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IDD
MCID: INT146
MIFTS: 63

Intervertebral Disc Disease (IDD)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Intervertebral Disc Disease

About this section

MalaCards integrated aliases for Intervertebral Disc Disease:

Name: Intervertebral Disc Disease 56 52 25 73 54 39
Intervertebral Disc Degeneration 52 25 43 71
Intervertebral Disc Disorder 25 29 6 71
Lumbar Disc Disease 56 73 54 71
Idd 56 52 25 73
Intervertebral Disc Disease, Susceptibility to 56 13 6
Lumbar Disc Degeneration 56 73 17
Lumbar Disc Herniation 56 73 17
Lumbar Disc Herniation, Susceptibility to 56 6
Lumbar Disc Disease, Susceptibility to 56 6
Intervertebral Disc Displacement 43 17
Lumbar Disc Degeneration, Susceptibility to 6
Degeneration of Lumbar Intervertebral Disc 71
Abnormality of the Intervertebral Disk 29
Intervertebral Disk Degeneration 25
Intervertebral Disk Displacement 71
Disorder of Intervertebral Disc 25
Intervertebral Disk Disease 73
Degenerative Disc Disease 52
Discogenic Disorder 25
Discogenic Disease 25
Ldd 73
Ldh 73

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

OMIM 56 603932
UMLS 71 C0021818 C0158252 C0158266 more
Sources

Summaries for Intervertebral Disc Disease

About this section
Genetics Home Reference : 25 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 degeneration, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and degenerative disc disease, 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 ERK Signaling and Phospholipase-C Pathway. The drugs Norepinephrine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and testes, and related phenotypes are hematopoietic system and immune system

NIH Rare Diseases : 52 Intervertebral disc disease (IDD) is a common musculoskeletal condition that primarily affects the back. It is characterized by intervertebral disc herniation and/or sciatic pain (sciatica) and is a primary cause of low back pain, affecting about 5% of individuals. Both environmental and genetic factors are thought to predispose an individual to developing the condition. Treatment for IDD may include physical therapy , pain medications, and sometimes surgical intervention such as discectomy or spinal fusion .

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 Intervertebral disc disease: 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 : 74 An intervertebral disc (or intervertebral fibrocartilage) lies between adjacent vertebrae in the... more...

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Related Diseases for Intervertebral Disc Disease

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

(show top 50) (show all 745)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 32.0 COL9A2 COL11A2 COL11A1
2 degenerative disc disease 30.9 VDR COL9A3 ASPN
3 multiple epiphyseal dysplasia, autosomal dominant 30.7 COL9A3 COL9A2
4 osteochondrosis 30.3 VDR COL9A3 COL9A2
5 traumatic brain injury 30.2 MMP9 IL6
6 back pain 29.9 THBS2 MMP9 COL9A3 COL9A2 CILP ASPN
7 bronchitis 29.8 MMP9 IL6 IL1B
8 aortic aneurysm 29.7 MMP9 IL6 COL11A1
9 bone resorption disease 29.7 VDR IL6 IL1B
10 pertussis 29.6 IL6 IL1B IL1A
11 arthropathy 29.6 IL6 IL1B IFNG CILP
12 spondyloarthropathy 29.5 IL6 IL1B IFNG
13 complex regional pain syndrome 29.5 IL6 IL1B IFNG
14 pericarditis 29.5 IL6 IL1B IFNG
15 prostatitis 29.4 VDR IL6 IL1B
16 viral hepatitis 29.4 IL6 IL1B IFNG
17 peritonitis 29.4 IL6 IL1B IFNG
18 spinal stenosis 29.3 THBS2 COL9A3 COL9A2 COL11A2 COL11A1
19 juvenile rheumatoid arthritis 29.2 IL6 IL1B IFNG
20 endocarditis 29.2 IL6 IL1A IFNG
21 demyelinating disease 29.2 MMP9 IL6 IL1B IFNG
22 neuritis 29.2 MMP9 IL6 IL1B IFNG
23 conjunctivitis 29.2 MMP9 IL6 IFNG
24 meningitis 29.1 MMP9 IL6 IL1B IL1A IFNG
25 bacterial infectious disease 29.1 IL6 IL1B IL1A IFNG
26 dermatitis 29.1 IL6 IL1B IL1A IFNG
27 bacterial meningitis 29.1 MMP9 IL6 IL1B IFNG
28 testicular disease 29.1 IL6 IL1B IFNG
29 central nervous system disease 29.1 MMP9 IL6 IL1B IFNG
30 nervous system disease 29.1 MMP9 IL6 IL1B IFNG
31 mumps 29.1 IL6 IL1B IFNG
32 rubella 29.1 IL6 IL1B IFNG
33 bronchiolitis 29.0 IL6 IL1A IFNG
34 aseptic meningitis 29.0 IL1B IL1A IFNG
35 dermatitis, atopic 29.0 IL6 IL1B IL1A IFNG
36 pyelonephritis 29.0 IL6 IL1B IL1A IFNG
37 myocarditis 29.0 IL6 IL1B IFNG
38 myeloma, multiple 29.0 MMP9 IL6 IL1B IFNG
39 systemic scleroderma 28.9 IL6 IL1B IFNG
40 osteomyelitis 28.9 IL6 IL1B IL1A IFNG
41 bone disease 28.8 VDR MMP9 IL6 IL1B IL1A
42 vascular disease 28.8 MMP9 IL6 IL1A IFNG
43 immune deficiency disease 28.8 VDR IL6 IL1A IFNG
44 hashimoto thyroiditis 28.8 VDR IL6 IL1B IFNG
45 pulmonary tuberculosis 28.8 VDR IL6 IL1B IFNG
46 leprosy 3 28.8 VDR IL6 IL1B IFNG
47 measles 28.7 IL6 IL1B IFNG
48 pneumonia 28.7 MMP9 IL6 IL1B IL1A IFNG
49 myelodysplastic syndrome 28.7 MMP9 IL6 IL1B IL1A IFNG
50 graft-versus-host disease 28.6 IL6 IL1B IL1A IFNG

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
Sources

Symptoms & Phenotypes for Intervertebral Disc Disease

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Clinical features from OMIM:

603932

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 hematopoietic system MP:0005397 9.97 CILP COL9A3 IFNG IL1A IL1B IL6
2 immune system MP:0005387 9.96 CILP COL11A1 COL9A3 IFNG IL1A IL1B
3 hearing/vestibular/ear MP:0005377 9.85 ASPN COL11A1 COL11A2 COL9A2 COL9A3 VDR
4 integument MP:0010771 9.76 CILP IFNG IL1A IL1B IL6 MMP9
5 neoplasm MP:0002006 9.43 IFNG IL1A IL1B IL6 MMP9 THBS2
6 skeleton MP:0005390 9.28 COL11A1 COL11A2 COL9A2 IFNG IL1B IL6
Sources

