MCID: MCN017
MIFTS: 49

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 54 24 71 29 13 69
Ileus 42 69
Intestinal Obstruction in the Newborn Due to Guanylate Cyclase 2c Deficiency 56
Intestinal Obstruction Co-Occurrent and Due to Decreased Peristalsis 69
Meconium Ileus Due to Guanylate Cyclase 2c Deficiency 56
Mecil 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Miscellaneous:
normal sweat electrolytes
no features consistent with cystic fibrosis found in these patients

Inheritance:
autosomal recessive


HPO:

32
meconium ileus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614665
Orphanet 56 ORPHA314376
ICD10 via Orphanet 34 P76.0
MeSH 42 D045823
ICD10 33 K56.7 P76.8

Summaries for Meconium Ileus

OMIM : 54
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 paralytic ileus and situs inversus, and has symptoms including microcolon, 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 CLEC7A (Dectin-1) signaling. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include pancreas, liver and lung, and related phenotypes are digestive/alimentary and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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 85)
id Related Disease Score Top Affiliating Genes
1 paralytic ileus 33.2 CFTR GUCY2C
2 situs inversus 29.9 MUC1 MUC2
3 liver disease 29.3 MUC1 MUC5AC
4 chronic duodenal ileus 11.9
5 cystic fibrosis 11.6
6 spinocerebellar ataxia, autosomal recessive 26 10.7 CFTR SLC4A4
7 partial deep dermal and full thickness burns 10.4 SLC4A4 SLC9A3
8 pericholangitis 10.3 MUC2 SLC4A4
9 motility-related diarrhea 10.2 CFTR GUCY2C SLC9A3
10 anal paget's disease 10.2 CFTR MUC1
11 intestinal obstruction 10.2
12 urinary system disease 10.2 MUC1 MUC2
13 tabes dorsalis 10.2 MUC1 MUC2
14 stricture or kinking of ureter 10.2 MUC1 MUC2
15 anemia of prematurity 10.1 MUC1 MUC2
16 ovarian mucinous adenocarcinoma 10.1 MUC1 MUC2
17 malignant biphasic mesothelioma 10.1 MUC1 MUC2
18 pancreatitis 10.1
19 peritonitis 10.1
20 migraine with aura 10.1 MUC1 MUC2
21 advanced sleep phase syndrome 10.1 MUC1 MUC2
22 kidney benign neoplasm 10.0 MUC1 MUC2
23 pancreatic signet ring cell adenocarcinoma 10.0 MUC1 MUC2
24 ureter adenocarcinoma 10.0 MUC1 MUC2
25 bile duct clear cell adenocarcinoma 10.0 MUC2 MUC5AC
26 idiopathic central precocious puberty 10.0 MUC2 MUC5AC
27 microcystic meningioma 10.0 MUC1 MUC2
28 polysyndactyly with cardiac malformation 10.0 MUC2 MUC5AC
29 brain angioma 10.0 MUC2 MUC5AC
30 striated muscle rhabdoid tumor 10.0 MUC1 MUC2
31 intracranial sinus thrombosis 9.9 MUC2 MUC5AC
32 cecum adenocarcinoma 9.9 MUC1 MUC2
33 intestinal atresia 9.9
34 constipation 9.9
35 childhood ovarian endodermal sinus tumor 9.9 MUC2 MUC5AC
36 prostate small cell carcinoma 9.9 MUC2 MUC5AC
37 hip subluxation 9.9 MUC2 MUC5AC
38 choriocarcinoma 9.8 MUC1 MUC2
39 bile duct mucoepidermoid carcinoma 9.8 MUC1 MUC5AC
40 proliferative type fibrocystic change of breast 9.8 MUC1 MUC5AC
41 uremic neuropathy 9.8 MUC1 MUC5AC
42 struma ovarii 9.8 MUC1 MUC2
43 fallopian tube leiomyosarcoma 9.8 MUC1 MUC2
44 crohn's colitis 9.8
45 intestinal volvulus 9.8
46 siderosis 9.8
47 duodenitis 9.8
48 myeloid leukemia 9.8
49 diarrhea 9.8
50 cytomegalovirus infection 9.8

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:

54

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


Clinical features from OMIM:

614665

Human phenotypes related to Meconium Ileus:

32
id 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:

44
id 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):


