MECIL
MCID: MCN017
MIFTS: 52

Meconium Ileus (MECIL)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Meconium Ileus

MalaCards integrated aliases for Meconium Ileus:

Name: Meconium Ileus 56 73 29 13 6 39 71
Intestinal Obstruction in the Newborn Due to Guanylate Cyclase 2c Deficiency 58
Intestinal Obstruction Co-Occurrent and Due to Decreased Peristalsis 71
Meconium Ileus Due to Guanylate Cyclase 2c Deficiency 58
Ileus 71
Mecil 73

Characteristics:

Orphanet epidemiological data:

58
intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
normal sweat electrolytes
no features consistent with cystic fibrosis found in these patients


HPO:

31
meconium ileus:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM 56 614665
MeSH 43 D045823
ICD10 via Orphanet 33 P76.0
Orphanet 58 ORPHA314376
UMLS 71 C1258215 C2939175 C4019039

Summaries for Meconium Ileus

OMIM : 56 Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by Romi et al., 2012). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; 219700), and meconium ileus in the absence of CF is a rare phenomenon (summary by Tal et al., 1985). (614665)

MalaCards based summary : Meconium Ileus, also known as intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency, is related to cystic fibrosis and intestinal obstruction, and has symptoms including bowel spasm and gastric distention. An important gene associated with Meconium Ileus is GUCY2C (Guanylate Cyclase 2C), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and O-linked glycosylation. The drugs Peppermint and Atracurium have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and lung, and related phenotypes are microcolon and meconium ileus

UniProtKB/Swiss-Prot : 73 Meconium ileus: A condition characterized by intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis.

Related Diseases for Meconium Ileus

Diseases related to Meconium Ileus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis 31.3 SLC9A3 SLC26A9 MUC5AC GUCY2C CLCA1 CFTR
2 intestinal obstruction 31.2 SLC26A9 GUCY2C CFTR
3 ileus 30.5 SLC9A3 SLC6A14 SLC4A4 SLC26A9 GUCY2C CLCA1
4 duodenal atresia 30.4 GUCY2C CFTR C12orf60
5 cystic fibrosis, modifier of, 1 12.3
6 fibrosis of extraocular muscles, congenital, 1 10.8
7 peritonitis 10.7
8 volvulus of midgut 10.7
9 diarrhea 6 10.4 GUCY2C C12orf60
10 intestinal atresia 10.4
11 microcolon 10.3
12 constipation 10.3
13 chromosomal triplication 10.3
14 down syndrome 10.3
15 respiratory failure 10.3
16 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 10.2 SLC9A3 GUCY2C
17 enterocolitis 10.2
18 congenital chloride diarrhea 10.2
19 autosomal recessive disease 10.2
20 diarrhea 10.2
21 exocrine pancreatic insufficiency 10.2
22 cholestasis 10.2
23 polyhydramnios 10.2
24 lung disease 10.2
25 perinatal necrotizing enterocolitis 10.2
26 cytomegalovirus infection 10.2
27 intrahepatic biliary papillomatosis 10.2 MUC5AC MUC1
28 colloid carcinoma of the pancreas 10.2 MUC5AC MUC1
29 urinary bladder villous adenoma 10.2 MUC5AC MUC1
30 villous adenoma 10.2 MUC5AC MUC1
31 bile duct mucinous adenocarcinoma 10.2 MUC5AC MUC1
32 mucinous intrahepatic cholangiocarcinoma 10.2 MUC5AC MUC1
33 cap polyposis 10.2 MUC5AC MUC2
34 bile duct cystadenocarcinoma 10.2 MUC5AC MUC1
35 bile duct mucoepidermoid carcinoma 10.1 MUC5AC MUC1
36 chronic ethmoiditis 10.1 MUC5AC MUC1
37 biliary tract benign neoplasm 10.1 MUC5AC MUC1
38 filamentary keratitis 10.1 MUC5AC MUC1
39 tumor of exocrine pancreas 10.1 MUC5AC MUC1
40 diarrhea 8, secretory sodium, congenital 10.1 SLC9A3 CFTR
41 solid adenocarcinoma with mucin production 10.1 MUC5AC MUC1
42 tn polyagglutination syndrome 10.1 MUC2 MUC1
43 limbal stem cell deficiency 10.1 MUC5AC MUC1
44 colorectal cancer, hereditary nonpolyposis, type 8 10.1 MUC5AC MUC1
45 appendix disease 10.1 MUC5AC MUC1
46 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.1 SLC4A4 CFTR
47 complete androgen insensitivity syndrome 10.1 MUC5AC MUC1
48 gastric diffuse adenocarcinoma 10.1 MUC5AC MUC1
49 appendix cancer 10.1 MUC5AC MUC1
50 hirschsprung disease 1 10.0