Drugs & Therapeutics for Intervertebral Disc Disease

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

(show top 50) (show all 162)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Coal tar Approved Phase 4 8007-45-2
4
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
5
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
6
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
9
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
10
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
11
Eplerenone Approved Phase 4 107724-20-9 150310 443872
12 Flurbiprofen axetil Investigational Phase 4 91503-79-6
13 Trace Elements Phase 4
14 Micronutrients Phase 4
15 Dopamine Agents Phase 4
16 Antidepressive Agents Phase 4
17 Duloxetine Hydrochloride Phase 4
18 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
19 Calcium, Dietary Phase 4
20 Anti-Infective Agents Phase 4
21 Anti-Anxiety Agents Phase 4
22 Psychotropic Drugs Phase 4
23 Anticonvulsants Phase 4
24 calcium channel blockers Phase 4
25 Triamcinolone diacetate Phase 4
26 triamcinolone acetonide Phase 4
27 Triamcinolone hexacetonide Phase 4
28 cefuroxime axetil Phase 4
29 Anti-Bacterial Agents Phase 4
30 Antibiotics, Antitubercular Phase 4
31 Pharmaceutical Solutions Phase 4
32 Diuretics, Potassium Sparing Phase 4
33 Antihypertensive Agents Phase 4
34 Mineralocorticoids Phase 4
35 Mineralocorticoid Receptor Antagonists Phase 4
36 diuretics Phase 4
37
Calcium Nutraceutical Phase 4 7440-70-2 271
38
Adalimumab Approved Phase 3 331731-18-1 16219006
39
Loxoprofen Approved Phase 3 68767-14-6, 80382-23-6 3965
40
tannic acid Approved Phase 3 1401-55-4
41
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
42
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
43 Cinnamon Approved Phase 3
44
Calcium polycarbophil Approved Phase 3 126040-58-2
45
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
46
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
47
Racepinephrine Approved Phase 3 329-65-7 838
48
Infliximab Approved Phase 3 170277-31-3
49
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
50 Excitatory Amino Acid Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 528)
# Name Status NCT ID Phase Drugs
1 Duloxetine as an Analgesic Agent in Patients Undergoing Elective Spine Surgery Unknown status NCT02535000 Phase 4 Duloxetine;Placebo
2 Post Market Non-Inferiority Study Comparing Triojection® to Discectomy for Lumbar Disc Herniation Unknown status NCT02525120 Phase 4
3 A Prospective Randomized Trails for Primary Disc Herniation With Radiculopathy:Conservative Versus Aggressive Discectomy Unknown status NCT01204008 Phase 4
4 A Prospective Study of the InterFuse T(tm) Unknown status NCT02678130 Phase 4
5 Prospective, Randomized, Single Blind Trial on the Effects of Paravertebral Intramuscular Oxygen-ozone Therapy on Back Pain in Subjects Aged 65 or Older Unknown status NCT01709058 Phase 4 Intramuscular/paravertebral injections of Oxygen-Ozone
6 A Multi-center, Post Marketing Surveillance Study to Monitor the Safety and Performance of the Barricaid® ARD in the Treatment of Back and Radicular Pain Caused by Primary Lumbar Disc Herniation Completed NCT01534065 Phase 4
7 Evaluation of Fusion Rate of Anterior Cervical Discectomy and Fusion (ACDF) Using Cervios ChronOsâ„¢ and Bonionâ„¢ Completed NCT01615328 Phase 4
8 Analgetic and Anxiolytic Effect of Preoperative Pregabalin in Patients Undergoing Surgery of the Vertebral Columna Completed NCT00353704 Phase 4 pregabalin;Placebo;morphine
9 Study of an Expandable Interbody Device for the Lumbar Spine Completed NCT02075554 Phase 4
10 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
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 Prospective, Double-Blind, Randomized, Placebo-Controlled Trial of Single-Dose Cefuroxime Prophylaxis in Herniated Disk Surgery Completed NCT00530400 Phase 4 cefuroxime;placebo
13 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
14 Efficacy of Pregabalin in Patients With Radicular Pain Completed NCT00908375 Phase 4 Pregabalin;Sugar Pill
15 Opioid Treatment for Chronic Low Back Pain and the Impact of Mood Symptoms Completed NCT01502644 Phase 4 Oxycodone;Morphine;Placebo
16 Randomized Study of Anular Repair With the Xclose Tissue Repair System Completed NCT00760799 Phase 4
17 Efficacy Study of Caudal Epidural Steroid Injections in Patients With Low Back Pain/Radiculopathy Completed NCT01407913 Phase 4
18 Study Of Disc Anaesthesia For The Preoperative Diagnosis Of Chronic Lower Back Pain Completed NCT00443781 Phase 4
19 Spine Patient Outcomes Research Trial (SPORT): A Multicenter Randomized Trial for Intervertebral Disc Herniation (IDH) Completed NCT00000410 Phase 4
20 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
21 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%
22 Combined Administration of Bupivacaine and Exparel Versus Bupivacaine or Exparel Alone for Postoperative Analgesia in Posterior Lumbar Spine Surgery - A Prospective Randomized Study Recruiting NCT03514277 Phase 4 Exparel;Bupivacaine
23 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
24 A Prospective, Randomized, Multicenter Study to Demonstrate the Superiority of the Barricaid to Discectomy for Primary Lumbar Disc Herniation Active, not recruiting NCT01283438 Phase 4
25 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
26 Clinical and Radiographic Outcomes of BIO4 Bone Matrix in Patients Undergoing 1 or 2-Level Anterior Cervical Discectomy and Fusion Surgery Active, not recruiting NCT03077204 Phase 4
27 Clinical Investigation of NanoFUSE® Bioactive Matrix and Autogenous Bone in Posterolateral Spinal Fusion (Nonloadbearing) Not yet recruiting NCT03751943 Phase 4
28 Efficacy and Safety of Ultrasound-guided Lateral Thoracolumbar Interfascial Plane Block (TLIPB) for Postoperative Pain in Patients Undergoing Herniated Lumbar Disc Surgery: A Randomized Clinical Trial. Not yet recruiting NCT03951038 Phase 4
29 Epidural Steroid Injection With Supplemental Oral Eplerenone for Low Back Pain: A Prospective, Double Blind Randomized Trial Suspended NCT03418649 Phase 4 Eplerenone 50 Mg Tab;Placebo Oral Tablet
30 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
31 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
32 Lumbar Interbody Fusion Using The Telamon® Peekâ„¢ Versus The Telamon® Hydrosorbâ„¢ Fusion Device - A Prospective, Randomized Controlled Trial To Assess Surgical And Clinical Outcomes Terminated NCT00095095 Phase 4
33 Efficacy Study Using Solum IV, Bone Marrow Concentrate With General Fluid Concentrate in Transforaminal Lumbar Interbody Fusion Withdrawn NCT03223701 Phase 4
34 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
35 Wallis Mechanical Normalization System for Low Back Pain Unknown status NCT00134537 Phase 3
36 A Prospective, Multi-center, Randomized, Active-Controlled Study of the Wallis System for the Treatment of Mild to Moderate Degenerative Disc Disease of the Lumbar Spine Unknown status NCT00484458 Phase 3
37 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
38 A Multicenter, Open-label Study of SI 6603 in Patients With Lumbar Disc Herniation (Phase III) Completed NCT02421601 Phase 3 Condoliase
39 A Study of SI-6603 in Patients With Lumbar Disc Herniation Completed NCT01941563 Phase 3 Condoliase;placebo
40 A Pivotal, Multi-Center, Clinical Trial Evaluating The Safety And Effectiveness of The Lumbar TDR Device In Patients With Single-Level Lumbar Degenerative Disc Disease Completed NCT00927238 Phase 3
41 A Prospective, Multicenter, Randomized Study Comparing the Use of HEALOS® to Autograft in a Transforaminal Lumbar Interbody Fusion (TLIF) Approach Completed NCT00316121 Phase 3
42 Assessment of the Efficacy of an Intradiscal Injection of Corticoids in Modic I Discopathies. Completed NCT01694134 Phase 3 Hydrocortancyl.;Lidocaine
43 A Multi-center Study to Evaluate the Safety and Efficacy of DePuy AcroMed Titanium Surgical Mesh and MOSS-Miami Spinal Fixation System Pedicle Screws for Intradiscal Fusion in the Lumbar Spine Completed NCT00215319 Phase 3
44 A Prospective, Randomized Clinical Investigation of rhBMP-2 and Compression Resistant Matrix With the CD HORIZON® Spinal System for Posterolateral Lumbar Fusion in Patients With Symptomatic Degenerative Disc Disease Completed NCT00707265 Phase 3
45 A Prospective, Multicenter, Controlled Clinical Trial of an Artificial Cervical Disc LP at a Single Level for Symptomatic Cervical Disc Disease Completed NCT00667459 Phase 3
46 Clinical Investigation of the SB Charite III Intervertebral Disc Spacer. Completed NCT00215306 Phase 3
47 A Randomized Multi-Center Study to Evaluate the Safety and Efficacy of the Cervical I/F Cage for Anterior Cervical Fusion Completed NCT00215293 Phase 3
48 Co-analgesic Effects of Dexamethasone and Pregabalin After Lumbar Slipped Disc Surgery Completed NCT01811251 Phase 3 Pregabaline (150mg), Dexamethasone (20mg/5ml; 0.2mg/kg)
49 A Multicenter, Randomized, Double-blind Recommended Dose-finding Study of SI-6603 in Patients With Lumbar Disc Herniation (Phase II/III Study) Completed NCT00634946 Phase 2, Phase 3 SI-6603;Placebo
50 Neurosurgery Patient Outcomes in Treating Spinal Disorders Completed NCT01220921 Phase 3

Search NIH Clinical Center for Intervertebral Disc Disease

Cochrane evidence based reviews: intervertebral disc degeneration

Sources

Genetic Tests for Intervertebral Disc Disease

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Genetic tests related to Intervertebral Disc Disease:

# Genetic test Affiliating Genes
1 Intervertebral Disc Disorder 29 ASPN CILP COL11A1 COL9A3 THBS2
2 Abnormality of the Intervertebral Disk 29
Sources

Anatomical Context for Intervertebral Disc Disease

About this section

MalaCards organs/tissues related to Intervertebral Disc Disease:

40
Bone, Spinal Cord, Testes, Bone Marrow, Brain, Skin, Pituitary
Sources

Publications for Intervertebral Disc Disease

About this section

Articles related to Intervertebral Disc Disease:

(show top 50) (show all 714)
# Title Authors PMID Year
1
A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. 56 6 61 54
15864306 2005
2
An allele of COL9A2 associated with intervertebral disc disease. 61 56 54 6
10411504 1999
3
A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation. 6 56
18455130 2008
4
Association of the asporin D14 allele with lumbar-disc degeneration in Asians. 56 6
18304494 2008
5
A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. 56 6
17999364 2007
6
Identification of a novel common genetic risk factor for lumbar disk disease. 56 6
11308397 2001
7
Phenotypic and population differences in the association between CILP and lumbar disc disease. 56 54 61
17220213 2007
8
Association between an aggrecan gene polymorphism and lumbar disc degeneration. 61 56
10626307 1999
9
Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. 61 56
10025932 1999
10
Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese. 6
17024313 2006
11
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. 6
15640800 2005
12
Familial predisposition for lumbar degenerative disc disease. A case-control study. 56
9589542 1998
13
Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. 56
7593075 1995
14
Six-year outcomes of anterior lumbar interbody arthrodesis with use of interbody fusion cages and recombinant human bone morphogenetic protein-2. 61 54
19411467 2009
15
[Association of single nucleotide polymorphisms of IL-1b with lumbar disc disease]. 61 54
17681918 2007
16
Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. 61 54
16133074 2006
17
Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene. 61 54
16413503 2006
18
Association study of COL9A2 with lumbar disc disease in the Japanese population. 54 61
17024315 2006
19
Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. 61 54
15994869 2005
20
The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. 61 54
15167667 2004
21
Lumbar interbody fusion after treatment with recombinant human bone morphogenetic protein-2 added to poly(L-lactide-co-D,L-lactide) bioresorbable implants. 61 54
15198497 2004
22
Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. 54 61
14644861 2003
23
COL9A2 allelotypes in intervertebral disc disease. 61 54
11118298 2000
24
The effect of non-fusion dynamic stabilization on biomechanical responses of the implanted lumbar spine during whole-body vibration. 61
32172078 2020
25
Comparison of the Prevalence of Low Back Pain and Related Spinal Diseases among Smokers and Nonsmokers: Using Korean National Health Insurance Database. 61
32489542 2020
26
Clinical reasoning in feline spinal disease: which combination of clinical information is useful? 61
31251096 2020
27
Inertial Sensors as a Tool for Diagnosing Discopathy Lumbosacral Pathologic Gait: A Preliminary Research. 61
32466525 2020
28
Intervertebral disc disease and aortic thromboembolism are the most common causes of acute paralysis in dogs and cats presenting to an emergency clinic. 61
32471959 2020
29
Differential Effect of Long-Term Systemic Exposure of TNFα on Health of the Annulus Fibrosus and Nucleus Pulposus of the Intervertebral Disc. 61
31800975 2020
30
Intervertebral Disc Repair: Current Concepts. 61
32528797 2020
31
Randomized controlled trial of pregabalin for analgesia after surgical treatment of intervertebral disc disease in dogs. 61
