MCID: INT060
MIFTS: 41

Intestinal Atresia

Categories: Gastrointestinal diseases

Aliases & Classifications for Intestinal Atresia

Summaries for Intestinal Atresia

MalaCards based summary : Intestinal Atresia is related to umbilical cord ulceration and intestinal atresia and pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. An important gene associated with Intestinal Atresia is TTC7A (Tetratricopeptide Repeat Domain 7A), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Heart Development. The drugs Bosentan and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and smooth muscle, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Wikipedia : 72 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 67)
id Related Disease Score Top Affiliating Genes
1 umbilical cord ulceration and intestinal atresia 12.3
2 pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula 11.9
3 gastrointestinal defects and immunodeficiency syndrome 11.8
4 mitchell-riley syndrome 11.5
5 jejunal atresia 11.2
6 gastroschisis 11.2
7 short bowel syndrome 11.1
8 atresia of small intestine 11.1
9 duodenal atresia 11.1
10 stromme syndrome 11.0
11 paraomphalocele 10.8
12 morning glory syndrome 10.1 GCK PDX1
13 intussusception 10.0
14 distal muscular dystrophy 10.0 GCK PDX1
15 larsen-like syndrome 10.0 FOXC1 PITX2
16 conjunctival folliculosis 10.0 FOXC1 PITX2
17 mitral valve prolapse, myxomatous 3 9.9 FOXC1 PITX2
18 cardiac arrhythmia, ankyrin-b-related 9.9 FOXC1 PITX2
19 microcephaly 9.9
20 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.9 GCK PDX1
21 severe combined immunodeficiency 9.8
22 peritonitis 9.8
23 jag1-related alagille syndrome 9.8 FOXC1 PAX6
24 taeniasis 9.8 FOXC1 PITX2
25 jejunoileitis 9.7
26 omphalocele 9.7
27 intestinal obstruction 9.7
28 intestinal volvulus 9.7
29 imperforate anus 9.7
30 meconium ileus 9.7
31 polyhydramnios 9.7
32 duodenitis 9.7
33 diaphanospondylodysostosis 9.7 GCK PDX1
34 cataract 11, multiple types 9.6 PAX6 PITX2
35 hepatitis 9.5
36 angiodysplasia 9.5
37 superior mesenteric artery syndrome 9.5
38 situs inversus 9.5
39 umbilical hernia 9.5
40 neuronitis 9.5
41 thrombosis 9.5
42 netherton syndrome 9.5
43 mucositis 9.5
44 frias syndrome 9.5
45 hemochromatosis 9.5
46 neonatal diabetes mellitus 9.5
47 meckel's diverticulum 9.5
48 esophagitis 9.5
49 cholestasis 9.5
50 encephalocele 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 growth/size/body region MP:0005378 10.01 CENPF FABP2 FOXC1 GCK PAX6 PDX1
2 endocrine/exocrine gland MP:0005379 9.91 FOXC1 GCK PAX6 PDX1 PITX2 TTC7A
3 homeostasis/metabolism MP:0005376 9.91 FABP2 FOXC1 GCK PAX6 PDX1 PITX2
4 digestive/alimentary MP:0005381 9.85 TTC7A FOXC1 PAX6 PDX1 PITX2
5 liver/biliary system MP:0005370 9.8 FABP2 FOXC1 GCK PDX1 PITX2 TTC7A
6 mortality/aging MP:0010768 9.8 CENPF FOXC1 GCK PAX6 PDX1 PITX2
7 muscle MP:0005369 9.55 CENPF FOXC1 PAX6 PDX1 PITX2
8 pigmentation MP:0001186 9.26 FOXC1 PAX6 PITX2 TTC7A
9 renal/urinary system MP:0005367 9.1 FABP2 FOXC1 GCK PAX6 PDX1 TTC7A