Graphical network of the top 20 diseases related to Meconium Ileus:



Diseases related to Meconium Ileus

Symptoms & Phenotypes for Meconium Ileus

Human phenotypes related to Meconium Ileus:

31
# Description HPO Frequency HPO Source Accession
1 microcolon 31 HP:0004388
2 meconium ileus 31 HP:0004401

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
failure to pass meconium after birth
inspissated meconium in distal ileum
microcolon on contrast enema
prolonged diarrhea in infancy (in some patients)
meconium ileus on ultrasonography

Clinical features from OMIM:

614665

UMLS symptoms related to Meconium Ileus:


bowel spasm, gastric distention

MGI Mouse Phenotypes related to Meconium Ileus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 CFTR GUCY2C MUC2 MUC5AC SLC26A9 SLC4A4

Drugs & Therapeutics for Meconium Ileus

Drugs for Meconium Ileus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 291)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peppermint Approved Phase 4
2
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
3
Orphenadrine Approved Phase 4 83-98-7 4601
4
Histamine Approved, Investigational Phase 4 51-45-6 774
5
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
6
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
7
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
8
Succinylcholine Approved Phase 4 306-40-1 5314
9
Povidone-iodine Approved Phase 4 25655-41-8
10
Magnesium oxide Approved Phase 4 1309-48-4 14792
11
Loperamide Approved Phase 4 53179-11-6 3955
12
Bisacodyl Approved Phase 4 603-50-9
13
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521
14
Dimenhydrinate Approved Phase 4 523-87-5 441281
15
Simethicone Approved Phase 4 8050-81-5
16
Sorbitol Approved Phase 4 50-70-4 5780
17
tannic acid Approved Phase 4 1401-55-4
18
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
19
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
20
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
21
Clonidine Approved Phase 4 4205-90-7 2803
22
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
23
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
24
Labetalol Approved Phase 4 36894-69-6 3869
25 Hydrotalcite Approved, Experimental, Investigational Phase 4 12304-65-3
26
Sucralfate Approved Phase 4 54182-58-0
27
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
28
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
29
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
30
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
31
Remifentanil Approved Phase 4 132875-61-7 60815
32
Ondansetron Approved Phase 4 99614-02-5 4595
33
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
34
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
35
Cyclobenzaprine Approved Phase 4 303-53-7 2895
36
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
37
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
38
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
39
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
40
Tapentadol Approved Phase 4 175591-23-8 9838022
41
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
42
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
43
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
44
Alvimopan Approved, Investigational Phase 4 156053-89-3 5488548
45
Morphine Approved, Investigational Phase 4 57-27-2 5288826
46
Nicotine Approved Phase 4 54-11-5 942 89594
47
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
48
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
49
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
50
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826

Interventional clinical trials:

(show top 50) (show all 403)
# Name Status NCT ID Phase Drugs
1 Anti-inflammatory Effect of Pre-operative Stimulation of the Cholinergic Anti-Inflammatory Pathway: A Potential New Therapeutical Intervention for Postoperative Ileus Unknown status NCT02425774 Phase 4 Prucalopride;Placebo
2 Influence of Gum Chewing on Postoperative Bowel Activity After Complete Staging Surgery for Gynecological Malignancies Unknown status NCT01835119 Phase 4 gum
3 Effect of Mosapride on Postoperative Ileus in Patients Undergoing Colorectal Surgery Unknown status NCT02056405 Phase 4 Mosapride;Placebo
4 Effect of Intravenous Lidocaine on Postoperative Pain Management After Laparoscopy Cholecystectomy Unknown status NCT02997215 Phase 4 Lidocaine;Saline Placebo
5 Usefulness Of Flospan As A Premedication For Colonoscopy : A Randomized Double Blind Controlled Trial Unknown status NCT01842932 Phase 4 Phloroglucin;Cimetropium bromide;Placebo
6 Multimodal Narcotic Limited Perioperative Pain Control With Colorectal Surgery as Part of an Enhanced Recovery After Surgery Protocol: A Randomized Prospective Single- Center Trial. Unknown status NCT02958566 Phase 4 Acetaminophen;Gabapentin;Orphenadrine;Lidocaine;Marcaine;Ketamine;Methadone;Tramadol;Ketorolac;Morphine Sulfate;Fentanyl;Dilaudid;Hydrocodone-Acetaminophen Tab 5-325 MG;Morphine Sulfate;Fentanyl;Dilaudid;HYDROCODONE/ACETAMINOPHEN 5 Mg-325 Mg ORAL TABLET
7 Comparative Randomized Controlled Trial Study of General Balanced Anesthesia Based on Opioid and Opioid Sparing Balanced Anesthesia for Cholecystectomy Surgery Via Laparoscopy: Intraoperative and Postoperative Outcomes Unknown status NCT02953210 Phase 4 dexter ketamine;Lidocaine Hydrochloride;Fentanyl Hydrochloride;Clonidine Hydrochloride;Midazolam Hydrochloride;Isoflurane Volatile Liquid;Rocuronium Injectable Solution;Propofol 1 % Injectable Suspension;Dexamethasone-21-Sulfobenzoate, Sodium Salt;Ranitidine Hydrochloride;Ondansetron Hydrochloride;Ketorolac Injectable Solution;Bupivacaine Hydrochloride
8 NK Activity Modulation by Intravenous Lidocaine During Laparoscopic Colorectal Surgery Unknown status NCT01841294 Phase 4 Intravenous Lidocaine;Normal saline infusion
9 Randomised Study to Compare the Regain of Gastrointestinal Motility After General Anaesthesia Versus Spinal Anaesthesia in Caesarean Section.Kasr El Ainy,Egypt Experience Unknown status NCT02504749 Phase 4
10 Chronic Significant Pain and Functional Outcome After Laparoscopic Versus Open Groin Hernia Mesh Repair: Design of a Randomized Controlled Clinical Trial Unknown status NCT00625534 Phase 4
11 COLITIS: Clostridial Infection and Oral Lavage -Improving Treatment Before Illness Becomes Severe Unknown status NCT01630096 Phase 4 Nu-Lytely
12 Impact of Oral Application of Gastrografin on the Meconium Evacuation in Very Low Birth Weight Infants- a Phase 4 Study Completed NCT01515696 Phase 4 Gastrografin;Sterile water
13 The Impact of Visceral Osteopathic Treatment on the Meconium Evacuation in Very Low Birth Weight Infants Completed NCT02140710 Phase 4
14 Prospective Randomized Double Blind Study of the Effect of Gastrografin on Postoperative Ileus After Colorectal Surgery Completed NCT01440712 Phase 4 Gastrografin;physiological serum
15 A Phase 4, Multicenter, Double-Blind, Placebo-Controlled, Parallel Study of Alvimopan for the Management of Postoperative Ileus in Subjects Undergoing Radical Cystectomy. Completed NCT00708201 Phase 4 Alvimopan;Placebo
16 A New Approach of Neostigmine in Unavoidable Post Operative Ileus After Surgery Completed NCT00676377 Phase 4 Neostigmine;Saline
17 A Randomized Controlled Trial of the Effect of Simethicone on Postoperative Ileus in Patients Undergoing Colorectal Surgery: A Pilot Study Completed NCT02161367 Phase 4 Simethicone;Oral Suspending Vehicle
18 Effect of Postoperative Laxative on Bowel Function After Colonic Surgery Completed NCT00427492 Phase 4 Magnesia;Placebo
19 Preoperative Bowel Preparation Versus no Preparation Before Spinal Surgery: a Randomised Clinical Trial Completed NCT01879605 Phase 4 Docusate natrium and sorbitol;Bisacodyl
20 Randomized Clinical Trial of Bisacodyl Versus Placebo on Postoperative Bowel Motility in Elective Colorectal Surgery Completed NCT00509327 Phase 4 bisacodyl;glucosemonohydricum
21 Influence of Epidural Analgesia in Elective Laparoscopic Colorectal Resections Completed NCT00512395 Phase 4 epidural analgesia (Duracain/Fentanyl/Naropin)
22 Postoperative Analgesic Effects of Dexmedetomidine Added to Bupivacaine for Transversus Abdominis Plane Block for Lower Abdominal Surgery Completed NCT02064530 Phase 4 Bupivacaine;Dexmedetomidine;serum physiologic
23 Opioid Free Anesthesia: What About Patient Comfort? Completed NCT02882035 Phase 4
24 Laparoscopic Versus Open Sigmoid Colectomy for Diverticular Disease: A Prospective Randomized Single-Blind Trial Completed NCT00453830 Phase 4
25 Effect of Endovenous Lidocaine on Analgesia and Serum Cytokines Concentration: Randomized and Double-blind Trial Completed NCT02363699 Phase 4 Lidocaine;Saline solution
26 Laparoscope Subtotal Colectomy With Anti-peristaltic Ileo-sigmoid Anastomosis for the Treatment of Slow-transit Constipation:Therapeutic Evaluation Completed NCT02147574 Phase 4
27 Estimation of the Effect of Intravenous Lidocaine on BIS-guided Propofol Requirements During General Anesthesia Completed NCT01366300 Phase 4 Intravenous lidocaine infusion;Propofol 1% (intravenous infusion)
28 Surgical Pain Control With Ropivacaine by Atomized Delivery Completed NCT01480089 Phase 4 Intraperitoneal Ropivacaine (AIR);Atomized Intraperitoneal Saline (AIS)
29 A Randomized Clinical Study of the Efficacy of a Formulation of Four Probiotics for the Prevention of Post-operative Complications in Patients Undergoing Colorectal Surgery Completed NCT02313519 Phase 4
30 Randomized, Double-Blinded, Active-Controlled Study to Evaluate the Intraoperative Use of Labetalol vs. Esmolol for Maintaining Hemodynamic Stability During Laparoscopic Surgery: Effect on Recovery and Postoperative Pain Completed NCT01114971 Phase 4 Fentanyl;Labetalol;Esmolol
31 A Randomized Comparison of Concomitant Incontinence Procedures Performed With Abdominal Sacral Colpopexy: the Burch Versus Mid-urethral Sling Trial Completed NCT00934999 Phase 4
32 Impact of the Serratus Plane Block in Pain and the Use of Opioids in Breast Completed NCT02905149 Phase 4
33 A Comparison of Effectiveness of Oral Sucrolfate, Alginate and Hydrotalcide in Dispeptic Pain Treatment: Randomized Trial Completed NCT03635372 Phase 4 Alginate;Sucralfate;Hydrotalcite
34 Effect of Perioperative Intravenous Lidocaine on Opioid Consumption and Pain After Laparoscopic Totally Extraperitoneal Inguinal Hernioplasty Completed NCT02601651 Phase 4 Lidocaine;Normal saline
