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Congenital intestinal transport defect

MedGen UID:
1826131
•Concept ID:
C5681747
•
Disease or Syndrome
Orphanet: ORPHA104003

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital intestinal transport defect

Professional guidelines

PubMed

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.
Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G
J Pediatr Gastroenterol Nutr 2010 Apr;50(4):360-6. doi: 10.1097/MPG.0b013e3181d135ef. PMID: 20216094
Congenital atresia and stenosis of the duodenum: the impact of a prenatal diagnosis.
Miro J, Bard H
Am J Obstet Gynecol 1988 Mar;158(3 Pt 1):555-9. doi: 10.1016/0002-9378(88)90024-5. PMID: 3279785
Immediate management structural malformations in the neonatal period.
Nadler HL, Hazinski T
Compr Ther 1979 Jun;5(6):7-12. PMID: 156613

Recent clinical studies

Etiology

Congenital Diarrheal Diseases.
Younis M, Rastogi R, Chugh A, Rastogi S, Aly H
Clin Perinatol 2020 Jun;47(2):301-321. Epub 2020 Mar 5 doi: 10.1016/j.clp.2020.02.007. PMID: 32439113
Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge.
Posovszky C
Best Pract Res Clin Gastroenterol 2016 Apr;30(2):187-211. Epub 2016 Mar 11 doi: 10.1016/j.bpg.2016.03.004. PMID: 27086885
Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.
Janecke AR, Heinz-Erian P, Müller T
J Pediatr Gastroenterol Nutr 2016 Aug;63(2):170-6. doi: 10.1097/MPG.0000000000001139. PMID: 26835907
Junctional ectopic tachycardia after congenital heart surgery.
Cools E, Missant C
Acta Anaesthesiol Belg 2014;65(1):1-8. PMID: 24988822
Congenital diarrheal disorders: an updated diagnostic approach.
Terrin G, Tomaiuolo R, Passariello A, Elce A, Amato F, Di Costanzo M, Castaldo G, Canani RB
Int J Mol Sci 2012;13(4):4168-4185. Epub 2012 Mar 29 doi: 10.3390/ijms13044168. PMID: 22605972Free PMC Article

Diagnosis

Congenital Diarrheal Diseases.
Younis M, Rastogi R, Chugh A, Rastogi S, Aly H
Clin Perinatol 2020 Jun;47(2):301-321. Epub 2020 Mar 5 doi: 10.1016/j.clp.2020.02.007. PMID: 32439113
Chylomicron retention disease: genetics, biochemistry, and clinical spectrum.
Levy E, Poinsot P, Spahis S
Curr Opin Lipidol 2019 Apr;30(2):134-139. doi: 10.1097/MOL.0000000000000578. PMID: 30640893
Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, Muise AM, Goldenring JR, Avitzur Y, Martín MG; PediCODE Consortium
Gastroenterology 2018 Jun;154(8):2045-2059.e6. Epub 2018 Apr 12 doi: 10.1053/j.gastro.2018.03.067. PMID: 29654747Free PMC Article
Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge.
Posovszky C
Best Pract Res Clin Gastroenterol 2016 Apr;30(2):187-211. Epub 2016 Mar 11 doi: 10.1016/j.bpg.2016.03.004. PMID: 27086885
Junctional ectopic tachycardia after congenital heart surgery.
Cools E, Missant C
Acta Anaesthesiol Belg 2014;65(1):1-8. PMID: 24988822

Therapy

Development of a multivariable prediction model for congenital unilateral absence of the vas deferens in male partners of infertile couples.
Brusq C, Mieusset R, Hamdi SM
Andrology 2022 Feb;10(2):262-269. Epub 2021 Sep 27 doi: 10.1111/andr.13106. PMID: 34510807
Junctional ectopic tachycardia after congenital heart surgery.
Cools E, Missant C
Acta Anaesthesiol Belg 2014;65(1):1-8. PMID: 24988822
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C
Am J Hematol 2014 Mar;89(3):320-4. doi: 10.1002/ajh.23619. PMID: 24166850
Congenital folate malabsorption.
Corbeel L, Van den Berghe G, Jaeken J, Van Tornout J, Eeckels R
Eur J Pediatr 1985 Mar;143(4):284-90. doi: 10.1007/BF00442302. PMID: 3987728
The renal lesion in congenital chloride diarrhea.
Holmberg C, Perheentupa J, Pasternack A
J Pediatr 1977 Nov;91(5):738-43. doi: 10.1016/s0022-3476(77)81026-3. PMID: 909012

Prognosis

Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience.
Hoşnut FÖ, Sahin GE, Ozyazıcı A, Olgac A, Aksu AU
Z Geburtshilfe Neonatol 2022 Oct;226(5):311-318. Epub 2022 May 16 doi: 10.1055/a-1774-5005. PMID: 35576965
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M
J Clin Invest 2022 May 16;132(10) doi: 10.1172/JCI154997. PMID: 35575086Free PMC Article
Bowel Dilation Diagnosed Prenatally.
Chouikh T, Mottet N, Lenoir M, Chaussy Y
J Pediatr 2017 Nov;190:284-284.e1. Epub 2017 Sep 13 doi: 10.1016/j.jpeds.2017.07.003. PMID: 28917956
Recent progress in congenital diarrheal disorders.
Canani RB, Terrin G
Curr Gastroenterol Rep 2011 Jun;13(3):257-64. doi: 10.1007/s11894-011-0188-6. PMID: 21494839
Congenital chloride diarrhoea.
Holmberg C
Clin Gastroenterol 1986 Jul;15(3):583-602. PMID: 3527496

Clinical prediction guides

UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M
J Clin Invest 2022 May 16;132(10) doi: 10.1172/JCI154997. PMID: 35575086Free PMC Article
Development of a multivariable prediction model for congenital unilateral absence of the vas deferens in male partners of infertile couples.
Brusq C, Mieusset R, Hamdi SM
Andrology 2022 Feb;10(2):262-269. Epub 2021 Sep 27 doi: 10.1111/andr.13106. PMID: 34510807
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Klee KMC, Janecke AR, Civan HA, Rosipal Š, Heinz-Erian P, Huber LA, Müller T, Vogel GF
Hum Genet 2020 Oct;139(10):1247-1259. Epub 2020 Apr 18 doi: 10.1007/s00439-020-02168-w. PMID: 32306098Free PMC Article
Overview of the SLC26 family and associated diseases.
Kere J
Novartis Found Symp 2006;273:2-11; discussion 11-8, 261-4. PMID: 17120758
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
Santer R, Hillebrand G, Steinmann B, Schaub J
Gastroenterology 2003 Jan;124(1):34-9. doi: 10.1053/gast.2003.50009. PMID: 12512027

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