MCID: INT060
MIFTS: 42

Intestinal Atresia malady

Categories: Gastrointestinal diseases

Aliases & Classifications for Intestinal Atresia

Summaries for Intestinal Atresia

MalaCards based summary : Intestinal Atresia is related to peters anomaly and umbilical cord ulceration and intestinal atresia. An important gene associated with Intestinal Atresia is TTC7A (Tetratricopeptide Repeat Domain 7A), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Regulation of beta-cell development. The drugs Bosentan and Endothelin Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include small intestine, smooth muscle and colon, and related phenotypes are endocrine/exocrine gland and digestive/alimentary

Wikipedia : 71 Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the... more...

Related Diseases for Intestinal Atresia

Diseases related to Intestinal Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 29.3 FOXC1 PAX6
2 umbilical cord ulceration and intestinal atresia 12.3
3 pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula 11.9
4 gastrointestinal defects and immunodeficiency syndrome 11.8
5 mitchell-riley syndrome 11.5
6 atresia of small intestine 11.5
7 jejunal atresia 11.3
8 ciliary dyskinesia, primary, 31 10.9
9 gastroschisis 10.1
10 scapuloperoneal syndrome, myopathic type 10.1 FOXC1 PITX2
11 mosaic trisomy 13 10.1 GCK PDX1
12 distal muscular dystrophy 10.1 GCK PDX1
13 conjunctival folliculosis 10.0 FOXC1 PITX2
14 cardiac arrhythmia, ankyrin-b-related 10.0 FOXC1 PITX2
15 kcnj10-related pendred syndrome 10.0 FOXC1 PAX6
16 non-syndromic intellectual disability 10.0 GCK PDX1
17 intussusception 10.0
18 ring dermoid of cornea 9.9 PAX6 PITX2
19 focal segmental glomerulosclerosis 8 9.9 GCK PDX1
20 microcephaly 9.9
21 aphakia, congenital primary 9.9 FOXC1 PAX6 PITX2
22 jph2-related familial hypertrophic cardiomyopathy 9.9 FOXC1 PAX6 PITX2
23 skin granular cell tumor 9.9 FOXC1 PAX6 PITX2
24 cornea plana 9.8 FOXC1 PAX6 PITX2
25 hypertrophy of breast 9.8 FOXC1 PAX6 PITX2
26 severe combined immunodeficiency 9.8
27 deafness, autosomal recessive 91 9.8 FOXC1 PAX6 PITX2
28 muir-torre syndrome 9.8 FOXC1 PAX6 PITX2
29 peritonitis 9.8
30 congenital stationary night blindness 9.7 GCK PAX6 PDX1 RFX6
31 myopia 7 9.7 FOXC1 PAX6 PDX1 PITX2
32 jejunoileitis 9.7
33 omphalocele 9.7
34 intestinal obstruction 9.7
35 intestinal volvulus 9.7
36 meconium ileus 9.7
37 imperforate anus 9.7
38 short bowel syndrome 9.7
39 duodenitis 9.7
40 situs inversus 9.5
41 umbilical hernia 9.5
42 neuronitis 9.5
43 thrombosis 9.5
44 mucositis 9.5
45 frias syndrome 9.5
46 polyhydramnios 9.5
47 feingold syndrome 9.5
48 hemochromatosis 9.5
49 meckel's diverticulum 9.5
50 alagille syndrome 9.5

Graphical network of the top 20 diseases related to Intestinal Atresia:



Diseases related to Intestinal Atresia

Symptoms & Phenotypes for Intestinal Atresia

MGI Mouse Phenotypes related to Intestinal Atresia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.95 RFX6 TTC7A FOXC1 GCK PAX6 PDX1
2 digestive/alimentary MP:0005381 9.91 FOXC1 PAX6 PDX1 PITX2 RFX6 TTC7A
3 growth/size/body region MP:0005378 9.91 FOXC1 GCK PAX6 PDX1 PITX2 RFX6
4 homeostasis/metabolism MP:0005376 9.87 FOXC1 GCK PAX6 PDX1 PITX2 RFX6
5 mortality/aging MP:0010768 9.7 FOXC1 GCK PAX6 PDX1 PITX2 RFX6
6 liver/biliary system MP:0005370 9.65 FOXC1 GCK PDX1 PITX2 TTC7A
7 pigmentation MP:0001186 9.26 FOXC1 PAX6 PITX2 TTC7A
8 renal/urinary system MP:0005367 9.02 FOXC1 GCK PAX6 PDX1 TTC7A

