Format

Send to:

Choose Destination

Intervertebral disc degeneration

MedGen UID:
102357
Concept ID:
C0158266
Disease or Syndrome
Synonyms: Degeneration of intervertebral disks; Degenerative disc disease; Degenerative intervertebral disk
SNOMED CT: Intervertebral disc degeneration (77547008); Degeneration of intervertebral disc (77547008); Degenerative disc disease (77547008)
 
HPO: HP:0008419
Monarch Initiative: MONDO:0011385

Definition

Any disease of a degenerative nature that affects the intervertebral disc. [from NCI]

Conditions with this feature

Alkaptonuria
MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.
Loeys-Dietz syndrome 3
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

Recent clinical studies

Etiology

Xue J, Song Y, Liu H, Liu L, Li T, Gong Q
Medicine (Baltimore) 2021 May 21;100(20):e25922. doi: 10.1097/MD.0000000000025922. PMID: 34011063Free PMC Article
Su Y, Ren D, Liu D, Li J, Wang T, Qi W, Wang Y, Chen Y, Wang P
Medicine (Baltimore) 2021 Apr 30;100(17):e25636. doi: 10.1097/MD.0000000000025636. PMID: 33907120Free PMC Article
Wu T, Jia X, Feng H, Wu D
Biochem Biophys Res Commun 2021 Mar 19;545:54-61. Epub 2021 Feb 2 doi: 10.1016/j.bbrc.2021.01.057. PMID: 33545632
Rodrigues LMR, Oliveira LZ, Silva MBRD, Accardo CM, Giglio ABD, Pinhal MADS
Einstein (Sao Paulo) 2019 Aug 29;17(4):eAO4637. doi: 10.31744/einstein_journal/2019AO4637. PMID: 31482941Free PMC Article
Özcan-Ekşi EE, Ekşi MŞ, Akçal MA
World Neurosurg 2019 Feb;122:e1069-e1077. Epub 2018 Nov 9 doi: 10.1016/j.wneu.2018.10.229. PMID: 30415054

Diagnosis

Song Q, Zhang F, Wang K, Chen Z, Li Q, Liu Z, Shen H
Eur J Pharmacol 2021 Mar 15;895:173891. Epub 2021 Jan 19 doi: 10.1016/j.ejphar.2021.173891. PMID: 33482178
Li X, Liu X, Wang Y, Cao F, Chen Z, Hu Z, Yu B, Feng H, Ba Z, Liu T, Li H, Jiang B, Huang Y, Li L, Wu D
BMC Musculoskelet Disord 2020 Feb 5;21(1):77. doi: 10.1186/s12891-020-3091-1. PMID: 32024487Free PMC Article
Wang R, Xu C, Zhong H, Hu B, Wei L, Liu N, Zhang Y, Shi Q, Wang C, Qi M, Gu Y, Shen X, Tian Y, Liu Y, Cao P, Chen H, Yuan W
FASEB J 2020 Mar;34(3):3554-3569. Epub 2020 Jan 29 doi: 10.1096/fj.201902096R. PMID: 31997395
Rodrigues LMR, Oliveira LZ, Silva MBRD, Accardo CM, Giglio ABD, Pinhal MADS
Einstein (Sao Paulo) 2019 Aug 29;17(4):eAO4637. doi: 10.31744/einstein_journal/2019AO4637. PMID: 31482941Free PMC Article
Wang S, Wei J, Fan Y, Ding H, Tian H, Zhou X, Cheng L
Inflammation 2018 Oct;41(5):1852-1863. doi: 10.1007/s10753-018-0828-1. PMID: 29992506

Therapy

Su Y, Ren D, Liu D, Li J, Wang T, Qi W, Wang Y, Chen Y, Wang P
Medicine (Baltimore) 2021 Apr 30;100(17):e25636. doi: 10.1097/MD.0000000000025636. PMID: 33907120Free PMC Article
Feng SH, Xie F, Yao HY, Wu GB, Sun XY, Yang J
Ann Palliat Med 2021 Apr;10(4):3783-3792. Epub 2021 Mar 16 doi: 10.21037/apm-20-2586. PMID: 33752429
Xiao L, Xu SJ, Liu C, Wang J, Hu B, Xu HG
Life Sci 2021 Feb 15;267:118929. Epub 2021 Jan 11 doi: 10.1016/j.lfs.2020.118929. PMID: 33359244
Shang P, Tang Q, Hu Z, Huang S, Hu Y, Zhu J, Liu H
J Cell Mol Med 2020 Mar;24(6):3701-3711. Epub 2020 Feb 18 doi: 10.1111/jcmm.15074. PMID: 32068951Free PMC Article
Wang K, Chen T, Ying X, Zhang Z, Shao Z, Lin J, Xu T, Chen Y, Wang X, Chen J, Sheng S
Int Immunopharmacol 2019 Apr;69:398-407. Epub 2019 Feb 18 doi: 10.1016/j.intimp.2019.01.004. PMID: 30785069