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

Interventional clinical trials:


id 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 Intestinal Fatty Acid Binding Protein in Very Low Birth Weight Infants With Meconium Obstruction Completed NCT02864446
4 Benefits and Risks of Newborn Screening for Cystic Fibrosis Completed NCT00014950

Search NIH Clinical Center for Meconium Ileus

Cochrane evidence based reviews: ileus

Genetic Tests for Meconium Ileus

Genetic tests related to Meconium Ileus:

id Genetic test Affiliating Genes
1 Meconium Ileus 29 24 GUCY2C

Anatomical Context for Meconium Ileus

MalaCards organs/tissues related to Meconium Ileus:

39
Pancreas, Liver, Lung, Small Intestine, Myeloid, Appendix

Publications for Meconium Ileus

Articles related to Meconium Ileus:

(show top 50) (show all 231)
id Title Authors Year
1
Comparison of T Tube Ileostomy and Bishop Koop Ileostomy for the Management of Uncomplicated Meconium Ileus. ( 28920016 )
2017
2
Body composition and lung function in children with cystic fibrosis and meconium ileus. ( 28409283 )
2017
3
Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus. ( 27510896 )
2016
4
Clinical status and somatic development of patients with or without meconium ileus diagnosed through neonatal screening for cystic fibrosis. ( 26003069 )
2015
5
Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. ( 26087176 )
2015
6
Meconium ileus in newborns with cystic fibrosis - results of treatment in the group of patients operated on in the years 2000-2014. ( 26003068 )
2015
7
Coexistence of meconium ileus with duodenal atresia and trisomy 21 in a newborn: a case report. ( 25359414 )
2014
8
Prenatal diagnosis and management of an intestinal volvulus with meconium ileus and peritonitis. ( 24682585 )
2014
9
Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC. ( 24920497 )
2014
10
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr). ( 24433235 )
2014
11
Cholestasis and meconium ileus in infants with cystic fibrosis and their clinical outcomes. ( 24436365 )
2014
12
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. ( 25370039 )
2014
13
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. ( 23361499 )
2013
14
Intestinal CFTR expression alleviates meconium ileus in cystic fibrosis pigs. ( 23676501 )
2013
15
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR- activating guanylate cyclase 2C. ( 22521417 )
2012
16
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. ( 22466613 )
2012
17
A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. ( 22498395 )
2012
18
Volvulus of small bowel in a case of simple meconium ileus. ( 22953274 )
2011
19
Intestinal obstruction syndromes in cystic fibrosis: meconium ileus, distal intestinal obstruction syndrome, and constipation. ( 21384135 )
2011
20
Stability of extemporaneously prepared acetylcysteine 1% and 10% solutions for treatment of meconium ileus. ( 21164069 )
2011
21
Issues in the management of simple and complex meconium ileus. ( 21512809 )
2011
22
Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis? ( 20672292 )
2010
23
Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis. ( 20179644 )
2010
24
Meconium ileus-it is time to act now! ( 20648665 )
2010
25
Meconium ileus in patients with cystic fibrosis is not a risk factor for clinical deterioration and survival: the Israeli Multicenter Study. ( 19668004 )
2010
26
Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis. ( 20386322 )
2010
27
Lymphocytic leiomyositis and myenteric ganglionitis are intrinsic features of cystic fibrosis: studies in distal intestinal obstruction syndrome and meconium ileus. ( 19710558 )
2009
28
Long-term pulmonary outcome after meconium ileus in cystic fibrosis. ( 19911366 )
2009
29
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. ( 19662435 )
2009
30
Diminishing role of contrast enema in simple meconium ileus. ( 19944221 )
2009
31
Another case of cystic fibrosis complicated by meconium ileus associated with Hirschsprung's disease: a rare and important association. ( 18696083 )
2008
32
Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype. ( 19014055 )
2008
33
Primary resection and anastomosis for complicated meconium ileus: a safe procedure? ( 17882440 )
2007
34
Clinical outcome of cystic fibrosis presenting with or without meconium ileus: a matched cohort study. ( 16952591 )
2006
35
Neonatal intestinal obstruction simulating meconium ileus in infants with long-segment intestinal aganglionosis: radiographic findings that prompt the need for rectal biopsy. ( 16341713 )
2006
36
Immunoreactive trypsin levels in neonates with meconium ileus. ( 16395608 )
2006
37
Meconium ileus--is a single surgical procedure adequate? ( 16877216 )
2006
38
Use of fetal magnetic resonance imaging in differentiating ileal atresia from meconium ileus. ( 17039463 )
2006
39
Failure of medical treatment in an adult cystic fibrosis patient with meconium ileus equivalent. ( 15868498 )
2005
40
Longitudinal pulmonary status of cystic fibrosis children with meconium ileus. ( 15334503 )
2004
41
A novel way to diagnose cystic fibrosis in the neonate with a bowel obstruction and possible meconium ileus. ( 14629510 )
2003
42
Effect of meconium ileus on the clinical prognosis of patients with cystic fibrosis. ( 11743612 )
2002
43
New strategies in nonoperative management of meconium ileus. ( 11987095 )
2002
44
Hyperechogenic bowel loops and meconium ileus in a fetus carrying the D1152H and G542X cystic fibrosis CFTR mutations. ( 12124706 )
2002
45
Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus. Case report and differential diagnosis of the perinatal iron storage disorders. ( 11700892 )
2001
46
The impact of meconium ileus on the clinical course of children with cystic fibrosis. ( 11757628 )
2001
47
T-tube ileostomy for meconium ileus: four decades of experience. ( 10693694 )
2000
48
A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus. ( 10980555 )
2000
49
Nutritional status of patients with cystic fibrosis with meconium ileus: a comparison with patients without meconium ileus and diagnosed early through neonatal screening. ( 10617704 )
2000
50
Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry. ( 10526657 )
1999

