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 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, smooth muscle and skin, and related phenotypes are growth/size/body region and cardiovascular system

Wikipedia : 76 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 84)
# Related Disease Score Top Affiliating Genes
1 gastrointestinal defects and immunodeficiency syndrome 33.3 TEF TTC7A
2 neonatal diabetes mellitus 29.5 GCK PDX1 PLAGL1
3 peters-plus syndrome 29.1 FOXC1 PAX6 PITX2
4 umbilical cord ulceration and intestinal atresia 12.6
5 jejunal atresia 12.0
6 martinez-frias syndrome 11.9
7 stromme syndrome 11.8
8 mitchell-riley syndrome 11.8
9 atresia of small intestine 11.7
10 gastroschisis 11.4
11 short bowel syndrome 11.4
12 duodenal atresia 11.3
13 colonic atresia 11.0
14 chromosome 15q24 deletion syndrome 11.0
15 paraomphalocele 11.0
16 intussusception 10.2
17 microcephaly 10.1
18 combined t cell and b cell immunodeficiency 10.1
19 maturity-onset diabetes of the young, type 4 10.1 GCK PDX1
20 maturity-onset diabetes of the young, type 2 10.1 GCK PDX1
21 maturity-onset diabetes of the young, type 3 10.1 GCK PDX1
22 pyloric atresia 10.1
23 pancreatic agenesis 10.1 GCK PDX1
24 renal cysts and diabetes syndrome 10.1 GCK PDX1
25 severe combined immunodeficiency 10.0
26 maturity-onset diabetes of the young, type 6 10.0 GCK PDX1
27 monogenic diabetes 10.0 GCK PDX1
28 axenfeld-rieger syndrome, type 2 10.0 FOXC1 PITX2
29 hydrophthalmos 10.0 FOXC1 PITX2
30 anterior segment dysgenesis 4 10.0 FOXC1 PITX2
31 enterocolitis 10.0
32 peritonitis 10.0
33 perinatal necrotizing enterocolitis 10.0
34 maturity-onset diabetes of the young, type 7 10.0 GCK PDX1
35 primary congenital glaucoma 9.9 FOXC1 PITX2
36 persistent hyperplastic primary vitreous 9.9 FOXC1 PITX2
37 isolated aniridia 9.9 FOXC1 PAX6
38 anus, imperforate 9.9
39 polymicrogyria, bilateral perisylvian, x-linked 9.9
40 meconium ileus 9.9
41 omphalocele 9.9
42 intestinal obstruction 9.9
43 intestinal volvulus 9.9
44 polyhydramnios 9.9
45 diabetes mellitus, permanent neonatal 9.9 GCK PDX1
46 anterior segment dysgenesis 1 9.9 PAX6 PITX2
47 maturity-onset diabetes of the young 9.8 GCK PAX6 PDX1
48 axenfeld-rieger syndrome, type 1 9.8 PAX6 PITX2
49 alagille syndrome 1 9.7
50 hemifacial hyperplasia 9.7

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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 CENPF FOXC1 GCK PAX6 PDX1 PITX2
2 cardiovascular system MP:0005385 10.05 CENPF FOXC1 PAX6 PITX2 PLAGL1 TEF
3 homeostasis/metabolism MP:0005376 9.98 FOXC1 GCK PAX6 PDX1 PITX2 TEF
4 endocrine/exocrine gland MP:0005379 9.95 FOXC1 GCK PAX6 PDX1 PITX2 TTC7A
5 mortality/aging MP:0010768 9.91 CENPF FOXC1 GCK PAX6 PDX1 PITX2
6 digestive/alimentary MP:0005381 9.89 FOXC1 PAX6 PDX1 PITX2 TTC7A
7 integument MP:0010771 9.8 FOXC1 PAX6 PDX1 PLAGL1 TTC7A
8 liver/biliary system MP:0005370 9.8 FOXC1 GCK PDX1 PITX2 TEF TTC7A
9 limbs/digits/tail MP:0005371 9.67 FOXC1 PITX2 PLAGL1 TTC7A
10 muscle MP:0005369 9.55 CENPF FOXC1 PAX6 PDX1 PITX2
11 pigmentation MP:0001186 9.26 FOXC1 PAX6 PITX2 TTC7A
12 renal/urinary system MP:0005367 9.02 FOXC1 GCK 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
Bilirubin Phase 2, Phase 3 635-65-4 5280352
4 Liver Extracts Phase 2, Phase 3
5 Hormone Antagonists Phase 1, Phase 2
6 Incretins Phase 1, Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
8 glucagon Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10 Gastrointestinal Agents Phase 1, Phase 2
11 Glucagon-Like Peptide 1 Phase 1, Phase 2
12 Micronutrients Not Applicable
13 Vitamins Not Applicable
14 Trace Elements Not Applicable
15 lysine Not Applicable
16 Pharmaceutical Solutions Not Applicable

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 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 29

Anatomical Context for Intestinal Atresia

MalaCards organs/tissues related to Intestinal Atresia:

41
Small Intestine, Smooth Muscle, Skin, Colon, Bone, T Cells, B Cells

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 246)
# Title Authors Year
1
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
2
Intestinal atresia in suckler calves. ( 29907720 )
2018
3
Primary versus secondary anastomosis in intestinal atresia. ( 29880397 )
2018
4
Retrospective study of umbilical cord ulceration related to congenital intestinal atresia: A single-center report. ( 29516584 )
2018
5
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. ( 30386906 )
2018
6
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
7
Pregnant woman with polyhydramnios and fetus with small intestinal atresia. ( 28925193 )
2017
8
Intestinal atresia following chemotherapy, presenting as superior mesenteric artery syndrome: A case report. ( 28855988 )
2017
9
Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone. ( 28977809 )
2017
10
Apple-Peel Intestinal Atresia Along with Isolated Jejunal Duplication Cyst in a Newborn - An Extremely Rare Case Report and Brief Review. ( 28764258 )
2017
11
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
12
Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda. ( 28677072 )
2017
13
Impact of hospital transfer on surgical outcomes of intestinal atresia. ( 27890332 )
2016
14
Intestinal Atresia: Experience at a Busy Center of North-West India. ( 27896159 )
2016
15
Alagille syndrome associated with intestinal atresia. ( 26596367 )
2016
16
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. ( 27123398 )
2016
17
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. ( 27023781 )
2016
18
MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor. ( 26510977 )
2015
19
Histomorphological Features of Intestinal Atresia and its Clinical Correlation. ( 26674207 )
2015
20
Multiple intestinal atresia with combined immune deficiency. ( 25268403 )
2014
21
Ascites, anemia and (intestinal) atresia. ( 24374868 )
2014
22
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. ( 24931897 )
2014
23
Population-based study of esophageal and small intestinal atresia/stenosis. ( 24730728 )
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
Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation. ( 24096803 )
2013
27
Prenatal intestinal obstruction affects the myenteric plexus and causes functional bowel impairment in fetal rat experimental model of intestinal atresia. ( 23667464 )
2013
28
The use of multiple serial transverse enteroplasty (STEP) procedures for the management of intestinal atresia and short bowel syndrome. ( 23896253 )
2013
29
The clinical significance of pathological studies of congenital intestinal atresia. ( 24094962 )
2013
30
Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient. ( 23790793 )
2013
31
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors. ( 23444056 )
2013
32
Meconium peritonitis with intestinal atresia mimicking huge tumor in a preterm neonate. ( 23026488 )
2013
33
Intestinal atresia occurring in association with placental fetal thrombotic vasculopathy: a case report with literature review. ( 22989172 )
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
Outcomes of early versus late intestinal operations in patients with gastroschisis and intestinal atresia: results from a prospective national database. ( 24094951 )
2013
37
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. ( 23423984 )
2013
38
Long-term outcomes for infants with intestinal atresia studied at Children's National Medical Center. ( 23666458 )
2013
39
Apple-peel intestinal atresia: enteroplasty for intestinal lengthening and primary anastomosis. ( 23845656 )
2013
40
Gastroschisis associated with an omphalocele and intestinal atresia. ( 23917330 )
2013
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
Epidemiology of small intestinal atresia in Europe: a register-based study. ( 22933095 )
2012
43
Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment. ( 22325384 )
2012
44
Laparoscopy-assisted surgery for neonatal intestinal atresia and stenosis: a report of 35 cases. ( 23143134 )
2012
45
Multiple intestinal anastomoses to avoid short bowel syndrome and stimulate bowel maturity in type IV multiple intestinal atresia and necrotizing enterocolitis. ( 22424368 )
2012
46
Pre-natal Ultrasonographic Diagnosis of Cystic Meconium Peritonitis with Intestinal Atresia and Its Post-natal Management. ( 24293871 )
2012
47
Concordant intestinal atresia in two pairs of monozygotic twins. ( 23705091 )
2011
48
Intestinal atresia and ectopia in a bovine fetus. ( 20926733 )
2011
49
Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis. ( 20820789 )
2011
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

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 nucleus GO:0005634 9.56 CENPF FOXC1 GCK PAX6 PDX1 PITX2
2 nucleoplasm GO:0005654 9.17 CENPF FOXC1 GCK PAX6 PDX1 PITX2

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 FOXC1 PAX6 PDX1 PITX2 TEF
2 multicellular organism development GO:0007275 9.88 CENPF FOXC1 PAX6 PDX1 PITX2
3 cell differentiation GO:0030154 9.85 CENPF FOXC1 PAX6 PDX1
4 regulation of transcription by RNA polymerase II GO:0006357 9.73 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
5 glucose homeostasis GO:0042593 9.63 GCK PAX6 PDX1
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
7 glucose metabolic process GO:0006006 9.54 GCK PDX1
8 blood vessel development GO:0001568 9.52 FOXC1 PAX6
9 camera-type eye development GO:0043010 9.5 FOXC1 PAX6 PITX2
10 eye development GO:0001654 9.49 FOXC1 PAX6
11 iris morphogenesis GO:0061072 9.43 PAX6 PITX2
12 lacrimal gland development GO:0032808 9.4 FOXC1 PAX6
13 type B pancreatic cell differentiation GO:0003309 9.37 PAX6 PDX1
14 transcription by RNA polymerase II GO:0006366 9.1 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
15 detection of glucose GO:0051594 8.96 GCK 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 9.63 CENPF PAX6 PDX1
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.61 PAX6 PITX2 TEF
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.58 FOXC1 PLAGL1 TEF
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 FOXC1 PAX6 PLAGL1
7 transcription factor binding GO:0008134 9.46 CENPF FOXC1 PAX6 PITX2
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 FOXC1 PAX6 PDX1 PITX2 PLAGL1 TEF
9 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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