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 gastrointestinal defects and immunodeficiency syndrome and neonatal diabetes mellitus. 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 Fat Emulsions, Intravenous and Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include small intestine, colon and liver, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 75 Intestinal atresia is any congenital malformation of the intestine which causes bowel obstruction. 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 142)
# Related Disease Score Top Affiliating Genes
1 gastrointestinal defects and immunodeficiency syndrome 34.1 TTC7A TEF
2 neonatal diabetes mellitus 29.6 PLAGL1 PDX1 GCK
3 peters-plus syndrome 28.6 PITX2 PAX6 FOXC1
4 umbilical cord ulceration and intestinal atresia 12.7
5 jejunal atresia 12.3
6 hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome 12.3
7 stromme syndrome 12.2
8 mitchell-riley syndrome 12.2
9 martinez-frias syndrome 12.1
10 atresia of small intestine 11.8
11 duodenal atresia 11.6
12 gastroschisis 11.6
13 abdominal wall defect 11.6
14 colonic atresia 11.5
15 short bowel syndrome 11.5
16 chromosome 15q24 deletion syndrome 11.2
17 paraomphalocele 11.2
18 intestinal obstruction 10.5
19 peritonitis 10.4
20 maturity-onset diabetes of the young, type 4 10.3 PDX1 GCK
21 intussusception 10.3
22 maturity-onset diabetes of the young, type 2 10.3 PDX1 GCK
23 combined t cell and b cell immunodeficiency 10.3
24 maturity-onset diabetes of the young, type 3 10.3 PDX1 GCK
25 enterocolitis 10.3
26 ileus 10.3
27 immune deficiency disease 10.2
28 intestinal volvulus 10.2
29 pancreatic agenesis 10.2 PDX1 GCK
30 perinatal necrotizing enterocolitis 10.2
31 microcephaly 10.2
32 pancreas, annular 10.2
33 pyloric atresia 10.2
34 meconium ileus 10.2
35 severe combined immunodeficiency 10.2
36 polyhydramnios 10.2
37 renal cysts and diabetes syndrome 10.2 PDX1 GCK
38 down syndrome 10.2
39 cholestasis 10.2
40 duodenal obstruction 10.1
41 maturity-onset diabetes of the young, type 6 10.1 PDX1 GCK
42 chromosomal triplication 10.1
43 monogenic diabetes 10.1 PDX1 GCK
44 hydrophthalmos 10.0 PITX2 FOXC1
45 axenfeld-rieger syndrome, type 2 10.0 PITX2 FOXC1
46 tracheoesophageal fistula with or without esophageal atresia 10.0
47 graft-versus-host disease 10.0
48 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
49 autosomal recessive disease 10.0
50 esophageal atresia 10.0

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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 CENPF FABP2 FOXC1 GCK PAX6 PDX1
2 cardiovascular system MP:0005385 10.04 CENPF FOXC1 PAX6 PITX2 PLAGL1 TEF
3 homeostasis/metabolism MP:0005376 10.01 FABP2 FOXC1 GCK PAX6 PDX1 PITX2
4 endocrine/exocrine gland MP:0005379 9.93 FOXC1 GCK PAX6 PDX1 PITX2 TTC7A
5 mortality/aging MP:0010768 9.91 CENPF FOXC1 GCK PAX6 PDX1 PITX2
6 digestive/alimentary MP:0005381 9.88 FOXC1 PAX6 PDX1 PITX2 TTC7A
7 liver/biliary system MP:0005370 9.87 FABP2 FOXC1 GCK PDX1 PITX2 TEF
8 integument MP:0010771 9.77 FOXC1 PAX6 PDX1 PLAGL1 TTC7A
9 muscle MP:0005369 9.55 CENPF FOXC1 PAX6 PDX1 PITX2
10 pigmentation MP:0001186 9.26 FOXC1 PAX6 PITX2 TTC7A
11 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fat Emulsions, Intravenous Phase 2, Phase 3
2 Omega 3 Fatty Acid Phase 2, Phase 3
3 Liver Extracts Phase 2, Phase 3
4
Bilirubin Phase 2, Phase 3 635-65-4, 69853-43-6 5280352 21252250
5
Glucagon Approved Phase 1, Phase 2 16941-32-5
6 Gastrointestinal Agents Phase 1, Phase 2
7 Hormones Phase 1, Phase 2
8 Glucagon-Like Peptide 1 Phase 1, Phase 2
9 Hormone Antagonists Phase 1, Phase 2
10 Incretins Phase 1, Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
12 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fish Oil Lipid Emulsion for the Treatment of Parenteral-Nutrition-Associated Liver Disease in Infants Active, not recruiting NCT02370251 Phase 2, Phase 3 Omegaven
2 Phase 1-2 Trial 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 Comparing Stapled Anastomosis With Hand-sewn in Neonate With Intestinal Atresia Recruiting NCT03754907
4 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Recruiting NCT03666767
5 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746
6 The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. Not yet recruiting NCT04020939 Indocyanine Green
7 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815
8 Early Delivery in Fetal Gastroschisis: a Randomized Controlled Trial of Elective Early Delivery Versus Routine Obstetrical Care Terminated NCT01884324

