DIAR6
MCID: DRR009
MIFTS: 46

Diarrhea 6 (DIAR6)

Categories: Gastrointestinal diseases, Genetic diseases, Infectious diseases, Nephrological diseases, Oral diseases, Rare diseases

Aliases & Classifications for Diarrhea 6

MalaCards integrated aliases for Diarrhea 6:

Name: Diarrhea 6 57 72 29 13 6 70
Diar6 57 72
Chronic Infantile Diarrhea Due to Guanylate Cyclase 2c Overactivity 58
Diarrhea, Type 6 39
Diarrhea 44

Characteristics:

Orphanet epidemiological data:

58
chronic infantile diarrhea due to guanylate cyclase 2c overactivity
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
diarrhea 6:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM® 57 614616
OMIM Phenotypic Series 57 PS214700
MeSH 44 D003967
ICD10 via Orphanet 33 P78.3
Orphanet 58 ORPHA314373
UMLS 70 C3553270

Summaries for Diarrhea 6

OMIM® : 57 Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). (614616) (Updated 05-Apr-2021)

MalaCards based summary : Diarrhea 6, also known as diar6, is related to ileus and meconium ileus. An important gene associated with Diarrhea 6 is GUCY2C (Guanylate Cyclase 2C). The drugs Acetylcholine and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and endothelial, and related phenotypes are abdominal pain and vitamin b12 deficiency

UniProtKB/Swiss-Prot : 72 Diarrhea 6: A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis.

Related Diseases for Diarrhea 6

Diseases in the Diarrhea family:

Diarrhea 6 Diarrhea 9
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity Inflammatory Diarrhea
Acute Diarrhea Congenital Diarrhea

Diseases related to Diarrhea 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1241)
# Related Disease Score Top Affiliating Genes
1 ileus 29.8 GUCY2C C12orf60
2 meconium ileus 29.2 GUCY2C C12orf60
3 diarrhea 29.2 GUCY2C C12orf60
4 trichohepatoenteric syndrome 1 11.7
5 diarrhea 2, with microvillus atrophy 11.7
6 diarrhea 5, with tufting enteropathy, congenital 11.6
7 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.6
8 diarrhea 1, secretory chloride, congenital 11.6
9 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 11.6
10 acute diarrhea 11.6
11 congenital chloride diarrhea 11.6
12 diarrhea 4, malabsorptive, congenital 11.5
13 diarrhea 8, secretory sodium, congenital 11.5
14 diarrhea 11, malabsorptive, congenital 11.5
15 diarrhea 9 11.4
16 secretory diarrhea 11.4
17 diarrhea 10, protein-losing enteropathy type 11.4
18 osmotic diarrhea 11.4
19 congenital diarrhea 7 with exudative enteropathy 11.3
20 chronic diarrhea due to guanylate cyclase 2c overactivity 11.3
21 hemolytic uremic syndrome, atypical 1 11.3
22 congenital diarrhea 11.3
23 cholera 11.3
24 irritable bowel syndrome 11.3
25 gastroenteritis 11.3
26 inflammatory diarrhea 11.3
27 satoyoshi syndrome 11.3
28 pancreatic cholera 11.3
29 vipoma 11.2
30 diarrhea 7, protein-losing enteropathy type 11.2
31 motility-related diarrhea 11.2
32 functional diarrhea 11.2
33 cryptosporidiosis 11.2
34 glucose/galactose malabsorption 11.2
35 shigellosis 11.1
36 celiac disease 1 11.1
37 salmonellosis 11.1
38 lactose intolerance 11.1
39 ulcerative colitis 11.1
40 encephalopathy, ethylmalonic 11.1
41 crohn's disease 11.1
42 hemolytic-uremic syndrome 11.1
43 collagenous colitis 11.1
44 folate malabsorption, hereditary 11.0
45 acrodermatitis enteropathica, zinc-deficiency type 11.0
46 zollinger-ellison syndrome 11.0
47 chylomicron retention disease 11.0
48 carcinoid syndrome 11.0
49 hyaline fibromatosis syndrome 11.0
50 rapadilino syndrome 11.0

Graphical network of the top 20 diseases related to Diarrhea 6:



Diseases related to Diarrhea 6

Symptoms & Phenotypes for Diarrhea 6

Human phenotypes related to Diarrhea 6:

31
# Description HPO Frequency HPO Source Accession
1 abdominal pain 31 occasional (7.5%) HP:0002027
2 vitamin b12 deficiency 31 occasional (7.5%) HP:0100502
3 diarrhea 31 HP:0002014

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
abdominal pain (in some patients)
diarrhea, chronic, early-onset mild
dehydration in infancy (in some patients)
metabolic acidosis in infancy (in some patients)
electrolyte disturbances in infancy (in some patients)
more
Metabolic Features:
metabolic acidosis in infancy (in some patients)
electrolyte disturbances in infancy (in some patients)

Laboratory Abnormalities:
vitamin b12 deficiency (in some patients)

Abdomen External Features:
meteorism (gaseous distention of the stomach or intestine)

Genitourinary Ureters:
urolithiasis (in some patients)

Clinical features from OMIM®:

614616 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diarrhea 6

Drugs for Diarrhea 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 420)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Donepezil Approved Phase 4 120014-06-4 3152
3
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
4
Colestipol Approved Phase 4 26658-42-4
5
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
6
Azithromycin Approved Phase 4 83905-01-5 447043 55185
7
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
8
Turmeric Approved, Experimental, Investigational Phase 4
9
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
10
Copper Approved, Investigational Phase 4 7440-50-8 27099
11
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
12
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
13
Iodine Approved, Investigational Phase 4 7553-56-2 807
14
Tocopherol Approved, Investigational Phase 4 1406-66-2
15
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
16
Pemetrexed Approved, Investigational Phase 4 150399-23-8, 137281-23-3 60843 446556
17
Ondansetron Approved Phase 4 99614-02-5 4595
18
Insulin aspart Approved Phase 4 116094-23-6 16132418
19
Simethicone Approved Phase 4 8050-81-5
20
Sodium citrate Approved, Investigational Phase 4 68-04-2
21
Alosetron Approved, Withdrawn Phase 4 122852-42-0 2099
22
Tegaserod Approved, Investigational, Withdrawn Phase 4 189188-57-6, 145158-71-0 122724
23
Ferrous fumarate Approved Phase 4 141-01-5
24
chenodeoxycholic acid Approved Phase 4 474-25-9 10133
25
Sulfamethoxazole Approved Phase 4 723-46-6 5329
26
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
27
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
28
Lactulose Approved Phase 4 4618-18-2 11333
29
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
30
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521
31
Fidaxomicin Approved Phase 4 873857-62-6
32
Metformin Approved Phase 4 657-24-9 4091 14219
33
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
34
Teicoplanin Approved, Investigational Phase 4 61036-62-2
35
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
36
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
37
Mycophenolic acid Approved Phase 4 24280-93-1 446541
38
Metronidazole Approved Phase 4 443-48-1 4173
39
Pancrelipase Approved, Investigational Phase 4 53608-75-6
40
Choline Approved, Nutraceutical Phase 4 62-49-7 305
41
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
42
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
43
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
44
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
45
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
46
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
47
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
48
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
49
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
50
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750

Interventional clinical trials:

(show top 50) (show all 849)
# Name Status NCT ID Phase Drugs
1 Prophylaxis of Gastrointestinal Infections in Newborn and Infants With a Suspension Containing the Probiotic Escherichia Coli Strain Nissle Unknown status NCT01469273 Phase 4 Mutaflor® Suspension
2 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
3 Changes in Microbiota and Metabolomic Profile Between Rifaximin Responders and Non-responders In Diarrhoea-Predominant Irritable Bowel Syndrome Unknown status NCT03557788 Phase 4 Rifaximin Oral Tablet
4 The Impact of Lactobacillus Preparation on the Incidence of Diarrhea in Intensive Care Unit-admitted Patients : Randomized Controlled Trial Unknown status NCT01792739 Phase 4 Lactobacillus casei variety rhamnosus granules;Placebo
5 Bacillus Particles Prevent More Children's Antibiotic-associated Diarrhea (AAD), Randomized, Double-blind, Controlled Clinical Trial Unknown status NCT02993419 Phase 4 Bacillus licheniformis Intervention
6 The Role of Short-course Ceftriaxone Therapy in the Treatment of Severe Nontyphoidal Salmonella Enterocolitis Unknown status NCT01278017 Phase 4 ceftriaxone
7 Comparing a Probiotic and Non-probiotic Intervention in Their Ability to Improve Bowel Habits of Residents in Nursing Homes Unknown status NCT02949882 Phase 4
8 Role Of Saccharomyces Boulardii In Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
9 Treatment Effect of Colesevelam for Bile Acid Diarrhoea - a Randomised Placebo-controlled Trial Unknown status NCT03876717 Phase 4 Colesevelam Hydrochloride;Placebo oral capsule
10 Non-specific Effects of Rabies Vaccine on the Incidence of Common Infectious Disease Episodes: a Randomized Controlled Trial Unknown status NCT03656198 Phase 4 Sterile Water Injection
11 STOP Trial - Sandostatin LAR Depot Trial for the Optimum Prevention of Chemotherapy Induced Diarrhea Completed NCT00050635 Phase 4 Sandostatin LAR Depot
12 Vitamin A and Zinc: Prevention of Pneumonia (VAZPOP) Study Completed NCT00228254 Phase 4 Zinc (12.5 mg/day);vitamin A 10,000 IU per week
13 Post-marketing Clinical Study of Ramosetron Hydrochloride (Irribow Tablets) - Double-blind, Parallel-group Comparative Study in Patients (Male) With Diarrhea-predominant Irritable Bowel Syndrome Completed NCT01225237 Phase 4 Ramosetron;Placebo
14 Efficacy and Safety of a New Oral Rehydration Solution (Hipp ORS 200 Apple) in Children With Acute Gastroenteritis: Randomized, Double-Blind Controlled Trial Completed NCT01467570 Phase 4
15 Delivery of Iron and Zinc Supplements: Evaluation of Interaction Effect on Biochemical and Clinical Outcomes Completed NCT00470158 Phase 4
16 Efficacy of Lactobacillus GG With Diosmectite in Treatment Children With Acute Gastroenteritis: A Double Blind Randomized, Placebo- Controlled Trial Completed NCT01657032 Phase 4
17 Study Title: Curcumin (Tumeric) in the Treatment of Irritable Bowel Syndrome: A Randomized-Controlled Trial Completed NCT00779493 Phase 4
18 Post-marketing Clinical Study of Ramosetron Hydrochloride (Irribow Tablets) - A Preliminary Study to Evaluate the Co-primary Endpoint in Patients (Male) With Diarrhea-predominant Irritable Bowel Syndrome Completed NCT00918411 Phase 4 Ramosetron;Placebo
19 Effect of Lactobacillus Reuteri DSM 17938 to Prevent Antibiotic-associated Diarrhea in Children: Prospective, Multi-center, Randomize, Parallel Group Placebo Controlled Clinical Trial Completed NCT02765217 Phase 4 Lactobacillus reuteri DSM 17938;Placebo;Amoxicillin-Clavulanic Acid
20 The Effect of a Probiotic and/or Prebiotic on the Duration of Diarrhea and Length of Hospital Stay in Children With Acute Diarrhea: Prospective, Double Blind, Randomized Controlled Trial Completed NCT01927094 Phase 4
21 A Community Based Intervention and Evaluation of the Impact of Social Marketing of a Diarrhea Management Pack(Comprising of Low Osmolality ORS, Zinc Tablets, Water Purification Tablets and Pictorial Chart) on Childhood Diarrhea. Completed NCT00942812 Phase 4
22 Bacillus Clausii in Preventing Antibiotic-Associated Diarrhea Among Filipino Infant and Children: A Multi-Center, Randomized, Open-Label Controlled (Treatment vs No Treatment) Clinical Trial of Efficacy and Safety Completed NCT00447161 Phase 4 Bacillus Clausii Multi ATB Resist;Placebo
23 Effect of Acarbose on Postprandial Lipoprotein Levels in Glucose Intolerant Patients Completed NCT02355509 Phase 4 Acarbose;Placebo
24 Open-Label Single-Arm Phase IV Study of Pemetrexed in Taiwanese Patients With Advanced Non-Small Cell Lung Cancer Who Have Had Prior Chemotherapy Completed NCT00380718 Phase 4 pemetrexed
25 Oral Administration of Tannins and Flavonoids in Children With Acute Diarrhea : A Pilot, Randomized, Control-case Study Completed NCT03356327 Phase 4 Actitan F;Standard Oral Rehydration
26 The Effect of Berberine on Intestinal Function and Inflammatory Mediators in Severe Patients With Covid-19 Completed NCT04479202 Phase 4 Berberine;Montmorrillonite