32329092 2020
32
Reduced nucleotomy-induced intervertebral disc disruption through spontaneous spheroid formation by the Low Adhesive Scaffold Collagen (LASCol). 61
31981764 2020
33
TWEAK and TSLP in disc degeneration and spontaneous hernia resorption. 61
32211586 2020
34
Intervertebral Disc Diseases PART 2: A Review of the Current Diagnostic and Treatment Strategies for Intervertebral Disc Disease. 61
32244936 2020
35
Gene polymorphisms and expression levels of interleukin-6 and interleukin-10 in lumbar disc disease: a meta-analysis and immunohistochemical study. 61
32070384 2020
36
Degenerative lumbar disc disease: in vivo data support the rationale for the selection of appropriate animal models. 61
31904862 2020
37
DISEASE AND PATHOLOGICAL CONDITIONS OF AN ENDANGERED RODENT, MICROTUS CALIFORNICUS SCIRPENSIS, IN A CAPTIVE-REARING FACILITY AND IN THE WILD. 61
31926505 2020
38
Colder Ambient Temperatures Influence Acute Onset Canine Intervertebral Disc Extrusion. 61
32318591 2020
39
Butyrate alleviates inflammatory response and NF-κB activation in human degenerated intervertebral disc tissues. 61
31780370 2020
40
Functional Changes in Patients and Morphological Changes in the Lumbar Intervertebral Disc after Applying Lordotic Curve-Controlled Traction: A Double-Blind Randomized Controlled Study. 61
31861714 2019
41
A Brief Review of the Degenerative Intervertebral Disc Disease. 61
32082013 2019
42
The Long-term Reoperation Rate Following Surgery for Lumbar Herniated Intervertebral Disc Disease: A Nationwide Sample Cohort Study With a 10-year Follow-up. 61
30973508 2019
43
Is age more than manual material handling associated with lumbar vertebral body and disc changes? A cross-sectional multicentre MRI study. 61
31537567 2019
44
Long-term outcomes of lumbar microdiscectomy in the pediatric population: a large single-institution case series. 61
31470400 2019
45
Inflammatory biomarkers in sera of patients with intervertebral disc degeneration. 61
31482941 2019
46
[Experiments study on mechanical behavior of porcine lumbar intervertebral disc after nucleotomy under compression]. 61
31441259 2019
47
A Heterologous Fibrin Glue Enhances the Closure Effect of Surgical Suture on the Repair of Annulus Fibrous Defect in a Sheep Model. 61
31346996 2019
48
[Outcome of intervertebral disk disease surgery depending on dog breed, location and experience of the surgeon: 1113 cases]. 61
31434123 2019
49
Congenital block vertebrae and intervertebral disc protrusion in a young cat. 61
31448128 2019
50
Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs. 61
31181696 2019
Sources

Variations for Intervertebral Disc Disease

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ClinVar genetic disease variations for Intervertebral Disc Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASPN NM_001012267.3(CENPP):c.564+94884TCA[15]short repeat risk factor 2527 9:95237024-95237025 9:92474742-92474743
2 CILP NM_003613.4(CILP):c.1184T>C (p.Ile395Thr)SNV risk factor 6312 rs2073711 15:65494212-65494212 15:65201874-65201874
3 THBS2 NM_003247.3(THBS2):c.1478-8C>TSNV risk factor 12713 rs9406328 6:169635010-169635010 6:169234915-169234915
4 COL9A3 NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)SNV Uncertain significance 392918 rs139401633 20:61453127-61453127 20:62821775-62821775
5 COL9A3 NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr)SNV Uncertain significance 387925 rs948698664 20:61453970-61453970 20:62822618-62822618
6 COL9A2 NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)SNV Likely benign 417900 rs201847956 1:40766865-40766865 1:40301193-40301193
7 COL9A3 NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp)SNV Benign/Likely benign 17139 rs61734651 20:61451332-61451332 20:62819980-62819980
8 COL9A2 NM_001852.4(COL9A2):c.976_977inv (p.Gln326Trp)inversion Benign 17145 rs137853213 1:40773149-40773150 1:40307477-40307478
9 COL11A1 NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)SNV Benign 17137 rs1676486 1:103354138-103354138 1:102888582-102888582

