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Increased urinary type 1 collagen N-terminal telopeptide level

MedGen UID:
1696523
Concept ID:
C5139193
Finding
Synonyms: Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine; Increased urine NTx level
 
HPO: HP:0032208

Definition

An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased urinary type 1 collagen N-terminal telopeptide level

Conditions with this feature

Tall stature-scoliosis-macrodactyly of the great toes syndrome
MedGen UID:
863127
Concept ID:
C4014690
Disease or Syndrome
Miura-type epiphyseal chondrodysplasia (ECDM) is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis (Miura et al., 2014). Multiple extra epiphyses are present in the hands (Boudin et al., 2018). Mutation in the NPR3 gene (108962) results in Boudin-Mortier syndrome (BOMOS; 619543), a similar phenotype of tall stature, arachnodactyly, elongated great toes, and multiple extra epiphyses.

Professional guidelines

PubMed

Niimi R, Kono T, Nishihara A, Hasegawa M, Kono T, Sudo A
Clin Drug Investig 2017 Jun;37(6):551-557. doi: 10.1007/s40261-017-0511-6. PMID: 28247298
Niimi R, Kono T, Nishihara A, Hasegawa M, Kono T, Sudo A
Osteoporos Int 2016 Sep;27(9):2845-2853. Epub 2016 Apr 7 doi: 10.1007/s00198-016-3581-z. PMID: 27055464
Iwamoto J, Uzawa M
Clin Rheumatol 2016 Jan;35(1):205-12. Epub 2014 Nov 1 doi: 10.1007/s10067-014-2812-y. PMID: 25367347

Recent clinical studies

Etiology

Hagemans FJA, Larsson S, Reijman M, Frobell RB, Struglics A, Meuffels DE
Am J Sports Med 2021 Nov;49(13):3534-3543. Epub 2021 Sep 30 doi: 10.1177/03635465211042310. PMID: 34591687Free PMC Article
Nakamura Y, Suzuki T, Yoshida T, Yamazaki H, Kato H
Nutrients 2017 Apr 26;9(5) doi: 10.3390/nu9050428. PMID: 28445420Free PMC Article
Niimi R, Kono T, Nishihara A, Hasegawa M, Kono T, Sudo A
Clin Drug Investig 2017 Jun;37(6):551-557. doi: 10.1007/s40261-017-0511-6. PMID: 28247298
Niimi R, Kono T, Nishihara A, Hasegawa M, Kono T, Sudo A
Osteoporos Int 2016 Sep;27(9):2845-2853. Epub 2016 Apr 7 doi: 10.1007/s00198-016-3581-z. PMID: 27055464
Niimi R, Kono T, Nishihara A, Hasegawa M, Matsumine A, Kono T, Sudo A
Osteoporos Int 2015 Apr;26(4):1303-9. Epub 2015 Jan 8 doi: 10.1007/s00198-014-3001-1. PMID: 25567777

Diagnosis

Kunisaki C, Tanaka Y, Kosaka T, Miyamoto H, Sato S, Suematsu H, Yukawa N, Sato K, Izumisawa Y, Akiyama H, Taguri M, Yamanaka T, Endo I
Digestion 2017;95(2):162-171. Epub 2017 Feb 18 doi: 10.1159/000458755. PMID: 28214864
Lester JE, Brown JE, Hannon RA, Ellis SP, Horsman JM, Purohit OP, Coleman RE
Bone 2010 Mar;46(3):801-5. Epub 2009 Nov 18 doi: 10.1016/j.bone.2009.11.016. PMID: 19931437
Karga H, Papaioannou G, Polymeris A, Papamichael K, Karpouza A, Samouilidou E, Papaioannou P
J Bone Miner Metab 2010;28(1):35-41. Epub 2009 Jun 23 doi: 10.1007/s00774-009-0098-y. PMID: 19548061
Edwall L, Carlström K, Jonasson AF
Neurourol Urodyn 2009;28(6):516-20. doi: 10.1002/nau.20710. PMID: 19260092
Takahara K, Kamimura M, Hashidate H, Uchiyama S, Nakagawa H
J Orthop Sci 2007 May;12(3):219-26. Epub 2007 May 31 doi: 10.1007/s00776-007-1113-6. PMID: 17530373