27 Comparison of Efficacy and Safety of Prandilin and NovoRapid Evaluated by Continuous Glucose Monitoring System in Newly Diagnosed Type 2 Diabetes Completed NCT03226210 Phase 4 aspart insulin or lipro insulin
28 Loperamide Plus Azithromycin More Effectively Treats Travelers' Diarrhea In Mexico Than Azithromycin Alone Completed NCT00359970 Phase 4 Azithromycin 500 mg;Azithromycin 1000 mg;Loperamide
29 Postmarketing Study of Probiotics Medication in Childhood Diarrhea Completed NCT00463190 Phase 4 Biothree
30 Rifaximin in Standard Three-Day Dosing With and Without the Antimotility Drug, Loperamide, in the Treatment of Travelers' Diarrhea Completed NCT00292344 Phase 4 Rifaximin and loperamide
31 Efficacy of Diosmectite (Smecta®) in the Treatment of Acute Diarrhoea in Adults. A Multicentre, Randomised, Double Blind, Placebo Controlled, Parallel Groups Study. Completed NCT00276328 Phase 4 Diosmectite (Smecta®)
32 Effect of Zinc Sulphate and Zinc Amino Acid Chelate in Prevention Acute Diarrhea and Acute Respiratory Infection, Medellín 2012 Completed NCT01791608 Phase 4
33 Introduction of New Hypo-Osmolar ORS (Recommended by WHO) for Routine Use in the Management of Diarrhoeal Diseases - A Phase IV Surveillance Study Completed NCT00490932 Phase 4 Hypo-osmolar ORS
34 An Evaluation of the Immune Response to Pentavalent Rotavirus Vaccine After a Supplemental Dose Given at 9 Months of Age With Local EPI Vaccines in Mali Completed NCT02286895 Phase 4
35 A Phase 4 Multicenter, Multinational, Prospective, Randomized, Placebo-Controlled, Double-Blinded Parallel Group Study to Assess Efficacy of Eluxadoline in the Treatment of Irritable Bowel Syndrome With Diarrhea (IBS-D) in Patients Who Report Inadequate Control of IBS-D Symptoms With Prior Loperamide Use (RELIEF) Completed NCT02959983 Phase 4 Eluxadoline;Placebo
36 Phase 4 Study of Probiotics on Intestinal Bacterial Population and Immune Modulation Completed NCT00763399 Phase 4
37 Efficacy of Racecadotril in the Management of Acute Watery Diarrhea in Children Completed NCT01577043 Phase 4 Racecadotril
38 Lactobacillus Reuteri DSM 17938 in the Prevention of Antibiotic-associated Diarrhea in Children: Protocol of a Randomized Controlled Trial Completed NCT02871908 Phase 4 Lactobacillus reuteri DSM 17938;Placebo
39 Lactobacillus Casei e Bifidobacterium Breve as Probiotics at the Treatment of Antibiotic Associated Diarrhea: a Randomized Double Blind Study Completed NCT00700557 Phase 4
40 Use of Probiotic Yogurt in the Treatment of Acute Diarrhea in Children: A Randomized Double-blind Trial Completed NCT01564290 Phase 4 Placebo probiotic
41 A Randomized, Parallel Group Comparison of Loperamide/Simeticone Caplet, Loperamide/Simeticone Chewable Tablet (IMODIUM® PLUS) and a Probiotic (Saccharomyces Boulardii) in the Treatment of Acute Diarrhea in Adults Completed NCT00807326 Phase 4 Loperamide/simeticone 2 mg/125 mg caplets;Loperamide/simeticone 2 mg/125 mg chewable tablets;Probiotic Saccharomyces boulardii 250 mg capsules
42 3030-401-002: An Open-Label Pilot Study of Eluxadoline in Participants With Irritable Bowel Syndrome With Diarrhea (IBS-D) Who Have Evidence of Bile Acid Malabsorption (BAM) Completed NCT03441581 Phase 4 Eluxadoline
43 A Placebo-Controlled, Double-Blind, Randomized Pilot Study to Evaluate the Appropriateness of Multiple Endpoints in Measuring the Onset of Clinical Efficacy of Loperamide-Simethicone Caplets in the Treatment of Acute Non-specific Diarrhea Completed NCT00685607 Phase 4 loperamide-simethicone;matching placebo
44 An Open-label, Pilot Study to Compare the Safety and Immunogenicity of an Alternate Dosing Schedule (2-5 Weeks, 2 Months, and 4 Months) for Pentavalent Rotavirus Vaccine (RotaTeq) to the Standard Recommended Schedule (2, 4, and 6 Months) Completed NCT01960725 Phase 4
45 Ability of Mayo Clinic HPLC Method to Measure Fecal Bile Acids to Demonstrate Response to Colesevelam in Patients With Diarrhea Predominant Irritable Bowel Syndrome Completed NCT02111603 Phase 4 Colesevelam
46 A Post -Marketing Drug Evaluation(Phase IV Clinical Trial) to Study the Safety and Efficacy of Heweizhixie Capsule in Patients With Diarrhea Completed NCT02607176 Phase 4 Heweizhixie capsule
47 Efficacy of Use of Zinc in the Treatment of Acute Diarrhea in Infants Under Six Months. Completed NCT01571856 Phase 4 Zinc Sulfate
48 Efficacy of Tegaserod in Relieving the Symptoms of Female Patients With Irritable Bowel Syndrome (IBS), Excluding Those With Predominant Diarrhea IBS Completed NCT00142987 Phase 4 Tegaserod
49 A Randomize, Placebo-controlled, Crossover Study to Measure the Effect of Alosetron on Mucosal Blood Flow in Female Healthy Volunteers and Diarrhea-predominant IBS Subjects Completed NCT00370032 Phase 4 alosetron
50 Diarrhea, Malaria, Anemia, and Helminthiasis Prevention Through Household-based Interventions in Rural Western Kenya: the Nyando Integrated Child Health and Education (NICHE) Project Completed NCT01088958 Phase 4

