MCID: INT060
MIFTS: 42

Intestinal Atresia malady

Genetic diseases, Gastrointestinal diseases, Rare diseases, Fetal diseases categories

Summaries for Intestinal Atresia

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Wikipedia:63 Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the... more...

MalaCards based summary: Intestinal Atresia is related to intestinal atresia, multiple and imperforate anus. An important gene associated with Intestinal Atresia is TTC7A (tetratricopeptide repeat domain 7A), and among its related pathways are Digestion of dietary carbohydrate and Heart Development. The compounds Uridine diphosphate glucose and D-Glucose have been mentioned in the context of this disorder. Affiliated tissues include small intestine, smooth muscle and brain, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Aliases & Classifications for Intestinal Atresia

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Intestinal Atresia, Aliases & Descriptions:

Name: Intestinal Atresia 9 11 60


Classifications:



External Ids:

Disease Ontology9 DOID:10486
MeSH33 D007409
NCIt38 C84790

Related Diseases for Intestinal Atresia

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Diseases in the Intestinal Atresia family:

Intestinal Atresia, Multiple

Diseases related to Intestinal Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1intestinal atresia, multiple31.5TREH
2imperforate anus30.6ARID3B, CPLX3
3gastroschisis10.6
4umbilical cord ulceration and intestinal atresia10.6
5intussusception10.5
6atresia of small intestine10.3
7riboflavin deficiency10.3MTHFR
8esophageal atresia10.3FGF10
9severe combined immunodeficiency10.3
10microcephaly10.3
11jejunal atresia10.3
12pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula10.3
13peters anomaly10.3FOXC1, PAX6
14glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.3FOXC1, PAX6
15axenfeld-rieger syndrome, type 310.3FOXC1, PAX6
16peritonitis10.2
17aniridia10.2FOXC1, PAX6
18spiradenoma10.2FOXC1, PAX6
19meconium ileus10.1
20jejunoileitis10.1
21short bowel syndrome10.1
22intestinal volvulus10.1
23duodenitis10.1
24intestinal obstruction10.1
25ileus10.1
26omphalocele10.1
27developmental disabilities10.1FOXC1, PAX6
28cerebrovascular disease10.1MTHFR, FABP2
29mitchell-riley syndrome10.0
30frias syndrome10.0
31feingold syndrome10.0
32hemochromatosis10.0
33eagle-barrett syndrome10.0
34pulmonary hypertension10.0
35glomerulonephritis10.0
36hepatitis10.0
37holoprosencephaly10.0
38meckel's diverticulum10.0
39choanal atresia10.0
40neuronitis10.0
41angiodysplasia10.0
42neonatal diabetes mellitus10.0
43polyhydramnios10.0
44situs inversus10.0
45extrahepatic cholestasis10.0
46biliary atresia10.0
47cholestasis10.0
48esophagitis10.0
49thrombophilia10.0
50neonatal hemochromatosis10.0

Graphical network of the top 20 diseases related to Intestinal Atresia:



Diseases related to intestinal atresia

Symptoms for Intestinal Atresia

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Drugs & Therapeutics for Intestinal Atresia

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Drug clinical trials:

Search ClinicalTrials for Intestinal Atresia

Search NIH Clinical Center for Intestinal Atresia

Genetic Tests for Intestinal Atresia

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Anatomical Context for Intestinal Atresia

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MalaCards organs/tissues related to Intestinal Atresia:

31
Small intestine, Smooth muscle, Brain, Colon, Pancreas, Eye, Liver, Skin, Testes

Animal Models for Intestinal Atresia or affiliated genes

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Publications for Intestinal Atresia

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Articles related to Intestinal Atresia:

(show top 50)    (show all 229)
idTitleAuthorsYear
1
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
2
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. (24931897)
2014
3
Multiple intestinal atresia with combined immune deficiency. (25268403)
2014
4
Population-based study of esophageal and small intestinal atresia/stenosis. (24730728)
2014
5
Laparoscopy-assisted surgery for neonatal intestinal atresia and stenosis: a report of 35 cases. (23143134)
2012
6
Early colonization of intestinal bifidobacteria and lactobacilli in the postoperative neonates with congenital intestinal atresia. (21384062)
2011
7
Intestinal atresia and ectopia in a bovine fetus. (20926733)
2011
8
Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. (20160426)
2010
9
Is umbilical cord ulcer associated with congenital upper intestinal atresia so rare? Japanese case series and review of the literature. (20881370)
2010
10
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. (19887127)
2010
11
Intestinal atresia in association with gastroschisis: a 26-year review. (20676892)
2010
12
Catheter enterostomy and patch repair of the abdominal wall for gastroschisis with intestinal atresia: report of a case. (19639444)
2009
13
Different types of intestinal atresia in identical twins. (19040960)
2008
14
Morphological abnormalities in the innervation of the atretic segment of bowel in neonates with intestinal atresia. (17955249)
2007
15
A possible association between maternal glomerulonephritis and congenital intestinal atresia/stenosis--a population-based case-control study. (17569014)
2007
16
Pyloric obstruction, duodenal dilatation, and extrahepatic cholestasis: a neonatal triad suggesting multiple intestinal atresias. (17011287)
2006
17
Does small intestinal atresia affect epithelial protein expression in human newborns? (17130731)
2006
18
The fibroblast growth factor pathway serves a regulatory role in proliferation and apoptosis in the pathogenesis of intestinal atresia. (16410122)
2006
19
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. (15821734)
2005
20
Association between multiple intestinal atresia and omphalocele: a case report. (11486351)
2001
21
Intestinal atresia: an end-to-end linear anastomotic technique. (11727065)
2001
22
Inherited thrombophilia: a possible cause of in utero vascular thrombosis in children with intestinal atresia. (11479844)
2001
23
Congenital small bowel diverticulosis and intestinal atresia: a rare association. (10770404)
2000
24
Intestinal atresia with gastroschisis: a selective approach to management. (10999689)
2000
25
Congenital intestinal atresia in a Kerry blue terrier. (10563244)
1999
26
Intestinal atresia and stenosis: a 25-year experience with 277 cases. (9605910)
1998
27
Mesenteric defects as a cause of intestinal volvulus without malrotation and as the possible primary etiology of intestinal atresia. (8786519)
1995
28
Intestinal bilious vomiting--an unusual presentation of intestinal atresia in the newborn. (7625312)
1994
29
Hereditary multiple intestinal atresia--ultrasound findings and outcome of pregnancy in an affected case. (8183838)
1994
30
Myoelectric activity differences in acute and chronic models of lamb intestinal atresia. (3440912)
1987
31
Intestinal atresia and stenosis: a review comparing its morphology. (3962173)
1986
32
Intestinal atresia and stenosis: a review comparing its etiopathogenesis. (3962177)
1986
33
A 13q- syndrome with extensive intestinal atresia. (3993382)
1985
34
Intestinal atresia (report of 4 cases). (6481656)
1984
35
Operative mangement of intestinal atresia and stenosis based on pathologic findings. (480102)
1979
36
Gastroschisis complicated by intestinal atresia. (142311)
1977
37
Duodenojejunal atresia with "apple-peel" small bowel. A distinct form of intestinal atresia. (1251017)
1976
38
The pathogenesis of intestinal atresia. (1154228)
1975
39
Small intestinal atresia: the critical role of a functioning anastomosis. (4207350)
1974
40
Vomiting in utero with intestinal atresia. (4556279)
1972
41
Effect of changing concepts upon the diagnosis and management of intestinal atresia. (5538726)
1971
42
Small intestinal atresia. (5577678)
1971
43
Etiology and treatment of small intestinal atresia: analysis of a series of 127 jejunoileal atresias and comparison with 62 duodenal atresias. (5538950)
1971
44
Apple peel syndrome (congenital intestinal atresia): a family study of seven index patients. (5345098)
1969
45
The various patterns of intestinal atresia. (5676609)
1968
46
TOTAL INTESTINAL ATRESIA. (14146536)
1964
47
The occurrence of intestinal atresia in newborns with meconium ileus. The pathogenesis of an acquired anomaly. (13799829)
1960
48
Intestinal atresia: an attempt to relate location to embryologic processes. (14419162)
1959
49
Congenital intestinal atresia; a report of 17 cases. (13520228)
1958
50
The genesis of intestinal atresia. (13433397)
1957

Variations for Intestinal Atresia

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Expression for genes affiliated with Intestinal Atresia

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Search GEO for disease gene expression data for Intestinal Atresia.

Pathways for genes affiliated with Intestinal Atresia

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Compounds for genes affiliated with Intestinal Atresia

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Sources:
24HMDB, 43Novoseek, 12DrugBank, 59Tocris Bioscience
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Compounds related to Intestinal Atresia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1Uridine diphosphate glucose2410.0SI, TREH
2D-Glucose249.8SI, TREH
3bromodeoxyuridine439.4FGF10, MYCN, PAX6
4riboflavin43 24 1211.1BLVRB, MTHFR
5carbon439.0TREH, SI, MTHFR, BLVRB
6alanine439.0TREH, SI, MTHFR, FABP2, PAX6
7testosterone43 59 24 1211.7FGF10, PLAGL1, MTHFR, BLVRB
8retinoic acid43 249.6PAX6, MYCN, FABP2, MTHFR, FGF10
9glucose438.3BLVRB, PAX6, ONECUT1, FABP2, SI, TREH

GO Terms for genes affiliated with Intestinal Atresia

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Cellular components related to Intestinal Atresia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.6FGF10, ARID3B, PLAGL1, FOXC1, RFX6, MYCN

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1type B pancreatic cell differentiationGO:000330910.1RFX6, PAX6
2polysaccharide digestionGO:004424510.1TREH, SI
3eye developmentGO:000165410.1PAX6, FOXC1
4pituitary gland developmentGO:00219839.8FGF10, PAX6
5lacrimal gland developmentGO:00328089.8FGF10, FOXC1, PAX6
6endocrine pancreas developmentGO:00310189.7RFX6, ONECUT1
7branching morphogenesis of an epithelial tubeGO:00487549.7MYCN, FGF10
8blood vessel remodelingGO:00019749.5FGF10, FOXC1
9spleen developmentGO:00485369.5FGF10, ONECUT1
10positive regulation of transcription, DNA-templatedGO:00458939.4FGF10, FOXC1, RFX6, PAX6
11positive regulation of transcription from RNA polymerase II promoterGO:00459448.5PAX6, ONECUT1, MYCN, FOXC1, PLAGL1, FGF10

Products for genes affiliated with Intestinal Atresia

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Sources for Intestinal Atresia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet