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 Omega 3 Fatty Acid and Fat Emulsions, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include small intestine, skin and colon, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 77 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 80)
# Related Disease Score Top Affiliating Genes
1 gastrointestinal defects and immunodeficiency syndrome 33.4 TEF TTC7A
2 neonatal diabetes mellitus 29.4 PDX1 PLAGL1
3 peters-plus syndrome 28.9 FOXC1 PAX6 PITX2
4 umbilical cord ulceration and intestinal atresia 12.6
5 jejunal atresia 12.2
6 stromme syndrome 12.1
7 mitchell-riley syndrome 12.0
8 martinez-frias syndrome 12.0
9 gastroschisis 11.4
10 atresia of small intestine 11.4
11 short bowel syndrome 11.4
12 duodenal atresia 11.4
13 colonic atresia 11.1
14 chromosome 15q24 deletion syndrome 11.1
15 paraomphalocele 11.1
16 abdominal wall defect 10.4
17 intussusception 10.3
18 combined t cell and b cell immunodeficiency 10.1
19 microcephaly 10.1
20 pyloric atresia 10.1
21 severe combined immunodeficiency 10.1
22 enterocolitis 10.0
23 peritonitis 10.0
24 perinatal necrotizing enterocolitis 10.0
25 axenfeld-rieger syndrome, type 2 10.0 FOXC1 PITX2
26 hydrophthalmos 10.0 FOXC1 PITX2
27 anterior segment dysgenesis 4 9.9 FOXC1 PITX2
28 pituitary adenoma 1, multiple types 9.9
29 anus, imperforate 9.9
30 meconium ileus 9.9
31 omphalocele 9.9
32 intestinal obstruction 9.9
33 intestinal volvulus 9.9
34 polyhydramnios 9.9
35 congenital amyoplasia 9.9
36 isolated aniridia 9.9 FOXC1 PAX6
37 primary congenital glaucoma 9.9 FOXC1 PITX2
38 persistent hyperplastic primary vitreous 9.8 FOXC1 PITX2
39 alagille syndrome 1 9.8
40 meckel diverticulum 9.8
41 feingold syndrome 1 9.8
42 hemochromatosis, neonatal 9.8
43 hemochromatosis, type 1 9.8
44 netherton syndrome 9.8
45 choanal atresia, posterior 9.8
46 frias syndrome 9.8
47 graft-versus-host disease 9.8
48 pulmonary hypertension 9.8
49 diabetes mellitus 9.8
50 glomerulonephritis 9.8

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:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 CENPF FABP2 FOXC1 PAX6 PDX1 PITX2
2 cardiovascular system MP:0005385 10.04 CENPF FOXC1 PAX6 PITX2 PLAGL1 TEF
3 homeostasis/metabolism MP:0005376 9.98 FABP2 FOXC1 PAX6 PDX1 PITX2 TEF
4 digestive/alimentary MP:0005381 9.88 FOXC1 PAX6 PDX1 PITX2 TTC7A
5 mortality/aging MP:0010768 9.86 CENPF FOXC1 PAX6 PDX1 PITX2 PLAGL1
6 integument MP:0010771 9.8 FOXC1 PAX6 PDX1 PLAGL1 TTC7A
7 liver/biliary system MP:0005370 9.8 FABP2 FOXC1 PDX1 PITX2 TEF TTC7A
8 limbs/digits/tail MP:0005371 9.67 FOXC1 PITX2 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 9.02 FABP2 FOXC1 PAX6 PDX1 TTC7A

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 Omega 3 Fatty Acid Phase 2, Phase 3
2 Fat Emulsions, Intravenous Phase 2, Phase 3
3 Liver Extracts Phase 2, Phase 3
4
Bilirubin Phase 2, Phase 3 635-65-4, 69853-43-6 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 Incretins Phase 1, Phase 2
9 Glucagon-Like Peptide 1 Phase 1, Phase 2
10 Gastrointestinal Agents Phase 1, Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
12 lysine Not Applicable
13 Micronutrients Not Applicable
14 Vitamins Not Applicable
15 Pharmaceutical Solutions Not Applicable
16 Trace Elements Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compassionate Use of Omegaven in Children Active, not 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 Not Applicable
4 Stapled Anastomosis Versus Hand-sewn for Neonate With Intestinal Atresia Recruiting NCT03754907 Not Applicable
5 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
6 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815 Not Applicable

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 30

Anatomical Context for Intestinal Atresia

MalaCards organs/tissues related to Intestinal Atresia:

42
Small Intestine, Skin, Colon, Liver, Smooth Muscle, Pancreas, Eye

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 249)
# Title Authors Year
1
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. ( 30386906 )
2019
2
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. ( 31111652 )
2019
3
Umbilical Cord Ulcer and Intrauterine Death in Fetal Intestinal Atresia. ( 30870842 )
2019
4
Primary versus secondary anastomosis in intestinal atresia. ( 29880397 )
2019
5
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. ( 30316734 )
2018
6
Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone. ( 28977809 )
2018
7
LncRNA-MEG3 protects against ganglion cell dysplasia in congenital intestinal atresia through directly regulating miR-211-5p/GDNF axis. ( 30594782 )
2018
8
Intestinal atresia in suckler calves. ( 29907720 )
2018
9
Retrospective study of umbilical cord ulceration related to congenital intestinal atresia: A single-center report. ( 29516584 )
2018
10
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. ( 29921470 )
2018
11
Pregnant woman with polyhydramnios and fetus with small intestinal atresia. ( 28925193 )
2017
12
Intestinal atresia following chemotherapy, presenting as superior mesenteric artery syndrome: A case report. ( 28855988 )
2017
13
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
14
Apple-Peel Intestinal Atresia Along with Isolated Jejunal Duplication Cyst in a Newborn - An Extremely Rare Case Report and Brief Review. ( 28764258 )
2017
15
Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda. ( 28677072 )
2017
16
Impact of hospital transfer on surgical outcomes of intestinal atresia. ( 27890332 )
2017
17
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. ( 27023781 )
2017
18
Intestinal Atresia: Experience at a Busy Center of North-West India. ( 27896159 )
2016
19
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. ( 27123398 )
2016
20
Alagille syndrome associated with intestinal atresia. ( 26596367 )
2016
21
MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor. ( 26510977 )
2016
22
Histomorphological Features of Intestinal Atresia and its Clinical Correlation. ( 26674207 )
2015
23
Gastroschisis associated with an omphalocele and intestinal atresia. ( 23917330 )
2014
24
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. ( 25546680 )
2014
25
Prolonged feeding difficulties after surgical correction of intestinal atresia: a 13-year experience. ( 25475800 )
2014
26
Multiple intestinal atresia with combined immune deficiency. ( 25268403 )
2014
27
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. ( 24931897 )
2014
28
Population-based study of esophageal and small intestinal atresia/stenosis. ( 24730728 )
2014
29
Ascites, anemia and (intestinal) atresia. ( 24374868 )
2014
30
Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation. ( 24096803 )
2014
31
Outcomes of early versus late intestinal operations in patients with gastroschisis and intestinal atresia: results from a prospective national database. ( 24094951 )
2013
32
Intestinal atresia occurring in association with placental fetal thrombotic vasculopathy: a case report with literature review. ( 22989172 )
2013
33
Meconium peritonitis with intestinal atresia mimicking huge tumor in a preterm neonate. ( 23026488 )
2013
34
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. ( 23423984 )
2013
35
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors. ( 23444056 )
2013
36
What is Our Development Progress for the Treatment Outcome of Newborn with Intestinal Atresia and Stenosis in a Period of 28 Years? ( 23641378 )
2013
37
Long-term outcomes for infants with intestinal atresia studied at Children's National Medical Center. ( 23666458 )
2013
38
Prenatal intestinal obstruction affects the myenteric plexus and causes functional bowel impairment in fetal rat experimental model of intestinal atresia. ( 23667464 )
2013
39
Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient. ( 23790793 )
2013
40
Apple-peel intestinal atresia: enteroplasty for intestinal lengthening and primary anastomosis. ( 23845656 )
2013
41
The use of multiple serial transverse enteroplasty (STEP) procedures for the management of intestinal atresia and short bowel syndrome. ( 23896253 )
2013
42
Brown bowel syndrome: a rare and often overlooked complication of intestinal atresia. ( 24404548 )
2013
43
The clinical significance of pathological studies of congenital intestinal atresia. ( 24094962 )
2013
44
Multiple intestinal anastomoses to avoid short bowel syndrome and stimulate bowel maturity in type IV multiple intestinal atresia and necrotizing enterocolitis. ( 22424368 )
2012
45
Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment. ( 22325384 )
2012
46
Epidemiology of small intestinal atresia in Europe: a register-based study. ( 22933095 )
2012
47
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin. ( 23084212 )
2012
48
Laparoscopy-assisted surgery for neonatal intestinal atresia and stenosis: a report of 35 cases. ( 23143134 )
2012
49
Pre-natal Ultrasonographic Diagnosis of Cystic Meconium Peritonitis with Intestinal Atresia and Its Post-natal Management. ( 24293871 )
2012
50
Medical management of motility disorders in patients with intestinal failure: a focus on necrotizing enterocolitis, gastroschisis, and intestinal atresia. ( 21843732 )
2011

Variations for Intestinal Atresia

Expression for Intestinal Atresia

Search GEO for disease gene expression data for Intestinal Atresia.

Pathways for Intestinal Atresia

Pathways related to Intestinal Atresia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 FOXC1 PAX6 PITX2
2 10.29 FOXC1 PITX2

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 PAX6 PDX1 PITX2 PLAGL1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.88 FOXC1 PAX6 PDX1 PITX2 TEF
2 multicellular organism development GO:0007275 9.83 CENPF FOXC1 PAX6 PDX1 PITX2
3 cell differentiation GO:0030154 9.81 CENPF FOXC1 PAX6 PDX1
4 regulation of transcription by RNA polymerase II GO:0006357 9.63 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
5 blood vessel development GO:0001568 9.49 FOXC1 PAX6
6 eye development GO:0001654 9.46 FOXC1 PAX6
7 camera-type eye development GO:0043010 9.43 FOXC1 PAX6 PITX2
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
9 iris morphogenesis GO:0061072 9.4 PAX6 PITX2
10 lacrimal gland development GO:0032808 9.37 FOXC1 PAX6
11 type B pancreatic cell differentiation GO:0003309 9.32 PAX6 PDX1
12 transcription by RNA polymerase II GO:0006366 8.62 PAX6 PDX1

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 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
2 DNA-binding transcription factor activity GO:0003700 9.65 FOXC1 PAX6 PDX1 PITX2 TEF
3 chromatin binding GO:0003682 9.61 CENPF PAX6 PDX1
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.58 FOXC1 PLAGL1 TEF
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 FOXC1 PAX6 PLAGL1
6 transcription factor binding GO:0008134 9.46 CENPF FOXC1 PAX6 PITX2
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
8 sequence-specific DNA binding GO:0043565 9.02 FOXC1 PAX6 PDX1 PITX2 TEF

Sources for Intestinal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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