Intervertebral Disc Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IDD MCID: INT146 MIFTS: 61	Intervertebral Disc Disease (IDD) Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the musculoskeletal system and connective tissue

Other dorsopathies

Other intervertebral disc disorders

Intervertebral disc disorder, unspecified

Other specified intervertebral disc disorders

External Ids:

OMIM® ⁵⁷ 603932

MeSH ⁴³ D007405 D055959

ICD10 ³¹ M51.8 M51.9

MedGen ⁴⁰ C0158252 C0221775 C2675551 more

EFO ¹⁶ EFO_0004994 EFO_1002005

UMLS ⁷¹ C0021818 C0158252 C0158266 more

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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...

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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:

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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

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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

Donepezil

Approved

Phase 4

120014-06-4

3152

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4

437-38-7

3345

Tramadol

Approved, Investigational

Phase 4

27203-92-5

33741 5523

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

Morphine

Approved, Investigational

Phase 4

57-27-2

5288826

Duloxetine

Approved

Phase 4

136434-34-9, 116539-59-4

60835

Norepinephrine

Approved

Phase 4

51-41-2

439260

Magnesium sulfate

Approved, Investigational, Vet_approved

Phase 4

7487-88-9

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 4

86347-14-0, 113775-47-6

68602 5311068

Cefuroxime

Approved

Phase 4

55268-75-2

5479529

Remifentanil

Approved

Phase 4

132875-61-7

60815

Racepinephrine

Approved, Vet_approved

Phase 4

51-43-4, 329-65-7

838 5816

Eplerenone

Approved

Phase 4

107724-20-9

443872

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Ibuprofen

Approved

Phase 4

15687-27-1

3672

Pregabalin

Approved, Investigational

Phase 4

148553-50-8

5486971

Pentoxifylline

Approved, Investigational

Phase 4

6493-05-6

4740

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Acetaminophen

Approved

Phase 4

103-90-2

1983

Naproxen

Approved, Vet_approved

Phase 4

22204-53-1

156391 1302

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 4

22737-96-8, 68-26-8

5280382 445354

Nootropic Agents

Phase 4

Cholinesterase Inhibitors

Phase 4

Cholinergic Agents

Phase 4

Analgesics, Non-Narcotic

Phase 4

Anti-Arrhythmia Agents

Phase 4

Analgesics, Opioid

Phase 4

Narcotics

Phase 4

Anesthetics, General

Phase 4

Dopamine Agents

Phase 4

Anti-Bacterial Agents

Phase 4

Anti-Infective Agents

Phase 4

Antibiotics, Antitubercular

Phase 4

Antidepressive Agents

Phase 4

Serotonin and Noradrenaline Reuptake Inhibitors

Phase 4

Anesthetics, Intravenous

Phase 4

Hypnotics and Sedatives

Phase 4

Tocolytic Agents

Phase 4

Cefuroxime axetil

Phase 4

3379942

Sympathomimetics

Phase 4

Epinephryl borate

Phase 4

Bronchodilator Agents

Phase 4

Adrenergic beta-Agonists

Phase 4

Anti-Asthmatic Agents

Phase 4

Vasoconstrictor Agents

Phase 4

Respiratory System Agents

Phase 4

Mydriatics

Phase 4

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

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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

