disc 42
Intervertebral Disk Disease 73
Discogenic Disorder 42
Intervertebral Disc 75
Discogenic Disease 42
Ldd 73
Ldh 73

Classifications:



External Ids:

OMIM® 57 603932
ICD10 31 M51.8 M51.9
UMLS 71 C0021818 C0158252 C0158266 more

Summaries for Intervertebral Disc Disease

MedlinePlus Genetics: 42 Intervertebral disc disease is a common condition characterized by the breakdown (degeneration) of one or more of the discs that separate the bones of the spine (vertebrae), causing pain in the back or neck and frequently in the legs and arms. The intervertebral discs provide cushioning between vertebrae and absorb pressure put on the spine.While the discs in the lower (lumbar) region of the spine are most often affected in intervertebral disc disease, any part of the spine can have disc degeneration. Depending on the location of the affected disc or discs, intervertebral disc disease can cause periodic or chronic pain in the back or neck. Pain is often worse when sitting, bending, twisting, or lifting objects.Degenerated discs are prone to out-pouching (herniation); the protruding disc can press against one of the spinal nerves that run from the spinal cord to the rest of the body. This pressure causes pain, weakness, and numbness in the back and legs. Herniated discs often cause nerve pain called sciatica that travels along the sciatic nerve, which runs from the lower back down the length of each leg.As a disc degenerates, small bony outgrowths (bone spurs) may form at the edges of the affected vertebrae. These bone spurs may pinch (compress) the spinal nerves, leading to weakness or numbness in the arms or legs. If the bone spurs compress the spinal cord, affected individuals can develop problems with walking and bladder and bowel control. Over time, a degenerating disc may break down completely and leave no space between vertebrae, which can result in impaired movement, pain, and nerve damage.

MalaCards based summary: Intervertebral Disc Disease, also known as intervertebral disc disorder, is related to degenerative disc disease and back pain, and has symptoms including sciatica An important gene associated with Intervertebral Disc Disease is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are Signal Transduction and Phospholipase-C Pathway. The drugs Donepezil and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and bone marrow, and related phenotypes are limbs/digits/tail and hearing/vestibular/ear

OMIM®: 57 Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants (Matsui et al., 1998; Battie et al., 1995; Sambrook et al., 1999). (603932) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.

Wikipedia: 75 An intervertebral disc (or intervertebral fibrocartilage) lies between adjacent vertebrae in the... more...

Related Diseases for Intervertebral Disc Disease

Diseases related to Intervertebral Disc Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 901)
# Related Disease Score Top Affiliating Genes
1 degenerative disc disease 30.7 IL1B COL9A3 CILP BMP2
2 back pain 30.5 THBS2 IL1B COL9A3
3 cartilage disease 30.1 IL1B BMP2
4 osteochondritis dissecans 30.0 COL9A3 COL9A2 BMP2
5 osteochondrosis 29.9 VDR COL9A3 COL9A2 BMP2
6 spondylolisthesis 29.8 COL9A3 COL9A2 BMP2
7 amebiasis 29.7 IL1B COL1A1
8 spondylosis 29.7 VDR IL1B BMP2
9 decubitus ulcer 29.7 MMP9 IL1B
10 osteoarthritis 29.6 MMP9 IL1B COL9A3 COL9A2 CILP BMP2
11 syringomyelia 29.5 VDR COL1A1
12 periodontitis 29.3 VDR MMP9 IL1B
13 retinal detachment 29.3 MMP9 COL9A3 COL9A2 COL11A1
14 pulmonary fibrosis 29.3 MMP9 IL1B COL1A1
15 keratoconus 29.3 MMP9 IL1B COL1A1
16 spinal stenosis 29.2 THBS2 COL9A3 COL9A2 COL1A1 COL11A1
17 osteonecrosis 29.2 VDR MMP9 BMP2
18 brittle bone disorder 29.1 COL9A2 COL1A1 COL11A1 BMP2
19 osteochondrodysplasia 29.1 COL9A3 COL9A2 COL1A1 COL11A1 BMP2
20 bone disease 28.9 VDR MMP9 COL1A1 BMP2
21 osteoporosis 28.8 VDR MMP9 IL1B COL1A1 BMP2
22 connective tissue disease 28.7 MMP9 IL1B COL9A3 COL1A1 COL11A1 BMP2
23 glycogen storage disease due to lactate dehydrogenase deficiency 11.4
24 cowden syndrome 1 11.4
25 loeys-dietz syndrome 3 11.4
26 lactate dehydrogenase b deficiency 11.4
27 spondyloepiphyseal dysplasia with congenital joint dislocations 11.3
28 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.2
29 lymphoma, hodgkin, classic 11.0
30 cauda equina syndrome 11.0
31 glanders 11.0
32 lactate dehydrogenase deficiency 11.0
33 congenitally corrected transposition of the great arteries 11.0
34 fanconi-bickel syndrome 11.0
35 malignant dysgerminomatous germ cell tumor of the ovary 11.0
36 discitis 10.6
37 spinal disease 10.6
38 foot drop 10.6
39 48,xyyy 10.6
40 pik3ca-related overgrowth spectrum 10.5
41 pik3ca-related overgrowth syndrome 10.5
42 bone mineral density quantitative trait locus 8 10.5
43 torticollis 10.5
44 neural tube defects 10.5
45 meningocele 10.5
46 paresthesia 10.5
47 lipodystrophy, partial, acquired 10.4
48 spondylitis 10.4
49 body mass index quantitative trait locus 1 10.4
50 iron metabolism disease 10.4

Comorbidity relations with Intervertebral Disc Disease via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchitis
Deficiency Anemia Esophagitis
Heart Disease Hypertension, Essential
Osteoporosis

Graphical network of the top 20 diseases related to Intervertebral Disc Disease:



Diseases related to Intervertebral Disc Disease

Symptoms & Phenotypes for Intervertebral Disc Disease

Clinical features from OMIM®:

603932 (Updated 08-Dec-2022)

UMLS symptoms related to Intervertebral Disc Disease:


sciatica

MGI Mouse Phenotypes related to Intervertebral Disc Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.7 BMP2 COL11A1 COL1A1 COL9A2 MMP9 THBS2
2 hearing/vestibular/ear MP:0005377 9.5 ASPN BMP2 COL11A1 COL1A1 COL9A2 COL9A3
3 skeleton MP:0005390 9.23 BMP2 COL11A1 COL1A1 COL9A2 IL1B MMP9

Drugs & Therapeutics for Intervertebral Disc Disease

Drugs for Intervertebral Disc Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4 120014-06-4 3152
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Tramadol Approved, Investigational Phase 4 27203-92-5 33741 5523
4
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
5
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
6
Morphine Approved, Investigational Phase 4 57-27-2 5288826
7
Duloxetine Approved Phase 4 136434-34-9, 116539-59-4 60835
8
Norepinephrine Approved Phase 4 51-41-2 439260
9
Magnesium sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9
10
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
11
Cefuroxime Approved Phase 4 55268-75-2 5479529
12
Remifentanil Approved Phase 4 132875-61-7 60815
13
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
14
Eplerenone Approved Phase 4 107724-20-9 443872
15
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
16
Ibuprofen Approved Phase 4 15687-27-1 3672
17
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
18
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
19
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
20
Acetaminophen Approved Phase 4 103-90-2 1983
21
Naproxen Approved, Vet_approved Phase 4 22204-53-1 156391 1302
22
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
24 Nootropic Agents Phase 4
25 Cholinesterase Inhibitors Phase 4
26 Cholinergic Agents Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Anti-Arrhythmia Agents Phase 4
29 Analgesics, Opioid Phase 4
30 Narcotics Phase 4
31 Anesthetics, General Phase 4
32 Dopamine Agents Phase 4
33 Anti-Bacterial Agents Phase 4
34 Anti-Infective Agents Phase 4
35 Antibiotics, Antitubercular Phase 4
36 Antidepressive Agents Phase 4
37 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
38 Anesthetics, Intravenous Phase 4
39 Hypnotics and Sedatives Phase 4
40 Tocolytic Agents Phase 4
41
Cefuroxime axetil Phase 4 3379942
42 Sympathomimetics Phase 4
43 Epinephryl borate Phase 4
44 Bronchodilator Agents Phase 4
45 Adrenergic beta-Agonists Phase 4
46 Anti-Asthmatic Agents Phase 4
47 Vasoconstrictor Agents Phase 4
48 Respiratory System Agents Phase 4
49 Mydriatics Phase 4
50 diuretics Phase 4

Interventional clinical trials:

(show top 50) (show all 702)
# Name Status NCT ID Phase Drugs
1 Post Market Non-Inferiority Study Comparing Triojection® to Discectomy for Lumbar Disc Herniation Unknown status NCT02525120 Phase 4
2 Clinical Investigation of NanoFUSE® Bioactive Matrix and Autogenous Bone in Posterolateral Spinal Fusion (Nonloadbearing) Unknown status NCT03751943 Phase 4
3 Efficiency of Donepezil in Elderly Patients Undergoing Orthopedic Surgery Due to Underlying Postoperative Cognitive Dysfunction, a Multicenter Randomized Controlled Trial Unknown status NCT04423276 Phase 4 Donepezil;Placebo
4 A Prospective Randomized Trails for Primary Disc Herniation With Radiculopathy:Conservative Versus Aggressive Discectomy Unknown status NCT01204008 Phase 4
5 A Consecutive Case Series of One-Level Lumbar Fusions With Pedicle Screw Instrumentation and the Trabecular Metal™ Intervertebral Cage Using Roentgen Stereophotogrammetric Analysis (RSA) Completed NCT00493558 Phase 4
6 Comparison of Perioperative Outcome Between Corticosteroids and Placebo in Transforaminal Endoscopic Lumbar Discectomy. A Single-center Randomized Placebo-controlled Trial. Completed NCT03273036 Phase 4 40 mg Triamcinolone acetate 1 cc;Placebos
7 Randomized Controlled Comparison of the Erector Spina Plane Block and Modified Thoracolumbar Interfacial Plane Block and Intravenous Patient Controlled Analgesia in Patients Undergoing Lumbar Disc Surgery Completed NCT04457986 Phase 4 Erector spina plane block (ESP);Modified thoracolumbar interfacial plane block (MTI);Intravenous patient controlled analgesia (IV-PCA)
8 Duloxetine as an Analgesic Agent in Patients Undergoing Elective Spine Surgery Completed NCT02535000 Phase 4 Duloxetine;Placebo
9 Clinical and Radiographic Outcomes of BIO4 Bone Matrix in Patients Undergoing 1 or 2-Level Anterior Cervical Discectomy and Fusion Surgery Completed NCT03077204 Phase 4
10 Evaluation of Fusion Rate of Anterior Cervical Discectomy and Fusion (ACDF) Using Cervios ChronOs™ and Bonion™ Completed NCT01615328 Phase 4
11 Comparison of Internal Disc Decompression (IDD) vs. a Standardized Non-surgical Treatment Program for Chronic Low Back Pain Secondary to Mild to Moderate Degenerative Disc Disease (DDD) Completed NCT00165893 Phase 4
12 A Prospective, Multi-Center, Post-Market Surveillance Study to Assess the Clinical Efficacy and Fusion Rates of the Zimmer TM Ardis Interbody Fusion System Completed NCT02429908 Phase 4
13 Opioid Treatment for Chronic Low Back Pain and the Impact of Mood Symptoms Completed NCT01502644 Phase 4 Oxycodone;Morphine;Placebo
14 Analgetic and Anxiolytic Effect of Preoperative Pregabalin in Patients Undergoing Surgery of the Vertebral Columna Completed NCT00353704 Phase 4 pregabalin;Placebo;morphine
15 Spine Patient Outcomes Research Trial (SPORT): A Multicenter Randomized Trial for Intervertebral Disc Herniation (IDH) Completed NCT00000410 Phase 4
16 Role Of Pregabalin To Decrease Postoperative Pain In Microdiscectomy: A Randomized Clinical Trial Completed NCT04653792 Phase 4 Pregabalin 75mg
17 Does Continuous Perioperative Dexmedetomidine Infusion Reduce Time to Discharge in Patients Undergoing Major Lumbar Fusion? A Double-Blind, Placebo-Controlled Study Completed NCT00808665 Phase 4 Dexmedetomidine;0.9% Saline
18 Comparison of the Effects of Three Methods of Intrathecal Bupivacaine; Bupivacaine-Fentanyl and Bupivacaine-Fentanyl-Magnesium Sulfate on Sensory-Motor Blocks and Postoperative Pain in Patients Undergoing Lumbar Disk Herniation Surgery Completed NCT01843296 Phase 4 Magnesium Sulfate;Bupivacaine;Fentanyl
