Meconium Ileus (MECIL)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Meconium Ileus

MalaCards integrated aliases for Meconium Ileus:

Name: Meconium Ileus 57 72 29 13 6 39 70
Intestinal Obstruction in the Newborn Due to Guanylate Cyclase 2c Deficiency 58
Intestinal Obstruction Co-Occurrent and Due to Decreased Peristalsis 70
Meconium Ileus Due to Guanylate Cyclase 2c Deficiency 58
Ileus 70
Mecil 72


Orphanet epidemiological data:

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;


57 (Updated 05-Apr-2021)
autosomal recessive

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


meconium ileus:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare gastroenterological diseases

External Ids:

OMIM® 57 614665
MeSH 44 D045823
ICD10 via Orphanet 33 P76.0
Orphanet 58 ORPHA314376
UMLS 70 C1258215 C2939175 C4019039

Summaries for Meconium Ileus

OMIM® : 57 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) (Updated 05-Apr-2021)

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 duodenal atresia, 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 Naloxone and Ketorolac have been mentioned in the context of this disorder. Affiliated tissues include colon, liver and pancreas, and related phenotypes are microcolon and meconium ileus

UniProtKB/Swiss-Prot : 72 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 122)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis 30.2 SLC9A3 SLC4A4 SLC26A9 MUC5AC MUC1 GUCY2C
2 duodenal atresia 30.2 GUCY2C CFTR C12orf60
3 diarrhea 30.0 SLC9A3 GUCY2C CFTR C12orf60
4 ileus 30.0 SLC9A3 SLC6A14 SLC26A9 PLBD1-AS1 GUCY2C CLCA1
5 cystic fibrosis, modifier of, 1 11.5
6 intestinal obstruction 10.7
7 peritonitis 10.6
8 fibrosis of extraocular muscles, congenital, 1 10.6
9 volvulus of midgut 10.6
10 intestinal atresia 10.3
11 diarrhea 6 10.3 GUCY2C C12orf60
12 chromosomal triplication 10.3
13 constipation 10.3
14 microcolon 10.3
15 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.2 SLC4A4 CFTR
16 cholestasis 10.2
17 down syndrome 10.2
18 spermatocele 10.1 SLC9A3 CFTR
19 polyhydramnios 10.1
20 lung disease 10.1
21 perinatal necrotizing enterocolitis 10.1
22 exocrine pancreatic insufficiency 10.1
23 respiratory failure 10.1
24 human cytomegalovirus infection 10.1
25 autosomal recessive disease 10.1
26 congenital chloride diarrhea 10.1
27 enterocolitis 10.1
28 colloid carcinoma of the pancreas 10.1 MUC5AC MUC1
29 right atrial isomerism 10.1 GUCY2C C12orf60
30 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 10.1 SLC9A3 GUCY2C
31 pancreatic signet ring cell adenocarcinoma 10.1 MUC5AC MUC1
32 intestinal impaction 10.1 SLC9A3 SLC4A4
33 intrahepatic biliary papillomatosis 10.1 MUC5AC MUC1
34 diarrhea 8, secretory sodium, congenital 10.1 SLC9A3 CFTR
35 chronic ethmoiditis 10.1 MUC5AC MUC1
36 urinary bladder villous adenoma 10.1 MUC5AC MUC1
37 villous adenoma 10.1 MUC5AC MUC1
38 bile duct mucinous adenocarcinoma 10.1 MUC5AC MUC1
39 mucinous intrahepatic cholangiocarcinoma 10.1 MUC5AC MUC1
40 bile duct cystadenocarcinoma 10.1 MUC5AC MUC1
41 cap polyposis 10.1 MUC5AC MUC2
42 bile duct mucoepidermoid carcinoma 10.1 MUC5AC MUC1
43 glandular cystitis 10.1 MUC5AC MUC1
44 filamentary keratitis 10.1 MUC5AC MUC1
45 biliary tract benign neoplasm 10.1 MUC5AC MUC1
46 malignant exocrine pancreas neoplasm 10.1 MUC5AC MUC1
47 solid adenocarcinoma with mucin production 10.0 MUC5AC MUC1
48 limbal stem cell deficiency 10.0 MUC5AC MUC1
49 acute cholangitis 10.0 MUC5AC MUC1
50 secretory diarrhea 10.0 SLC9A3 GUCY2C CFTR