Prognosis

Özcan-Ekşi EE, Yayla A, Orhun Ö, Turgut VU, Arslan HN, Ekşi MŞ
World Neurosurg 2021 Jun;150:e298-e304. Epub 2021 Mar 5 doi: 10.1016/j.wneu.2021.02.128. PMID: 33684588
Yuan Q, Wang X, Liu L, Cai Y, Zhao X, Ma H, Zhang Y
Stem Cells Dev 2020 Aug;29(16):1038-1058. Epub 2020 Jul 27 doi: 10.1089/scd.2020.0083. PMID: 32620067
Xu G, Liu C, Jiang J, Liang T, Yu C, Qin Z, Zhang Z, Lu Z, Zhan X
Epigenomics 2020 Jul;12(13):1095-1108. Epub 2020 Apr 14 doi: 10.2217/epi-2020-0079. PMID: 32285684
Er ZJ, Yin CF, Wang WJ, Chen XJ
Innate Immun 2020 Jul;26(5):341-350. Epub 2019 Dec 18 doi: 10.1177/1753425919895086. PMID: 31852328Free PMC Article
Xi Y, Ma J, Chen Y
Cell Biol Int 2020 Feb;44(2):583-592. Epub 2019 Nov 12 doi: 10.1002/cbin.11258. PMID: 31663655

Clinical prediction guides

Ding J, Zhang R, Li H, Ji Q, Cheng X, Thorne RF, Hondermarck H, Liu X, Shen C
Aging (Albany NY) 2021 Apr 6;13(7):10703-10723. doi: 10.18632/aging.202850. PMID: 33824228Free PMC Article
Wu T, Jia X, Feng H, Wu D
Biochem Biophys Res Commun 2021 Mar 19;545:54-61. Epub 2021 Feb 2 doi: 10.1016/j.bbrc.2021.01.057. PMID: 33545632
Li H, Li W, Liang B, Wei J, Yin D, Fan Q
Life Sci 2020 Dec 15;263:118567. Epub 2020 Oct 8 doi: 10.1016/j.lfs.2020.118567. PMID: 33038379
Chen X, Li Z, Xu D, Li S
J Gene Med 2020 Oct;22(10):e3231. Epub 2020 Jun 12 doi: 10.1002/jgm.3231. PMID: 32436632
Özcan-Ekşi EE, Ekşi MŞ, Akçal MA
World Neurosurg 2019 Feb;122:e1069-e1077. Epub 2018 Nov 9 doi: 10.1016/j.wneu.2018.10.229. PMID: 30415054

Recent systematic reviews

Xue J, Song Y, Liu H, Liu L, Li T, Gong Q
Medicine (Baltimore) 2021 May 21;100(20):e25922. doi: 10.1097/MD.0000000000025922. PMID: 34011063Free PMC Article
Hanaei S, Abdollahzade S, Sadr M, Mirbolouk MH, Fattahi E, Khoshnevisan A, Rezaei N
Br J Neurosurg 2020 Feb;34(1):66-71. Epub 2019 Dec 6 doi: 10.1080/02688697.2019.1698010. PMID: 32141366
Guo Y, Meng Y, Liu H, Wang B, Ding C, Rong X, Yang Y, Hong Y
Channels (Austin) 2019 Dec;13(1):367-373. doi: 10.1080/19336950.2019.1664038. PMID: 31526163Free PMC Article
Pekala PA, Henry BM, Taterra D, Piwowar M, Vikse J, Tubbs RS, Tomaszewski KA
J Clin Neurosci 2019 Feb;60:36-43. Epub 2018 Oct 9 doi: 10.1016/j.jocn.2018.09.028. PMID: 30309807
Pabalan N, Tabangay L, Jarjanazi H, Vieira LA, Dos Santos AA, Barbosa CP, Rodrigues LM, Bianco B
Genet Test Mol Biomarkers 2017 Jan;21(1):24-32. Epub 2016 Oct 31 doi: 10.1089/gtmb.2016.0054. PMID: 27797588

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center