MCID: INT060
MIFTS: 42

Intestinal Atresia

Categories: Gastrointestinal diseases

Aliases & Classifications for Intestinal Atresia

Summaries for Intestinal Atresia

MalaCards based summary : Intestinal Atresia is related to neonatal diabetes mellitus and peters-plus syndrome. 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 Bilirubin and Fat Emulsions, Intravenous 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

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 79)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 29.2 GCK PDX1
2 peters-plus syndrome 28.4 FOXC1 PAX6 PITX2
3 umbilical cord ulceration and intestinal atresia 12.4
4 gastrointestinal defects and immunodeficiency syndrome 12.0
5 jejunal atresia 11.8
6 martinez-frias syndrome 11.8
7 mitchell-riley syndrome 11.6
8 atresia of small intestine 11.6
9 short bowel syndrome 11.2
10 duodenal atresia 11.2
11 stromme syndrome 11.1
12 colonic atresia 10.9
13 chromosome 15q24 deletion syndrome 10.9
14 gastroschisis 10.2
15 intussusception 10.1
16 monogenic diabetes 10.1 GCK PDX1
17 combined immunodeficiency, x-linked 10.0
18 pancreatic agenesis 10.0 GCK PDX1
19 microcephaly 10.0
20 axenfeld-rieger syndrome, type 3 10.0 FOXC1 PITX2
21 hydrophthalmos 9.9 FOXC1 PITX2
22 diabetes mellitus, permanent neonatal 9.9 GCK PDX1
23 axenfeld-rieger syndrome, type 2 9.9 FOXC1 PITX2
24 anterior segment dysgenesis 4 9.9 FOXC1 PITX2
25 severe combined immunodeficiency 9.9
26 intraocular pressure quantitative trait locus 9.9 FOXC1 PITX2
27 peritonitis 9.9
28 primary congenital glaucoma 9.8 FOXC1 PITX2
29 isolated aniridia 9.8 FOXC1 PAX6
30 anus, imperforate 9.8
31 enterocolitis 9.8
32 polymicrogyria, bilateral perisylvian, x-linked 9.8
33 meconium ileus 9.8
34 autoinflammation with infantile enterocolitis 9.8
35 diabetes mellitus 9.8
36 jejunoileitis 9.8
37 omphalocele 9.8
38 intestinal obstruction 9.8
39 intestinal volvulus 9.8
40 polyhydramnios 9.8
41 duodenitis 9.8
42 perinatal necrotizing enterocolitis 9.8
43 insulinoma 9.7 GCK PDX1
44 anterior segment dysgenesis 1 9.7 PAX6 PITX2
45 alagille syndrome 1 9.6
46 feingold syndrome 1 9.6
47 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.6
48 hemochromatosis, neonatal 9.6
49 netherton syndrome 9.6
50 pyloric atresia 9.6

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 PDX1 CENPF PITX2 FOXC1 TTC7A GCK
2 endocrine/exocrine gland MP:0005379 9.88 PITX2 FOXC1 TTC7A GCK PAX6 PDX1
3 digestive/alimentary MP:0005381 9.83 PDX1 PITX2 FOXC1 TTC7A PAX6
4 mortality/aging MP:0010768 9.8 PDX1 CENPF PITX2 FOXC1 TTC7A GCK
5 liver/biliary system MP:0005370 9.72 PITX2 FOXC1 TTC7A GCK PDX1
6 muscle MP:0005369 9.55 PDX1 CENPF PITX2 FOXC1 PAX6
7 pigmentation MP:0001186 9.26 PITX2 FOXC1 TTC7A PAX6
8 renal/urinary system MP:0005367 9.02 FOXC1 TTC7A GCK PAX6 PDX1

Drugs & Therapeutics for Intestinal Atresia

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bilirubin Phase 2, Phase 3 635-65-4 5280352
2 Fat Emulsions, Intravenous Phase 2, Phase 3
3 Liver Extracts Phase 2, Phase 3
4 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
5 Gastrointestinal Agents Phase 1, Phase 2
6 glucagon Phase 1, Phase 2
7 Glucagon-Like Peptide 1 Phase 1, Phase 2
8 Hormone Antagonists Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
11 Incretins Phase 1, Phase 2
12 Micronutrients
13 Pharmaceutical Solutions
14 Trace Elements
15 Vitamins
16 lysine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compassionate Use of Omegaven in Children Recruiting NCT02370251 Phase 2, Phase 3 Omegaven
2 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
3 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
4 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:

# Genetic test Affiliating Genes
1 Intestinal Atresia 28

Anatomical Context for Intestinal Atresia

MalaCards organs/tissues related to Intestinal Atresia:

38
Small Intestine, Liver, Smooth Muscle, Pancreas, Colon, Brain, Testes

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 243)
# Title Authors Year
1
Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone. ( 28977809 )
2017
2
Intestinal atresia following chemotherapy, presenting as superior mesenteric artery syndrome: A case report. ( 28855988 )
2017
3
Pregnant woman with polyhydramnios and fetus with small intestinal atresia. ( 28925193 )
2017
4
Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda. ( 28677072 )
2017
5
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
6
Apple-Peel Intestinal Atresia Along with Isolated Jejunal Duplication Cyst in a Newborn - An Extremely Rare Case Report and Brief Review. ( 28764258 )
2017
7
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. ( 27123398 )
2016
8
Alagille syndrome associated with intestinal atresia. ( 26596367 )
2016
9
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. ( 27023781 )
2016
10
Intestinal Atresia: Experience at a Busy Center of North-West India. ( 27896159 )
2016
11
Impact of hospital transfer on surgical outcomes of intestinal atresia. ( 27890332 )
2016
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
MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor. ( 26510977 )
2015
14
Histomorphological Features of Intestinal Atresia and its Clinical Correlation. ( 26674207 )
2015
15
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. ( 24931897 )
2014
16
Population-based study of esophageal and small intestinal atresia/stenosis. ( 24730728 )
2014
17
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. ( 25546680 )
2014
18
Multiple intestinal atresia with combined immune deficiency. ( 25268403 )
2014
19
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
20
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. ( 25534311 )
2014
21
Prolonged feeding difficulties after surgical correction of intestinal atresia: a 13-year experience. ( 25475800 )
2014
22
Ascites, anemia and (intestinal) atresia. ( 24374868 )
2014
23
The clinical significance of pathological studies of congenital intestinal atresia. ( 24094962 )
2013
24
Meconium peritonitis with intestinal atresia mimicking huge tumor in a preterm neonate. ( 23026488 )
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
Intestinal atresia occurring in association with placental fetal thrombotic vasculopathy: a case report with literature review. ( 22989172 )
2013
28
Gastroschisis associated with an omphalocele and intestinal atresia. ( 23917330 )
2013
29
Outcomes of early versus late intestinal operations in patients with gastroschisis and intestinal atresia: results from a prospective national database. ( 24094951 )
2013
30
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. ( 23423984 )
2013
31
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. ( 23830146 )
2013
32
Prenatal intestinal obstruction affects the myenteric plexus and causes functional bowel impairment in fetal rat experimental model of intestinal atresia. ( 23667464 )
2013
33
The use of multiple serial transverse enteroplasty (STEP) procedures for the management of intestinal atresia and short bowel syndrome. ( 23896253 )
2013
34
What is Our Development Progress for the Treatment Outcome of Newborn with Intestinal Atresia and Stenosis in a Period of 28 Years? ( 23641378 )
2013
35
Brown bowel syndrome: a rare and often overlooked complication of intestinal atresia. ( 24404548 )
2013
36
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors. ( 23444056 )
2013
37
Long-term outcomes for infants with intestinal atresia studied at Children's National Medical Center. ( 23666458 )
2013
38
Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient. ( 23790793 )
2013
39
Pre-natal Ultrasonographic Diagnosis of Cystic Meconium Peritonitis with Intestinal Atresia and Its Post-natal Management. ( 24293871 )
2012
40
Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment. ( 22325384 )
2012
41
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin. ( 23084212 )
2012
42
Multiple intestinal anastomoses to avoid short bowel syndrome and stimulate bowel maturity in type IV multiple intestinal atresia and necrotizing enterocolitis. ( 22424368 )
2012
43
Laparoscopy-assisted surgery for neonatal intestinal atresia and stenosis: a report of 35 cases. ( 23143134 )
2012
44
Epidemiology of small intestinal atresia in Europe: a register-based study. ( 22933095 )
2012
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
Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis. ( 20820789 )
2011
48
Multiple intestinal atresias associated with angiodysplasia in a newborn. ( 21763851 )
2011
49
Intestinal atresia and ectopia in a bovine fetus. ( 20926733 )
2011
50
Concordant intestinal atresia in two pairs of monozygotic twins. ( 23705091 )
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:

# 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 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.88 CENPF PAX6 PDX1 PITX2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.87 FOXC1 PAX6 PDX1 PITX2
3 transcription by RNA polymerase II GO:0006366 9.76 FOXC1 PAX6 PDX1 PITX2
4 positive regulation of transcription, DNA-templated GO:0045893 9.73 FOXC1 PAX6 PDX1 PITX2
5 brain development GO:0007420 9.69 FOXC1 PAX6 PITX2
6 regulation of cell migration GO:0030334 9.58 PAX6 PITX2
7 animal organ morphogenesis GO:0009887 9.58 PAX6 PDX1 PITX2
8 glucose metabolic process GO:0006006 9.56 GCK PDX1
9 odontogenesis of dentin-containing tooth GO:0042475 9.55 FOXC1 PITX2
10 blood vessel development GO:0001568 9.54 FOXC1 PAX6
11 glucose homeostasis GO:0042593 9.54 GCK PAX6 PDX1
12 eye development GO:0001654 9.52 FOXC1 PAX6
13 pituitary gland development GO:0021983 9.49 PAX6 PITX2
14 positive regulation of DNA binding GO:0043388 9.48 FOXC1 PITX2
15 iris morphogenesis GO:0061072 9.32 PAX6 PITX2
16 type B pancreatic cell differentiation GO:0003309 9.26 PAX6 PDX1
17 lacrimal gland development GO:0032808 9.16 FOXC1 PAX6
18 camera-type eye development GO:0043010 9.13 FOXC1 PAX6 PITX2
19 detection of glucose GO:0051594 8.62 GCK PDX1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.62 FOXC1 PAX6 PDX1 PITX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.54 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 chromatin binding GO:0003682 9.26 CENPF PAX6 PDX1 PITX2
6 transcription factor binding GO:0008134 8.92 CENPF FOXC1 PAX6 PITX2

Sources for Intestinal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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