Drugs & Therapeutics for Intestinal Atresia

Drugs for Intestinal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
2 Endothelin Receptor Antagonists Phase 2
3 Pharmaceutical Solutions Phase 2
4 Antihypertensive Agents Phase 2
5 Liver Extracts Phase 2
6
Bilirubin Phase 2 635-65-4 5280352
7 Soybean oil, phospholipid emulsion Phase 2
8 Parenteral Nutrition Solutions Phase 2
9 Fat Emulsions, Intravenous Phase 2
10 Protective Agents Phase 2
11 Antioxidants Phase 2
12 glucagon Phase 1, Phase 2
13 Gastrointestinal Agents Phase 1, Phase 2
14 Glucagon-Like Peptide 1 Phase 1, Phase 2
15 Hormone Antagonists Phase 1, Phase 2
16 Hormones Phase 1, Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
18 Incretins Phase 1, Phase 2
19 Soy Bean Nutraceutical Phase 2
20 Omega 3 Fatty Acid Nutraceutical Phase 2
21
Vancomycin Approved Phase 1 1404-90-6 441141 14969
22 Anti-Bacterial Agents Phase 1
23 Anti-Infective Agents Phase 1
24
Neomycin Approved, Vet_approved 1404-04-2 8378
25 Trace Elements
26 Vitamins
27 Micronutrients
28 Alpha 1-Antitrypsin
29 Protein C Inhibitor
30 Bile Acids and Salts
31 lysine Nutraceutical
32 alanine Nutraceutical
33 glutamine Nutraceutical
34 Acidophilus Nutraceutical
35 Cola Nutraceutical

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2
2 Compassionate Use of Omegaven in Children Recruiting NCT02370251 Phase 2
3 Safety and Dosing Study of Glucagon-like Peptide 2 (GLP-2) in Infants and Children With Intestinal Failure Terminated NCT01573286 Phase 1, Phase 2
4 Gastrointestinal Microbiota in Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Completed NCT01322386 Phase 1
5 Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Recruiting NCT02137668 Phase 1
6 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
7 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
8 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia After the Kasai Portoenterostomy Completed NCT00166868
9 Modified Perfusion for Neonatal Aortic Arch Reconstruction Completed NCT00490256
10 Survival With Own Liver of Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699
11 Enteral Glutamine in Reducing Bloodstream Infections in Short Bowel Syndrome Infants Completed NCT01576003
12 Trail to Investigate the Effectiveness of CoSeal in Reducing Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia Recruiting NCT01745991
13 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
14 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
15 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Recruiting NCT02296008
16 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
17 Omegaven for Compassionate Use in the Treatment of Parenteral Nutrition-Associated Liver Disease Available NCT03072667
18 Long-term Outcome in Patients With Anorectal Malformations Not yet recruiting NCT02624232
19 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815

Search NIH Clinical Center for Intestinal Atresia

Cochrane evidence based reviews: intestinal atresia

Genetic Tests for Intestinal Atresia

Genetic tests related to Intestinal Atresia:

id Genetic test Affiliating Genes
1 Intestinal Atresia 29

Anatomical Context for Intestinal Atresia

MalaCards organs/tissues related to Intestinal Atresia:

39
Small Intestine, Smooth Muscle, Colon, Brain, Pancreas, Testes, Skin

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 237)
id Title Authors Year
1
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. ( 27023781 )
2016
2
Intestinal Atresia: Experience at a Busy Center of North-West India. ( 27896159 )
2016
3
Impact of hospital transfer on surgical outcomes of intestinal atresia. ( 27890332 )
2016
4
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. ( 27123398 )
2016
5
Alagille syndrome associated with intestinal atresia. ( 26596367 )
2016
6
Histomorphological Features of Intestinal Atresia and its Clinical Correlation. ( 26674207 )
2015
7
Correction: the complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life. ( 25866737 )
2015
8
MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor. ( 26510977 )
2015
9
Population-based study of esophageal and small intestinal atresia/stenosis. ( 24730728 )
2014
10
The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life. ( 25587526 )
2014
11
Multiple intestinal atresia with combined immune deficiency. ( 25268403 )
2014
12
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. ( 24931897 )
2014
13
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. ( 25546680 )
2014
14
Prolonged feeding difficulties after surgical correction of intestinal atresia: a 13-year experience. ( 25475800 )
2014
15
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. ( 25534311 )
2014
16
Ascites, anemia and (intestinal) atresia. ( 24374868 )
2014
17
Prenatal intestinal obstruction affects the myenteric plexus and causes functional bowel impairment in fetal rat experimental model of intestinal atresia. ( 23667464 )
2013
18
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors. ( 23444056 )
2013
19
Outcomes of early versus late intestinal operations in patients with gastroschisis and intestinal atresia: results from a prospective national database. ( 24094951 )
2013
20
Intestinal atresia occurring in association with placental fetal thrombotic vasculopathy: a case report with literature review. ( 22989172 )
2013
21
Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient. ( 23790793 )
2013
22
What is Our Development Progress for the Treatment Outcome of Newborn with Intestinal Atresia and Stenosis in a Period of 28 Years? ( 23641378 )
2013
23
Meconium peritonitis with intestinal atresia mimicking huge tumor in a preterm neonate. ( 23026488 )
2013
24
Gastroschisis associated with an omphalocele and intestinal atresia. ( 23917330 )
2013
25
Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation. ( 24096803 )
2013
26
Apple-peel intestinal atresia: enteroplasty for intestinal lengthening and primary anastomosis. ( 23845656 )
2013
27
The clinical significance of pathological studies of congenital intestinal atresia. ( 24094962 )
2013
28
Brown bowel syndrome: a rare and often overlooked complication of intestinal atresia. ( 24404548 )
2013
29
The use of multiple serial transverse enteroplasty (STEP) procedures for the management of intestinal atresia and short bowel syndrome. ( 23896253 )
2013
30
Long-term outcomes for infants with intestinal atresia studied at Children's National Medical Center. ( 23666458 )
2013
31
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. ( 23830146 )
2013
32
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. ( 23423984 )
2013
33
Epidemiology of small intestinal atresia in Europe: a register-based study. ( 22933095 )
2012
34
Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment. ( 22325384 )
2012
35
Multiple intestinal anastomoses to avoid short bowel syndrome and stimulate bowel maturity in type IV multiple intestinal atresia and necrotizing enterocolitis. ( 22424368 )
2012
36
Laparoscopy-assisted surgery for neonatal intestinal atresia and stenosis: a report of 35 cases. ( 23143134 )
2012
37
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin. ( 23084212 )
2012
38
Pre-natal Ultrasonographic Diagnosis of Cystic Meconium Peritonitis with Intestinal Atresia and Its Post-natal Management. ( 24293871 )
2012
39
Early colonization of intestinal bifidobacteria and lactobacilli in the postoperative neonates with congenital intestinal atresia. ( 21384062 )
2011
40
Intestinal atresia and ectopia in a bovine fetus. ( 20926733 )
2011
41
Multiple intestinal atresias associated with angiodysplasia in a newborn. ( 21763851 )
2011
42
Concordant intestinal atresia in two pairs of monozygotic twins. ( 23705091 )
2011
43
Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis. ( 20820789 )
2011
44
Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years. ( 22715199 )
2011
45
Laparoscopy-assisted surgery for neonatal intestinal atresia: single-center experience(*). ( 22776229 )
2011
46
Medical management of motility disorders in patients with intestinal failure: a focus on necrotizing enterocolitis, gastroschisis, and intestinal atresia. ( 21843732 )
2011
47
Intestinal atresia in association with gastroschisis: a 26-year review. ( 20676892 )
2010
48
Balloon dilatation of postoperative small bowel anastomotic stricture in an infant with apple peel intestinal atresia after serial transverse enteroplasty and jejunoileal anastomosis. ( 21129527 )
2010
49
Multiple intestinal atresia and congenital bilateral perisylvian syndrome in a surviving monochorionic twin with intrauterine death of the co-twin. ( 20713201 )
2010
50
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. ( 19887127 )
2010

