U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Fanconi renotubular syndrome 5(FRTS5)

MedGen UID:
1711127
Concept ID:
C5394473
Disease or Syndrome
Synonym: FANCONI RENOTUBULAR SYNDROME, ACADIAN VARIANT
 
NDUFAF6 (8q22.1)
 
Monarch Initiative: MONDO:0030056
OMIM®: 618913

Definition

Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600). [from OMIM]

Clinical features

From HPO

Professional guidelines

PubMed

Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ
J Inherit Metab Dis 2024 Sep;47(5):1018-1027. Epub 2024 May 27 doi: 10.1002/jimd.12752. PMID: 38802119
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. PMID: 38697731
Altintas B, Giri N, McReynolds LJ, Best A, Alter BP
Haematologica 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. PMID: 35417938Free PMC Article

Recent clinical studies

Etiology

Quiroz-Aldave JE, Durand-Vásquez MDC, Chávez-Vásquez FS, Rodríguez-Angulo AN, Gonzáles-Saldaña SE, Alcalde-Loyola CC, Coronado-Arroyo JC, Zavaleta-Gutiérrez FE, Concepción-Urteaga LA, Haro-Varas JC, Concepción-Zavaleta MJ
Expert Rev Anticancer Ther 2024 Jan-Feb;24(1-2):5-14. Epub 2024 Feb 12 doi: 10.1080/14737140.2023.2290196. PMID: 38031874
Altintas B, Giri N, McReynolds LJ, Best A, Alter BP
Haematologica 2023 Jan 1;108(1):69-82. doi: 10.3324/haematol.2021.279981. PMID: 35417938Free PMC Article
Mendoza O, Bourdoncle A, Boulé JB, Brosh RM Jr, Mergny JL
Nucleic Acids Res 2016 Mar 18;44(5):1989-2006. Epub 2016 Feb 15 doi: 10.1093/nar/gkw079. PMID: 26883636Free PMC Article
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Duran M, Loof NE, Ketting D, Dorland L
J Clin Chem Clin Biochem 1990 May;28(5):359-63. PMID: 2199597

Diagnosis

Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. PMID: 38697731
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS
Nat Rev Dis Primers 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. PMID: 31537806Free PMC Article
Kitterer D, Schwab M, Alscher MD, Braun N, Latus J
Pediatr Nephrol 2015 Sep;30(9):1407-23. Epub 2014 Nov 5 doi: 10.1007/s00467-014-2958-5. PMID: 25370778
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. PMID: 16722554Free PMC Article

Therapy

Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ
J Inherit Metab Dis 2024 Sep;47(5):1018-1027. Epub 2024 May 27 doi: 10.1002/jimd.12752. PMID: 38802119
Quiroz-Aldave JE, Durand-Vásquez MDC, Chávez-Vásquez FS, Rodríguez-Angulo AN, Gonzáles-Saldaña SE, Alcalde-Loyola CC, Coronado-Arroyo JC, Zavaleta-Gutiérrez FE, Concepción-Urteaga LA, Haro-Varas JC, Concepción-Zavaleta MJ
Expert Rev Anticancer Ther 2024 Jan-Feb;24(1-2):5-14. Epub 2024 Feb 12 doi: 10.1080/14737140.2023.2290196. PMID: 38031874
Satty AM, Klein E, Mauguen A, Kunvarjee B, Boelens JJ, Cancio M, Curran KJ, Kernan NA, Prockop SE, Scaradavou A, Spitzer B, Tamari R, Ruggiero J, Torok-Castanza J, Mehta PA, O'Reilly RJ, Boulad F
Bone Marrow Transplant 2024 Jan;59(1):23-33. Epub 2023 Sep 29 doi: 10.1038/s41409-023-02113-1. PMID: 37773270
Sturla Álvarez DA, Sánchez Marcos E, de Lucas Collantes C, Cantarín Extremera V, Soto Insuga V, Aparicio López C
Pediatr Neurol 2022 May;130:53-59. Epub 2022 Mar 12 doi: 10.1016/j.pediatrneurol.2022.03.001. PMID: 35364461
Luni FK, Khan AR, Prashar R, Vetteth S, Duggan JM
Am J Ther 2016 Mar-Apr;23(2):e558-60. doi: 10.1097/MJT.0000000000000095. PMID: 24914503

Prognosis

Satty AM, Klein E, Mauguen A, Kunvarjee B, Boelens JJ, Cancio M, Curran KJ, Kernan NA, Prockop SE, Scaradavou A, Spitzer B, Tamari R, Ruggiero J, Torok-Castanza J, Mehta PA, O'Reilly RJ, Boulad F
Bone Marrow Transplant 2024 Jan;59(1):23-33. Epub 2023 Sep 29 doi: 10.1038/s41409-023-02113-1. PMID: 37773270
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. PMID: 16722554Free PMC Article
Halperin EC
Int J Radiat Oncol Biol Phys 2000 Apr 1;47(1):171-8. doi: 10.1016/s0360-3016(00)00424-7. PMID: 10758320

Clinical prediction guides

Demko N, Geyer JT
Cytometry B Clin Cytom 2024 Sep;106(5):331-346. Epub 2024 Jun 28 doi: 10.1002/cyto.b.22192. PMID: 38940080
Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ
J Inherit Metab Dis 2024 Sep;47(5):1018-1027. Epub 2024 May 27 doi: 10.1002/jimd.12752. PMID: 38802119
Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W
Orphanet J Rare Dis 2024 Feb 16;19(1):75. doi: 10.1186/s13023-024-03070-8. PMID: 38365697Free PMC Article
Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M
Pediatr Nephrol 2023 Dec;38(12):3989-3999. Epub 2023 Jul 7 doi: 10.1007/s00467-023-06058-x. PMID: 37415042Free PMC Article
Duran M, Loof NE, Ketting D, Dorland L
J Clin Chem Clin Biochem 1990 May;28(5):359-63. PMID: 2199597

Recent systematic reviews

Dos Santos ES, Pérez-de-Oliveira ME, Normando AGC, Gueiros LAM, Rogatto SR, Vargas PA, Lopes MA, da Silva Guerra EN, Leme AFP, Santos-Silva AR
Head Neck 2022 Dec;44(12):2925-2937. Epub 2022 Sep 16 doi: 10.1002/hed.27193. PMID: 36114663

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    External link. Please review our privacy policy.