19 Prospective, Double-Blind, Randomized, Placebo-Controlled Trial of Single-Dose Cefuroxime Prophylaxis in Herniated Disk Surgery Completed NCT00530400 Phase 4 cefuroxime;placebo
20 Efficacy of Pregabalin in Patients With Radicular Pain Completed NCT00908375 Phase 4 Pregabalin;Sugar Pill
21 The Effect Site Concentration of Remifentanil for Conscious Sedation During Awake Nasotracheal Fiberoptic Intubation Completed NCT01052324 Phase 4 Remifentanil
22 Efficacy of Amniotic Tissue (CLARIX 100 & CLARIX CORD 1K) in Pain Reduction and Improvement of Function in Low Back & Leg Pain in Discectomy Patients Completed NCT03113786 Phase 4
23 Does Liposomal Bupivacaine Improve Postoperative Pain Control After One Level Posterior Spinal Fusion With Instrumentation Recruiting NCT03745040 Phase 4 Liposomal bupivacaine
24 Erector Spinae Plane Block for Reduction of Early Postoperative Pain Scores and Opioid Use in Lumbar Spinal Fusion Surgery, a Prospective Double-blinded Randomized Placebo-controlled Trial Recruiting NCT05345249 Phase 4 Ropivacaine Hydrochloride Injection;Sodium chloride
25 Bilateral Ultrasound Guided Erector Spinae Plane Block for Postoperative Pain Management in Lumbar Spine Surgery ( a Controlled Study Trial) Recruiting NCT05247021 Phase 4
26 Subjective Intraoperative Use of Epidural Steroid Administration Following Discectomy for Herniated Lumbar Discs Is There a Role? - A Randomized Control Trial Recruiting NCT04182997 Phase 4 Dexamethasone;saline 0.9%
27 Transforaminal Epidural Steroid Injection in Lumbar Disc Prolpse: Impact on Pain Intensity and Cognitive Function in Relation to Micro RNA-155 Serum Level Recruiting NCT05626283 Phase 4 transforaminal epidural injection.
28 Randomized, Placebo-controlled Trial of Erector Spinae Plane Blocks (ESPB) for Perioperative Pain Management for Minimally Invasive (MIS) Lumbar Spine Surgery Recruiting NCT05029726 Phase 4 Bupivacaine-Epinephrine 0.25%-1:200,000 Injectable Solution plus clonidine;normal saline
29 Comparison of Rigid and Non-Rigid Interbody Fusion Device for Cervical Degenerative Disc Disease in Adults - A Randomized, Prospective, Multicenter Clinical Trial Recruiting NCT04550923 Phase 4
30 Orthokine Therapy in Lumbar Degenerative Disease: Does the Route of Administration Really Matter Recruiting NCT04734327 Phase 4
31 Epidural Steroid Injection With Supplemental Oral Eplerenone for Low Back Pain: A Prospective, Double Blind Randomized Trial Recruiting NCT03418649 Phase 4 Eplerenone 50 Mg Tab;Placebo Oral Tablet
32 A Prospective, Single Arm Study of Patients Undergoing Posterolateral Lumbar Fusion (Without Interbody) Supplemented With ViviGen Cellular Bone Matrix Recruiting NCT04007094 Phase 4 ViviGen Cellular Bone Matrix
33 Prospective Controlled Crossover Study of the Role of Pentoxifylline in the Management of Lumbar Radiculopathy Active, not recruiting NCT03060434 Phase 4 Pentoxifylline Oral Tablet;Ibuprofen
34 A Prospective, Randomized, Multicenter Study to Demonstrate the Superiority of the Barricaid® to Discectomy for Primary Lumbar Disc Herniation: Extended Follow-Up of the Barricaid® Annular Closure Device (ACD) Randomized Control Trial (RCT) Postmarket Cohort for Lumbar Disc Herniation and Interaction With Other Risk Factors Active, not recruiting NCT01283438 Phase 4