Search NIH Clinical Center for Diarrhea 6

Cochrane evidence based reviews: diarrhea

Genetic Tests for Diarrhea 6

Genetic tests related to Diarrhea 6:

# Genetic test Affiliating Genes
1 Diarrhea 6 29 GUCY2C

Anatomical Context for Diarrhea 6

MalaCards organs/tissues related to Diarrhea 6:

40
Colon, Liver, Endothelial, Prostate, Brain, Heart, Thyroid

Publications for Diarrhea 6

Articles related to Diarrhea 6:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Familial diarrhea syndrome caused by an activating GUCY2C mutation. 57 6
22436048 2012
2
Rotavirus A, C, and H in Brazilian pigs: potential for zoonotic transmission of RVA. 61
33090086 2021
3
[Observation of the therapeutic effect and prognosis analysis of Yiqijiebiao prescription for the treatment of children with influenza B]. 61
33463488 2020
4
Carboplatin and Paclitaxel for Advanced Endometrial Cancer: Final Overall Survival and Adverse Event Analysis of a Phase III Trial (NRG Oncology/GOG0209). 61
33078978 2020
5
Phase I Study of Alternate-Day Administration of S-1, Oral Leucovorin, and Bevacizumab for Refractory Metastatic Colorectal Cancer. 61
32490554 2020
6
Long-term safety and tolerability of bimagrumab (BYM338) in sporadic inclusion body myositis. 61
32690797 2020
7
[Evaluation of Patients Diagnosed with COVID-19 in Terms of Risk Factors]. 61
33107286 2020
8
A Phase II Trial of Cabozantinib in Hormone Receptor-Positive Breast Cancer with Bone Metastases. 61
32463152 2020
9
Phase II Study of Ensituximab, a Novel Chimeric Monoclonal Antibody, in Adults with Unresectable, Metastatic Colorectal Cancer. 61
32303539 2020
10
Use of ketogenic diet therapy in infants with epilepsy: A systematic review and meta-analysis. 61
32452537 2020
11
A Phase II Study of Cabozantinib and Androgen Ablation in Patients with Hormone-Naïve Metastatic Prostate Cancer. 61
31941830 2020
12
Features Discriminating COVID-19 From Community-Acquired Pneumonia in Pediatric Patients. 61
33251168 2020
13
A Clinical Review and Critical Evaluation of Imipenem-Relebactam: Evidence to Date. 61
33268997 2020
14
Oral Vancomycin May Be Associated With Earlier Symptom Resolution Than Metronidazole for Hospitalized Children With Nonsevere Clostridiodes difficile Infections. 61
31950069 2019
15
Lymphocytic esophagitis: An Australian (Queensland) case series of a newly recognized mimic of eosinophilic esophagitis. 61
31633045 2019
16
Association between UGT1A1 gene polymorphism and safety and efficacy of irinotecan monotherapy as the third-line treatment for advanced gastric cancer. 61
30603911 2019
17
Surufatinib in Advanced Well-Differentiated Neuroendocrine Tumors: A Multicenter, Single-Arm, Open-Label, Phase Ib/II Trial. 61
30833272 2019
18
[Efficacy and safety of vandetanib on advanced medullary thyroid carcinoma: single center result from a phase Ⅲ study]. 61
31262109 2019
19
A Phase 1b/2 Study of the Bruton Tyrosine Kinase Inhibitor Ibrutinib and the PD-L1 Inhibitor Durvalumab in Patients with Pretreated Solid Tumors. 61
31230047 2019
20
A comparative analysis of quality of life after postoperative intensity-modulated radiotherapy or three-dimensional conformal radiotherapy for cervical cancer. 61
30829265 2018
21
Multicenter Phase II Study of Sequential Brentuximab Vedotin and Doxorubicin, Vinblastine, and Dacarbazine Chemotherapy for Older Patients With Untreated Classical Hodgkin Lymphoma. 61
30179569 2018
22
Multicenter Phase II Study of Oxaliplatin, Irinotecan, and S-1 as First-line Treatment for Patients with Recurrent or Metastatic Biliary Tract Cancer. 61
29334603 2018
23
Population Pharmacokinetics and Safety of Solithromycin following Intravenous and Oral Administration in Infants, Children, and Adolescents. 61
29891609 2018
24
Enterotoxigenic Escherichia coli Adhesin-Toxoid Multiepitope Fusion Antigen CFA/I/II/IV-3xSTaN12S-mnLTG192G/L211A-Derived Antibodies Inhibit Adherence of Seven Adhesins, Neutralize Enterotoxicity of LT and STa Toxins, and Protect Piglets against Diarrhea. 61
29263112 2018
25
A Case of Mesenteric Cyst in a 4-Year-Old Child with Acute Abdominal Pain. 61
