| H01174 | |
| H number | H01174 |
| Name | Congenital diarrhea |
| Description | Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis. |
| Category | Digestive system disease |
| Network | - |
| Gene | (DIAR1) SLC26A3 [HSA:1811] [KO:K14078] (DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357] (DIAR3) SPINT2 [HSA:10653] [KO:K23421] (DIAR4) NEUROG3 [HSA:50674] [KO:K08028] (DIAR5) EPCAM [HSA:4072] [KO:K06737] (DIAR6) GUCY2C [HSA:2984] [KO:K12320] (DIAR7) DGAT1 [HSA:8694] [KO:K11155] (DIAR8) SLC9A3 [HSA:6550] [KO:K12040] (DIAR9) WNT2B [HSA:7482] [KO:K00182] (DIAR10) PLVAP [HSA:83483] [KO:K17309] (DIAR11) PERCC1 [HSA:105371045] (DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486] (DIAR13) ACSL5 [HSA:51703] [KO:K01897] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: KB8C ICD-10: P78.3 MeSH: C536210 C537470 C562576 OMIM: 214700 251850 270420 610370 613217 614616 615863 616868 618168 618183 618662 619445 620357 |
| Reference | PMID:20216094 AUTHORS Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G TITLE Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. JOURNAL J Pediatr Gastroenterol Nutr 50:360-6 (2010) DOI:10.1097/MPG.0b013e3181d135ef PMID:21199752 (DIAR1-5) AUTHORS Chen CP, Chiang MC, Wang TH, Hsueh C, Chang SD, Tsai FJ, Wang CN, Chern SR, Wang W TITLE Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. JOURNAL Taiwan J Obstet Gynecol 49:487-94 (2010) DOI:10.1016/S1028-4559(10)60102-7 PMID:22436048 (DIAR6) AUTHORS Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Havik B, Tonder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM TITLE Familial diarrhea syndrome caused by an activating GUCY2C mutation. JOURNAL N Engl J Med 366:1586-95 (2012) DOI:10.1056/NEJMoa1110132 PMID:23114594 (DIAR7) AUTHORS Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr TITLE DGAT1 mutation is linked to a congenital diarrheal disorder. JOURNAL J Clin Invest 122:4680-4 (2012) DOI:10.1172/JCI64873 PMID:26358773 (DIAR8) AUTHORS Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Muller T TITLE Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. JOURNAL Hum Mol Genet 24:6614-23 (2015) DOI:10.1093/hmg/ddv367 PMID:29909964 (DIAR9) AUTHORS O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB TITLE Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. JOURNAL Am J Hum Genet 103:131-137 (2018) DOI:10.1016/j.ajhg.2018.05.007 PMID:26207260 (DIAR10) AUTHORS Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM TITLE Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. JOURNAL Cell Mol Gastroenterol Hepatol 1:381-394.e7 (2015) DOI:10.1016/j.jcmgh.2015.05.001 PMID:31217582 (DIAR11) AUTHORS Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA TITLE Noncoding deletions reveal a gene that is critical for intestinal function. JOURNAL Nature 571:107-111 (2019) DOI:10.1038/s41586-019-1312-2 PMID:24726755 (DIAR12) AUTHORS Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thoni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Muller T, Middendorp S TITLE Loss of syntaxin 3 causes variant microvillus inclusion disease. JOURNAL Gastroenterology 147:65-68.e10 (2014) DOI:10.1053/j.gastro.2014.04.002 PMID:33191500 (DIAR13) AUTHORS Al-Thihli K, Afting C, Al-Hashmi N, Mohammed M, Sliwinski S, Al Shibli N, Al-Said K, Al-Kasbi G, Al-Kharusi K, Merle U, Fullekrug J, Al-Maawali A TITLE Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset. JOURNAL Clin Genet 99:376-383 (2021) DOI:10.1111/cge.13883 |