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Meconium Ileus:

bowel spasm; gastric distention

MGI Mouse Phenotypes related to Meconium Ileus:

# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 CFTR GUCY2C MUC2 MUC5AC SLC26A9 SLC4A4
2 immune system MP:0005387 9.32 ADIPOR2 CFTR CLCA1 GUCY2C MUC2 MUC5AC

Drugs & Therapeutics for Meconium Ileus

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

(show top 50) (show all 168)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Acetaminophen Approved Phase 4 103-90-2 1983
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Peppermint Approved Phase 4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
Methadone Approved Phase 4 76-99-3 4095
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Orphenadrine Approved Phase 4 83-98-7 4601
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
Bisacodyl Approved Phase 4 603-50-9
Dimenhydrinate Approved Phase 4 523-87-5 441281
Simethicone Approved Phase 4 8050-81-5
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
Alvimopan Approved, Investigational Phase 4 156053-89-3 5488548
Nicotine Approved Phase 4 54-11-5 942 89594
26 Psychotropic Drugs Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Antirheumatic Agents Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 Anesthetics, Intravenous Phase 4
31 Analgesics Phase 4
32 Anesthetics, General Phase 4
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4
34 Anti-Anxiety Agents Phase 4
35 Cholinergic Antagonists Phase 4
36 Analgesics, Opioid Phase 4
37 Cytochrome P-450 Enzyme Inhibitors Phase 4
38 Antipyretics Phase 4
39 Anesthetics, Local Phase 4
40 Sodium Channel Blockers Phase 4
41 Anti-Arrhythmia Agents Phase 4
42 Excitatory Amino Acid Antagonists Phase 4
43 Anesthetics, Dissociative Phase 4
44 Diuretics, Potassium Sparing Phase 4
45 Acetaminophen, hydrocodone drug combination Phase 4
46 Respiratory System Agents Phase 4
47 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
48 Parasympatholytics Phase 4
49 Muscarinic Antagonists Phase 4
50 Anticonvulsants Phase 4

Interventional clinical trials:

(show top 50) (show all 156)
# Name Status NCT ID Phase Drugs
1 The Use of Oral Naloxone to Prevent Post Spinal Fusion Ileus Unknown status NCT03176316 Phase 4 Naloxone
2 Effect of Mosapride on Postoperative Ileus in Patients Undergoing Colorectal Surgery Unknown status NCT02056405 Phase 4 Mosapride;Placebo
3 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
4 Influence of Gum Chewing on Postoperative Bowel Activity After Complete Staging Surgery for Gynecological Malignancies Unknown status NCT01835119 Phase 4 gum
5 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
6 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
7 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
8 The Impact of Visceral Osteopathic Treatment on the Meconium Evacuation in Very Low Birth Weight Infants Completed NCT02140710 Phase 4
9 Prospective Randomized Double Blind Study of the Effect of Gastrografin on Postoperative Ileus After Colorectal Surgery Completed NCT01440712 Phase 4 Gastrografin;physiological serum
10 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
11 A New Approach of Neostigmine in Unavoidable Post Operative Ileus After Surgery Completed NCT00676377 Phase 4 Neostigmine;Saline
12 Randomized Clinical Trial of Bisacodyl Versus Placebo on Postoperative Bowel Motility in Elective Colorectal Surgery Completed NCT00509327 Phase 4 bisacodyl;glucosemonohydricum
13 A Prospective Randomized Control Trial of The Effectiveness of Alvimopan as a Rescue Treatment of Postoperative Ileus Following Colorectal Surgery Recruiting NCT04405037 Phase 4 Alvimopan
14 The Effects of Preoperative High-dose Dexamethasone on Inflammatory Response and Recovery After Emergency Laparotomy, a Randomized, Double-blind, Placebo-controlled Clinical Trial - AHA STEROID TRIAL Recruiting NCT04791566 Phase 4 Dexamethasone 1 mg/kg;Physiologic saline
15 A Double Blind, Randomized, Parallel Design Study to Evaluate the Effectiveness of Post-operative Dose of Alvimopan(Entereg) in Preventing Post-operative Ileus in Poly-traumatized Patients Terminated NCT03068975 Phase 4 Alvimopan;Placebo
16 Does Nicotine Gum Enhance Bowel Recovery After Colorectal Surgery? Terminated NCT01662115 Phase 4 Nicotine gum
17 A Feasibility Randomized Trial of Intestinal Lavage for the Treatment of Severe C. Difficile Infections Unknown status NCT02466698 Phase 2, Phase 3 Vancomycin;PEG;Metronidazole
18 A Prospective Randomized Control Trial of The Effectiveness of Entereg as a Rescue Treatment of Postoperative Ileus Following Colorectal Surgery Unknown status NCT02742181 Phase 3 Alvimopan
19 A Phase 3, Multicenter, Double-Blind, Placebo-Controlled, Parallel Study of Dexamethasone-Allantoin-Metronidazole (DAM) Solution in the Treatment of Post-Operative Ileus (POI) in Subjects Undergoing Abdominal Operation Unknown status NCT01863407 Phase 3 DAM;Normal Saline
20 Anti-inflammatory Effect of Peroperative Stimulation of the Vagus Nerve: A Potential New Therapeutical Intervention for Shortening Postoperative Ileus Unknown status NCT02524626 Phase 3
21 A Randomized Double-blind Placebo Controlled Trial of Prucalopride to Reduce the Duration of Postoperative Ileus in Patients Undergoing Elective Colorectal Surgery Unknown status NCT02947269 Phase 3 Prucalopride;Placebo Oral Capsule
22 A Randomized Clinical Trial of Electroacupuncture Versus Fast-track Perioperative Program for Reducing Duration of Postoperative Ileus and Hospital Stay After Laparoscopic Colorectal Surgery Unknown status NCT02059603 Phase 3
23 Electroacupuncture for Postoperative Ileus After Laparoscopic Colorectal Surgery: a Randomised Sham-controlled Pilot Study Completed NCT00464425 Phase 3
24 A Multicenter Phase III, Double-Blind, Placebo-Controlled, Parallel Study of ADL-8-2698 in Opioid-Induced Postoperative Bowel Dysfunction/Postoperative Ileus Completed NCT00388479 Phase 3 Alvimopan
25 A Multicenter Phase III, Double-Blind, Placebo-Controlled, Parallel Study of ADL-8-2698 in Opioid-Induced Postoperative Bowel Dysfunction/Postoperative Ileus Completed NCT00388258 Phase 3 Alvimopan
26 Does Coffee Consumption Prevent or Shorten Postoperative Ileus After Colon Resection? A Prospective Randomized Clinical Trial Completed NCT01130675 Phase 3
27 A Phase 3, Double-Blind, Randomized, Parallel-Group, Placebo-Controlled Study of Intravenous (IV) Methylnaltrexone Bromide (MNTX) in the Treatment of Post-Operative Ileus (POI) Completed NCT00401375 Phase 3 Methylnaltrexone;Placebo