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 29

Anatomical Context for Intestinal Atresia

MalaCards organs/tissues related to Intestinal Atresia:

41
Small Intestine, Colon, Liver, Smooth Muscle, Pancreas, Appendix, Skin

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 746)
# Title Authors PMID Year
1
Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency. 38
31342292 2019
2
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. 38
31111652 2019
3
New features of aplasia cutis congenita type 5 - Skin atrophy associated with respiratory insufficiency and multiple intestinal atresia caused by the early death of twin fetus. 38
30316734 2019
4
The outcome of Bishop-Koop procedure compared to divided stoma in neonates with meconium ileus, congenital intestinal atresia and necrotizing enterocolitis. 38
31277168 2019
5
Transumbilical minilaparotomy in low-birthweight newborns for complicated conditions. 38
30145106 2019
6
Mucosal Monosaccharide Transporter Expression in Newborns with Jejunoileal Atresia and Along the Adult Intestine. 38
31261244 2019
7
Single umbilical artery and risk of congenital malformations: a population-based study in Norway. 38
31132166 2019
8
Neonatal Intestinal Anastomosis Using a 5 mm Laparoscopic Stapler. 38
30767703 2019
9
Primary versus secondary anastomosis in intestinal atresia. 38
29880397 2019
10
Umbilical Cord Ulcer and Intrauterine Death in Fetal Intestinal Atresia. 38
30870842 2019
11
LncRNA-MEG3 protects against ganglion cell dysplasia in congenital intestinal atresia through directly regulating miR-211-5p/GDNF axis. 38
30594782 2019
12
Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung's disease: outcome of a rare phenotype. 38
30798270 2019
13
Impact of disease-specific volume and hospital transfer on outcomes in gastroschisis. 38
30343976 2019
14
Closing gastroschisis: The good, the bad, and the not-so ugly. 38
30482541 2019
15
The intestinal fatty acid-binding protein as a marker for intestinal damage in gastroschisis. 38
30640955 2019
16
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6. 38
31275908 2019
17
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. 38
30386906 2019
18
Hemorrhage from Umbilical Cord Ulceration Identified on Real-Time Ultrasound in a Fetus with Duodenal Atresia. 38
30906606 2019
19
Impact of maternal education on the outcome of newborns requiring surgery for congenital malformations. 38
30958858 2019
20
Complications of newborn enterostomies. 38
30613668 2018
21
Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone. 38
28977809 2018
22
Intestinal IMINO transporter SIT1 is not expressed in human newborns. 38
30160974 2018
23
Maternal antihypertensive medication use and selected birth defects in the National Birth Defects Prevention Study. 38
30260586 2018
24
Maternal genitourinary infections and risk of birth defects in the National Birth Defects Prevention Study. 38
30402975 2018
25
Complex gastroschisis: Clinical spectrum and neonatal outcomes at a referral center. 38
29628208 2018
26
Cluster analysis describes constellations of cardiac anomalies presenting in spinal anomaly patients. 38
29956035 2018
27
Dual intestinal anomalies in dizygotic twins. 38
30077982 2018
28
Characterization and origin of heme precursors in amniotic fluid: lessons from normal and pathological pregnancies. 38
29795201 2018
29
Outcomes in patients with short bowel syndrome after autologous intestinal reconstruction: Does etiology matter? 38
29628209 2018
30
Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature. 38
29879038 2018
31
TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review. 38
29921470 2018
32
Intestinal atresia in suckler calves. 38
29907720 2018
33
Retrospective study of umbilical cord ulceration related to congenital intestinal atresia: A single-center report. 38
29516584 2018
34
Evaluation of the fetal abdomen by magnetic resonance imaging. Part 2: abdominal wall defects and tumors. 38
29991841 2018
35
[Experience in treatment of complex congenital intestinal atresia in children]. 38
30226325 2018
36
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. 38
29288792 2018
37
Risk factors and short outcome of bowel atresia in neonates at Tertiary Hospital. 38
31290475 2018
38
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. 38
29174094 2018
39
Presentation and outcome of treatment of jejunoileal atresia in Nigeria. 38
31290469 2018
40
[Retrospective analysis of morbidity and mortality of intestinal atresias in newborns]. 38
29978960 2018
41
Clinical factors associated with in-hospital death in pediatric surgical patients admitted to the neonatal intensive care unit: a 15-year single tertiary center experience. 38
28774507 2018
42
Sir Denis Browne, the father of modern pediatric surgery. 38
29169774 2018
43
Anastomotic ulcers in short bowel syndrome: New suggestions from a multidisciplinary approach. 38
28610705 2018
44
Pediatric Intestinal Rehabilitation and Transplantation Registry: Initial Report from a European Collaborative Registry. 38
28838002 2018
45
Consecutive siblings, each with two separate small bowel atresias. 38
29437734 2018
46
Functional assessment of the patients with perineal and vestibular fistula treated by anterior sagittal anorectoplasty. 38
30829307 2018
47
BOWEL RESECTION IN CHILDREN IN IBADAN, NIGERIA. 38
30899704 2018
48
High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure. 38
29505141 2018
49
Understanding the relationship between hospital volume and patient outcomes for infants with gastroschisis. 38
28947327 2017
50
Thyroid Medication Use and Birth Defects in the National Birth Defects Prevention Study. 38
28758357 2017