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

Sources

Expression for Intervertebral Disc Disease

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

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

(show all 43)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.7 IL6 IL1B IL1A COL9A3 COL9A2 COL11A2
2
Phospholipase-C Pathway 63
Show member pathways
 12.97 IL6 COL9A3 COL9A2 COL11A2 COL11A1
3
Focal Adhesion 36 1
Show member pathways
 12.79 THBS2 COL9A3 COL9A2 COL11A2 COL11A1
4
Collagen chain trimerization 65
Show member pathways
 12.73 MMP9 COL9A3 COL9A2 COL11A2 COL11A1
5
Degradation of the extracellular matrix 65
Show member pathways
 12.56 MMP9 COL9A3 COL9A2 COL11A2 COL11A1 ASPN
6
T cell receptor signaling pathway 36
Show member pathways
 12.52 IL6 IL1B IL1A IFNG
7
Th17 cell differentiation 36
Show member pathways
 12.51 IL6 IL1B IL1A IFNG
8
Toll Comparative Pathway 63
Show member pathways
 12.23 IL6 IL1B IL1A IFNG
9
IL-17 Family Signaling Pathways 64
Show member pathways
 12.23 MMP9 IL6 IL1B IFNG
10
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.18 IL6 IL1B IL1A IFNG
11
ECM-receptor interaction 36
Show member pathways
 12.06 THBS2 COL9A3 COL9A2
12
Tuberculosis 36
12.06 VDR IL6 IL1B IL1A IFNG
13
Fluid shear stress and atherosclerosis 36
11.98 MMP9 IL1B IL1A IFNG
14
Osteoclast differentiation 36
11.97 IL1B IL1A IFNG
15
TNF signaling pathway 36
11.9 MMP9 IL6 IL1B
16
IL27-mediated signaling events 1
Show member pathways
 11.86 IL6 IL1B IFNG
17
Interleukin-4 and 13 signaling 65
11.85 MMP9 IL6 IL1B IL1A
18
Amoebiasis 36
11.84 IL6 IL1B IFNG
19
AGE-RAGE signaling pathway in diabetic complications 36
11.83 IL6 IL1B IL1A
20
Hematopoietic cell lineage 36
11.82 IL6 IL1B IL1A
21
Senescence and Autophagy in Cancer 1
11.8 IL6 IL1B IL1A IFNG
22
Th17 Differentiation 64
Show member pathways
 11.78 IL6 IL1B IFNG
23
Rheumatoid arthritis 36
11.73 IL6 IL1B IL1A IFNG
24
Spinal Cord Injury 1
11.73 MMP9 IL6 IL1B IL1A IFNG
25
Pertussis 36
11.69 IL6 IL1B IL1A
26
Dendritic Cells Developmental Lineage Pathway 64
11.67 IL6 IL1B IFNG
27
Lung fibrosis 1
11.59 MMP9 IL6 IL1B
28
ECM proteoglycans 65
11.52 COL9A3 COL9A2 ASPN
29
Interleukin-10 signaling 65
11.45 IL6 IL1B IL1A
30
Hematopoietic Stem Cell Differentiation 1
11.43 IL6 IL1B IL1A
31
Malaria 36
11.37 THBS2 IL6 IL1B IFNG
32
African trypanosomiasis 36
11.31 IL6 IL1B IFNG
33
Prion diseases 36
11.28 IL6 IL1B IL1A
34
IL-10 Pathway 63
11.27 IL6 IL1B IL1A
35
Development and heterogeneity of the ILC family 1
11.21 IL6 IL1B IFNG
36
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.15 MMP9 IL6 IL1B IL1A IFNG
37
IL1 and megakaryocytes in obesity 1
11.08 MMP9 IL1B IFNG
38
Hypertrophy Model 1
10.99 IL1A IFNG
39
Cytokines and Inflammatory Response 1
10.92 IL6 IL1B IL1A IFNG
40
G-protein signaling_Rap2B regulation pathway 22
10.77 IL6 IL1B IL1A COL9A3 COL9A2 COL11A2
41
IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
10.74 IL6 IL1B
42
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.67 VDR IL6 IL1B IL1A IFNG
43
Interleukin-1 processing 65
10.46 IL1B IL1A
Sources

