MECIL
MCID: MCN017
MIFTS: 54

Meconium Ileus (MECIL)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Meconium Ileus

MalaCards integrated aliases for Meconium Ileus:

Name: Meconium Ileus 57 75 29 13 6 40 73
Ileus 44 73
Intestinal Obstruction in the Newborn Due to Guanylate Cyclase 2c Deficiency 59
Intestinal Obstruction Co-Occurrent and Due to Decreased Peristalsis 73
Meconium Ileus Due to Guanylate Cyclase 2c Deficiency 59
Mecil 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
meconium ileus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614665
Orphanet 59 ORPHA314376
ICD10 via Orphanet 34 P76.0
MeSH 44 D045823
ICD10 33 K56.7 P76.8

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)

MalaCards based summary : Meconium Ileus, also known as ileus, is related to cystic fibrosis and diarrhea, 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 Cola and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include colon, pancreas and liver, and related phenotypes are microcolon and meconium ileus

UniProtKB/Swiss-Prot : 75 Meconium ileus: A condition characterized by a 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 238)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis 32.0 CFM1 CFTR CLCA1 GUCY2C MUC2 MUC5AC
2 diarrhea 30.4 CFTR GUCY2C SLC9A3
3 duodenal atresia 30.3 CFTR GUCY2C
4 mucinous adenocarcinoma 29.4 MUC1 MUC2
5 paralytic ileus 12.4
6 chronic duodenal ileus 12.2
7 cystic fibrosis, modifier of, 1 12.1
8 ogilvie syndrome 11.0
9 intussusception 10.6
10 intestinal obstruction 10.4
11 peritonitis 10.3
12 diarrhea 6 10.3 C12orf60 GUCY2C
13 colorectal cancer 10.2
14 crohn's disease 10.1
15 pancreatitis 10.1
16 diarrhea 1, secretory chloride, congenital 10.1
17 congenital chloride diarrhea 10.1
18 intestinal atresia 10.1
19 constipation 10.1
20 secretory diarrhea 10.1 CFTR GUCY2C SLC9A3
21 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.1 CFTR SLC4A4
22 cystadenoma 10.1 MUC1 MUC2
23 tubular adenocarcinoma 10.1 MUC1 MUC2
24 breast mucoepidermoid carcinoma 10.1 MUC1 MUC5AC
25 solid adenocarcinoma with mucin production 10.1 MUC1 MUC5AC
26 tumor of exocrine pancreas 10.1 MUC1 MUC2
27 pancreatic intraductal papillary-mucinous neoplasm 10.1 MUC1 MUC2
28 mucinous ovarian cystadenoma 10.1 MUC1 MUC5AC
29 filamentary keratitis 10.1 MUC1 MUC5AC
30 mucinous intrahepatic cholangiocarcinoma 10.1 MUC2 MUC5AC
31 ampulla of vater adenocarcinoma 10.1 MUC1 MUC2
32 mucinous tubular and spindle renal cell carcinoma 10.1 MUC1 MUC2
33 cap polyposis 10.1 MUC2 MUC5AC
34 duodenal disease 10.0 MUC1 MUC2
35 limbal stem cell deficiency 10.0 MUC1 MUC5AC
36 clear cell adenoma 10.0 MUC2 MUC5AC
37 mucinous cystadenocarcinoma 10.0 MUC1 MUC2
38 acute pancreatitis 10.0
39 complete androgen insensitivity syndrome 10.0 MUC1 MUC5AC
40 intestinal impaction 10.0
41 appendix cancer 10.0 MUC1 MUC2
42 polyposis, skin pigmentation, alopecia, and fingernail changes 10.0 MUC2 MUC5AC
43 superior mesenteric artery syndrome 10.0 MUC2 MUC5AC
44 gastric cardia carcinoma 10.0 MUC1 MUC5AC
45 biliary tract neoplasm 10.0 MUC1 MUC2
46 ovarian mucinous neoplasm 10.0 MUC2 MUC5AC
47 duodenum cancer 10.0 MUC1 MUC2
48 pulmonary disease, chronic obstructive 10.0 CFTR CLCA1 MUC5AC
49 signet ring cell adenocarcinoma 10.0 MUC1 MUC2
50 schizophrenia 10.0

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



Diseases related to Meconium Ileus

Symptoms & Phenotypes for Meconium Ileus

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Meconium Ileus:

32
# Description HPO Frequency HPO Source Accession
1 microcolon 32 HP:0004388
2 meconium ileus 32 HP:0004401

