U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Developmental anomaly of metabolic origin

MedGen UID:
1826093
Concept ID:
C5680623
Congenital Abnormality
Synonym: developmental anomaly of metabolic origin
 
Monarch Initiative: MONDO:0015327
Orphanet: ORPHA139009

Professional guidelines

PubMed

Gerli MFM, Calà G, Beesley MA, Sina B, Tullie L, Sun KY, Panariello F, Michielin F, Davidson JR, Russo FM, Jones BC, Lee DDH, Savvidis S, Xenakis T, Simcock IC, Straatman-Iwanowska AA, Hirst RA, David AL, O'Callaghan C, Olivo A, Eaton S, Loukogeorgakis SP, Cacchiarelli D, Deprest J, Li VSW, Giobbe GG, De Coppi P
Nat Med 2024 Mar;30(3):875-887. Epub 2024 Mar 4 doi: 10.1038/s41591-024-02807-z. PMID: 38438734Free PMC Article
Stener-Victorin E, Deng Q
Nat Rev Endocrinol 2021 Sep;17(9):521-533. Epub 2021 Jul 7 doi: 10.1038/s41574-021-00517-x. PMID: 34234312
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H
Am J Respir Crit Care Med 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20 doi: 10.1164/rccm.200601-084OC. PMID: 16627867Free PMC Article

Recent clinical studies

Etiology

Morgenthau A, Frishman WH
Cardiol Rev 2018 Mar/Apr;26(2):86-92. doi: 10.1097/CRD.0000000000000170. PMID: 29045289
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
MacLennan AH, Thompson SC, Gecz J
Am J Obstet Gynecol 2015 Dec;213(6):779-88. Epub 2015 May 21 doi: 10.1016/j.ajog.2015.05.034. PMID: 26003063
Czeizel AE, Dudás I, Vereczkey A, Bánhidy F
Nutrients 2013 Nov 21;5(11):4760-75. doi: 10.3390/nu5114760. PMID: 24284617Free PMC Article
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J
Blood 2011 Apr 7;117(14):3759-69. Epub 2011 Jan 27 doi: 10.1182/blood-2010-08-299917. PMID: 21273304Free PMC Article

Diagnosis

Wang K, Li Y, Chen Y
Front Endocrinol (Lausanne) 2023;14:1273542. Epub 2023 Dec 13 doi: 10.3389/fendo.2023.1273542. PMID: 38152131Free PMC Article
Hirschberg AL
J Clin Endocrinol Metab 2023 Apr 13;108(5):1243-1253. doi: 10.1210/clinem/dgac673. PMID: 36409990Free PMC Article
Dapas M, Dunaif A
Endocr Rev 2022 Nov 25;43(6):927-965. doi: 10.1210/endrev/bnac001. PMID: 35026001Free PMC Article
D'Acunzo P, Pérez-González R, Kim Y, Hargash T, Miller C, Alldred MJ, Erdjument-Bromage H, Penikalapati SC, Pawlik M, Saito M, Saito M, Ginsberg SD, Neubert TA, Goulbourne CN, Levy E
Sci Adv 2021 Feb;7(7) Epub 2021 Feb 12 doi: 10.1126/sciadv.abe5085. PMID: 33579698Free PMC Article
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V; Nantes Referral Center for inherited cardiac arrhythmia, Behr ER, Barc J, Bezzina CR
Genet Med 2021 Jan;23(1):47-58. Epub 2020 Sep 7 doi: 10.1038/s41436-020-00946-5. PMID: 32893267Free PMC Article

Therapy

Stárka L, Dušková M, Vítků J
Physiol Res 2020 Sep 30;69(Suppl 2):S187-S192. doi: 10.33549/physiolres.934516. PMID: 33094617Free PMC Article
Leruez-Ville M, Ville Y
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:97-107. Epub 2016 Oct 20 doi: 10.1016/j.bpobgyn.2016.10.005. PMID: 27923540
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
Czeizel AE, Dudás I, Vereczkey A, Bánhidy F
Nutrients 2013 Nov 21;5(11):4760-75. doi: 10.3390/nu5114760. PMID: 24284617Free PMC Article
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258

Prognosis

Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R
Brain 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. PMID: 35148379Free PMC Article
Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G
J Med Genet 2018 Aug;55(8):505-514. Epub 2018 Jun 29 doi: 10.1136/jmedgenet-2018-105266. PMID: 29959180
Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
Leruez-Ville M, Ville Y
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:97-107. Epub 2016 Oct 20 doi: 10.1016/j.bpobgyn.2016.10.005. PMID: 27923540
Trombelli L, Farina R
Minerva Stomatol 2013 Jun;62(6):207-34. PMID: 23828258

Clinical prediction guides

Kobow K, Blümcke I
Neurosci Lett 2018 Feb 22;667:40-46. Epub 2017 Jan 19 doi: 10.1016/j.neulet.2017.01.012. PMID: 28111355
Leruez-Ville M, Ville Y
Best Pract Res Clin Obstet Gynaecol 2017 Jan;38:97-107. Epub 2016 Oct 20 doi: 10.1016/j.bpobgyn.2016.10.005. PMID: 27923540
Trifanescu R, Ansorge O, Wass JA, Grossman AB, Karavitaki N
Clin Endocrinol (Oxf) 2012 Feb;76(2):151-60. doi: 10.1111/j.1365-2265.2011.04235.x. PMID: 21951110
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J
Blood 2011 Apr 7;117(14):3759-69. Epub 2011 Jan 27 doi: 10.1182/blood-2010-08-299917. PMID: 21273304Free PMC Article
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H
Am J Respir Crit Care Med 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20 doi: 10.1164/rccm.200601-084OC. PMID: 16627867Free PMC Article

Recent systematic reviews

Aman LCS, Lester SD, Holland AJ, Fletcher PC
Orphanet J Rare Dis 2024 Feb 15;19(1):69. doi: 10.1186/s13023-024-03026-y. PMID: 38360662Free PMC Article
Kucinska-Chahwan AM, Roszkowski T, Geremek M, Paczkowska MA, Ciebiera M, Bijok J, Massalska D, Panek G, Siemion K, Nowakowska BA
Ginekol Pol 2021;92(1):51-56. Epub 2021 Jan 15 doi: 10.5603/GP.a2020.0190. PMID: 33448012
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T
Orphanet J Rare Dis 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. PMID: 32958032Free PMC Article
Hamad L, Kreidieh K, Hamdan MB, Nakouzi G, Yazbek S
J Immigr Minor Health 2020 Dec;22(6):1347-1367. doi: 10.1007/s10903-020-00987-7. PMID: 32172498
Bervini S, Herzog H
Front Neuroendocrinol 2013 Apr;34(2):107-19. Epub 2013 Feb 4 doi: 10.1016/j.yfrne.2013.01.002. PMID: 23391702

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...