Drugs & Therapeutics for Intestinal Atresia

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

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
2 Antihypertensive Agents Phase 2
3 Endothelin Receptor Antagonists Phase 2
4 Liver Extracts Phase 2
5 Pharmaceutical Solutions Phase 2
6 Antioxidants Phase 2
7
Bilirubin Phase 2 635-65-4 5280352
8 Fat Emulsions, Intravenous Phase 2
9 Parenteral Nutrition Solutions Phase 2
10 Protective Agents Phase 2
11 Soybean oil, phospholipid emulsion Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 glucagon 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 Omega 3 Fatty Acid Nutraceutical Phase 2
20 Soy Bean 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 Micronutrients
26 Trace Elements
27 Vitamins
28 Dialysis Solutions Early Phase 1
29 lysine Nutraceutical
30 Acidophilus Nutraceutical
31 alanine Nutraceutical
32 glutamine Nutraceutical

Interventional clinical trials:

(show all 14)

id Name Status NCT ID Phase Drugs
1 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
2 Compassionate Use of Omegaven in Children Recruiting NCT02370251 Phase 2 Omegaven;Omegaven + Intralipid
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 Glucagon-Like Peptide 2;Glucagon like peptide-2
4 Gastrointestinal Microbiota in Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Completed NCT01322386 Phase 1 Vancomycin
5 Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Recruiting NCT02137668 Phase 1 Oral Vancomycin
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 Lactobacillus casei rhamnosus (Lcr35);Neomycin
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 Glutamine
12 Trail to Investigate the Effectiveness of CoSeal in Reducing Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia Recruiting NCT01745991
13 Direct Peritoneal Resuscitation in Gastroschisis Not yet recruiting NCT03205553 Early Phase 1 Investigational Treatment Group
14 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, Liver, Smooth Muscle, Pancreas, Colon, Brain, Testes

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 242)
id Title Authors Year
1
Pregnant woman with polyhydramnios and fetus with small intestinal atresia. ( 28925193 )
2017
2
Apple-Peel Intestinal Atresia Along with Isolated Jejunal Duplication Cyst in a Newborn - An Extremely Rare Case Report and Brief Review. ( 28764258 )
2017
3
Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda. ( 28677072 )
2017
4
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
5
Intestinal atresia following chemotherapy, presenting as superior mesenteric artery syndrome: A case report. ( 28855988 )
2017
6
Impact of hospital transfer on surgical outcomes of intestinal atresia. ( 27890332 )
2016
7
Intestinal Atresia: Experience at a Busy Center of North-West India. ( 27896159 )
2016
8
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. ( 27123398 )
2016
9
Alagille syndrome associated with intestinal atresia. ( 26596367 )
2016
10
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. ( 27023781 )
2016
11
MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor. ( 26510977 )
2015
12
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
13
Histomorphological Features of Intestinal Atresia and its Clinical Correlation. ( 26674207 )
2015
14
Multiple intestinal atresia with combined immune deficiency. ( 25268403 )
2014
15
Prolonged feeding difficulties after surgical correction of intestinal atresia: a 13-year experience. ( 25475800 )
2014
16
Ascites, anemia and (intestinal) atresia. ( 24374868 )
2014
17
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. ( 25534311 )
2014
18
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. ( 25546680 )
2014
19
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. ( 24931897 )
2014
20
Population-based study of esophageal and small intestinal atresia/stenosis. ( 24730728 )
2014
21
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
22
Prenatal intestinal obstruction affects the myenteric plexus and causes functional bowel impairment in fetal rat experimental model of intestinal atresia. ( 23667464 )
2013
23
Meconium peritonitis with intestinal atresia mimicking huge tumor in a preterm neonate. ( 23026488 )
2013
24
What is Our Development Progress for the Treatment Outcome of Newborn with Intestinal Atresia and Stenosis in a Period of 28 Years? ( 23641378 )
2013
25
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. ( 23830146 )
2013
26
Apple-peel intestinal atresia: enteroplasty for intestinal lengthening and primary anastomosis. ( 23845656 )
2013
27
Intestinal atresia occurring in association with placental fetal thrombotic vasculopathy: a case report with literature review. ( 22989172 )
2013
28
Long-term outcomes for infants with intestinal atresia studied at Children's National Medical Center. ( 23666458 )
2013
29
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors. ( 23444056 )
2013
30
Gastroschisis associated with an omphalocele and intestinal atresia. ( 23917330 )
2013
31
The clinical significance of pathological studies of congenital intestinal atresia. ( 24094962 )
2013
32
Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient. ( 23790793 )
2013
33
Brown bowel syndrome: a rare and often overlooked complication of intestinal atresia. ( 24404548 )
2013
34
The use of multiple serial transverse enteroplasty (STEP) procedures for the management of intestinal atresia and short bowel syndrome. ( 23896253 )
2013
35
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. ( 23423984 )
2013
36
Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation. ( 24096803 )
2013
37
Outcomes of early versus late intestinal operations in patients with gastroschisis and intestinal atresia: results from a prospective national database. ( 24094951 )
2013
38
Multiple intestinal anastomoses to avoid short bowel syndrome and stimulate bowel maturity in type IV multiple intestinal atresia and necrotizing enterocolitis. ( 22424368 )
2012
39
Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment. ( 22325384 )
2012
40
Laparoscopy-assisted surgery for neonatal intestinal atresia and stenosis: a report of 35 cases. ( 23143134 )
2012
41
Epidemiology of small intestinal atresia in Europe: a register-based study. ( 22933095 )
2012
42
Pre-natal Ultrasonographic Diagnosis of Cystic Meconium Peritonitis with Intestinal Atresia and Its Post-natal Management. ( 24293871 )
2012
43
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin. ( 23084212 )
2012
44
Concordant intestinal atresia in two pairs of monozygotic twins. ( 23705091 )
2011
45
Early colonization of intestinal bifidobacteria and lactobacilli in the postoperative neonates with congenital intestinal atresia. ( 21384062 )
2011
46
Intestinal atresia and ectopia in a bovine fetus. ( 20926733 )
2011
47
Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis. ( 20820789 )
2011
48
Medical management of motility disorders in patients with intestinal failure: a focus on necrotizing enterocolitis, gastroschisis, and intestinal atresia. ( 21843732 )
2011
49
Laparoscopy-assisted surgery for neonatal intestinal atresia: single-center experience(*). ( 22776229 )
2011
50
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

