MCID: MCN017
MIFTS: 51

Meconium Ileus

Categories: Genetic diseases, Gastrointestinal diseases, Fetal 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 duodenal atresia and cystic fibrosis, 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 drug Cola has been mentioned in the context of this disorder. Affiliated tissues include pancreas, liver and myeloid, 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 90)
# Related Disease Score Top Affiliating Genes
1 duodenal atresia 30.6 C12orf60 CFTR GUCY2C
2 cystic fibrosis 28.8 CFM1 CFTR CLCA1 GUCY2C MUC2 MUC5AC
3 paralytic ileus 12.3
4 chronic duodenal ileus 12.1
5 cystic fibrosis, modifier of, 1 12.0
6 diarrhea 6 10.8 C12orf60 GUCY2C
7 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.5 CFTR SLC4A4
8 secretory diarrhea 10.4 CFTR GUCY2C SLC9A3
9 intestinal obstruction 10.3
10 pancreatitis 10.2
11 peritonitis 10.2
12 mucinous intrahepatic cholangiocarcinoma 10.1 MUC2 MUC5AC
13 cap polyposis 10.1 MUC2 MUC5AC
14 clear cell adenoma 10.0 MUC2 MUC5AC
15 diarrhea 1, secretory chloride, congenital 10.0
16 aging 10.0
17 congenital chloride diarrhea 10.0
18 intestinal atresia 10.0
19 diarrhea 10.0
20 constipation 10.0
21 polyposis, skin pigmentation, alopecia, and fingernail changes 10.0 MUC2 MUC5AC
22 superior mesenteric artery syndrome 10.0 MUC2 MUC5AC
23 ovarian mucinous neoplasm 9.9 MUC2 MUC5AC
24 hidradenocarcinoma 9.9 MUC2 MUC5AC
25 enterocolitis 9.9
26 jejunal atresia 9.9
27 renal tubular dysgenesis 9.9
28 leukemia, acute myeloid 9.9
29 hepatitis 9.9
30 leukemia 9.9
31 liver disease 9.9
32 niemann-pick disease 9.9
33 colitis 9.9
34 crohn's colitis 9.9
35 siderosis 9.9
36 cholestasis 9.9
37 obstructive jaundice 9.9
38 biliary atresia 9.9
39 intestinal pseudo-obstruction 9.9
40 situs inversus 9.9
41 appendicitis 9.9
42 intestinal volvulus 9.9
43 duodenitis 9.9
44 perinatal necrotizing enterocolitis 9.9
45 myeloid leukemia 9.9
46 dextrocardia with situs inversus 9.9
47 cytomegalovirus infection 9.9
48 renal dysplasia 9.9
49 breast mucoepidermoid carcinoma 9.8 MUC1 MUC5AC
50 cystitis cystica 9.8 MUC2 MUC5AC

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 MUC2 MUC5AC SLC26A9 SLC4A4 SLC9A3 CFTR
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Nutraceutical Phase 4

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 Gastrograļ¬n
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

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
Pancreas, Liver, Myeloid, Appendix, Lung, Small Intestine

Publications for Meconium Ileus

Articles related to Meconium Ileus:

(show top 50) (show all 239)
# 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
Long-term intestinal obstruction sequelae and growth in children with cystic fibrosis operated for meconium ileus: expectancies and surprises. ( 29224788 )
2017
5
Meconium ileus in Cystic Fibrosis. ( 28986020 )
2017
6
Body composition and lung function in children with cystic fibrosis and meconium ileus. ( 28409283 )
2017
7
Comparison of T Tube Ileostomy and Bishop Koop Ileostomy for the Management of Uncomplicated Meconium Ileus. ( 28920016 )
2017
8
Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus. ( 27510896 )
2016
9
Meconium ileus in newborns with cystic fibrosis - results of treatment in the group of patients operated on in the years 2000-2014. ( 26003068 )
2015
10
Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. ( 26087176 )
2015
11
Clinical status and somatic development of patients with or without meconium ileus diagnosed through neonatal screening for cystic fibrosis. ( 26003069 )
2015
12
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. ( 25370039 )
2014
13
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr). ( 24433235 )
2014
14
Cholestasis and meconium ileus in infants with cystic fibrosis and their clinical outcomes. ( 24436365 )
2014
15
Coexistence of meconium ileus with duodenal atresia and trisomy 21 in a newborn: a case report. ( 25359414 )
2014
16
Prenatal diagnosis and management of an intestinal volvulus with meconium ileus and peritonitis. ( 24682585 )
2014
17
Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC. ( 24920497 )
2014
18
[Congenital chloride diarrhea mimicking meconium ileus in newborn]. ( 24519774 )
2013
19
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. ( 23361499 )
2013
20
Intestinal CFTR expression alleviates meconium ileus in cystic fibrosis pigs. ( 23676501 )
2013
21
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. ( 22466613 )
2012
22
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR- activating guanylate cyclase 2C. ( 22521417 )
2012
23
A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. ( 22498395 )
2012
24
Volvulus of small bowel in a case of simple meconium ileus. ( 22953274 )
2011
25
Stability of extemporaneously prepared acetylcysteine 1% and 10% solutions for treatment of meconium ileus. ( 21164069 )
2011
26
Issues in the management of simple and complex meconium ileus. ( 21512809 )
2011
27
Intestinal obstruction syndromes in cystic fibrosis: meconium ileus, distal intestinal obstruction syndrome, and constipation. ( 21384135 )
2011
28
Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis? ( 20672292 )
2010
29
Meconium ileus-it is time to act now! ( 20648665 )
2010
30
Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis. ( 20386322 )
2010
31
Meconium ileus in patients with cystic fibrosis is not a risk factor for clinical deterioration and survival: the Israeli Multicenter Study. ( 19668004 )
2010
32
Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis. ( 20179644 )
2010
33
Diminishing role of contrast enema in simple meconium ileus. ( 19944221 )
2009
34
Long-term pulmonary outcome after meconium ileus in cystic fibrosis. ( 19911366 )
2009
35
Lymphocytic leiomyositis and myenteric ganglionitis are intrinsic features of cystic fibrosis: studies in distal intestinal obstruction syndrome and meconium ileus. ( 19710558 )
2009
36
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. ( 19662435 )
2009
37
Another case of cystic fibrosis complicated by meconium ileus associated with Hirschsprung's disease: a rare and important association. ( 18696083 )
2008
38
Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype. ( 19014055 )
2008
39
Primary resection and anastomosis for complicated meconium ileus: a safe procedure? ( 17882440 )
2007
40
Clinical outcome of cystic fibrosis presenting with or without meconium ileus: a matched cohort study. ( 16952591 )
2006
41
Neonatal intestinal obstruction simulating meconium ileus in infants with long-segment intestinal aganglionosis: radiographic findings that prompt the need for rectal biopsy. ( 16341713 )
2006
42
Use of fetal magnetic resonance imaging in differentiating ileal atresia from meconium ileus. ( 17039463 )
2006
43
Meconium ileus--is a single surgical procedure adequate? ( 16877216 )
2006
44
Immunoreactive trypsin levels in neonates with meconium ileus. ( 16395608 )
2006
45
Failure of medical treatment in an adult cystic fibrosis patient with meconium ileus equivalent. ( 15868498 )
2005
46
Longitudinal pulmonary status of cystic fibrosis children with meconium ileus. ( 15334503 )
2004
47
A novel way to diagnose cystic fibrosis in the neonate with a bowel obstruction and possible meconium ileus. ( 14629510 )
2003
48
Hyperechogenic bowel loops and meconium ileus in a fetus carrying the D1152H and G542X cystic fibrosis CFTR mutations. ( 12124706 )
2002
49
New strategies in nonoperative management of meconium ileus. ( 11987095 )
2002
50
Effect of meconium ileus on the clinical prognosis of patients with cystic fibrosis. ( 11743612 )
2002

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 integral component of plasma membrane GO:0005887 9.73 CFTR CLCA1 MUC1 SLC26A9 SLC4A4 SLC6A14
2 vesicle GO:0031982 9.5 MUC1 SLC6A14 SLC9A3
3 plasma membrane GO:0005886 9.36 ADIPOR2 CFTR CLCA1 GUCY2C MUC1 MUC2
4 Golgi lumen GO:0005796 9.33 MUC1 MUC2 MUC5AC
5 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 9.77 CFTR SLC26A9 SLC4A4 SLC6A14 SLC9A3
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.61 MUC1 MUC2 MUC5AC
4 chloride transmembrane transport GO:1902476 9.5 CFTR CLCA1 SLC26A9
5 anion transmembrane transport GO:0098656 9.48 SLC26A9 SLC4A4
6 anion transport GO:0006820 9.46 SLC26A9 SLC4A4
7 chloride transport GO:0006821 9.43 CFTR CLCA1 SLC26A9
8 O-glycan processing GO:0016266 9.33 MUC1 MUC2 MUC5AC
9 bicarbonate transport GO:0015701 9.13 CFTR SLC26A9 SLC4A4
10 regulation of intracellular pH GO:0051453 8.8 SLC26A9 SLC4A4 SLC9A3

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 8.96 CFTR SLC26A9
2 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
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