35 Use of Nitrous Oxide for Analgesia During Colonoscopy - A Randomised Trial Completed NCT00318825 Phase 4 Nitrous oxide
36 Cost- Effectiveness and Cost-utility of Laparoscopic Versus Open Repair of Ventral Hernia: Randomized Clinical Trial Completed NCT01778387 Phase 4
37 A Simple Oral Nutrition Protocol Reduces Length of Stay in Patients With Regular Radical Cystectomy Completed NCT01777126 Phase 4
38 Assessing the Safety of a Continuous Potassium Chloride Infusion in Critical Care: A Randomised Controlled Trial Completed NCT00718068 Phase 4 Sterile Potassium Chloride Concentrate;Sterile Potassium Chloride Concentrate
39 Adjuvant Analgesic Effects of Low Dose Tramadol/Acetaminophen Combination After Open Gynaecological Surgery Completed NCT00942565 Phase 4 tramadol/acetaminophen;acetaminophen
40 Non Operative Treatment for Acute Appendicitis: Study on Efficacy and Safety of Antibiotic Treatment (Amoxicillin and Clavulanic Acid) in Patients With Right Sided Lower Abdominal Pain Completed NCT01096927 Phase 4 Amoxicillin and Clavulanic Acid
41 PEG-Electrolyte Solution (FORTRANS®) With Mentholyptus Drops (Halls®) Versus Reduced Volume Ascorbic Acid Supplemented PEG-Electrolyte (MoviPrep®) in Colonoscopy Preparation: A Randomised Controlled Study Completed NCT01788709 Phase 4
42 The Use of Gastrografin to Help Alleviate Bowel Obstruction Related to Poor Bowel Motility in Gastroschisis Patients. Recruiting NCT03334578 Phase 4 Gastrografin
43 The Use of Oral Naloxone to Prevent Post Spinal Fusion Ileus Recruiting NCT03176316 Phase 4 Naloxone
44 Efficacy of the Liposomal Bupivacaine for Postoperative Pain Control in Urologic Procedures Recruiting NCT02805504 Phase 4 Exparel;Marcaine
45 Therapeutic Efficacy of Intravenous Lidocaine Infusion Compared With Epidural Analgesia for Postoperative Pain Control in Adult Patients Undergoing Major Abdominal Surgery: Non-Inferiority Clinical Trial Recruiting NCT04017013 Phase 4 Lidocaine Infusion
46 Multimodal Analgesia vs. Routine Care Pain Management for Lumbar Spine Fusion Surgery: A Prospective Randomized Study Recruiting NCT02202369 Phase 4
47 Impact of the Administration of Intravenous or Paravertebral Lidocaine in Continuous Perfusion During the Intraoperative Period of Lung Resection Surgery on the Appearance of Postoperative Complications Recruiting NCT03905837 Phase 4 Lidocaine;Remifentanil
48 The Impact of the Continuous Infusion of Intraperitoneal Analgesics on Postoperative Pain After Minimally Invasive Hysterectomy: a Randomized Controlled Trial Recruiting NCT04130464 Phase 4 Ropivacaine Infusion from ON-Q Pump;Ropivacaine + Ketorolac Infusion from ON-Q Pump;Normal Saline Infusion from ON-Q Pump
49 A Prospective, Randomized, Double-Blinded, Placebo-Controlled Clinical Trial Evaluating the Use of Perioperative Intravenous Lidocaine Infusion to Decrease Pain Scores and Opioid Consumption After Robotic-Assisted Prostatectomy and Robotic-Assisted Partial Nephrectomy Recruiting NCT03824808 Phase 4 Lidocaine Hydrochloride 0.8% in Dextrose 5% Solution;0.9% Sodium Chloride Injection
50 A Prospective, Double-blind, Randomized, and Controlled Clinical Trial to Compare the Effectiveness of Intravenous Bezlotoxumab (10 mg/kg) Versus Placebo in Decreasing Morbidity and Mortality in Patients With Fulminant Clostridioides Difficile Requiring Surgical Intervention. Recruiting NCT03756454 Phase 4

