MCID: INT060
MIFTS: 40

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 duodenal atresia. An important gene associated with Intestinal Atresia is TTC7A (Tetratricopeptide Repeat Domain 7A), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 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 cardiovascular system and digestive/alimentary

Wikipedia : 74 Intestinal atresia is any congenital malformation of the structure of the intestine that causes bowel... 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 153)
# Related Disease Score Top Affiliating Genes
1 gastrointestinal defects and immunodeficiency syndrome 33.8 TTC7A MTHFSD
2 duodenal atresia 31.4 TEF RFX6 MTHFSD FOXF1 FGF10
3 neonatal diabetes mellitus 29.8 RFX6 PLAGL1 PDX1 GCK
4 pancreas, annular 29.6 TEF RFX6 MTHFSD FOXF1
5 anus, imperforate 29.6 TEF MTHFSD FOXF1
6 feingold syndrome 1 29.3 TEF MTHFSD FOXF1
7 diaphragmatic hernia, congenital 29.0 TEF OR10AD1 FOXF1 FGF10
8 umbilical cord ulceration and intestinal atresia 12.8
9 jejunal atresia 12.3
10 stromme syndrome 12.3
11 mitchell-riley syndrome 12.2
12 martinez-frias syndrome 12.1
13 atresia of small intestine 11.9
14 gastroschisis 11.6
15 abdominal wall defect 11.6
16 colonic atresia 11.5
17 short bowel syndrome 11.5
18 chromosome 15q24 deletion syndrome 11.2
19 paraomphalocele 11.2
20 intestinal obstruction 10.5
21 maturity-onset diabetes of the young, type 14 10.4 PDX1 GCK
22 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 PDX1 GCK
23 maturity-onset diabetes of the young, type 13 10.4 PDX1 GCK
24 maturity-onset diabetes of the young, type 7 10.4 PDX1 GCK
25 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
26 isolated aniridia 10.4 PAX6 FOXC1
27 maturity-onset diabetes of the young, type 9 10.4 PDX1 GCK
28 peritonitis 10.3
29 intussusception 10.3
30 maturity-onset diabetes of the young, type 6 10.3 PDX1 GCK
31 otopalatodigital syndrome, type ii 10.3 PITX2 FOXC1
32 hyperinsulinemic hypoglycemia, familial, 7 10.3 RFX6 GCK
33 enterocolitis 10.3
34 ileus 10.3
35 maturity-onset diabetes of the young, type 4 10.3 PDX1 GCK
36 diarrhea 4, malabsorptive, congenital 10.3 TTC7A RFX6
37 volvulus of midgut 10.3
38 immune deficiency disease 10.3
39 hydrophthalmos 10.2 PITX2 PAX6 FOXC1
40 axenfeld-rieger syndrome, type 1 10.2 PITX2 PAX6 FOXC1
41 axenfeld-rieger syndrome 10.2 PITX2 PAX6 FOXC1
42 maturity-onset diabetes of the young, type 2 10.2 PDX1 GCK
43 microcephaly 10.2
44 perinatal necrotizing enterocolitis 10.2
45 juvenile glaucoma 10.2 PITX2 PAX6 FOXC1
46 diabetes mellitus, permanent neonatal 4 10.2 RFX6 PDX1 GCK
47 gillespie syndrome 10.2 PITX2 PAX6 FOXC1
48 axenfeld-rieger syndrome, type 3 10.2 PITX2 PAX6 FOXC1
49 iris disease 10.2 PITX2 PAX6 FOXC1
50 pancreatic agenesis 10.2 RFX6 PDX1 GCK

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 CENPF FGF10 FOXC1 FOXF1 GCK PAX6
2 digestive/alimentary MP:0005381 9.86 FGF10 FOXC1 FOXF1 PAX6 PDX1 PITX2
3 liver/biliary system MP:0005370 9.7 FABP2 FOXC1 GCK PDX1 PITX2 TEF
4 muscle MP:0005369 9.5 CENPF FGF10 FOXC1 FOXF1 PAX6 PDX1
5 renal/urinary system MP:0005367 9.17 FABP2 FGF10 FOXC1 GCK PAX6 PDX1

Drugs & Therapeutics for Intestinal Atresia

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

(show all 13)
# 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 69853-43-6, 635-65-4 21252250 5280352
5
Glucagon Approved Phase 1, Phase 2 16941-32-5
6 Hormone Antagonists Phase 1, Phase 2
7 Hormones Phase 1, Phase 2
8 Glucagon-Like Peptide 1 Phase 1, Phase 2
9 Incretins Phase 1, Phase 2
10 Gastrointestinal Agents Phase 1, Phase 2
11 Immunoglobulins
12 Antibodies
13 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 Completed NCT02370251 Phase 2, Phase 3 Omegaven
2 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746 Phase 3
3 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
4 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
5 Comparing Stapled Anastomosis With Hand-sewn in Neonate With Intestinal Atresia Recruiting NCT03754907
6 The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. Recruiting NCT04020939 Indocyanine Green
7 In-Utero Vascular Accidents in Neonates From COVID-19 Infected Mothers Not yet recruiting NCT04431869
8 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815
9 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:

40
Small Intestine, Colon, Liver, Smooth Muscle, Pancreas, Appendix, Skin

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 774)
# Title Authors PMID Year
1
Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates. 61
32572600 2020
2
Abdominal Wall Defects. 61
32482700 2020
3
Sex differences in surgically correctable congenital anomalies: A systematic review. 61
32061363 2020
4
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review. 61
31953238 2020
5
A rare case of intrauterine intussusception causing ileal atresia. 61
32467551 2020
6
Mucins and Tight Junctions are Severely Altered in Necrotizing Enterocolitis Neonates. 61
32446259 2020
7
[Etiological diagnosis and clinical evaluation of isolated fetal ascites]. 61
32375431 2020
8
Defining the critical pediatric surgical workforce density for improving surgical outcomes: a global study. 61
31839371 2020
9
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. 61
31743734 2020
10
Congenital multiple colonic atresias with intestinal malrotation: a case report. 61
32232592 2020
11
Meconium peritonitis resulting from different etiologies in siblings: a case report. 61
32138710 2020
12
Growth from Birth to 30 months for Infants Born with Congenital Gastrointestinal Anomalies and Disorders. 61
32168528 2020
13
Supplementation of Mother's Own Milk with Donor Milk in Infants with Gastroschisis or Intestinal Atresia: A Retrospective Study. 61
32102333 2020
14
Is Tapering Enteroplasty an Alternative to Resection of Dilated Bowel in Small Intestinal Atresia? 61
31541708 2020
15
[Therapeutic effect of different surgical methods for congenital small intestine atresia]. 61
32146768 2020
16
Laparoscopy-Assisted Versus Open Surgery in Treating Intestinal Atresia: Single Center Experience. 61
31913765 2020
17
Educational Case: Intrauterine Fetal Demise and Intestinal Atresia: An Autopsy Investigation. 61
32232125 2020
18
Epithelial changes of congenital intestinal obstruction in a rat model. 61
32352981 2020
19
The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia. 61
32210824 2020
20
Using three-dimensional ultrasound in predicting complex gastroschisis: A longitudinal, prospective, multicenter cohort study. 61
31600419 2019
21
An Atypical Variant of Apple Peel Atresia: Reporting a Rare Case. 61
31819834 2019
22
Mucosal Monosaccharide Transporter Expression in Newborns With Jejunoileal Atresia and Along the Adult Intestine. 61
31261244 2019
23
Total Intestinal Atresia: Revisiting the Pathogenesis of Congenital Atresias. 61
31571767 2019
24
Management and outcomes of gastrointestinal congenital anomalies in low, middle and high income countries: protocol for a multicentre, international, prospective cohort study. 61
31481373 2019
25
Unexplained Case of Intrauterine Fetal Demise Resolved: Case Report and Literature Review. 61
31471348 2019
26
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. 61
30316734 2019
27
Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency. 61
31342292 2019
28
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. 61
31111652 2019
29
Abnormalities of the intestinal pacemaker cells, enteric neurons, and smooth muscle in intestinal atresia. 61
31579250 2019
30
[Therapeutic experience of type Ⅲ-b congenital intestinal atresia]. 61
31901021 2019
31
The outcome of Bishop-Koop procedure compared to divided stoma in neonates with meconium ileus, congenital intestinal atresia and necrotizing enterocolitis. 61
31277168 2019
32
Transumbilical minilaparotomy in low-birthweight newborns for complicated conditions. 61
30145106 2019
33
Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency. 61
31616743 2019
34
Neonatal Intestinal Anastomosis Using a 5 mm Laparoscopic Stapler. 61
30767703 2019
35
Primary versus secondary anastomosis in intestinal atresia. 61
29880397 2019
36
LncRNA-MEG3 protects against ganglion cell dysplasia in congenital intestinal atresia through directly regulating miR-211-5p/GDNF axis. 61
30594782 2019
37
Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung's disease: outcome of a rare phenotype. 61
30798270 2019
38
Prenatal Diagnosis of Umbilical Cord Ulcer: A Report of Two Cases. 61
31929926 2019
39
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency. 61
31787977 2019
40
Impact of disease-specific volume and hospital transfer on outcomes in gastroschisis. 61
30343976 2019
41
The intestinal fatty acid-binding protein as a marker for intestinal damage in gastroschisis. 61
30640955 2019
42
Closing gastroschisis: The good, the bad, and the not-so ugly. 61
30482541 2019
43
Hemorrhage from Umbilical Cord Ulceration Identified on Real-Time Ultrasound in a Fetus with Duodenal Atresia. 61
30906606 2019
44
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. 61
30386906 2019
45
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6. 61
31275908 2019
46
Umbilical Cord Ulcer and Intrauterine Death in Fetal Intestinal Atresia. 61
30870842 2019
47
Impact of maternal education on the outcome of newborns requiring surgery for congenital malformations. 61
30958858 2019
48
Complications of newborn enterostomies. 61
30613668 2018
49
Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone. 61
28977809 2018
50
Intestinal IMINO transporter SIT1 is not expressed in human newborns. 61
30160974 2018

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 nuclear chromatin GO:0000790 9.17 TEF RFX6 PITX2 PDX1 PAX6 FOXF1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.16 TEF RFX6 PITX2 PDX1 PAX6 FOXF1
2 cell differentiation GO:0030154 10.07 RFX6 PDX1 PAX6 FOXC1 FGF10 CENPF
3 regulation of transcription by RNA polymerase II GO:0006357 9.98 TEF RFX6 PLAGL1 PITX2 PDX1 PAX6
4 positive regulation of transcription, DNA-templated GO:0045893 9.95 RFX6 PDX1 PAX6 FOXF1 FOXC1 FGF10
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.81 TEF RFX6 PLAGL1 PITX2 PDX1 PAX6
6 animal organ morphogenesis GO:0009887 9.76 PDX1 PAX6 FOXF1 FGF10
7 determination of left/right symmetry GO:0007368 9.74 PITX2 FOXF1 FGF10
8 smoothened signaling pathway GO:0007224 9.71 PDX1 PAX6 FOXF1
9 camera-type eye development GO:0043010 9.7 PITX2 PAX6 FOXC1
10 blood vessel development GO:0001568 9.69 PAX6 FOXF1 FOXC1
11 endocrine pancreas development GO:0031018 9.62 RFX6 PDX1
12 lung morphogenesis GO:0060425 9.62 FOXF1 FGF10
13 glucose homeostasis GO:0042593 9.62 RFX6 PDX1 PAX6 GCK
14 embryonic digestive tract development GO:0048566 9.61 FOXF1 FGF10
15 embryonic digestive tract morphogenesis GO:0048557 9.6 FOXF1 FGF10
16 epithelial tube branching involved in lung morphogenesis GO:0060441 9.58 FOXF1 FGF10
17 smooth muscle cell differentiation GO:0051145 9.58 FOXF1 FGF10
18 salivary gland morphogenesis GO:0007435 9.56 PAX6 FGF10
19 iris morphogenesis GO:0061072 9.55 PITX2 PAX6
20 digestive tract development GO:0048565 9.54 PDX1 FOXF1 FGF10
21 positive regulation of core promoter binding GO:1904798 9.49 PAX6 FOXC1
22 pancreas development GO:0031016 9.43 PDX1 FOXF1 FGF10
23 detection of glucose GO:0051594 9.4 PDX1 GCK
24 lacrimal gland development GO:0032808 9.13 PAX6 FOXC1 FGF10
25 type B pancreatic cell differentiation GO:0003309 8.8 RFX6 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 10.06 TEF RFX6 PLAGL1 PITX2 PDX1 PAX6
2 sequence-specific DNA binding GO:0043565 9.85 TEF PITX2 PDX1 PAX6 FOXF1 FOXC1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 RFX6 PLAGL1 PAX6 FOXF1 FOXC1
4 transcription regulatory region DNA binding GO:0044212 9.73 RFX6 PAX6 FOXF1 FOXC1
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.72 TEF RFX6 PLAGL1 FOXF1 FOXC1
6 transcription factor binding GO:0008134 9.65 PITX2 PDX1 PAX6 FOXC1 CENPF
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 RFX6 PLAGL1 PITX2 PDX1 PAX6 FOXF1
8 DNA-binding transcription factor activity GO:0003700 9.5 TEF RFX6 PITX2 PDX1 PAX6 FOXF1
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 TEF RFX6 PITX2 PDX1 PAX6 FOXF1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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