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Diarrhea 9(DIAR9)

MedGen UID:
1648425
•Concept ID:
C4748517
•
Disease or Syndrome
Synonyms: DIAR9; DIARRHEA 9
 
Gene (location): WNT2B (1p13.2)
 
Monarch Initiative: MONDO:0032575
OMIM®: 618168

Definition

Diarrhea-9 (DIAR9) is a form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption (O'Connell et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Diarrhea
MedGen UID:
8360
•Concept ID:
C0011991
•
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
See: Feature record | Search on this feature
Villous atrophy
MedGen UID:
154306
•Concept ID:
C0554101
•
Finding
The enteric villi are atrophic or absent.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Comparative Efficacy of Tegoprazan vs Esomeprazole/Sodium Bicarbonate for the Treatment of Helicobacter pylori Infection.
Park CH, Park JH, Jung YS
Clin Transl Gastroenterol 2023 Nov 1;14(11):e00632. doi: 10.14309/ctg.0000000000000632. PMID: 37561041Free PMC Article
Treatment-Related Adverse Events of PD-1 and PD-L1 Inhibitors in Clinical Trials: A Systematic Review and Meta-analysis.
Wang Y, Zhou S, Yang F, Qi X, Wang X, Guan X, Shen C, Duma N, Vera Aguilera J, Chintakuntlawar A, Price KA, Molina JR, Pagliaro LC, Halfdanarson TR, Grothey A, Markovic SN, Nowakowski GS, Ansell SM, Wang ML
JAMA Oncol 2019 Jul 1;5(7):1008-1019. doi: 10.1001/jamaoncol.2019.0393. PMID: 31021376Free PMC Article
Irinotecan and temozolamide treatment for relapsed Ewing sarcoma: a single-center experience and review of the literature.
Kurucu N, Sari N, Ilhan IE
Pediatr Hematol Oncol 2015 Feb;32(1):50-9. Epub 2014 Sep 24 doi: 10.3109/08880018.2014.954070. PMID: 25252096

Recent clinical studies

Etiology

Phase 1/2 study of monalizumab plus durvalumab in patients with advanced solid tumors.
Patel SP, Alonso-Gordoa T, Banerjee S, Wang D, Naidoo J, Standifer NE, Palmer DC, Cheng LY, Kourtesis P, Ascierto ML, Das M, Diamond JR, Hellmann MD, Carneiro BA
J Immunother Cancer 2024 Feb 2;12(2) doi: 10.1136/jitc-2023-007340. PMID: 38309722Free PMC Article
Comparative Efficacy of Tegoprazan vs Esomeprazole/Sodium Bicarbonate for the Treatment of Helicobacter pylori Infection.
Park CH, Park JH, Jung YS
Clin Transl Gastroenterol 2023 Nov 1;14(11):e00632. doi: 10.14309/ctg.0000000000000632. PMID: 37561041Free PMC Article
The low-dose colchicine in patients after non-CABG cardiac surgery: a randomized controlled trial.
Pan T, Jiang CY, Zhang H, Han XK, Zhang HT, Jiang XY, Chen W, Wang K, Fan FD, Pan J, Zhou Q, Wang CS, Zhang L, Wang DJ
Crit Care 2023 Feb 7;27(1):49. doi: 10.1186/s13054-023-04341-9. PMID: 36747296Free PMC Article
Sacituzumab Govitecan in Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative Metastatic Breast Cancer.
Rugo HS, Bardia A, Marmé F, Cortes J, Schmid P, Loirat D, Trédan O, Ciruelos E, Dalenc F, Pardo PG, Jhaveri KL, Delaney R, Fu O, Lin L, Verret W, Tolaney SM
J Clin Oncol 2022 Oct 10;40(29):3365-3376. Epub 2022 Aug 26 doi: 10.1200/JCO.22.01002. PMID: 36027558
Therapy of Small Cell Lung Cancer (SCLC) with a Topoisomerase-I-inhibiting Antibody-Drug Conjugate (ADC) Targeting Trop-2, Sacituzumab Govitecan.
Gray JE, Heist RS, Starodub AN, Camidge DR, Kio EA, Masters GA, Purcell WT, Guarino MJ, Misleh J, Schneider CJ, Schneider BJ, Ocean A, Johnson T, Gandhi L, Kalinsky K, Scheff R, Messersmith WA, Govindan SV, Maliakal PP, Mudenda B, Wegener WA, Sharkey RM, Goldenberg DM
Clin Cancer Res 2017 Oct 1;23(19):5711-5719. Epub 2017 Jul 5 doi: 10.1158/1078-0432.CCR-17-0933. PMID: 28679770