Variations for Meconium Ileus

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

71
id Symbol AA change Variation ID SNP ID
1 GUCY2C p.Asp387Gly VAR_068174 rs587776905

ClinVar genetic disease variations for Meconium Ileus:

6
id 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.2270dupA (p.Asn757Lysfs) duplication Pathogenic rs730880325 GRCh37 Chromosome 12, 14778829: 14778829
3 GUCY2C NM_004963.3(GUCY2C): c.2782T> C (p.Cys928Arg) single nucleotide variant Pathogenic rs587784573 GRCh38 Chromosome 12, 14619304: 14619304
4 GUCY2C NM_004963.3(GUCY2C): c.2008G> A (p.Ala670Thr) single nucleotide variant Pathogenic rs587784572 GRCh38 Chromosome 12, 14641142: 14641142

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 CFTR CLCA1 SLC26A9 SLC4A4 SLC6A14 SLC9A3
2
Show member pathways
12.02 MUC1 MUC2 MUC5AC
3
Show member pathways
11.84 MUC1 MUC2 MUC5AC
4
Show member pathways
11.66 MUC1 MUC2 MUC5AC
5
Show member pathways
11.37 MUC1 MUC2 MUC5AC
6 11.16 SLC26A9 SLC9A3
7 11.11 CFTR CLCA1 SLC4A4
8 10.73 SLC4A4 SLC9A3
9 10.65 CFTR SLC4A4 SLC9A3

GO Terms for Meconium Ileus

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 CFTR MUC1 MUC5AC SLC26A9 SLC4A4 SLC6A14
2 integral component of plasma membrane GO:0005887 9.73 CFTR CLCA1 MUC1 SLC26A9 SLC4A4 SLC6A14
3 vesicle GO:0031982 9.5 MUC1 SLC6A14 SLC9A3
4 plasma membrane GO:0005886 9.36 ADIPOR2 CFTR CLCA1 GUCY2C MUC1 MUC2
5 Golgi lumen GO:0005796 9.33 MUC1 MUC2 MUC5AC
6 apical plasma membrane GO:0016324 9.26 CFTR MUC1 SLC26A9 SLC9A3
7 integral component of membrane GO:0016021 10.06 ADIPOR2 CFTR CLCA1 GUCY2C MUC1 SLC26A9

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

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.77 CFTR CLCA1 SLC26A9 SLC4A4 SLC9A3
2 transmembrane transport GO:0055085 9.65 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 9.58 CFTR CLCA1 SLC26A9
5 chloride transport GO:0006821 9.5 CFTR CLCA1 SLC26A9
6 anion transmembrane transport GO:0098656 9.48 SLC26A9 SLC4A4
7 anion transport GO:0006820 9.46 SLC26A9 SLC4A4
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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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