29302510 2017
26
Irinotecan monotherapy as third-line treatment for advanced gastric cancer refractory to fluoropyrimidines, platinum, and taxanes. 61
27858180 2017
27
A final report of a phase I study of veliparib (ABT-888) in combination with low-dose fractionated whole abdominal radiation therapy (LDFWAR) in patients with advanced solid malignancies and peritoneal carcinomatosis with a dose escalation in ovarian and fallopian tube cancers. 61
28109627 2017
28
Optimization of a Scoring System to Predict Microscopic Colitis in a Cohort of Patients With Chronic Diarrhea. 61
27404403 2017
29
Cobimetinib. 61
27701080 2017
30
A phase I study of oral UFT/leucovorin and irinotecan, plus radiation for locally recurrent rectal cancer. 61
31583301 2017
31
Uracil-Tegafur and Oral Leucovorin Combined With Bevacizumab in Elderly Patients (Aged ≥ 75 Years) With Metastatic Colorectal Cancer: A Multicenter, Phase II Trial (Joint Study of Bevacizumab, Oral Leucovorin, and Uracil-Tegafur in Elderly Patients [J-BLUE] Study). 61
26778644 2016
32
The Safety of Metoclopramide in Children: A Systematic Review and Meta-Analysis. 61
27003816 2016
33
Phase II trial of dasatinib for recurrent or metastatic c-KIT expressing adenoid cystic carcinoma and for nonadenoid cystic malignant salivary tumors. 61
26598548 2016
34
A Phase II Randomized Study of Lapatinib Combined With Capecitabine, Vinorelbine, or Gemcitabine in Patients With HER2-Positive Metastatic Breast Cancer With Progression After a Taxane (Latin American Cooperative Oncology Group 0801 Study). 61
26642810 2016
35
Phase 1a/1b and pharmacogenetic study of docetaxel, oxaliplatin and capecitabine in patients with advanced cancer of the stomach or the gastroesophageal junction. 61
26499900 2015
36
Phase II study of capecitabine and the oral mTOR inhibitor everolimus in patients with advanced pancreatic cancer. 61
25822310 2015
37
A phase I study of the histone deacetylase (HDAC) inhibitor entinostat, in combination with sorafenib in patients with advanced solid tumors. 61
25371323 2015
38
FOLFIRINOX for locally advanced pancreatic adenocarcinoma: results of an AGEO multicenter prospective observational cohort. 61
25037971 2015
39
[Association of UGT1A1 (*28, *60 and * 93) polymorphism with the adverse reactions of irinotecan chemotherapy in extensive stage small cell lung cancer]. 61
25877315 2015
40
DPPX potassium channel antibody: frequency, clinical accompaniments, and outcomes in 20 patients. 61
25320100 2014
41
Lapatinib plus capecitabine for HER2-positive advanced breast cancer: a multicentre study of Anatolian Society of Medical Oncology (ASMO). 61
24112786 2014
42
Non-polio enterovirus association with persistent diarrhea in children as revealed by a follow-up study of an Indian cohort during the first two years of life. 61
24954472 2014
43
Breath tests in the diagnosis of small intestinal bacterial overgrowth in patients with irritable bowel syndrome in comparison with quantitative upper gut aspirate culture. 61
24849768 2014
44
Idelalisib, an inhibitor of phosphatidylinositol 3-kinase p110δ, for relapsed/refractory chronic lymphocytic leukemia. 61
24615777 2014
45
Biweekly combination of trastuzumab, docetaxel and gemcitabine for HER2-positive metastatic breast cancer: results of a Phase II GOIM study. 61
24799054 2014
46
[Efficacy and safety of combination of sorafenib and transarterial chemoembolization in treating primary hepatocellular carcinoma]. 61
24581125 2014
47
A phase II study of bevacizumab, oxaliplatin, and capecitabine in patients with previously untreated metastatic colorectal cancer: a prospective, multicenter trial of the Korean Cancer Study Group. 61
23111359 2014
48
[Status of enterovirus infection in children with acute lower respiratory tract infection]. 61
23676941 2013
49
UGT1A1 gene polymorphisms and the toxicities of FOLFIRI in Chinese Han patients with gastrointestinal cancer. 61
22934695 2013
50
Bevacizumab with erlotinib as first-line therapy in Asian patients with advanced hepatocellular carcinoma: a multicenter phase II study. 61
23838576 2013