35 Percutaneous Transforaminal Endoscopic Discectomy (PTED) Versus Microendoscopic Discectomy (MED) for the Treatment of Lumbar Disc Herniation: A Prospective Randomized Controlled Study Active, not recruiting NCT01997086 Phase 4
36 A Post Marketing Surveillance Study To Monitor The Early Safety And Performance Of The BARRICAID® Anular Closure Device In The Treatment Of Radicular Pain Caused By Primary Lumbar Disc Herniation Active, not recruiting NCT03366779 Phase 4
37 A Comparison of the Long Term Outcomes of Prolotherapy Versus Interlaminar Epidural Steroid Injections (ESI) for Lumbar Pain Radiating to the Leg Active, not recruiting NCT01934868 Phase 4 prolotherapy solution of 20% dextrose;Epidural Steroid Injection
38 The Effectiveness of Cervical Transforaminal Epidural Steroid Injection for the Treatment of Cervical Radicular Pain: A Prospective Cohort Study. Active, not recruiting NCT04544683 Phase 4 Cervical Transforaminal Epidural Injection with dexamethasone sodium phosphate
39 Combined Administration of Bupivacaine and Exparel Versus Bupivacaine or Exparel Alone for Postoperative Analgesia in Posterior Lumbar Spine Surgery - A Prospective Randomized Study Terminated NCT03514277 Phase 4 Exparel;Bupivacaine
40 Single Center, Randomized PROspective Study Comparing Percutaneous HydroDiscectomy to Transforaminal Epidural Steroid Injections in the Treatment Of Radiculopathy Secondary to Lumbar Disc Herniation (PROPHESOR) Terminated NCT02414698 Phase 4 TESI
41 A Multi-Centre, Prospective, Randomized, Post Marketing Surveillance Study Comparing Cervical Arthroplasty to Anterior Cervical Discectomy and Fusion (ACDF) for the Treatment of Cervical Degenerative Disc Disease Terminated NCT00700739 Phase 4
42 Lumbar Interbody Fusion Using The Telamon® Peek™ Versus The Telamon® Hydrosorb™ Fusion Device - A Prospective, Randomized Controlled Trial To Assess Surgical And Clinical Outcomes Terminated NCT00095095 Phase 4
43 A Randomized Trial of CT-guided Perineural Injection With a Corticosteroid Plus a Long Acting Local Anesthetic Versus Standard Medical Management in Patients With Acute Lumbar Radiculopathy and a Corresponding Disc Herniation Terminated NCT01267825 Phase 4 CT-guided corticosteroid+ bupivicaine;Standard medical care
44 Efficacy Study Using Solum IV, Bone Marrow Concentrate With General Fluid Concentrate in Transforaminal Lumbar Interbody Fusion Withdrawn NCT03223701 Phase 4
45 Does Teicoplanin Powder Use In Lumbar Instrumentation Surgery Reduce Surgical Site Infection Unknown status NCT04341831 Phase 3 Teicoplanin
46 Percutaneous Lumbar Discectomy (PLD) Combined With Ozone Versus Percutaneous Lumbar Discectomy (PLD) for Treatment of Lumbar Disc Herniation:A Single-Blind Prospective Randomized Controlled Trial Unknown status NCT02372032 Phase 3
47 A Prospective Registry Study Evaluating the Safety and Efficacy of Fibrin for Chronic Multi-level Discogenic Low Back Pain Unknown status NCT04621799 Phase 2, Phase 3 Fibrin sealant
48 Study of Bone of Marrow Concentrate (BMC) Injection in Discs, Facets, Sacroiliac Joints, and Epidural Space for Chronic Lower Back Pain With and Without Radiculopathy Unknown status NCT04559295 Phase 2, Phase 3
49 Adalimumab (Anti TNF Alfa) in the Management of Acute Lumbar Disc Prolapses - a One Year, Randomized, Placebo Controlled, Double Blind, Single Center Trial Unknown status NCT01510548 Phase 3
50 A Study of SI-6603 in Patients With Lumbar Disc Herniation Completed NCT01941563 Phase 3 Condoliase;placebo