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 9.17 PLAGL1 PITX2 PDX1 PAX6 GCK FOXC1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 TEF PITX2 PDX1 PAX6 FOXC1
2 multicellular organism development GO:0007275 9.88 PITX2 PDX1 PAX6 FOXC1 CENPF
3 cell differentiation GO:0030154 9.85 PDX1 PAX6 FOXC1 CENPF
4 regulation of transcription by RNA polymerase II GO:0006357 9.8 TEF PLAGL1 PITX2 PDX1 PAX6 FOXC1
5 glucose homeostasis GO:0042593 9.63 PDX1 PAX6 GCK
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 TEF PLAGL1 PITX2 PDX1 PAX6 FOXC1
7 glucose metabolic process GO:0006006 9.54 PDX1 GCK
8 blood vessel development GO:0001568 9.52 PAX6 FOXC1
9 eye development GO:0001654 9.49 PAX6 FOXC1
10 iris morphogenesis GO:0061072 9.43 PITX2 PAX6
11 camera-type eye development GO:0043010 9.43 PITX2 PAX6 FOXC1
12 type B pancreatic cell differentiation GO:0003309 9.4 PDX1 PAX6
13 lacrimal gland development GO:0032808 9.37 PAX6 FOXC1
14 detection of glucose GO:0051594 8.96 PDX1 GCK
15 transcription by RNA polymerase II GO:0006366 8.62 PDX1 PAX6

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.85 TEF PLAGL1 PITX2 PDX1 PAX6 FOXC1
2 DNA-binding transcription factor activity GO:0003700 9.65 TEF PITX2 PDX1 PAX6 FOXC1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 TEF PLAGL1 PITX2 PDX1 PAX6 FOXC1
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.58 TEF PLAGL1 FOXC1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 PLAGL1 PAX6 FOXC1
6 transcription factor binding GO:0008134 9.26 PITX2 PAX6 FOXC1 CENPF
7 sequence-specific DNA binding GO:0043565 9.02 TEF PITX2 PDX1 PAX6 FOXC1

Sources for Intestinal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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