28 Efficacy of Simo Decoction and Acupuncture or Chewing Gum Alone on Postoperative Ileus in Colorectal Cancer Resection: a Randomized Clinical Trial Completed NCT02813278 Phase 3
29 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study of Intravenous Methylnaltrexone (MOA-728) for the Treatment of Post Operative Ileus. Completed NCT00387309 Phase 3 Methylnaltrexone (MOA-728)
30 A Multicenter Phase III, Double-Blind, Placebo-Controlled, Parallel Study of ADL-8-2698 in Opioid-Induced Postoperative Bowel Dysfunction/Postoperative Ileus Completed NCT00388401 Phase 3 Alvimopan
31 A Phase IIIb, Multicenter, Double-Blind, Placebo-Controlled, Parallel Study of Alvimopan for the Management of Opioid-Induced Postoperative Bowel Dysfunction/Postoperative Ileus Completed NCT00205842 Phase 3 alvimopan
32 Randomised Double-blind Placebo-controlled Trial of Gastrografin in the Therapeutic Management of Prolonged Postoperative Ileus Following Elective Surgery. Completed NCT01648972 Phase 2, Phase 3 Gastrografin;Placebo
33 Randomized Control Trial on Seprafilm and Guardix in Preventing Ileus Completed NCT02168426 Phase 3
34 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Intravenous Methylnaltrexone (MOA-728) for the Treatment of Post Operative Ileus After Ventral Hernia Repair Completed NCT00528970 Phase 3 MOA-728;Placebo
35 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section: Randomized Controlled Trial Completed NCT01131416 Phase 2, Phase 3
36 Effects of Intravenous Local Anesthetic on Bowel Function After Colectomy Completed NCT00600158 Phase 3 bupivacaine with hydromorphone;lidocaine
37 Effectiveness of Mouth Dissolving Mosapride Tablets on Enhancing Gut Recovery After Cesarean Section: Randomized Double-blind, Placebo-controlled Clinical Trial Completed NCT03477266 Phase 3 Mosapride;Placebo Oral Tablet
38 A Multicentre, Randomised, Double-blind, Placebo-Controlled Study to Evaluate the Safety of TZP-101 (IV Ulimorelin) Administered Post-Operatively in Patients Who Have Undergone Partial Bowel Resection Completed NCT01710982 Phase 3 TZP-101
39 Efficacy of Prucalopride in Critically Ill Patients With Paralytic Ileus; a Pilot Randomized Double-blind Controlled Trial Recruiting NCT04190173 Phase 3 Prucalopride;Placebo
40 Time to Transit Recovery After Treatment With Naloxegol in Cardiac Surgery Intensive Care Trial Recruiting NCT04433390 Phase 3 Naloxegol;inert tablet
41 Effects of Chewing Gum Against Postoperative Ileus After Pancreaticoduodenectomy - a Randomized Controlled Trial Terminated NCT02319512 Phase 3
42 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer: a Randomized Controlled Trial Withdrawn NCT01389986 Phase 2, Phase 3
43 Effect of Daikenchuto (TJ-100) on Intestinal Dysmotility and For the Prevention of Postoperative Paralytic Ileus in Patients Undergoing Pancreaticoduodenectomy: A Multicenter, Randomized, Placebo-Controlled Phase II Trial Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
44 A Phase II Randomized Controlled Trial of Acupuncture for Reduction of Post-Colectomy Ileus Completed NCT00402961 Phase 2
45 A Randomized, Controlled, Open-Label Tolerability And Efficacy Study Of TU-100 For The Treatment Of Postoperative Ileus In Patients Undergoing Laparotomy For Large Bowel Resection Completed NCT00266461 Phase 2 Daikenchuto Extract Granules (TU-100)
46 A Phase II, Double-Blind, Placebo-Controlled, Multiple-Dose Study to Evaluate the Safety and Efficacy of Ipamorelin Compared to Placebo for the Management of Post-Operative Ileus in Patients Completed NCT00672074 Phase 2 Ipamorelin;placebo
47 A Phase II Double-Blind Randomized Parallel Group Study of Intravenous (IV) Methylnaltrexone (MNTX) in the Prevention of Post-Operative Ileus Completed NCT01367548 Phase 2 IV Methylnaltrexone (MNTX);Placebo
48 The Effect of Gum Chewing on Postoperative Ileus After Gynecologic Surgery. Completed NCT01579175 Phase 1, Phase 2
49 A Randomized, Controlled, Double-blind Efficacy and Tolerability Study Of Prucalopride For The Treatment Of Postoperative Ileus In Patients Undergoing Gastrointestinal Surgery Completed NCT02004652 Phase 2 Prucalopride;Placebo
50 A Randomized, Double-Blinded, Placebo-Controlled Trial of TU-100 in Patients Undergoing Laparoscopic Colectomy Completed NCT02232893 Phase 2 Daikenchuto (TU-100);Placebo