Therapy

Nakamura Y, Suzuki T, Yoshida T, Yamazaki H, Kato H
Nutrients 2017 Apr 26;9(5) doi: 10.3390/nu9050428. PMID: 28445420Free PMC Article
Niimi R, Kono T, Nishihara A, Hasegawa M, Kono T, Sudo A
Clin Drug Investig 2017 Jun;37(6):551-557. doi: 10.1007/s40261-017-0511-6. PMID: 28247298
Niimi R, Kono T, Nishihara A, Hasegawa M, Kono T, Sudo A
Osteoporos Int 2016 Sep;27(9):2845-2853. Epub 2016 Apr 7 doi: 10.1007/s00198-016-3581-z. PMID: 27055464
Niimi R, Kono T, Nishihara A, Hasegawa M, Matsumine A, Kono T, Sudo A
Osteoporos Int 2016 May;27(5):1869-74. Epub 2016 Jan 13 doi: 10.1007/s00198-015-3479-1. PMID: 26759334
Niimi R, Kono T, Nishihara A, Hasegawa M, Matsumine A, Kono T, Sudo A
Osteoporos Int 2015 Apr;26(4):1303-9. Epub 2015 Jan 8 doi: 10.1007/s00198-014-3001-1. PMID: 25567777

Prognosis

Ivaska KK, McGuigan FE, Malmgren L, Gerdhem P, Johansson H, Kanis JA, Akesson KE
Calcif Tissue Int 2022 Sep;111(3):288-299. Epub 2022 Jun 24 doi: 10.1007/s00223-022-00996-8. PMID: 35750934Free PMC Article
Saag K, Cosman F, De Villiers T, Langdahl B, Scott BB, Denker AE, Pong A, Santora AC
Osteoporos Int 2021 Sep;32(9):1879-1888. Epub 2021 Feb 19 doi: 10.1007/s00198-020-05785-3. PMID: 33606045
Fleishaker DL, Mukherjee A, Whaley FS, Daniel S, Zeiher BG
BMC Musculoskelet Disord 2016 Jul 16;17:293. doi: 10.1186/s12891-016-1135-3. PMID: 27424036Free PMC Article
Dalskov SM, Müller M, Ritz C, Damsgaard CT, Papadaki A, Saris WH, Astrup A, Michaelsen KF, Mølgaard C; DiOGenes
Br J Nutr 2014 Apr 14;111(7):1253-62. Epub 2014 Feb 6 doi: 10.1017/S0007114513003760. PMID: 24503413
Yamazaki S, Ichimura S, Iwamoto J, Takeda T, Toyama Y
J Bone Miner Metab 2004;22(5):500-8. doi: 10.1007/s00774-004-0514-2. PMID: 15316873

Clinical prediction guides

Ivaska KK, McGuigan FE, Malmgren L, Gerdhem P, Johansson H, Kanis JA, Akesson KE
Calcif Tissue Int 2022 Sep;111(3):288-299. Epub 2022 Jun 24 doi: 10.1007/s00223-022-00996-8. PMID: 35750934Free PMC Article
Saag K, Cosman F, De Villiers T, Langdahl B, Scott BB, Denker AE, Pong A, Santora AC
Osteoporos Int 2021 Sep;32(9):1879-1888. Epub 2021 Feb 19 doi: 10.1007/s00198-020-05785-3. PMID: 33606045
Nakamura Y, Suzuki T, Yoshida T, Yamazaki H, Kato H
Nutrients 2017 Apr 26;9(5) doi: 10.3390/nu9050428. PMID: 28445420Free PMC Article
Alcaraz A, González-López R, Morote J, de la Piedra C, Meseguer C, Esteban E, Climent M, González-Gragera B, Alvarez-Ossorio JL, Chirivella I, Mellado B, Lara PC, Vázquez F, Contreras JA, Carles J, Murias A, Calderero V, Comet-Batlle J, González-Del Alba A, León-Mateos L, Mañas A, Segarra J, Lassa A, González-Enguita C, Méndez MJ, Samper P, Unda M, Mahillo-Fernández I, Bellmunt J; TUGAMO GROUP
Br J Cancer 2013 Jul 9;109(1):121-30. Epub 2013 Jun 25 doi: 10.1038/bjc.2013.272. PMID: 23799855Free PMC Article
Cerdá Gabaroi D, Peris P, Monegal A, Albaladejo C, Martínez MA, Muxí A, Martínez de Osaba MJ, Surís X, Guañabens N
Menopause 2010 Jan-Feb;17(1):135-9. doi: 10.1097/gme.0b013e3181ade8e5. PMID: 19593233

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