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 58 77 54 60

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
colonic atresia:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 303650
ICD10 via Orphanet 35 Q42.9
UMLS via Orphanet 75 C0266190
Orphanet 60 ORPHA1198
MedGen 43 C0266190

Summaries for Colonic Atresia

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

Wikipedia : 77 Intestinal atresia is any congenital malformation of the intestine which causes bowel obstruction. The... more...

Description from OMIM: 303650

Related Diseases for Colonic Atresia

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 gastroschisis 10.1
2 abdominal wall defect 10.1
3 anus, imperforate 10.0
4 enterocolitis 10.0
5 bile duct cysts 10.0
6 perinatal necrotizing enterocolitis 10.0
7 pancreas, annular 9.8
8 cystic fibrosis 9.8
9 jejunal atresia 9.8
10 pyloric atresia 9.8
11 thoracoabdominal syndrome 9.8
12 fryns microphthalmia syndrome 9.8
13 distal arthrogryposis 9.8
14 omphalocele 9.8
15 megacolon 9.8
16 mesenteric vascular occlusion 9.8
17 congenital varicella syndrome 9.8
18 cryptophthalmos 9.8
19 encephalocele 9.8
20 pentalogy of cantrell 9.8
21 frontal encephalocele 9.8

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:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peptic ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0004398
2 colonic atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010448
3 duodenal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0100867
4 abnormality of mesentery morphology 33 frequent (33%) HP:0100016
5 abdominal distention 60 33 occasional (7.5%) Occasional (29-5%) HP:0003270
6 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
7 abdominal situs inversus 60 33 occasional (7.5%) Occasional (29-5%) HP:0003363
8 gastroschisis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001543
9 abnormality of the mesentery 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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:

42
Colon, Pancreas, Spinal Cord

Publications for Colonic Atresia

Articles related to Colonic Atresia:

(show top 50) (show all 71)
# Title Authors Year
1
Radiological feature of colonic atresia. ( 29374628 )
2018
2
Demographic Study and Management of Colonic Atresia: Single-Center Experience with Review of Literature. ( 30443116 )
2018
3
Colonic Atresia: Association with Other Anomalies. ( 27896155 )
2016
4
Colonic atresia associated with annular pancreas: An extremely rare and previously unreported association. ( 26166992 )
2015
5
The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn. ( 26180651 )
2015
6
Colonic atresia presenting as neonatal bowel obstruction in cystic fibrosis. ( 23059642 )
2014
7
Congenital hernia of the umbilical cord associated with extracelomic colonic atresia and perforation of gut in a newborn. ( 24647301 )
2014
8
Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases. ( 24834374 )
2014
9
Colonic Atresia due to Internal Herniation through the Falciform Ligament Defect: A Case Report. ( 26023492 )
2014
10
Colonic atresia. ( 23975050 )
2013
11
Colonic atresia and stenosis: our experience. ( 26023363 )
2012
12
Management of isolated and associated colonic atresia. ( 21327949 )
2011
13
Type 1 Bland Sutton colonic atresia complicated by fetalis hydrops in a premature neonate. ( 21680307 )
2011
14
Proximal colonic atresia: is right hemicolectomy inevitable? ( 21779974 )
2011
15
Colonic atresia: a clinicopathological insight into its etiology. ( 20027542 )
2010
16
Modified colostomy technique for colonic atresia in calves. ( 20459504 )
2010
17
An alternative management option for colonic atresia preventing loss of the ileocecal valve. ( 20620351 )
2010
18
Congenital colonic atresia: report of one case. ( 20675245 )
2010
19
Colonic atresia and choledochal cyst: a rare combination. ( 18985360 )
2009
20
Gastroschisis with jejunal and colonic atresia, and isolated colonic atresia in dichorionic, diamniotic twins. ( 19308430 )
2009
21
Management of colonic atresia with primary resection and anastomosis. ( 19517120 )
2009
22
Fraser-cryptophthalmos syndrome with colonic atresia. ( 18334805 )
2008
23
Multiple jejunoileal atresia and colonic atresia managed by multiple primary anastomosis with a single gastroperineal transanastomotic tube without stomas. ( 18970921 )
2008
24
Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon. ( 17270533 )
2007
25
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. ( 17302520 )
2007
26
Association of rare intestinal malformations: colonic atresia and intestinal neuronal dysplasia. ( 18165207 )
2007
27
Association of colonic atresia and Hirschsprung's disease in the newborn: report of a new case and review of the literature. ( 16021458 )
2006
28
Rare association of severe hypoplasia of the abdominal aorta with imperforate anus, colonic atresia, and choledochal cyst. ( 16311737 )
2006
29
Colonic atresia without mesenteric vascular occlusion. The role of the fibroblast growth factor 10 signaling pathway. ( 15750935 )
2005
30
Congenital segmental dilatation of colon with colonic atresia. ( 16041111 )
2005
31
Colonic atresia: spectrum of presentation and pitfalls in management. A review of 14 cases. ( 16133521 )
2005
32
Isolated fetal ascites caused by bowel perforation due to colonic atresia. ( 16147839 )
2005
33
Hirschsprung's disease complicating colonic atresia. ( 15163878 )
2004
34
Colonic atresia and associated anomalies. ( 12654153 )
2003
35
Colonic atresia and Hirschsprung's disease: importance of histologic examination of the distal bowel. ( 12677592 )
2003
36
Congenital colonic atresia: should primary anastomosis always be the goal? ( 12721715 )
2003
37
Gastroschisis with omphalomesenteric artery remnant, colonic atresia and arthrogryposis multiplex congenita. ( 14618526 )
2003
38
Colonic atresia and Hirschsprung's disease: importance of histologic examination of the distal bowel. ( 12149719 )
2002
39
Colonic atresia: From suspicion to confirmation on pre-operative radiology. ( 12354272 )
2002
40
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. ( 11315294 )
2001
41
Colonic atresia: surgical management and outcome. ( 11727055 )
2001
42
Colonic atresia in monozygotic twins. ( 10756344 )
2000
43
A male newborn with colonic atresia and total colonic aganglionosis. ( 10079352 )
1999
44
Appendicostomy as a venting enterostomy for colonic atresia. ( 10448244 )
1999
45
Colonic atresia secondary to a choledochal cyst. ( 9639633 )
1998
46
Colonic atresia associated with Hirschsprung's disease: it is not a diagnostic challenge. ( 9926312 )
1998
47
Hirschsprung's disease, colonic atresia, and absent hand: a new triad. ( 9314266 )
1997
48
Colonic atresia and spinal cord atrophy associated with a case of fetal varicella syndrome. ( 8523241 )
1995
49
Colonic atresia combined with Hirschsprung's disease: a diagnostic and therapeutic challenge. ( 7472987 )
1995
50
Non-fixation of the colon in colonic atresia: a new finding. ( 7936789 )
1994

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
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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