Search NIH Clinical Center for Intervertebral Disc Disease

Genetic Tests for Intervertebral Disc Disease

Genetic tests related to Intervertebral Disc Disease:

# Genetic test Affiliating Genes
1 Intervertebral Disc Disorder 28 ASPN CILP COL11A1 COL9A3 THBS2

Anatomical Context for Intervertebral Disc Disease

Organs/tissues related to Intervertebral Disc Disease:

MalaCards : Spinal Cord, Bone, Bone Marrow, Dorsal Root Ganglion, Brain, Placenta, Myeloid

Publications for Intervertebral Disc Disease

Articles related to Intervertebral Disc Disease:

(show top 50) (show all 8030)
# Title Authors PMID Year
1
A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. 53 62 57 5
15864306 2005
2
A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation. 62 57 5
18455130 2008
3
Association of the asporin D14 allele with lumbar-disc degeneration in Asians. 62 57 5
18304494 2008
4
A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. 62 57 5
17999364 2007
5
Identification of a novel common genetic risk factor for lumbar disk disease. 57 5
11308397 2001
6
Phenotypic and population differences in the association between CILP and lumbar disc disease. 53 62 57
17220213 2007
7
An allele of COL9A2 associated with intervertebral disc disease. 53 62 57
10411504 1999
8
Association between an aggrecan gene polymorphism and lumbar disc degeneration. 62 57
10626307 1999
9
Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. 62 57
10025932 1999
10
Familial predisposition for lumbar degenerative disc disease. A case-control study. 62 57
9589542 1998
11
Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese. 5
17024313 2006
12
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. 5
15640800 2005
13
Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. 57
7593075 1995
14
The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. 53 62
19569011 2009
15
Six-year outcomes of anterior lumbar interbody arthrodesis with use of interbody fusion cages and recombinant human bone morphogenetic protein-2. 53 62
19411467 2009
16
[Association of single nucleotide polymorphisms of IL-1b with lumbar disc disease]. 53 62
17681918 2007
17
Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. 53 62
16133074 2006
18
Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene. 53 62
16413503 2006
19
Association study of COL9A2 with lumbar disc disease in the Japanese population. 53 62
17024315 2006
20
Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. 53 62
15994869 2005
21
The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. 53 62
15167667 2004
22
Lumbar interbody fusion after treatment with recombinant human bone morphogenetic protein-2 added to poly(L-lactide-co-D,L-lactide) bioresorbable implants. 53 62
15198497 2004
23
Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. 53 62
14644861 2003
24
COL9A2 allelotypes in intervertebral disc disease. 53 62
11118298 2000
25
Delivery of coenzyme Q10 loaded micelle targets mitochondrial ROS and enhances efficiency of mesenchymal stem cell therapy in intervertebral disc degeneration. 62
36439087 2023
26
Multiple nano-drug delivery systems for intervertebral disc degeneration: Current status and future perspectives. 62
36439088 2023
27
Ion elemental-optimized layered double hydroxide nanoparticles promote chondrogenic differentiation and intervertebral disc regeneration of mesenchymal stem cells through focal adhesion signaling pathway. 62
36203960 2023
28
An esterase-responsive ibuprofen nano-micelle pre-modified embryo derived nucleus pulposus progenitor cells promote the regeneration of intervertebral disc degeneration. 62
36017070 2023
29
Chronic spinal cord compression associated with intervertebral disc degeneration in SPARC-null mice. 62
36018188 2023
30
3D-printed auxetic-structured intervertebral disc implant for potential treatment of lumbar herniated disc. 62
35846840 2023
31
Posterior reversible encephalopathy syndrome following spine surgery: A case report and review of the literature. 62
36471737 2023
32
The effects of Pilates on pain, functionality, quality of life, flexibility and endurance in lumbar disc herniation. 62
36453667 2022
33
Transforaminal Endoscopic Lumbar Discectomy versus Open Decompression Discectomy for Lumbar Disc Herniation. 62
36474374 2022
34
Favorable long-term outcome in young adults undergoing surgery for lumbar disc herniation. 62
36205789 2022
35
Early Clinical Efficacy of Endo-TLIF in the Treatment of Lumbar Disc Herniation. 62
35468646 2022
36
Does the sagittal spinal profile differ between the elderly Chinese populations with and without lumbar disc herniation? 62
35370067 2022
37
Neuropeptide Y and receptors are associated with the pyroptosis of nucleus pulposus in aging and degenerative intervertebral discs of rats. 62
36027700 2022
38
Nucleus pulposus cells degeneration model: a necessary way to study intervertebral disc degeneration. 62
36472394 2022
39
Red Light-Mediated Photoredox Catalysis Triggers Nitric Oxide Release for Treatment of Cutibacterium Acne Induced Intervertebral Disc Degeneration. 62
36469724 2022
40
Vascular anatomy-based localization of intervertebral discs assisting needle puncture for constructing a mouse model of mechanical injury-induced lumbar intervertebral disc degeneration. 62
36265418 2022
41
Bone mesenchymal stem cells deliver exogenous lncRNA CAHM via exosomes to regulate macrophage polarization and ameliorate intervertebral disc degeneration. 62
36334792 2022
42
Orientin downregulating oxidative stress-mediated endoplasmic reticulum stress and mitochondrial dysfunction through AMPK/SIRT1 pathway in rat nucleus pulposus cells in vitro and attenuated intervertebral disc degeneration in vivo. 62
36125665 2022
43
Hsa-let-7f-1-3p targeting the circadian gene Bmal1 mediates intervertebral disc degeneration by regulating autophagy. 62
36334875 2022
44
Celecoxib activates autophagy by inhibiting the mTOR signaling pathway and prevents apoptosis in nucleus pulposus cells. 62
36457130 2022
45
Cyanidin attenuates the apoptosis of rat nucleus pulposus cells and the degeneration of intervertebral disc via the JAK2/STAT3 signal pathway in vitro and in vivo. 62
35175176 2022
46
Genomic G-quadruplex folding triggers a cytokine-mediated inflammatory feedback loop to aggravate inflammatory diseases. 62
36304116 2022
47
Procyanidin B2 alleviates oxidative stress-induced nucleus pulposus cells apoptosis through upregulating Nrf2 via PI3K-Akt pathway. 62
36448180 2022
48
Differences in lumbar paraspinal muscle morphology in patients with sagittal malalignment undergoing posterior lumbar fusion surgery. 62
36038784 2022
49
MIR-199A-5P REGULATES THE PROLIFERATION AND APOPTOSIS OF DEGENERATIVE NUCLEUS PULPOSUS CELLS THROUGH THE CDKN1B/NF-ΚB AXIS. 62
36155410 2022
50
Effect of species, concentration and volume of local anesthetics on intervertebral disk degeneration in rats with discoblock. 62
36152221 2022