Variations for Diarrhea 6

ClinVar genetic disease variations for Diarrhea 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.2519G>T (p.Ser840Ile) SNV Pathogenic 30176 rs587776871 GRCh37: 12:14775021-14775021
GRCh38: 12:14622087-14622087
2 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.2324T>C (p.Leu775Pro) SNV Pathogenic 931137 GRCh37: 12:14778775-14778775
GRCh38: 12:14625841-14625841
3 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1282+1G>T SNV Pathogenic 1031483 GRCh37: 12:14822655-14822655
GRCh38: 12:14669721-14669721
4 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1532del (p.Lys511fs) Deletion Pathogenic 1031484 GRCh37: 12:14805887-14805887
GRCh38: 12:14652953-14652953
5 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys) SNV Likely pathogenic 870487 GRCh37: 12:14794087-14794087
GRCh38: 12:14641153-14641153
6 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1540A>G (p.Ile514Val) SNV Likely pathogenic 870488 GRCh37: 12:14804958-14804958
GRCh38: 12:14652024-14652024
7 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1544T>C (p.Leu515Pro) SNV Uncertain significance 977935 GRCh37: 12:14804954-14804954
GRCh38: 12:14652020-14652020
8 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.2279A>G (p.Tyr760Cys) SNV Uncertain significance 1031485 GRCh37: 12:14778820-14778820
GRCh38: 12:14625886-14625886

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 6:

72
# Symbol AA change Variation ID SNP ID
1 GUCY2C p.Ser840Ile VAR_067724 rs587776871

Expression for Diarrhea 6

Search GEO for disease gene expression data for Diarrhea 6.

Pathways for Diarrhea 6

GO Terms for Diarrhea 6

Sources for Diarrhea 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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