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Cystic fibrosis-gastritis-megaloblastic anemia syndrome

MedGen UID:
812585
Concept ID:
C3806255
Disease or Syndrome
Synonym: CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009062
OMIM®: 219721
Orphanet: ORPHA2575

Definition

A rare genetic disease characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCystic fibrosis-gastritis-megaloblastic anemia syndrome

Professional guidelines

PubMed

Cesaro S, Donadieu J, Cipolli M, Dalle JH, Styczynski J, Masetti R, Strahm B, Mauro M, Alseraihy A, Aljurf M, Dufour C, de la Tour RP
Transplant Cell Ther 2022 Oct;28(10):637-649. Epub 2022 Jul 20 doi: 10.1016/j.jtct.2022.07.010. PMID: 35870777
Farrell MH, Sims AM, La Pean Kirschner A, Farrell PM, Tarini BA
J Pediatr 2020 Sep;224:44-50.e1. doi: 10.1016/j.jpeds.2020.03.042. PMID: 32826027Free PMC Article
Childs B
Annu Rev Genet 1975;9:67-89. doi: 10.1146/annurev.ge.09.120175.000435. PMID: 129030

Recent clinical studies

Etiology

Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Di Pasquale MF, Sotgiu G, Gramegna A, Radovanovic D, Terraneo S, Reyes LF, Rupp J, González Del Castillo J, Blasi F, Aliberti S, Restrepo MI; GLIMP Investigators
Clin Infect Dis 2019 Apr 24;68(9):1482-1493. doi: 10.1093/cid/ciy723. PMID: 31222287Free PMC Article
Behrendt N, Galan HL
Curr Opin Obstet Gynecol 2016 Apr;28(2):79-85. doi: 10.1097/GCO.0000000000000247. PMID: 26871537
Siddiqui Z, Osayande AS
Prim Care 2011 Sep;38(3):395-414; vii. doi: 10.1016/j.pop.2011.05.002. PMID: 21872088

Diagnosis

Aoun M, Jadoul M, Anders HJ
Am J Kidney Dis 2024 Oct;84(4):495-506. Epub 2024 Apr 15 doi: 10.1053/j.ajkd.2024.02.015. PMID: 38621632
Armstrong ME, Thomas CP
Curr Opin Nephrol Hypertens 2019 Mar;28(2):183-194. doi: 10.1097/MNH.0000000000000486. PMID: 30601180
Frank KM
Crit Care Nurs Clin North Am 2018 Dec;30(4):499-507. Epub 2018 Oct 16 doi: 10.1016/j.cnc.2018.07.006. PMID: 30447809
Babakhanian Z, Donovan JA
Gastrointest Endosc Clin N Am 2013 Apr;23(2):333-46. Epub 2013 Jan 30 doi: 10.1016/j.giec.2012.12.001. PMID: 23540964
Merrill DC, Weiner C
Curr Opin Obstet Gynecol 1992 Apr;4(2):273-9. PMID: 1571488

Therapy

Ontario Health (Quality)
Ont Health Technol Assess Ser 2023;23(4):1-398. Epub 2023 Aug 10 PMID: 37637488Free PMC Article
Roy NB, Carpenter A, Dale-Harris I, Dorée C, Estcourt LJ
Cochrane Database Syst Rev 2023 Aug 4;8(8):CD012380. doi: 10.1002/14651858.CD012380.pub3. PMID: 37539955Free PMC Article
Knight-Madden JM, Hambleton IR
Cochrane Database Syst Rev 2022 Dec 2;12(12):CD003733. doi: 10.1002/14651858.CD003733.pub5. PMID: 36458811Free PMC Article
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Nevitt SJ, Jones AP, Howard J
Cochrane Database Syst Rev 2017 Apr 20;4(4):CD002202. doi: 10.1002/14651858.CD002202.pub2. PMID: 28426137Free PMC Article

Prognosis

Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Borry P, Fryns JP, Schotsmans P, Dierickx K
Genet Couns 2005;16(4):341-52. PMID: 16440876
Mieli-Vergani G, Vergani D
Best Pract Res Clin Gastroenterol 2001 Aug;15(4):681-90. doi: 10.1053/bega.2001.0213. PMID: 11492976
Hildebrandt F, Waldherr R, Kutt R, Brandis M
Clin Investig 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. PMID: 1450635
Mino M
Int J Vitam Nutr Res Suppl 1989;30:69-80. PMID: 2507708

Clinical prediction guides

Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Nevitt SJ, Jones AP, Howard J
Cochrane Database Syst Rev 2017 Apr 20;4(4):CD002202. doi: 10.1002/14651858.CD002202.pub2. PMID: 28426137Free PMC Article
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2016 Aug 9;(8):CD004344. doi: 10.1002/14651858.CD004344.pub6. PMID: 27502327
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2014 Jul 10;(7):CD004344. doi: 10.1002/14651858.CD004344.pub5. PMID: 25009086
Martí-Carvajal AJ, Solà I, Agreda-Pérez LH
Cochrane Database Syst Rev 2012 May 16;(5):CD004344. doi: 10.1002/14651858.CD004344.pub4. PMID: 22592696

Recent systematic reviews

Ontario Health (Quality)
Ont Health Technol Assess Ser 2023;23(4):1-398. Epub 2023 Aug 10 PMID: 37637488Free PMC Article
Roy NB, Carpenter A, Dale-Harris I, Dorée C, Estcourt LJ
Cochrane Database Syst Rev 2023 Aug 4;8(8):CD012380. doi: 10.1002/14651858.CD012380.pub3. PMID: 37539955Free PMC Article
Knight-Madden JM, Hambleton IR
Cochrane Database Syst Rev 2022 Dec 2;12(12):CD003733. doi: 10.1002/14651858.CD003733.pub5. PMID: 36458811Free PMC Article
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
Nevitt SJ, Jones AP, Howard J
Cochrane Database Syst Rev 2017 Apr 20;4(4):CD002202. doi: 10.1002/14651858.CD002202.pub2. PMID: 28426137Free PMC Article

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