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:

Colon, Liver, Pancreas, Small Intestine, Myeloid, Appendix

Publications for Meconium Ileus

Articles related to Meconium Ileus:

(show top 50) (show all 774)
# Title Authors PMID Year
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. 57 6 61
22521417 2012
Familial meconium ileus with normal sweat electrolytes. 61 57 6
4006357 1985
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. 61 6
25370039 2015
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
Phenotypic Presentations of Cystic Fibrosis in Children of African Descent. 61
33807078 2021
Diagnostic decision-making tool for imaging term neonatal bowel obstruction. 61
33097229 2021
Early management of meconium ileus in infants with cystic fibrosis: A prospective population cohort study. 61
33789802 2021
Commentary on early management of meconium ileus in infants with cystic fibrosis: A prospective population cohort study. 61
33745742 2021
Growth, Body Composition, and Lung Function in Prepubertal Children with Cystic Fibrosis Diagnosed by Newborn Screening. 61
33301217 2020
Long-term clinical outcome of cystic fibrosis paediatric patients presenting with meconium ileus. 61
32512617 2020
Bedside laparotomy in newborns -A single institute experience. 61
33334555 2020
Distal intestinal obstruction syndrome: a diagnostic and therapeutic challenge in cystic fibrosis. 61
31654616 2020
A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis. 61
32716133 2020
Cystic fibrosis-associated liver disease in children. 61
32418413 2020
Sulfhemoglobinemia associated with meconium ileus in cystic fibrosis. 61
32706503 2020
Delayed Presentation of Meconium Ileus in an Infant With Cystic Fibrosis. 61
32978295 2020
LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS. 61
33090994 2020
Neonatal screening programme for CF: Results from the Irish Comparative Outcomes Study (ICOS). 61
32470170 2020
Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis. 61
32166393 2020
Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates. 61
32572600 2020
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients. 61
32992607 2020
[Abdominal imaging in cystic fibrosis]. 61
32495009 2020
The feasibility of routine use of distal stoma refeeding method in newborns with enterostomy. 61
30585079 2020
iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation. 61
32373648 2020
Meconium peritonitis resulting from different etiologies in siblings: a case report. 61
32138710 2020
Cystic fibrosis in Turkey: First data from the national registry. 61
31710166 2020
Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years. 61
31682332 2020
Variant classifications, databases and genotype-phenotype correlations. 61
32172930 2020
[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
A comparative study between Santulli ileostomy and loop ileostomy in neonates with meconium ileus. 61
33206844 2020
33331433 2020
Hydrogen Peroxide Enema-induced Proctitis in a Young Female: A Case Report. 61
32025395 2019
Is meconium ileus associated with worse outcomes in cystic fibrosis? 61
31668933 2019
Differences in clinical outcomes of paediatric cystic fibrosis patients with and without meconium ileus. 61
31672555 2019
Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: A multicentre Italian study. 61
31353045 2019
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis. 61
31406621 2019
Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction. 61
31555574 2019
Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing. 61
31079856 2019
Night Blindness in Cystic Fibrosis: The Key Role of Vitamin A in the Digestive System. 61
31412557 2019
The outcome of Bishop-Koop procedure compared to divided stoma in neonates with meconium ileus, congenital intestinal atresia and necrotizing enterocolitis. 61
31277168 2019
Management Strategy of Meconium Ileus-Outcome Analysis. 61
31105398 2019
Cystic Fibrosis Liver Disease: Outcomes and Risk Factors in a Large Cohort of French Patients. 61
30058245 2019
Meconium Ileus in Two Irish Newborns: The Presenting Feature of Cystic Fibrosis 61
30932447 2019
Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification. 61
30507207 2019
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci. 61
30807572 2019
Gastrointestinal, Pancreatic, and Hepatic Manifestations of Cystic Fibrosis in the Newborn. 61
31261070 2019
Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis. 61
30291871 2019
Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil. 61
30726326 2018
Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation. 61
29983195 2018
Predictors for surgical intervention and surgical outcomes in neonates with cystic fibrosis. 61
29941358 2018