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

Cellular components related to Intestinal Atresia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.1 CENPF FOXC1 GCK PAX6 PDX1 PITX2

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.91 CENPF PAX6 PDX1 PITX2
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.88 FOXC1 PAX6 PDX1 PITX2
3 positive regulation of transcription, DNA-templated GO:0045893 9.78 FOXC1 PAX6 PDX1 PITX2
4 transcription from RNA polymerase II promoter GO:0006366 9.76 FOXC1 PAX6 PDX1 PITX2
5 brain development GO:0007420 9.69 FOXC1 PAX6 PITX2
6 animal organ morphogenesis GO:0009887 9.61 PAX6 PDX1 PITX2
7 response to wounding GO:0009611 9.6 PAX6 PDX1
8 regulation of cell migration GO:0030334 9.59 PAX6 PITX2
9 smoothened signaling pathway GO:0007224 9.58 PAX6 PDX1
10 glucose homeostasis GO:0042593 9.58 GCK PAX6 PDX1
11 glucose metabolic process GO:0006006 9.57 GCK PDX1
12 odontogenesis of dentin-containing tooth GO:0042475 9.56 FOXC1 PITX2
13 blood vessel development GO:0001568 9.55 FOXC1 PAX6
14 positive regulation of insulin secretion GO:0032024 9.54 GCK PDX1
15 eye development GO:0001654 9.52 FOXC1 PAX6
16 pituitary gland development GO:0021983 9.49 PAX6 PITX2
17 iris morphogenesis GO:0061072 9.37 PAX6 PITX2
18 camera-type eye development GO:0043010 9.33 FOXC1 PAX6 PITX2
19 type B pancreatic cell differentiation GO:0003309 9.32 PAX6 PDX1
20 lacrimal gland development GO:0032808 9.26 FOXC1 PAX6
21 detection of glucose GO:0051594 8.96 GCK PDX1
22 positive regulation of DNA binding GO:0043388 8.8 FOXC1 PDX1 PITX2

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.67 FOXC1 PAX6 PDX1 PITX2
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.5 PAX6 PDX1 PITX2
3 sequence-specific DNA binding GO:0043565 9.46 FOXC1 PAX6 PDX1 PITX2
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.43 FOXC1 PAX6 PITX2
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.4 FOXC1 PDX1
6 chromatin binding GO:0003682 9.26 CENPF PAX6 PDX1 PITX2
7 transcription factor binding GO:0008134 9.02 CENPF 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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