Sources

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

Sources

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	Seki S...Ikegawa S	15864306	2005
2	A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation. ⁶² ⁵⁷ ⁵	Hirose Y...Ikegawa S	18455130	2008
3	Association of the asporin D14 allele with lumbar-disc degeneration in Asians. ⁶² ⁵⁷ ⁵	Song YQ...Chan D	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	Mio F...Ikegawa S	17999364	2007
5	Identification of a novel common genetic risk factor for lumbar disk disease. ⁵⁷ ⁵	Paassilta P...Ala-Kokko L	11308397	2001
6	Phenotypic and population differences in the association between CILP and lumbar disc disease. ⁵³ ⁶² ⁵⁷	Virtanen IM...Chan D	17220213	2007
7	An allele of COL9A2 associated with intervertebral disc disease. ⁵³ ⁶² ⁵⁷	Annunen S...Ala-Kokko L	10411504	1999
8	Association between an aggrecan gene polymorphism and lumbar disc degeneration. ⁶² ⁵⁷	Kawaguchi Y...Kimura T	10626307	1999
9	Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. ⁶² ⁵⁷	Sambrook PN...Spector TD	10025932	1999
10	Familial predisposition for lumbar degenerative disc disease. A case-control study. ⁶² ⁵⁷	Matsui H...Tsuji H	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	Jiang Q...Dai J	17024313	2006
12	An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. ⁵	Kizawa H...Ikegawa S	15640800	2005
13	Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. ⁵⁷	Battie MC...Videman T	7593075	1995
14	The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas. ⁵³ ⁶²	Min SK...Hiranuma K	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	Burkus JK...Zdeblick TA	19411467	2009
16	[Association of single nucleotide polymorphisms of IL-1b with lumbar disc disease]. ⁵³ ⁶²	Ye W...Wang XG	17681918	2007
17	Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. ⁵³ ⁶²	Solovieva S...Riihimaki H	16133074	2006
18	Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene. ⁵³ ⁶²	Mori M...Ikegawa S	16413503	2006
19	Association study of COL9A2 with lumbar disc disease in the Japanese population. ⁵³ ⁶²	Seki S...Ikegawa S	17024315	2006
20	Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. ⁵³ ⁶²	Tilkeridis C...Stratakis CA	15994869	2005
21	The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. ⁵³ ⁶²	Kales SN...Christiani DC	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	Lanman TH...Hopkins TJ	15198497	2004
23	Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. ⁵³ ⁶²	Noponen-Hietala N...Ala-Kokko L	14644861	2003
24	COL9A2 allelotypes in intervertebral disc disease. ⁵³ ⁶²	Wrocklage C...Paulus W	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	Sun J...Zhao Y	36439087	2023
26	Multiple nano-drug delivery systems for intervertebral disc degeneration: Current status and future perspectives. ⁶²	Liu W...Yang J	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	Wang Z...Zhu R	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	Xia KS...Liang CZ	36017070	2023
29	Chronic spinal cord compression associated with intervertebral disc degeneration in SPARC-null mice. ⁶²	Li ZY...Cui XJ	36018188	2023
30	3D-printed auxetic-structured intervertebral disc implant for potential treatment of lumbar herniated disc. ⁶²	Jiang Y...Zhang L	35846840	2023
31	Posterior reversible encephalopathy syndrome following spine surgery: A case report and review of the literature. ⁶²	Matsuo M...Mawatari M	36471737	2023
32	The effects of Pilates on pain, functionality, quality of life, flexibility and endurance in lumbar disc herniation. ⁶²	Taspinar G...Oksuz S	36453667	2022
33	Transforaminal Endoscopic Lumbar Discectomy versus Open Decompression Discectomy for Lumbar Disc Herniation. ⁶²	He J...Tang J	36474374	2022
34	Favorable long-term outcome in young adults undergoing surgery for lumbar disc herniation. ⁶²	Roiha M...Koski-Palken A	36205789	2022
35	Early Clinical Efficacy of Endo-TLIF in the Treatment of Lumbar Disc Herniation. ⁶²	Xiao C...Liu W	35468646	2022
36	Does the sagittal spinal profile differ between the elderly Chinese populations with and without lumbar disc herniation? ⁶²	Song J...Lu S	35370067	2022
37	Neuropeptide Y and receptors are associated with the pyroptosis of nucleus pulposus in aging and degenerative intervertebral discs of rats. ⁶²	Li F...Li Z	36027700	2022
38	Nucleus pulposus cells degeneration model: a necessary way to study intervertebral disc degeneration. ⁶²	Li YX...Liu Y	36472394	2022
39	Red Light-Mediated Photoredox Catalysis Triggers Nitric Oxide Release for Treatment of Cutibacterium Acne Induced Intervertebral Disc Degeneration. ⁶²	Tao S...Hu J	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	Zhang L...Xu R	36265418	2022
41	Bone mesenchymal stem cells deliver exogenous lncRNA CAHM via exosomes to regulate macrophage polarization and ameliorate intervertebral disc degeneration. ⁶²	Li W...Chen W	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	Zhang Z...Lin Z	36125665	2022
43	Hsa-let-7f-1-3p targeting the circadian gene Bmal1 mediates intervertebral disc degeneration by regulating autophagy. ⁶²	Mei L...Huang J	36334875	2022
44	Celecoxib activates autophagy by inhibiting the mTOR signaling pathway and prevents apoptosis in nucleus pulposus cells. ⁶²	Chen W...Lin H	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	Bai X...Zhu X	35175176	2022
46	Genomic G-quadruplex folding triggers a cytokine-mediated inflammatory feedback loop to aggravate inflammatory diseases. ⁶²	Wang X...Wang J	36304116	2022
47	Procyanidin B2 alleviates oxidative stress-induced nucleus pulposus cells apoptosis through upregulating Nrf2 via PI3K-Akt pathway. ⁶²	Zou YP...Li XL	36448180	2022
48	Differences in lumbar paraspinal muscle morphology in patients with sagittal malalignment undergoing posterior lumbar fusion surgery. ⁶²	Muellner M...Hughes AP	36038784	2022
49	MIR-199A-5P REGULATES THE PROLIFERATION AND APOPTOSIS OF DEGENERATIVE NUCLEUS PULPOSUS CELLS THROUGH THE CDKN1B/NF-ΚB AXIS. ⁶²	Li X	36155410	2022
50	Effect of species, concentration and volume of local anesthetics on intervertebral disk degeneration in rats with discoblock. ⁶²	Wang W...Xu G	36152221	2022