Variations for Intestinal Atresia

Expression for Intestinal Atresia

Search GEO for disease gene expression data for Intestinal Atresia.

Pathways for Intestinal Atresia

GO Terms for Intestinal Atresia

Biological processes related to Intestinal Atresia according to GeneCards Suite gene sharing:

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 PAX6 PDX1 PITX2 RFX6
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.89 FOXC1 PAX6 PDX1 PITX2 RFX6
3 positive regulation of transcription, DNA-templated GO:0045893 9.77 FOXC1 PAX6 PDX1 PITX2 RFX6
4 brain development GO:0007420 9.72 FOXC1 PAX6 PITX2
5 transcription from RNA polymerase II promoter GO:0006366 9.72 FOXC1 PAX6 PDX1 PITX2 RFX6
6 animal organ morphogenesis GO:0009887 9.65 PAX6 PDX1 PITX2
7 response to wounding GO:0009611 9.62 PAX6 PDX1
8 regulation of cell migration GO:0030334 9.61 PAX6 PITX2
9 smoothened signaling pathway GO:0007224 9.61 PAX6 PDX1
10 regulation of insulin secretion GO:0050796 9.6 GCK RFX6
11 glucose metabolic process GO:0006006 9.59 GCK PDX1
12 odontogenesis of dentin-containing tooth GO:0042475 9.58 FOXC1 PITX2
13 blood vessel development GO:0001568 9.58 FOXC1 PAX6
14 camera-type eye development GO:0043010 9.58 FOXC1 PAX6 PITX2
15 positive regulation of insulin secretion GO:0032024 9.57 GCK PDX1
16 eye development GO:0001654 9.56 FOXC1 PAX6
17 pituitary gland development GO:0021983 9.54 PAX6 PITX2
18 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.52 PDX1 RFX6
19 endocrine pancreas development GO:0031018 9.51 PDX1 RFX6
20 iris morphogenesis GO:0061072 9.46 PAX6 PITX2
21 lacrimal gland development GO:0032808 9.43 FOXC1 PAX6
22 positive regulation of DNA binding GO:0043388 9.33 FOXC1 PDX1 PITX2
23 detection of glucose GO:0051594 9.26 GCK PDX1
24 glucose homeostasis GO:0042593 9.26 GCK PAX6 PDX1 RFX6
25 type B pancreatic cell differentiation GO:0003309 8.8 PAX6 PDX1 RFX6

Molecular functions related to Intestinal Atresia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.88 FOXC1 PAX6 PDX1 PITX2 RFX6
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.71 FOXC1 PAX6 PDX1 PITX2
3 chromatin binding GO:0003682 9.63 PAX6 PDX1 PITX2
4 sequence-specific DNA binding GO:0043565 9.56 FOXC1 PAX6 PDX1 PITX2
5 transcription regulatory region DNA binding GO:0044212 9.54 FOXC1 PAX6 RFX6
6 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.5 FOXC1 PAX6 PITX2
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 FOXC1 PDX1
8 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.33 FOXC1 PAX6 RFX6
9 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.26 PAX6 PDX1 PITX2 RFX6
10 transcription factor binding GO:0008134 8.92 FOXC1 PAX6 PDX1 PITX2

Sources for Intestinal Atresia

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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