UMLS symptoms related to Meconium Ileus:


bowel spasm, gastric distention

MGI Mouse Phenotypes related to Meconium Ileus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 CFTR GUCY2C MUC2 MUC5AC SLC26A9 SLC4A4
2 homeostasis/metabolism MP:0005376 9.28 ADIPOR2 CFTR CLCA1 GUCY2C MUC2 MUC5AC

Drugs & Therapeutics for Meconium Ileus

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Phase 4
2 Pharmaceutical Solutions Phase 2, Phase 3
3
Kanamycin Approved, Investigational, Vet_approved Not Applicable 8063-07-8, 59-01-8 6032
4
Erythromycin Approved, Investigational, Vet_approved Not Applicable 114-07-8 12560
5
Magnesium oxide Approved Not Applicable 1309-48-4 14792
6
Metronidazole Approved Not Applicable 443-48-1 4173
7
Cefazolin Approved Not Applicable 25953-19-9 656510 33255
8
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
9 Antibiotics, Antitubercular Not Applicable
10 Anti-Ulcer Agents Not Applicable
11 Antiprotozoal Agents Not Applicable
12 Anti-Infective Agents Not Applicable
13 Antacids Not Applicable
14 Gastrointestinal Agents Not Applicable
15 Erythromycin Ethylsuccinate Not Applicable
16 Laxatives Not Applicable
17 Antitubercular Agents Not Applicable
18 Citrate Not Applicable
19 Senna Not Applicable
20 Erythromycin stearate Not Applicable
21 Anticoagulants Not Applicable
22 Calcium, Dietary Not Applicable
23 Central Nervous System Depressants Not Applicable
24 Sennoside A&B Not Applicable
25 Antiparasitic Agents Not Applicable
26 Senna Extract Not Applicable
27 Anti-Bacterial Agents Not Applicable
28 Chelating Agents Not Applicable
29 Cathartics Not Applicable
30 Picosulfate sodium Not Applicable
31 Erythromycin Estolate Not Applicable
32 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Oral Application of Gastrografin on the Meconium Evacuation in Very Low Birth Weight Infants Completed NCT01515696 Phase 4 Gastrografin;Sterile water
2 Impact of Visceral Osteopathic Treatment on Meconium Evacuation in Preterm Infants Completed NCT02140710 Phase 4
3 Gastrografin for Treating Small Bowel Obstruction in Children Not yet recruiting NCT03573921 Phase 2, Phase 3 Gastrografin
4 Intestinal Fatty Acid Binding Protein in Very Low Birth Weight Infants With Meconium Obstruction Completed NCT02864446
5 Benefits and Risks of Newborn Screening for Cystic Fibrosis Completed NCT00014950 Not Applicable
6 Risk Factors of Meconium Obstruction and Respiratory Distress Syndrome in Preterm Infants Recruiting NCT03513640
7 Bowel Preparation in Elective Pediatric Intestinal Surgery Not yet recruiting NCT03593252 Not Applicable Senna;Sodium Picosulfate, Magnesium Oxide and Citric Acid;Erythromycin;Kanamycin;Cefazolin;Metronidazole

Search NIH Clinical Center for Meconium Ileus

Cochrane evidence based reviews: 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:

41
Colon, Pancreas, Liver, Lung, Appendix, Kidney, Myeloid

Publications for Meconium Ileus

Articles related to Meconium Ileus:

(show top 50) (show all 644)
# Title Authors Year
1
Meconium Ileus. ( 29487495 )
2018
2
Fetal MRI in management of complicated meconium ileus: Prenatal and surgical imaging. ( 29877592 )
2018
3
Meconium Ileus in a Neonate with Cystic Fibrosis. ( 29562160 )
2018
4
Ileus and small bowel obstruction after radical cystectomy for bladder cancer: Analysis from the Nationwide Inpatient Sample. ( 30217287 )
2018
5
Constipation, ileus and medication use during clozapine treatment in patients with schizophrenia in Iceland. ( 30348045 )
2018
6
Relapsing paralytic ileus in multiple sclerosis requiring surgery: a video case report. ( 30415400 )
2018
7
Acute Abdomen with Ileus: A Heralding Presentation of Neuroleptic Malignant Syndrome. ( 30323731 )
2018
8
Afferent loop obstruction with obstructive jaundice and ileus due to an enterolith after distal gastrectomy: A case report. ( 30064120 )
2018
9
The value of the erect abdominal radiograph for the diagnosis of mechanical bowel obstruction and paralytic ileus in adults presenting with acute abdominal pain. ( 30039624 )
2018
10
Protective loop ileostomy increases the risk for prolonged postoperative paralytic ileus after open oncologic rectal resection. ( 30112664 )
2018
11
Small-Bowel Paralytic Ileus From Strongyloides stercoralis. ( 30144518 )
2018
12
Paralytic Ileus and Syndrome of Inappropriate Antidiuretic Hormone Secretion Potentially due to an Interaction Between Vincristine and Voriconazole/Posaconazole. ( 30418228 )
2018
13
Transcatheter aortic valve implantation in a patient with severe aortic valve stenosis, colon cancer, and obstructive ileus: A case report. ( 30279882 )
2018
14
Food ileus secondary to citrus fruit associated with a Meckel's diverticulum: a case report and review of the literature. ( 29644034 )
2018
15
Postoperative ileus following major colorectal surgery. ( 29469195 )
2018
16
Transcutaneous electroacupuncture alleviates postoperative ileus after gastrectomy: A randomized clinical trial. ( 29492186 )
2018
17
Gastrografin may reduce time to oral diet in prolonged post-operative ileus: a pooled analysis of two randomized trials. ( 29510463 )
2018
18
A systematic review of gallstone sigmoid ileus management. ( 29511540 )
2018
19
Gallstone Ileus. ( 29512004 )
2018
20
Disruption of the pacemaker activity of interstitial cells of Cajal via nitric oxide contributes to postoperative ileus. ( 29542843 )
2018
21
Bouveret Syndrome or Gallstone Ileus. ( 29555049 )
2018
22
Role of transient receptor potential melastatin 2 in surgical inflammation and dysmotility in a mouse model of postoperative ileus. ( 29565641 )
2018
23
Relationship between duration of preoperative symptoms and postoperative ileus for small bowel obstruction. ( 29605033 )
2018
24
Daikenchuto for reducing postoperative ileus in patients undergoing elective abdominal surgery. ( 29619778 )
2018
25
Intestinal manipulation affects mucosal antimicrobial defense in a mouse model of postoperative ileus. ( 29652914 )
2018
26
Risk Factors, Additional Length of Stay, and Cost Associated with Postoperative Ileus Following Anterior Lumbar Interbody Fusion in Elderly Patients. ( 29653271 )
2018
27
Systemic Inflammatory Cytokines Predict the Infectious Complications but Not Prolonged Postoperative Ileus after Colorectal Surgery. ( 29692682 )
2018
28
Challenges in ileus research. ( 29700969 )
2018
29
Risk factors for postoperative ileus following elective laparoscopic right colectomy: a retrospective multicentric study. ( 29732465 )
2018
30
Evaluation of the Effect of Oral Pyridostigmine on the Ileus after Abdominal Surgery: A Blinded Randomized Clinical Trial. ( 29734770 )
2018
31
Images in surgery - gallstone ileus. ( 29779475 )
2018
32
Risk Factors for Prolonged Postoperative Ileus in Adult Patients Undergoing Elective Colorectal Surgery: An Observational Cohort Study. ( 29779486 )
2018
33
Gallstone ileus in elderly patients. ( 29795064 )
2018
34
Ileus Following Adult Spinal Deformity Surgery. ( 29803069 )
2018
35
Oral diatrizoate acid for meconium-related ileus in extremely preterm infants. ( 29804321 )
2018
36
From Bouveret's Syndrome to Gallstone Ileus: The Journey of a Migrating Stone! ( 29805939 )
2018
37
Endoscopic versus surgical treatment for a rare form of gallstone ileus: Bouveret's syndrome. Two case reports and review of the literature. ( 29848813 )
2018
38
Gallstone ileus secondary to a cholecystocolonic fistula. ( 29887482 )
2018
39
The effect of simethicone on postoperative ileus in patients undergoing colorectal surgery (SPOT), a randomized controlled trial. ( 29906642 )
2018
40
Electroincision and extraction of a gallstone from the duodenal wall for the prevention of gallstone ileus. ( 29917022 )
2018
41
Gallstone ileus of the sigmoid colon caused by cholecystocolonic fistula: A case report. ( 29922464 )
2018
42
Sources of variability in hospital administrative data: Clinical coding of postoperative ileus. ( 29940796 )
2018
43
Gall stone ileus: Unfamiliar cause of bowel obstruction. Case report and literature review. ( 29960209 )
2018
44
Sigmoid gallstone ileus: A case report and literature review in Japan. ( 29966948 )
2018
45
Corticotrophin-releasing factor-mediated effects of DA-9701 in Postoperative Ileus Guinea Pig Model. ( 29971854 )
2018
46
Laparoscopic two-stage procedure for gallstone ileus. ( 29974881 )
2018
47
Laparoscopic management of sigmoid colon gallstone ileus. ( 29980886 )
2018
48
Alvimopan, Regardless of Ileus Risk, Significantly Impacts Ileus, Length of Stay, and Readmission After Intestinal Surgery. ( 29987738 )
2018
49
Gallstone ileus 1 year after cholecystectomy. ( 29992006 )
2018
50
Investigation of orally delivered carbon monoxide for postoperative ileus. ( 30006245 )
2018

