MCID: CLN022
MIFTS: 25

Colonic Atresia

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Colonic Atresia

MalaCards integrated aliases for Colonic Atresia:

Name: Colonic Atresia 56 74 52 58

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
colonic atresia:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 303650
ICD10 via Orphanet 33 Q42.9
UMLS via Orphanet 72 C0266190
Orphanet 58 ORPHA1198
MedGen 41 C0266190

Summaries for Colonic Atresia

MalaCards based summary : Colonic Atresia is related to intestinal obstruction and abdominal wall defect. Affiliated tissues include colon, spinal cord and pancreas, and related phenotypes are peptic ulcer and colonic atresia

Wikipedia : 74 Intestinal atresia is any congenital malformation of the intestine which causes bowel obstruction. The... more...

More information from OMIM: 303650

Related Diseases for Colonic Atresia

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



Diseases related to Colonic Atresia

Symptoms & Phenotypes for Colonic Atresia

Human phenotypes related to Colonic Atresia:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peptic ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0004398
2 colonic atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010448
3 abnormality of mesentery morphology 58 31 frequent (33%) Frequent (79-30%) HP:0100016
4 duodenal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0100867
5 abdominal situs inversus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003363
6 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
7 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
8 gastroschisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001543

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
congenital colonic atresia
distended proximal colon
small distal colon
blind sigmoid pouch

Clinical features from OMIM:

303650

Drugs & Therapeutics for Colonic Atresia

Search Clinical Trials , NIH Clinical Center for Colonic Atresia

Genetic Tests for Colonic Atresia

Anatomical Context for Colonic Atresia

MalaCards organs/tissues related to Colonic Atresia:

40
Colon, Spinal Cord, Pancreas

Publications for Colonic Atresia

Articles related to Colonic Atresia:

(show top 50) (show all 150)
# Title Authors PMID Year
1
Colonic atresia in monozygotic twins. 56 61
10756344 2000
2
Familial occurrence of congenital colonic atresia. 61 56
7264804 1981
3
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. 61
31328417 2019
4
Maternal genitourinary infections and risk of birth defects in the National Birth Defects Prevention Study. 61
30402975 2018
5
Demographic Study and Management of Colonic Atresia: Single-Center Experience with Review of Literature. 61
30443116 2018
6
Radiological feature of colonic atresia. 61
29374628 2018
7
Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997-2011. 61
29094488 2018
8
Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda. 61
28677072 2017
9
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. 61
27023781 2017
10
Intestinal Atresia: Experience at a Busy Center of North-West India. 61
27896159 2016
11
Alimentary Tract Atresias associated with Anorectal Malformations: 10 Years' Experience. 61
27896151 2016
12
Congenital Neonatal Intestinal Obstruction: Retrospective Analysis at Tertiary Care Hospital. 61
27896157 2016
13
Colonic Atresia: Association with Other Anomalies. 61
27896155 2016
14
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. 61
27123398 2016
15
Multiple Congenital Colonic Stenosis: A Rare Gastrointestinal Malformation. 61
27066287 2016
16
Colonic atresia associated with annular pancreas: An extremely rare and previously unreported association. 61
26166992 2015
17
Atresia of the Colon Associated with Hirschsprung's Disease. 61
25959916 2015
18
Maternal occupational exposure to ionizing radiation and major structural birth defects. 61
25820072 2015
19
The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn. 61
26180651 2015
20
Malrotation and intestinal atresias. 61
25448782 2014
21
An unlikely cause of severe malnutrition in a 3-year-old girl with previous gastroschisis. 61
25183805 2014
22
Colonic atresia presenting as neonatal bowel obstruction in cystic fibrosis. 61
23059642 2014
23
Colonic Atresia due to Internal Herniation through the Falciform Ligament Defect: A Case Report. 61
26023492 2014
24
Exogenous Sonic hedgehog protein does not rescue cultured intestine from atresia formation. 61
24393341 2014
25
Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases. 61
24834374 2014
26
Congenital hernia of the umbilical cord associated with extracelomic colonic atresia and perforation of gut in a newborn. 61
24647301 2014
27
Anorectal atresia with gross terminal colonic distension in Africa. 61
23887770 2013
28
Congenital pyloric atresia and associated anomalies: a case series. 61
26023460 2013
29
Colonic atresia. 61
23975050 2013
30
Clinical experience of complex jejunal atresia. 61
22806604 2012
31
Colostomy in neonates under local anaesthesia: indications, technique and outcome. 61
22878775 2012
32
Characterization of a novel fibroblast growth factor 10 (Fgf10) knock-in mouse line to target mesenchymal progenitors during embryonic development. 61
22719891 2012
33
Colonic atresia and stenosis: our experience. 61
26023363 2012
34
Colon atresia and frontal encephalocele: a rare association. 61
22152902 2011
35
Proximal colonic atresia: is right hemicolectomy inevitable? 61
21779974 2011
36
[Nonimmune hydrops fetalis associated with congenital small bowel atresia--a case study]. 61
22379934 2011
37
Type 1 Bland Sutton colonic atresia complicated by fetalis hydrops in a premature neonate. 61
21680307 2011
38
Management of isolated and associated colonic atresia. 61
21327949 2011
39
Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis. 61
20820789 2011
40
Pathogenic implications of remnant vitelline structures in gastroschisis. 61
20920723 2010
41
Modified colostomy technique for colonic atresia in calves. 61
20459504 2010
42
Congenital colonic atresia: report of one case. 61
20675245 2010
43
An alternative management option for colonic atresia preventing loss of the ileocecal valve. 61
20620351 2010
44
Pictorial essay: Distal colostography. 61
20607024 2010
45
Colonic atresia: a clinicopathological insight into its etiology. 61
20027542 2010
46
The role of amniotic fluid in influencing neonatal birth weight. 61
19626029 2010
47
[Colonic atresia: report of two cases]. 61
21954407 2010
48
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome? 61
19938077 2009
49
Individualized management of upper rectal atresia. 61
20006038 2009
50
Management of colonic atresia with primary resection and anastomosis. 61
19517120 2009

Variations for Colonic Atresia

Expression for Colonic Atresia

Search GEO for disease gene expression data for Colonic Atresia.

Pathways for Colonic Atresia

GO Terms for Colonic Atresia

Sources for Colonic 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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