Variations for Meconium Ileus

ClinVar genetic disease variations for Meconium Ileus:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1160A>G (p.Asp387Gly) SNV Pathogenic 31604 rs587776905 GRCh37: 12:14825817-14825817
GRCh38: 12:14672883-14672883
2 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.2008G>A (p.Ala670Thr) SNV Pathogenic 161158 rs587784572 GRCh37: 12:14794076-14794076
GRCh38: 12:14641142-14641142
3 PLBD1-AS1 , C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.2782T>C (p.Cys928Arg) SNV Pathogenic 161159 rs587784573 GRCh37: 12:14772238-14772238
GRCh38: 12:14619304-14619304
4 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.2270dup (p.Asn757fs) Duplication Pathogenic 31605 rs730880325 GRCh37: 12:14778828-14778829
GRCh38: 12:14625894-14625895
5 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1047del (p.Lys350fs) Deletion Likely pathogenic 977074 GRCh37: 12:14827596-14827596
GRCh38: 12:14674662-14674662
6 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys) SNV Likely pathogenic 870487 GRCh37: 12:14794087-14794087
GRCh38: 12:14641153-14641153
7 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.1540A>G (p.Ile514Val) SNV Likely pathogenic 870488 GRCh37: 12:14804958-14804958
GRCh38: 12:14652024-14652024
8 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.2155G>C (p.Glu719Gln) SNV Likely benign 802827 rs895214647 GRCh37: 12:14792798-14792798
GRCh38: 12:14639864-14639864
9 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.949-5T>G SNV Likely benign 802828 rs1403237949 GRCh37: 12:14827699-14827699
GRCh38: 12:14674765-14674765
10 C12orf60 , GUCY2C NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met) SNV Benign 714778 rs148946391 GRCh37: 12:14829843-14829843
GRCh38: 12:14676909-14676909

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

# 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
Show member pathways
Show member pathways
11.81 MUC5AC MUC2 MUC1
Show member pathways
Show member pathways
11.17 MUC5AC MUC2 MUC1
5 10.75 SLC9A3 SLC4A4 CFTR
6 10.68 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 integral component of plasma membrane GO:0005887 9.8 SLC6A14 SLC4A4 SLC26A9 MUC1 CLCA1 CFTR
2 plasma membrane GO:0005886 9.7 SLC9A3 SLC6A14 SLC4A4 SLC26A9 MUC5AC MUC2
3 cell surface GO:0009986 9.67 SLC9A3 SLC4A4 SLC26A9 CFTR
4 apical plasma membrane GO:0016324 9.56 SLC9A3 SLC26A9 MUC1 CFTR
5 Golgi lumen GO:0005796 9.33 MUC5AC MUC2 MUC1
6 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 9.77 SLC9A3 SLC4A4 SLC26A9 CLCA1 CFTR
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.61 MUC5AC MUC2 MUC1
3 sodium ion transmembrane transport GO:0035725 9.58 SLC9A3 SLC6A14 SLC4A4
4 chloride transmembrane transport GO:1902476 9.5 SLC26A9 CLCA1 CFTR
5 regulation of intracellular pH GO:0051453 9.48 SLC9A3 SLC4A4
6 anion transport GO:0006820 9.46 SLC4A4 SLC26A9
7 chloride transport GO:0006821 9.43 SLC26A9 CLCA1 CFTR
8 anion transmembrane transport GO:0098656 9.33 SLC9A3 SLC4A4 SLC26A9
9 O-glycan processing GO:0016266 9.13 MUC5AC MUC2 MUC1
10 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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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