| H01174 | |
| H番号 | H01174 |
| 名称 | 先天性下痢症 |
| 概要 | 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. |
| カテゴリ | 消化器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:20216094 著者 Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G タイトル Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. 雑誌 J Pediatr Gastroenterol Nutr 50:360-6 (2010) DOI:10.1097/MPG.0b013e3181d135ef PMID:21199752 (DIAR1-5) 著者 Chen CP, Chiang MC, Wang TH, Hsueh C, Chang SD, Tsai FJ, Wang CN, Chern SR, Wang W タイトル Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. 雑誌 Taiwan J Obstet Gynecol 49:487-94 (2010) DOI:10.1016/S1028-4559(10)60102-7 PMID:22436048 (DIAR6) 著者 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 タイトル Familial diarrhea syndrome caused by an activating GUCY2C mutation. 雑誌 N Engl J Med 366:1586-95 (2012) DOI:10.1056/NEJMoa1110132 PMID:23114594 (DIAR7) 著者 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 タイトル DGAT1 mutation is linked to a congenital diarrheal disorder. 雑誌 J Clin Invest 122:4680-4 (2012) DOI:10.1172/JCI64873 PMID:26358773 (DIAR8) 著者 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 タイトル Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. 雑誌 Hum Mol Genet 24:6614-23 (2015) DOI:10.1093/hmg/ddv367 PMID:29909964 (DIAR9) 著者 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 タイトル Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. 雑誌 Am J Hum Genet 103:131-137 (2018) DOI:10.1016/j.ajhg.2018.05.007 PMID:26207260 (DIAR10) 著者 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 タイトル Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. 雑誌 Cell Mol Gastroenterol Hepatol 1:381-394.e7 (2015) DOI:10.1016/j.jcmgh.2015.05.001 PMID:31217582 (DIAR11) 著者 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 タイトル Noncoding deletions reveal a gene that is critical for intestinal function. 雑誌 Nature 571:107-111 (2019) DOI:10.1038/s41586-019-1312-2 PMID:24726755 (DIAR12) 著者 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 タイトル Loss of syntaxin 3 causes variant microvillus inclusion disease. 雑誌 Gastroenterology 147:65-68.e10 (2014) DOI:10.1053/j.gastro.2014.04.002 PMID:33191500 (DIAR13) 著者 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 タイトル Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset. 雑誌 Clin Genet 99:376-383 (2021) DOI:10.1111/cge.13883 |