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Intervertebral disk degeneration

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

Definition

The presence of degenerative changes of intervertebral disk. [from HPO]

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.
DiGeorge syndrome
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Aneurysm-osteoarthritis syndrome
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.
Loeys-Dietz syndrome 6
MedGen UID:
1794251
Concept ID:
C5562041
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.

Professional guidelines

PubMed

Ye C, Zhang Z, Chen R, Wang J
Rev Assoc Med Bras (1992) 2021 Jun;67(6):811-815. doi: 10.1590/1806-9282.20201018. PMID: 34709322
Hubert MG, Vadala G, Sowa G, Studer RK, Kang JD
J Am Acad Orthop Surg 2008 Jun;16(6):312-9. doi: 10.5435/00124635-200806000-00003. PMID: 18524982
Borenstein DG
Curr Opin Rheumatol 1997 Mar;9(2):144-50. doi: 10.1097/00002281-199703000-00011. PMID: 9135919

Recent clinical studies

Etiology

Schönnagel L, Camino-Willhuber G, Braun S, Zhu J, Tani S, Guven AE, Caffard T, Chiapparelli E, Arzani A, Haffer H, Muellner M, Shue J, Duculan R, Bendersky M, Cammisa FP, Girardi FP, Sama AA, Mancuso CA, Hughes AP
Spine (Phila Pa 1976) 2024 Apr 1;49(7):478-485. Epub 2023 Oct 5 doi: 10.1097/BRS.0000000000004847. PMID: 37796191
Xiang Q, Wang J, Cheng Z, Zhao K, Gan W, Chen Y, Zhang Y
Spine (Phila Pa 1976) 2023 Dec 1;48(23):E401-E408. Epub 2023 Aug 9 doi: 10.1097/BRS.0000000000004777. PMID: 37555796Free PMC Article
Zhao Y, Wang H, Li Z, Wang Z, Huo Y, Yang S, Ding W
World Neurosurg 2021 Dec;156:68-75. Epub 2021 Sep 24 doi: 10.1016/j.wneu.2021.09.080. PMID: 34571241
Gou S, Oxentenko SC, Eldrige JS, Xiao L, Pingree MJ, Wang Z, Perez-Terzic C, Qu W
Am J Phys Med Rehabil 2014 Nov;93(11 Suppl 3):S122-31. doi: 10.1097/PHM.0000000000000152. PMID: 25122106
Inoue N, Espinoza Orías AA
Orthop Clin North Am 2011 Oct;42(4):487-99, vii. doi: 10.1016/j.ocl.2011.07.001. PMID: 21944586Free PMC Article

Diagnosis

Zhao J, Wang J, Xu H, Hu W, Shi F, Fan Z, Zhou C, Mu H
Calcif Tissue Int 2024 Mar;114(3):228-236. Epub 2023 Nov 17 doi: 10.1007/s00223-023-01165-1. PMID: 37978069Free PMC Article
Yang Z, Yuan ZZ, Ma XL
Front Immunol 2023;14:1136727. Epub 2023 May 30 doi: 10.3389/fimmu.2023.1136727. PMID: 37325631Free PMC Article
Yang W, Yu XH, Wang C, He WS, Zhang SJ, Yan YG, Zhang J, Xiang YX, Wang WJ
Clin Chim Acta 2015 Oct 23;450:262-72. Epub 2015 Sep 2 doi: 10.1016/j.cca.2015.08.029. PMID: 26341894
Gou S, Oxentenko SC, Eldrige JS, Xiao L, Pingree MJ, Wang Z, Perez-Terzic C, Qu W
Am J Phys Med Rehabil 2014 Nov;93(11 Suppl 3):S122-31. doi: 10.1097/PHM.0000000000000152. PMID: 25122106
Majumdar S, Link TM, Steinbach LS, Hu S, Kurhanewicz J
Orthop Clin North Am 2011 Oct;42(4):501-11, viii. doi: 10.1016/j.ocl.2011.07.007. PMID: 21944587