Diagnosis

Postmarketing surveillance of nivolumab plus ipilimumab combination therapy in Japanese patients with unresectable malignant melanoma.
Yamazaki N, Kiyohara Y, Uhara H, Tsuchida T, Yoshida A, Yamada T, Komoto A
J Dermatol 2023 Sep;50(9):1108-1120. Epub 2023 Jun 22 doi: 10.1111/1346-8138.16820. PMID: 37350027
Clinical manifestations of COVID-19 in the general population: systematic review.
da Rosa Mesquita R, Francelino Silva Junior LC, Santos Santana FM, Farias de Oliveira T, Campos Alcântara R, Monteiro Arnozo G, Rodrigues da Silva Filho E, Galdino Dos Santos AG, Oliveira da Cunha EJ, Salgueiro de Aquino SH, Freire de Souza CD
Wien Klin Wochenschr 2021 Apr;133(7-8):377-382. Epub 2020 Nov 26 doi: 10.1007/s00508-020-01760-4. PMID: 33242148Free PMC Article
Therapy of Small Cell Lung Cancer (SCLC) with a Topoisomerase-I-inhibiting Antibody-Drug Conjugate (ADC) Targeting Trop-2, Sacituzumab Govitecan.
Gray JE, Heist RS, Starodub AN, Camidge DR, Kio EA, Masters GA, Purcell WT, Guarino MJ, Misleh J, Schneider CJ, Schneider BJ, Ocean A, Johnson T, Gandhi L, Kalinsky K, Scheff R, Messersmith WA, Govindan SV, Maliakal PP, Mudenda B, Wegener WA, Sharkey RM, Goldenberg DM
Clin Cancer Res 2017 Oct 1;23(19):5711-5719. Epub 2017 Jul 5 doi: 10.1158/1078-0432.CCR-17-0933. PMID: 28679770
Strongyloidiasis: a diagnosis more common than we think.
Koczka CP, Hindy P, Goodman A, Gress F
Eur J Gastroenterol Hepatol 2012 Jul;24(7):860-2. doi: 10.1097/MEG.0b013e3283543ea0. PMID: 22555259
Risk factors associated with the development of ischemic colitis.
Cubiella Fernández J, Núñez Calvo L, González Vázquez E, García García MJ, Alves Pérez MT, Martínez Silva I, Fernández Seara J
World J Gastroenterol 2010 Sep 28;16(36):4564-9. doi: 10.3748/wjg.v16.i36.4564. PMID: 20857527Free PMC Article

Therapy

First-in-human study of oleclumab, a potent, selective anti-CD73 monoclonal antibody, alone or in combination with durvalumab in patients with advanced solid tumors.
Bendell J, LoRusso P, Overman M, Noonan AM, Kim DW, Strickler JH, Kim SW, Clarke S, George TJ, Grimison PS, Barve M, Amin M, Desai J, Wise-Draper T, Eck S, Jiang Y, Khan AA, Wu Y, Martin P, Cooper ZA, Elgeioushi N, Mueller N, Kumar R, Patel SP
Cancer Immunol Immunother 2023 Jul;72(7):2443-2458. Epub 2023 Apr 5 doi: 10.1007/s00262-023-03430-6. PMID: 37016126Free PMC Article
Sacituzumab Govitecan in Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative Metastatic Breast Cancer.
Rugo HS, Bardia A, Marmé F, Cortes J, Schmid P, Loirat D, Trédan O, Ciruelos E, Dalenc F, Pardo PG, Jhaveri KL, Delaney R, Fu O, Lin L, Verret W, Tolaney SM
J Clin Oncol 2022 Oct 10;40(29):3365-3376. Epub 2022 Aug 26 doi: 10.1200/JCO.22.01002. PMID: 36027558
Treatment-Related Adverse Events of PD-1 and PD-L1 Inhibitors in Clinical Trials: A Systematic Review and Meta-analysis.
Wang Y, Zhou S, Yang F, Qi X, Wang X, Guan X, Shen C, Duma N, Vera Aguilera J, Chintakuntlawar A, Price KA, Molina JR, Pagliaro LC, Halfdanarson TR, Grothey A, Markovic SN, Nowakowski GS, Ansell SM, Wang ML
JAMA Oncol 2019 Jul 1;5(7):1008-1019. doi: 10.1001/jamaoncol.2019.0393. PMID: 31021376Free PMC Article
MONARCH 3: Abemaciclib As Initial Therapy for Advanced Breast Cancer.
Goetz MP, Toi M, Campone M, Sohn J, Paluch-Shimon S, Huober J, Park IH, Trédan O, Chen SC, Manso L, Freedman OC, Garnica Jaliffe G, Forrester T, Frenzel M, Barriga S, Smith IC, Bourayou N, Di Leo A
J Clin Oncol 2017 Nov 10;35(32):3638-3646. Epub 2017 Oct 2 doi: 10.1200/JCO.2017.75.6155. PMID: 28968163
Phase I study of safety and pharmacokinetics of the anti-MUC16 antibody-drug conjugate DMUC5754A in patients with platinum-resistant ovarian cancer or unresectable pancreatic cancer.
Liu JF, Moore KN, Birrer MJ, Berlin S, Matulonis UA, Infante JR, Wolpin B, Poon KA, Firestein R, Xu J, Kahn R, Wang Y, Wood K, Darbonne WC, Lackner MR, Kelley SK, Lu X, Choi YJ, Maslyar D, Humke EW, Burris HA
Ann Oncol 2016 Nov;27(11):2124-2130. doi: 10.1093/annonc/mdw401. PMID: 27793850

