MCID: INT060
MIFTS: 43

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 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 82)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 28.9 GCK PDX1 PLAGL1
2 peters-plus syndrome 27.9 FOXC1 PAX6 PITX2
3 umbilical cord ulceration and intestinal atresia 12.4
4 gastrointestinal defects and immunodeficiency syndrome 12.0
5 martinez-frias syndrome 11.8
6 jejunal atresia 11.8
7 stromme syndrome 11.6
8 mitchell-riley syndrome 11.6
9 atresia of small intestine 11.6
10 gastroschisis 11.3
11 short bowel syndrome 11.2
12 duodenal atresia 11.2
13 colonic atresia 10.9
14 chromosome 15q24 deletion syndrome 10.9
15 paraomphalocele 10.9
16 intussusception 10.1
17 monogenic diabetes 10.1 GCK PDX1
18 combined immunodeficiency, x-linked 10.0
19 pancreatic agenesis 10.0 GCK PDX1
20 microcephaly 10.0
21 axenfeld-rieger syndrome, type 3 9.9 FOXC1 PITX2
22 hydrophthalmos 9.9 FOXC1 PITX2
23 severe combined immunodeficiency 9.9
24 axenfeld-rieger syndrome, type 2 9.9 FOXC1 PITX2
25 anterior segment dysgenesis 4 9.9 FOXC1 PITX2
26 intraocular pressure quantitative trait locus 9.9 FOXC1 PITX2
27 peritonitis 9.9
28 cornea plana 9.8 FOXC1 PITX2
29 diabetes mellitus, permanent neonatal 9.8 GCK PDX1
30 anus, imperforate 9.8
31 enterocolitis 9.8
32 pyloric atresia 9.8
33 polymicrogyria, bilateral perisylvian, x-linked 9.8
34 meconium ileus 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 primary congenital glaucoma 9.7 FOXC1 PITX2
44 isolated aniridia 9.7 FOXC1 PAX6
45 alagille syndrome 1 9.6
46 hemifacial hyperplasia 9.6
47 feingold syndrome 1 9.6
48 hemochromatosis, neonatal 9.6
49 netherton syndrome 9.6
50 choanal atresia, posterior 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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 TTC7A CENPF PDX1 FOXC1 PITX2 GCK
2 cardiovascular system MP:0005385 9.99 TTC7A PAX6 CENPF FOXC1 PITX2 PLAGL1
3 cellular MP:0005384 9.97 PLAGL1 PAX6 CENPF PDX1 FOXC1 PITX2
4 endocrine/exocrine gland MP:0005379 9.93 TTC7A PDX1 FOXC1 PITX2 GCK PAX6
5 digestive/alimentary MP:0005381 9.88 TTC7A PAX6 PDX1 FOXC1 PITX2
6 mortality/aging MP:0010768 9.86 TTC7A CENPF PDX1 FOXC1 PITX2 GCK
7 integument MP:0010771 9.8 TTC7A PLAGL1 PAX6 PDX1 FOXC1
8 liver/biliary system MP:0005370 9.72 TTC7A PDX1 FOXC1 PITX2 GCK
9 limbs/digits/tail MP:0005371 9.67 TTC7A PLAGL1 FOXC1 PITX2
10 muscle MP:0005369 9.55 PAX6 CENPF PDX1 FOXC1 PITX2
11 pigmentation MP:0001186 9.26 TTC7A FOXC1 PITX2 PAX6
12 renal/urinary system MP:0005367 9.02 TTC7A PAX6 PDX1 FOXC1 GCK

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 Not Applicable
13 Pharmaceutical Solutions Not Applicable
14 Trace Elements Not Applicable
15 Vitamins Not Applicable
16 lysine Nutraceutical 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 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, Liver, Smooth Muscle, Pancreas, Colon, Brain, Testes

Publications for Intestinal Atresia

Articles related to Intestinal Atresia:

(show top 50) (show all 251)
# 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
Pregnant woman with polyhydramnios and fetus with small intestinal atresia. ( 28925193 )
2017
6
Intestinal atresia following chemotherapy, presenting as superior mesenteric artery syndrome: A case report. ( 28855988 )
2017
7
Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone. ( 28977809 )
2017
8
Apple-Peel Intestinal Atresia Along with Isolated Jejunal Duplication Cyst in a Newborn - An Extremely Rare Case Report and Brief Review. ( 28764258 )
2017
9
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
10
Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda. ( 28677072 )
2017
11
Impact of hospital transfer on surgical outcomes of intestinal atresia. ( 27890332 )
2016
12
Intestinal Atresia: Experience at a Busy Center of North-West India. ( 27896159 )
2016
13
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. ( 27023781 )
2016
14
Alagille syndrome associated with intestinal atresia. ( 26596367 )
2016
15
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. ( 27123398 )
2016
16
MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor. ( 26510977 )
2015
17
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
18
Histomorphological Features of Intestinal Atresia and its Clinical Correlation. ( 26674207 )
2015
19
Multiple intestinal atresia with combined immune deficiency. ( 25268403 )
2014
20
Ascites, anemia and (intestinal) atresia. ( 24374868 )
2014
21
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
22
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. ( 24931897 )
2014
23
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. ( 25534311 )
2014
24
Population-based study of esophageal and small intestinal atresia/stenosis. ( 24730728 )
2014
25
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. ( 25546680 )
2014
26
Prolonged feeding difficulties after surgical correction of intestinal atresia: a 13-year experience. ( 25475800 )
2014
27
Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation. ( 24096803 )
2013
28
Prenatal intestinal obstruction affects the myenteric plexus and causes functional bowel impairment in fetal rat experimental model of intestinal atresia. ( 23667464 )
2013
29
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. ( 23830146 )
2013
30
The use of multiple serial transverse enteroplasty (STEP) procedures for the management of intestinal atresia and short bowel syndrome. ( 23896253 )
2013
31
The clinical significance of pathological studies of congenital intestinal atresia. ( 24094962 )
2013
32
Associated type IIIB and type IV multiple intestinal atresia in a pediatric patient. ( 23790793 )
2013
33
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors. ( 23444056 )
2013
34
Gastroschisis associated with an omphalocele and intestinal atresia. ( 23917330 )
2013
35
Meconium peritonitis with intestinal atresia mimicking huge tumor in a preterm neonate. ( 23026488 )
2013
36
Intestinal atresia occurring in association with placental fetal thrombotic vasculopathy: a case report with literature review. ( 22989172 )
2013
37
What is Our Development Progress for the Treatment Outcome of Newborn with Intestinal Atresia and Stenosis in a Period of 28 Years? ( 23641378 )
2013
38
Brown bowel syndrome: a rare and often overlooked complication of intestinal atresia. ( 24404548 )
2013
39
Apple-peel intestinal atresia: enteroplasty for intestinal lengthening and primary anastomosis. ( 23845656 )
2013
40
Outcomes of early versus late intestinal operations in patients with gastroschisis and intestinal atresia: results from a prospective national database. ( 24094951 )
2013
41
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. ( 23423984 )
2013
42
Long-term outcomes for infants with intestinal atresia studied at Children's National Medical Center. ( 23666458 )
2013
43
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin. ( 23084212 )
2012
44
Epidemiology of small intestinal atresia in Europe: a register-based study. ( 22933095 )
2012
45
Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment. ( 22325384 )
2012
46
Laparoscopy-assisted surgery for neonatal intestinal atresia and stenosis: a report of 35 cases. ( 23143134 )
2012
47
Multiple intestinal anastomoses to avoid short bowel syndrome and stimulate bowel maturity in type IV multiple intestinal atresia and necrotizing enterocolitis. ( 22424368 )
2012
48
Pre-natal Ultrasonographic Diagnosis of Cystic Meconium Peritonitis with Intestinal Atresia and Its Post-natal Management. ( 24293871 )
2012
49
Concordant intestinal atresia in two pairs of monozygotic twins. ( 23705091 )
2011
50
Intestinal atresia and ectopia in a bovine fetus. ( 20926733 )
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 9.17 CENPF FOXC1 GCK PAX6 PDX1 PITX2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.91 FOXC1 PAX6 PDX1 PITX2 PLAGL1
2 multicellular organism development GO:0007275 9.89 CENPF FOXC1 PAX6 PDX1 PITX2
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.88 FOXC1 PAX6 PDX1 PITX2 PLAGL1
4 positive regulation of transcription, DNA-templated GO:0045893 9.83 FOXC1 PAX6 PDX1 PITX2
5 cell differentiation GO:0030154 9.83 CENPF FOXC1 PAX6 PDX1 PLAGL1
6 brain development GO:0007420 9.73 FOXC1 PAX6 PITX2
7 animal organ morphogenesis GO:0009887 9.63 PAX6 PDX1 PITX2
8 glucose metabolic process GO:0006006 9.59 GCK PDX1
9 odontogenesis of dentin-containing tooth GO:0042475 9.58 FOXC1 PITX2
10 blood vessel development GO:0001568 9.58 FOXC1 PAX6
11 glucose homeostasis GO:0042593 9.58 GCK PAX6 PDX1
12 eye development GO:0001654 9.57 FOXC1 PAX6
13 pituitary gland development GO:0021983 9.55 PAX6 PITX2
14 positive regulation of DNA binding GO:0043388 9.54 FOXC1 PITX2
15 iris morphogenesis GO:0061072 9.37 PAX6 PITX2
16 transcription by RNA polymerase II GO:0006366 9.35 FOXC1 PAX6 PDX1 PITX2 PLAGL1
17 camera-type eye development GO:0043010 9.33 FOXC1 PAX6 PITX2
18 type B pancreatic cell differentiation GO:0003309 9.32 PAX6 PDX1
19 lacrimal gland development GO:0032808 9.26 FOXC1 PAX6
20 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 GO:0003677 9.8 FOXC1 PAX6 PDX1 PITX2 PLAGL1
2 DNA binding transcription factor activity GO:0003700 9.73 FOXC1 PAX6 PDX1 PITX2
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.72 FOXC1 PAX6 PDX1 PITX2 PLAGL1
4 sequence-specific DNA binding GO:0043565 9.56 FOXC1 PAX6 PDX1 PITX2
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.54 PAX6 PDX1 PITX2
6 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.33 FOXC1 PAX6 PLAGL1
7 chromatin binding GO:0003682 9.26 CENPF PAX6 PDX1 PITX2
8 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
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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