Therapy

Zhao J, Wang J, Xu H, Hu W, Shi F, Fan Z, Zhou C, Mu H
Calcif Tissue Int 2024 Mar;114(3):228-236. Epub 2023 Nov 17 doi: 10.1007/s00223-023-01165-1. PMID: 37978069Free PMC Article
Shnayder NA, Ashhotov AV, Trefilova VV, Nurgaliev ZA, Novitsky MA, Vaiman EE, Petrova MM, Nasyrova RF
Int J Mol Sci 2023 Jan 25;24(3) doi: 10.3390/ijms24032360. PMID: 36768679Free PMC Article
Tschauner S, Singer G, Weitzer CU, Castellani C, Till H, Sorantin E, Wegmann H
Cartilage 2022 Dec;13(4):77-86. Epub 2022 Oct 18 doi: 10.1177/19476035221126354. PMID: 36254621Free PMC Article
Han I, Ropper AE, Konya D, Kabatas S, Toktas Z, Aljuboori Z, Zeng X, Chi JH, Zafonte R, Teng YD
Cell Transplant 2015;24(11):2197-208. Epub 2015 Jul 28 doi: 10.3727/096368915X688650. PMID: 26223943
Woods BI, Vo N, Sowa G, Kang JD
Orthop Clin North Am 2011 Oct;42(4):563-74, ix. doi: 10.1016/j.ocl.2011.07.002. PMID: 21944592

Prognosis

Fujii T, Daimon K, Ozaki M, Suzuki S, Takahashi Y, Tsuji O, Nagoshi N, Yagi M, Michikawa T, Matsumoto M, Nakamura M, Watanabe K
Spine (Phila Pa 1976) 2023 Jun 15;48(12):815-824. Epub 2023 Apr 6 doi: 10.1097/BRS.0000000000004671. PMID: 37026757
Shnayder NA, Ashhotov AV, Trefilova VV, Nurgaliev ZA, Novitsky MA, Vaiman EE, Petrova MM, Nasyrova RF
Int J Mol Sci 2023 Jan 25;24(3) doi: 10.3390/ijms24032360. PMID: 36768679Free PMC Article
Sherafatian M, Abdollahpour HR, Ghaffarpasand F, Yaghmaei S, Azadegan M, Heidari M
World Neurosurg 2019 Jun;126:389-397. Epub 2019 Mar 20 doi: 10.1016/j.wneu.2019.03.120. PMID: 30904808
Gou S, Oxentenko SC, Eldrige JS, Xiao L, Pingree MJ, Wang Z, Perez-Terzic C, Qu W
Am J Phys Med Rehabil 2014 Nov;93(11 Suppl 3):S122-31. doi: 10.1097/PHM.0000000000000152. PMID: 25122106
Woods BI, Vo N, Sowa G, Kang JD
Orthop Clin North Am 2011 Oct;42(4):563-74, ix. doi: 10.1016/j.ocl.2011.07.002. PMID: 21944592

Clinical prediction guides

Tschauner S, Singer G, Weitzer CU, Castellani C, Till H, Sorantin E, Wegmann H
Cartilage 2022 Dec;13(4):77-86. Epub 2022 Oct 18 doi: 10.1177/19476035221126354. PMID: 36254621Free PMC Article
Zhao Y, Wang H, Li Z, Wang Z, Huo Y, Yang S, Ding W
World Neurosurg 2021 Dec;156:68-75. Epub 2021 Sep 24 doi: 10.1016/j.wneu.2021.09.080. PMID: 34571241
Xue J, Hu B, Xing W, Li F, Huang Z, Zheng W, Wang B, Zhu Y, Yang X
J Orthop Surg Res 2021 Jan 14;16(1):55. doi: 10.1186/s13018-020-02194-4. PMID: 33446250Free PMC Article
Sherafatian M, Abdollahpour HR, Ghaffarpasand F, Yaghmaei S, Azadegan M, Heidari M
World Neurosurg 2019 Jun;126:389-397. Epub 2019 Mar 20 doi: 10.1016/j.wneu.2019.03.120. PMID: 30904808
Zhang SJ, Yang W, Wang C, He WS, Deng HY, Yan YG, Zhang J, Xiang YX, Wang WJ
Clin Chim Acta 2016 Jun 1;457:27-35. Epub 2016 Mar 24 doi: 10.1016/j.cca.2016.03.016. PMID: 27018178

Recent systematic reviews

Faraj SS, Holewijn RM, van Hooff ML, de Kleuver M, Pellisé F, Haanstra TM
Eur Spine J 2016 Aug;25(8):2347-58. Epub 2016 May 24 doi: 10.1007/s00586-016-4619-9. PMID: 27220970

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