Search NIH Clinical Center for Meconium Ileus

Genetic Tests for Meconium Ileus

Genetic tests related to Meconium Ileus:

# Genetic test Affiliating Genes
1 Meconium Ileus 29 GUCY2C

Anatomical Context for Meconium Ileus

MalaCards organs/tissues related to Meconium Ileus:

40
Colon, Liver, Lung, Pancreas, Small Intestine, Placenta, Heart

Publications for Meconium Ileus

Articles related to Meconium Ileus:

(show top 50) (show all 759)
# Title Authors PMID Year
1
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. 56 6 61
22521417 2012
2
Familial meconium ileus with normal sweat electrolytes. 61 6 56
4006357 1985
3
[Abdominal imaging in cystic fibrosis]. 61
32495009 2020
4
Long term clinical outcome of cystic fibrosis pediatric patients presenting with meconium ileus. 61
32512617 2020
5
Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates. 61
32572600 2020
6
iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation. 61
32373648 2020
7
Cystic fibrosis-associated liver disease in children. 61
32418413 2020
8
Neonatal screening programme for CF: Results from the Irish Comparative Outcomes Study (ICOS). 61
32470170 2020
9
Meconium peritonitis resulting from different etiologies in siblings: a case report. 61
32138710 2020
10
Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis. 61
32166393 2020
11
Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years. 61
31682332 2020
12
Cystic fibrosis in Turkey: First data from the national registry. 61
31710166 2020
13
Variant classifications, databases and genotype-phenotype correlations. 61
32172930 2020
14
[Intrauterine Growth Restriction: Transsectoral, Interdisciplinary and Multiprofessional Care for Pregnant Women and Newborns in a Feto-neonatal Pathway: A Project of the Innovationsfonds]. 61
31509873 2020
15
Hydrogen Peroxide Enema-induced Proctitis in a Young Female: A Case Report. 61
32025395 2019
16
Is meconium ileus associated with worse outcomes in cystic fibrosis? 61
31668933 2019
17
Differences in clinical outcomes of paediatric cystic fibrosis patients with and without meconium ileus. 61
31672555 2019
18
Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: A multicentre Italian study. 61
31353045 2019
19
Distal intestinal obstruction syndrome: a diagnostic and therapeutic challenge in cystic fibrosis. 61
31654616 2019
20
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis. 61
31406621 2019
21
Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction. 61
31555574 2019
22
Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing. 61
31079856 2019
23
Night Blindness in Cystic Fibrosis: The Key Role of Vitamin A in the Digestive System. 61
31412557 2019
24
The outcome of Bishop-Koop procedure compared to divided stoma in neonates with meconium ileus, congenital intestinal atresia and necrotizing enterocolitis. 61
31277168 2019
25
Cystic Fibrosis Liver Disease: Outcomes and Risk Factors in a Large Cohort of French Patients. 61
30058245 2019
26
Management Strategy of Meconium Ileus-Outcome Analysis. 61
31105398 2019
27
Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification. 61
30507207 2019
28
Meconium Ileus in Two Irish Newborns: The Presenting Feature of Cystic Fibrosis 61
30932447 2019
29
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. 61
30807572 2019
30
Gastrointestinal, Pancreatic, and Hepatic Manifestations of Cystic Fibrosis in the Newborn. 61
31261070 2019
31
Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis. 61
30291871 2019
32
The feasibility of routine use of distal stoma refeeding method in newborns with enterostomy. 61
30585079 2018
33
Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation. 61
29983195 2018
34
Predictors for surgical intervention and surgical outcomes in neonates with cystic fibrosis. 61
29941358 2018
35
Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil. 61
30726326 2018
36
Consuming Genistein Improves Survival Rates in the Absence of Laxative in ΔF508-CF Female Mice. 61
30282922 2018
37
Cystic fibrosis in Tunisian children: a review of 32 children. 61
30602999 2018
38
Long-term intestinal obstruction sequelae and growth in children with cystic fibrosis operated for meconium ileus: expectancies and surprises. 61
29224788 2018
39
Fetal MRI in management of complicated meconium ileus: Prenatal and surgical imaging. 61
29877592 2018
40
SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion. 61
30004386 2018
41
Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis. 61
29396025 2018
42
Early diagnosis from newborn screening maximises survival in severe cystic fibrosis. 61
29692998 2018
43
Meconium Ileus. 61
29487495 2018
44
Meconium Ileus in a Neonate with Cystic Fibrosis. 61
29562160 2018
45
Meconium ileus in Cystic Fibrosis. 61
28986020 2017
46
High attainment of optimal nutritional and growth status observed among Greek pediatric cystic fibrosis patients: results from the GreeCF study. 61
29087958 2017
47
Guanylate cyclase 2C agonism corrects CFTR mutants. 61
28978796 2017
48
Comparison of T Tube Ileostomy and Bishop Koop Ileostomy for the Management of Uncomplicated Meconium Ileus. 61
28920016 2017
49
Effects of Diagnosis by Newborn Screening for Cystic Fibrosis on Weight and Length in the First Year of Life. 61
28437538 2017
50
Modulation of TMEM16A channel activity by the von Willebrand factor type A (VWA) domain of the calcium-activated chloride channel regulator 1 (CLCA1). 61
28420732 2017