Variations for Meconium Ileus

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

75
# Symbol AA change Variation ID SNP ID
1 GUCY2C p.Asp387Gly VAR_068174 rs587776905

ClinVar genetic disease variations for Meconium Ileus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GUCY2C NM_004963.3(GUCY2C): c.1160A> G (p.Asp387Gly) single nucleotide variant Pathogenic rs587776905 GRCh37 Chromosome 12, 14825817: 14825817
2 GUCY2C NM_004963.3(GUCY2C): c.1160A> G (p.Asp387Gly) single nucleotide variant Pathogenic rs587776905 GRCh38 Chromosome 12, 14672883: 14672883
3 GUCY2C NM_004963.3(GUCY2C): c.2270dupA (p.Asn757Lysfs) duplication Pathogenic rs730880325 GRCh37 Chromosome 12, 14778829: 14778829
4 GUCY2C NM_004963.3(GUCY2C): c.2270dupA (p.Asn757Lysfs) duplication Pathogenic rs730880325 GRCh38 Chromosome 12, 14625895: 14625895
5 GUCY2C NM_004963.3(GUCY2C): c.2782T> C (p.Cys928Arg) single nucleotide variant Pathogenic rs587784573 GRCh38 Chromosome 12, 14619304: 14619304
6 GUCY2C NM_004963.3(GUCY2C): c.2782T> C (p.Cys928Arg) single nucleotide variant Pathogenic rs587784573 GRCh37 Chromosome 12, 14772238: 14772238
7 GUCY2C NM_004963.3(GUCY2C): c.2008G> A (p.Ala670Thr) single nucleotide variant Pathogenic rs587784572 GRCh38 Chromosome 12, 14641142: 14641142
8 GUCY2C NM_004963.3(GUCY2C): c.2008G> A (p.Ala670Thr) single nucleotide variant Pathogenic rs587784572 GRCh37 Chromosome 12, 14794076: 14794076

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 CFTR CLCA1 SLC26A9 SLC4A4 SLC6A14 SLC9A3
2
Show member pathways
11.87 MUC1 MUC2 MUC5AC
3
Show member pathways
11.83 CFTR MUC2 MUC5AC
4
Show member pathways
11.66 MUC1 MUC2 MUC5AC
5
Show member pathways
11.37 MUC1 MUC2 MUC5AC
6 11.11 CFTR CLCA1 SLC4A4
7 10.73 SLC4A4 SLC9A3
8 10.65 CFTR SLC4A4 SLC9A3

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 vesicle GO:0031982 9.43 MUC1 SLC6A14 SLC9A3
2 plasma membrane GO:0005886 9.36 ADIPOR2 CFTR CLCA1 GUCY2C MUC1 MUC2
3 Golgi lumen GO:0005796 9.33 MUC1 MUC2 MUC5AC
4 apical plasma membrane GO:0016324 9.26 CFTR MUC1 SLC26A9 SLC9A3

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 CFTR CLCA1 SLC26A9 SLC4A4 SLC9A3
2 transmembrane transport GO:0055085 9.65 CFTR SLC26A9 SLC4A4 SLC6A14 SLC9A3
3 chloride transmembrane transport GO:1902476 9.54 CFTR CLCA1 SLC26A9
4 chloride transport GO:0006821 9.5 CFTR CLCA1 SLC26A9
5 anion transmembrane transport GO:0098656 9.48 SLC26A9 SLC4A4
6 regulation of intracellular pH GO:0051453 9.46 SLC4A4 SLC9A3
7 anion transport GO:0006820 9.43 SLC26A9 SLC4A4
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.33 MUC1 MUC2 MUC5AC
9 O-glycan processing GO:0016266 9.13 MUC1 MUC2 MUC5AC
10 bicarbonate transport GO:0015701 8.8 CFTR SLC26A9 SLC4A4

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

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

Sources for Meconium Ileus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....