Prognosis

Capivasertib and fulvestrant for patients with hormone receptor-positive advanced breast cancer: characterization, time course, and management of frequent adverse events from the phase III CAPItello-291 study.
Rugo HS, Oliveira M, Howell SJ, Dalenc F, Cortes J, Gomez HL, Hu X, Jhaveri KL, Krivorotko P, Loibl S, Morales Murillo S, Nowecki Z, Okera M, Park YH, Sohn J, Toi M, Iwata H, Yousef S, Zhukova L, Logan J, Twomey K, Khatun M, D'Cruz CM, Turner NC
ESMO Open 2024 Sep;9(9):103697. Epub 2024 Sep 5 doi: 10.1016/j.esmoop.2024.103697. PMID: 39241495Free PMC Article
The low-dose colchicine in patients after non-CABG cardiac surgery: a randomized controlled trial.
Pan T, Jiang CY, Zhang H, Han XK, Zhang HT, Jiang XY, Chen W, Wang K, Fan FD, Pan J, Zhou Q, Wang CS, Zhang L, Wang DJ
Crit Care 2023 Feb 7;27(1):49. doi: 10.1186/s13054-023-04341-9. PMID: 36747296Free PMC Article
MONARCH 3: Abemaciclib As Initial Therapy for Advanced Breast Cancer.
Goetz MP, Toi M, Campone M, Sohn J, Paluch-Shimon S, Huober J, Park IH, Trédan O, Chen SC, Manso L, Freedman OC, Garnica Jaliffe G, Forrester T, Frenzel M, Barriga S, Smith IC, Bourayou N, Di Leo A
J Clin Oncol 2017 Nov 10;35(32):3638-3646. Epub 2017 Oct 2 doi: 10.1200/JCO.2017.75.6155. PMID: 28968163
Health problems among Thai tourists returning from India.
Olanwijitwong J, Piyaphanee W, Poovorawan K, Lawpoolsri S, Chanthavanich P, Wichainprasast P, Tantawichien T
J Travel Med 2017 Jul 1;24(4) doi: 10.1093/jtm/tax013. PMID: 28426113
Irinotecan and temozolamide treatment for relapsed Ewing sarcoma: a single-center experience and review of the literature.
Kurucu N, Sari N, Ilhan IE
Pediatr Hematol Oncol 2015 Feb;32(1):50-9. Epub 2014 Sep 24 doi: 10.3109/08880018.2014.954070. PMID: 25252096