Variations for Meconium Ileus

ClinVar genetic disease variations for Meconium Ileus:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GUCY2C NM_004963.4(GUCY2C):c.1160A>G (p.Asp387Gly)SNV Pathogenic 31604 rs587776905 12:14825817-14825817 12:14672883-14672883
2 GUCY2C NM_004963.4(GUCY2C):c.2270dup (p.Asn757fs)duplication Pathogenic 31605 rs730880325 12:14778828-14778829 12:14625894-14625895
3 GUCY2C NM_004963.4(GUCY2C):c.2782T>C (p.Cys928Arg)SNV Pathogenic 161159 rs587784573 12:14772238-14772238 12:14619304-14619304
4 GUCY2C NM_004963.4(GUCY2C):c.2008G>A (p.Ala670Thr)SNV Pathogenic 161158 rs587784572 12:14794076-14794076 12:14641142-14641142
5 GUCY2C NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys)SNV Likely pathogenic 870487 rs562942379 12:14794087-14794087 12:14641153-14641153
6 GUCY2C NM_004963.4(GUCY2C):c.1540A>G (p.Ile514Val)SNV Likely pathogenic 870488 rs551796026 12:14804958-14804958 12:14652024-14652024
7 GUCY2C NM_004963.4(GUCY2C):c.2155G>C (p.Glu719Gln)SNV Likely benign 802827 12:14792798-14792798 12:14639864-14639864
8 GUCY2C NM_004963.4(GUCY2C):c.949-5T>GSNV Likely benign 802828 12:14827699-14827699 12:14674765-14674765
9 GUCY2C NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met)SNV Benign/Likely benign 714778 12:14829843-14829843 12:14676909-14676909

UniProtKB/Swiss-Prot genetic disease variations for Meconium Ileus:

73
# Symbol AA change Variation ID SNP ID
1 GUCY2C p.Asp387Gly VAR_068174 rs587776905

Expression for Meconium Ileus

Search GEO for disease gene expression data for Meconium Ileus.

Pathways for Meconium Ileus

Pathways related to Meconium Ileus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 SLC9A3 SLC6A14 SLC4A4 SLC26A9 CLCA1 CFTR
2
Show member pathways
11.84 MUC5AC MUC2 MUC1
3
Show member pathways
11.66 MUC5AC MUC2 MUC1
4
Show member pathways
11.37 MUC5AC MUC2 MUC1
5 11.14 SLC4A4 CLCA1 CFTR
6 10.75 SLC9A3 SLC4A4 CFTR
7 10.73 SLC9A3 SLC4A4

GO Terms for Meconium Ileus

Cellular components related to Meconium Ileus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 SLC9A3 SLC6A14 SLC4A4 SLC26A9 MUC5AC MUC2
2 apical plasma membrane GO:0016324 9.56 SLC9A3 SLC26A9 MUC1 CFTR
3 vesicle GO:0031982 9.5 SLC9A3 SLC6A14 MUC1
4 Golgi lumen GO:0005796 9.33 MUC5AC MUC2 MUC1
5 mucus layer GO:0070701 8.62 MUC5AC MUC2

Biological processes related to Meconium Ileus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.72 SLC9A3 SLC4A4 SLC26A9 CLCA1 CFTR
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.58 MUC5AC MUC2 MUC1
3 chloride transmembrane transport GO:1902476 9.54 SLC26A9 CLCA1 CFTR
4 anion transport GO:0006820 9.46 SLC4A4 SLC26A9
5 regulation of intracellular pH GO:0051453 9.43 SLC9A3 SLC4A4
6 chloride transport GO:0006821 9.43 SLC26A9 CLCA1 CFTR
7 O-glycan processing GO:0016266 9.33 MUC5AC MUC2 MUC1
8 anion transmembrane transport GO:0098656 9.13 SLC9A3 SLC4A4 SLC26A9
9 bicarbonate transport GO:0015701 8.8 SLC4A4 SLC26A9 CFTR

Molecular functions related to Meconium Ileus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transporter activity GO:0015108 9.16 SLC26A9 CFTR
2 bicarbonate transmembrane transporter activity GO:0015106 8.96 SLC26A9 CFTR
3 chloride channel activity GO:0005254 8.8 SLC26A9 CLCA1 CFTR

Sources for Meconium Ileus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....