Variations for Intervertebral Disc Disease

ClinVar genetic disease variations for Intervertebral Disc Disease:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CILP NM_003613.4(CILP):c.1184T>C (p.Ile395Thr) SNV Risk Factor
6312 rs2073711 GRCh37: 15:65494212-65494212
GRCh38: 15:65201874-65201874
2 THBS2-AS1, THBS2 NM_003247.5(THBS2):c.1478-8C>T SNV Risk Factor
12713 rs9406328 GRCh37: 6:169635010-169635010
GRCh38: 6:169234915-169234915
3 COL11A1 NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) SNV Likely Pathogenic
1179083 GRCh37: 1:103364284-103364284
GRCh38: 1:102898728-102898728
4 ASPN, CENPP NM_001012267.3(CENPP):c.564+94884TCA[15] MICROSAT Risk Factor
2527 rs3078372 GRCh37: 9:95237024-95237025
GRCh38: 9:92474742-92474743
5 COL11A1 NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) SNV Risk Factor
17137 rs1676486 GRCh37: 1:103354138-103354138
GRCh38: 1:102888582-102888582
6 COL9A3 NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) SNV Risk Factor
17139 rs61734651 GRCh37: 20:61451332-61451332
GRCh38: 20:62819980-62819980
7 COL11A1 NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) SNV Likely Pathogenic
1038628 rs750291363 GRCh37: 1:103387090-103387090
GRCh38: 1:102921534-102921534
8 COL9A2 NM_001852.4(COL9A2):c.976_977inv (p.Gln326Trp) INVERS Uncertain Significance
17145 rs137853213 GRCh37: 1:40773149-40773150
GRCh38: 1:40307477-40307478
9 COL9A3 NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) SNV Uncertain Significance
392918 rs139401633 GRCh37: 20:61453127-61453127
GRCh38: 20:62821775-62821775
10 COL9A2 NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) SNV Uncertain Significance
417900 rs201847956 GRCh37: 1:40766865-40766865
GRCh38: 1:40301193-40301193
11 COL9A3 NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) SNV Uncertain Significance
387925 rs948698664 GRCh37: 20:61453970-61453970
GRCh38: 20:62822618-62822618

