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Brain malformations with or without urinary tract defects

MedGen UID:
1003610
Concept ID:
CN322312
Disease or Syndrome
Synonym: Brain malformations and urinary tract defects
 
Gene (location): NFIA (1p31.3)
 
Monarch Initiative: MONDO:0100478
OMIM®: 613735

Definition

A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. [from MONDO]

Professional guidelines

PubMed

Nicolle LE, Gupta K, Bradley SF, Colgan R, DeMuri GP, Drekonja D, Eckert LO, Geerlings SE, Köves B, Hooton TM, Juthani-Mehta M, Knight SL, Saint S, Schaeffer AJ, Trautner B, Wullt B, Siemieniuk R
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Recent clinical studies

Etiology

Moosavi A, Kanekar S
Clin Perinatol 2022 Sep;49(3):603-621. Epub 2022 Aug 20 doi: 10.1016/j.clp.2022.04.003. PMID: 36113925
Mooney MA, Zabramski JM
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Klar N, Cohen B, Lin DDM
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Lawton MT, Rutledge WC, Kim H, Stapf C, Whitehead KJ, Li DY, Krings T, terBrugge K, Kondziolka D, Morgan MK, Moon K, Spetzler RF
Nat Rev Dis Primers 2015 May 28;1:15008. doi: 10.1038/nrdp.2015.8. PMID: 27188382
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK
Science 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396. PMID: 26785492Free PMC Article

Diagnosis

Chaudhari BP, Ho ML
Semin Pediatr Neurol 2022 Jul;42:100973. Epub 2022 Apr 22 doi: 10.1016/j.spen.2022.100973. PMID: 35868725
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK
Science 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396. PMID: 26785492Free PMC Article
Hawasli AH, Beaumont TL, Vogel TW, Woo AS, Leonard JR
J Neurosurg Pediatr 2014 Aug;14(2):200-2. Epub 2014 Jun 13 doi: 10.3171/2014.5.PEDS13688. PMID: 24926969

Therapy

Nguyen TN
Continuum (Minneap Minn) 2023 Apr 1;29(2):584-604. doi: 10.1212/CON.0000000000001247. PMID: 37039411
Herthelius M
Pediatr Nephrol 2023 Oct;38(10):3221-3227. Epub 2023 Mar 15 doi: 10.1007/s00467-023-05907-z. PMID: 36920569Free PMC Article
Huybrechts KF, Straub L, Karlsson P, Pazzagli L, Furu K, Gissler M, Hernandez-Diaz S, Nørgaard M, Zoega H, Bateman BT, Cesta CE, Cohen JM, Leinonen MK, Reutfors J, Selmer RM, Suarez EA, Ulrichsen SP, Kieler H
JAMA Psychiatry 2023 Feb 1;80(2):156-166. doi: 10.1001/jamapsychiatry.2022.4109. PMID: 36477338Free PMC Article
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Nicolle LE
Crit Care Clin 2013 Jul;29(3):699-715. doi: 10.1016/j.ccc.2013.03.014. PMID: 23830659

Prognosis

Rutledge C, Cooke DL, Hetts SW, Abla AA
Handb Clin Neurol 2021;176:171-178. doi: 10.1016/B978-0-444-64034-5.00020-1. PMID: 33272394
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK
Science 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396. PMID: 26785492Free PMC Article
Vajsar J, Schachter H
Orphanet J Rare Dis 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. PMID: 16887026Free PMC Article

Clinical prediction guides

Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
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Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I
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Atwal GS, Sarris CE, Spetzler RF
Handb Clin Neurol 2017;143:291-295. doi: 10.1016/B978-0-444-63640-9.00028-X. PMID: 28552152
Lawton MT, Rutledge WC, Kim H, Stapf C, Whitehead KJ, Li DY, Krings T, terBrugge K, Kondziolka D, Morgan MK, Moon K, Spetzler RF
Nat Rev Dis Primers 2015 May 28;1:15008. doi: 10.1038/nrdp.2015.8. PMID: 27188382
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606

Recent systematic reviews

Yang S, Gill PJ, Anwar MR, Nurse K, Mahood Q, Borkhoff CM, Bijelic V, Parkin PC, Mahant S; Canadian Paediatric Inpatient Research Network (PIRN)
JAMA Pediatr 2023 Aug 1;177(8):764-773. doi: 10.1001/jamapediatrics.2023.1387. PMID: 37252727Free PMC Article
Alves F, Kalinowski P, Ayton S
Neurology 2023 May 16;100(20):e2114-e2124. Epub 2023 Mar 27 doi: 10.1212/WNL.0000000000207156. PMID: 36973044Free PMC Article
Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Eliakim-Raz N, Yahav D, Paul M, Leibovici L
J Antimicrob Chemother 2013 Oct;68(10):2183-91. Epub 2013 May 21 doi: 10.1093/jac/dkt177. PMID: 23696620

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