Clinical prediction guides

Phase 1/2 study of monalizumab plus durvalumab in patients with advanced solid tumors.
Patel SP, Alonso-Gordoa T, Banerjee S, Wang D, Naidoo J, Standifer NE, Palmer DC, Cheng LY, Kourtesis P, Ascierto ML, Das M, Diamond JR, Hellmann MD, Carneiro BA
J Immunother Cancer 2024 Feb 2;12(2) doi: 10.1136/jitc-2023-007340. PMID: 38309722Free PMC Article
First-in-human study of oleclumab, a potent, selective anti-CD73 monoclonal antibody, alone or in combination with durvalumab in patients with advanced solid tumors.
Bendell J, LoRusso P, Overman M, Noonan AM, Kim DW, Strickler JH, Kim SW, Clarke S, George TJ, Grimison PS, Barve M, Amin M, Desai J, Wise-Draper T, Eck S, Jiang Y, Khan AA, Wu Y, Martin P, Cooper ZA, Elgeioushi N, Mueller N, Kumar R, Patel SP
Cancer Immunol Immunother 2023 Jul;72(7):2443-2458. Epub 2023 Apr 5 doi: 10.1007/s00262-023-03430-6. PMID: 37016126Free PMC Article
The low-dose colchicine in patients after non-CABG cardiac surgery: a randomized controlled trial.
Pan T, Jiang CY, Zhang H, Han XK, Zhang HT, Jiang XY, Chen W, Wang K, Fan FD, Pan J, Zhou Q, Wang CS, Zhang L, Wang DJ
Crit Care 2023 Feb 7;27(1):49. doi: 10.1186/s13054-023-04341-9. PMID: 36747296Free PMC Article
Safety and efficacy of pembrolizumab plus lenvatinib versus pembrolizumab and lenvatinib monotherapies in cancers: A systematic review.
Mo DC, Luo PH, Huang SX, Wang HL, Huang JF
Int Immunopharmacol 2021 Feb;91:107281. Epub 2020 Dec 16 doi: 10.1016/j.intimp.2020.107281. PMID: 33338862
Phase I study of safety and pharmacokinetics of the anti-MUC16 antibody-drug conjugate DMUC5754A in patients with platinum-resistant ovarian cancer or unresectable pancreatic cancer.
Liu JF, Moore KN, Birrer MJ, Berlin S, Matulonis UA, Infante JR, Wolpin B, Poon KA, Firestein R, Xu J, Kahn R, Wang Y, Wood K, Darbonne WC, Lackner MR, Kelley SK, Lu X, Choi YJ, Maslyar D, Humke EW, Burris HA
Ann Oncol 2016 Nov;27(11):2124-2130. doi: 10.1093/annonc/mdw401. PMID: 27793850

Recent systematic reviews

Safety and efficacy of pembrolizumab plus lenvatinib versus pembrolizumab and lenvatinib monotherapies in cancers: A systematic review.
Mo DC, Luo PH, Huang SX, Wang HL, Huang JF
Int Immunopharmacol 2021 Feb;91:107281. Epub 2020 Dec 16 doi: 10.1016/j.intimp.2020.107281. PMID: 33338862
Clinical manifestations of COVID-19 in the general population: systematic review.
da Rosa Mesquita R, Francelino Silva Junior LC, Santos Santana FM, Farias de Oliveira T, Campos Alcântara R, Monteiro Arnozo G, Rodrigues da Silva Filho E, Galdino Dos Santos AG, Oliveira da Cunha EJ, Salgueiro de Aquino SH, Freire de Souza CD
Wien Klin Wochenschr 2021 Apr;133(7-8):377-382. Epub 2020 Nov 26 doi: 10.1007/s00508-020-01760-4. PMID: 33242148Free PMC Article
Immune-related adverse events following administration of anti-cytotoxic T-lymphocyte-associated protein-4 drugs: a comprehensive systematic review and meta-analysis.
Xu H, Tan P, Zheng X, Huang Y, Lin T, Wei Q, Ai J, Yang L
Drug Des Devel Ther 2019;13:2215-2234. Epub 2019 Jul 4 doi: 10.2147/DDDT.S196316. PMID: 31308633Free PMC Article
Treatment-Related Adverse Events of PD-1 and PD-L1 Inhibitors in Clinical Trials: A Systematic Review and Meta-analysis.
Wang Y, Zhou S, Yang F, Qi X, Wang X, Guan X, Shen C, Duma N, Vera Aguilera J, Chintakuntlawar A, Price KA, Molina JR, Pagliaro LC, Halfdanarson TR, Grothey A, Markovic SN, Nowakowski GS, Ansell SM, Wang ML
JAMA Oncol 2019 Jul 1;5(7):1008-1019. doi: 10.1001/jamaoncol.2019.0393. PMID: 31021376Free PMC Article

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