GO Terms for Intervertebral Disc Disease

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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 9.9 MMP9 IL6 IL1B IL1A IFNG COL9A3
2 extracellular matrix GO:0031012 9.8 THBS2 MMP9 COL9A3 COL9A2 COL11A2 COL11A1
3 endoplasmic reticulum lumen GO:0005788 9.77 IL6 COL9A3 COL9A2 COL11A2 COL11A1
4 extracellular region GO:0005576 9.73 THBS2 MMP9 IL6 IL1B IL1A IFNG
5 collagen trimer GO:0005581 9.62 COL9A3 COL9A2 COL11A2 COL11A1
6 collagen type IX trimer GO:0005594 9.43 COL9A3 COL9A2
7 collagen type XI trimer GO:0005592 9.4 COL11A2 COL11A1
8 collagen-containing extracellular matrix GO:0062023 9.23 THBS2 MMP9 COL9A3 COL9A2 COL11A2 COL11A1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.9 VDR IL6 IL1B IL1A
2 positive regulation of gene expression GO:0010628 9.85 VDR IL6 IL1B IL1A IFNG
3 cytokine-mediated signaling pathway GO:0019221 9.8 MMP9 IL6 IL1B IL1A
4 cellular response to lipopolysaccharide GO:0071222 9.71 VDR IL6 IL1B IL1A
5 macrophage differentiation GO:0030225 9.59 MMP9 IFNG
6 regulation of nitric-oxide synthase activity GO:0050999 9.58 IL1B IL1A
7 positive regulation of glial cell proliferation GO:0060252 9.58 IL6 IL1B
8 astrocyte activation GO:0048143 9.57 IL1B IFNG
9 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.56 IL1B IFNG
10 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.55 IL1B IL1A
11 positive regulation of chemokine biosynthetic process GO:0045080 9.54 IL1B IFNG
12 positive regulation of interleukin-6 secretion GO:2000778 9.54 IL1B IL1A IFNG
13 positive regulation of neuroinflammatory response GO:0150078 9.52 IL6 IL1B
14 regulation of neuroinflammatory response GO:0150077 9.51 MMP9 IL6
15 ectopic germ cell programmed cell death GO:0035234 9.48 IL1B IL1A
16 skeletal system development GO:0001501 9.46 VDR MMP9 COL9A2 COL11A2
17 positive regulation of immature T cell proliferation in thymus GO:0033092 9.43 IL1B IL1A
18 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.32 IL1B IFNG
19 fever generation GO:0001660 9.26 IL1B IL1A
20 positive regulation of vascular endothelial growth factor production GO:0010575 9.13 IL6 IL1B IL1A
21 extracellular matrix organization GO:0030198 9.02 MMP9 COL9A3 COL9A2 COL11A2 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 IL6 IL1B IL1A IFNG
2 interleukin-1 receptor binding GO:0005149 9.26 IL1B IL1A
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL9A3 COL9A2 COL11A2 COL11A1
4 extracellular matrix structural constituent GO:0005201 9.1 THBS2 COL9A3 COL9A2 COL11A2 COL11A1 CILP
Sources

Sources for Intervertebral Disc Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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