UniProtKB/Swiss-Prot genetic disease variations for Intervertebral Disc Disease:

73
# Symbol AA change Variation ID SNP ID
1 COL9A2 p.Gln326Trp VAR_012658 rs137853213

Expression for Intervertebral Disc Disease

Search GEO for disease gene expression data for Intervertebral Disc Disease.

Pathways for Intervertebral Disc Disease

Pathways related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1 13.32 THBS2 MMP9 COL9A3 COL9A2 COL1A1 COL11A1
2
Show member pathways
12.82 COL9A3 COL9A2 COL1A1 COL11A1 BMP2
3
Show member pathways
12.68 THBS2 COL9A3 COL9A2 COL1A1 COL11A1
4
Show member pathways
12.54 MMP9 COL9A3 COL9A2 COL1A1 COL11A1
5 12.22 THBS2 MMP9 COL9A3 COL9A2 COL1A1 COL11A1
6
Show member pathways
11.89 ASPN COL1A1 COL9A2 COL9A3
7
Show member pathways
11.81 MMP9 COL9A3 COL9A2 COL1A1 COL11A1 BMP2
8 11.71 IL1B COL1A1 BMP2
9
Show member pathways
11.61 THBS2 COL9A3 COL9A2
10 11.51 MMP9 IL1B COL1A1
11 11.23 VDR IL1B COL1A1
12 11.01 MMP9 IL1B
13 11 IL1B BMP2
14 10.97 MMP9 COL1A1 COL11A1
15 10.93 MMP9 IL1B
16 10.77 THBS2 COL1A1
17 10.54 IL1B COL9A3 COL9A2 COL1A1 COL11A1 BMP2

GO Terms for Intervertebral Disc Disease

Cellular components related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.28 MMP9 IL1B COL9A3 COL9A2 COL1A1 COL11A1
2 extracellular region GO:0005576 10.21 ASPN BMP2 CILP COL11A1 COL1A1 COL9A2
3 endoplasmic reticulum lumen GO:0005788 10.01 COL9A3 COL9A2 COL1A1 COL11A1
4 extracellular matrix GO:0031012 9.73 ASPN COL11A1 COL1A1 COL9A2 COL9A3 MMP9
5 collagen type IX trimer GO:0005594 9.67 COL9A3 COL9A2
6 collagen-containing extracellular matrix GO:0062023 9.53 THBS2 MMP9 COL9A3 COL9A2 COL1A1 COL11A1
7 collagen trimer GO:0005581 9.46 COL9A3 COL9A2 COL1A1 COL11A1

Biological processes related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.83 CILP BMP2 ASPN
2 positive regulation of epithelial to mesenchymal transition GO:0010718 9.8 IL1B COL1A1 BMP2
3 proteoglycan metabolic process GO:0006029 9.71 COL11A1 BMP2
4 ossification GO:0001503 9.7 BMP2 COL11A1 COL1A1 MMP9
5 negative regulation of insulin-like growth factor receptor signaling pathway GO:0043569 9.67 CILP BMP2
6 extracellular matrix organization GO:0030198 9.65 MMP9 COL9A3 COL9A2 COL1A1 COL11A1
7 response to fluoride GO:1902617 9.43 COL1A1 ASPN
8 skeletal system development GO:0001501 9.32 VDR MMP9 COL9A2 COL1A1 BMP2

Molecular functions related to Intervertebral Disc Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL9A3 COL9A2 COL1A1 COL11A1
2 extracellular matrix structural constituent GO:0005201 9.4 THBS2 COL9A3 COL9A2 COL1A1 COL11A1 CILP

Sources for Intervertebral Disc Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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