Sources

Genes for Intervertebral Disc Disease

Genes related to Intervertebral Disc Disease (6 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	712.68	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11308397 16133074 14644861 (more) 15167667
2	CILP	Cartilage Intermediate Layer Protein	Protein Coding	693.57	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	15864306 16413503 17220213 (more) 19569011
3	ASPN	Asporin	Protein Coding	692.59	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵ GeneCards inferred via : Disorders Summaries (show sections)	15640800 17024313 18304494
4	THBS2	Thrombospondin 2	Protein Coding	682.78	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵ GeneCards inferred via : Disorders (show sections)	18455130
5	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	675	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵	17999364
6	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	338.56	Causative variation ⁷³ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16133074 14644861 17024315 (more) 15167667 10411504 11118298
7	CENPP	Centromere Protein P	Protein Coding	25	Risk factor ⁵	15640800 17024313 18304494
8	THBS2-AS1	THBS2 Antisense RNA 1	RNA Gene	25	Risk factor ⁵	18455130
9	IL1B	Interleukin 1 Beta	Protein Coding	12.4	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17681918
10	MMP9	Matrix Metallopeptidase 9	Protein Coding	7.78	GeneCards inferred via : Disorders (show sections)
11	VDR	Vitamin D Receptor	Protein Coding	6.33	Novoseek inferred ⁵³	14644861
12	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	6.27	Novoseek inferred ⁵³	15994869
13	BMP2	Bone Morphogenetic Protein 2	Protein Coding	6	Novoseek inferred ⁵³	19411467 15198497

Sources

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

Sources

Expression for Intervertebral Disc Disease

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

Sources

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	Signal Transduction ⁶⁶	13.32	THBS2 MMP9 COL9A3 COL9A2 COL1A1 COL11A1
2	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.82	COL9A3 COL9A2 COL1A1 COL11A1 BMP2
3	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.68	THBS2 COL9A3 COL9A2 COL1A1 COL11A1
4	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen degradation ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴	12.54	MMP9 COL9A3 COL9A2 COL1A1 COL11A1
5	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.22	THBS2 MMP9 COL9A3 COL9A2 COL1A1 COL11A1
6	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	11.89	ASPN COL1A1 COL9A2 COL9A3
7	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	11.81	MMP9 COL9A3 COL9A2 COL1A1 COL11A1 BMP2
8	Senescence and autophagy in cancer ⁷⁴	11.71	IL1B COL1A1 BMP2
9	Signaling by PDGF ⁶⁶ Show member pathways Downstream signal transduction ⁶⁶	11.61	THBS2 COL9A3 COL9A2
10	Burn wound healing ⁷⁴	11.51	MMP9 IL1B COL1A1
11	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.23	VDR IL1B COL1A1
12	Prostaglandin signaling ⁷⁴	11.01	MMP9 IL1B
13	Oligodendrocyte specification and differentiation, leading to myelin components for CNS ⁷⁴	11	IL1B BMP2
14	Syndecan-1-mediated signaling events ⁶¹	10.97	MMP9 COL1A1 COL11A1
15	IL1 and megakaryocytes in obesity ⁷⁴	10.93	MMP9 IL1B
16	miR-509-3p alteration of YAP1/ECM axis ⁷⁴	10.77	THBS2 COL1A1
17	G-protein signaling_Rap2B regulation pathway ²²	10.54	IL1B COL9A3 COL9A2 COL1A1 COL11A1 BMP2

Sources

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