MCID: CLN022
MIFTS: 26

Colonic Atresia

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Colonic Atresia

MalaCards integrated aliases for Colonic Atresia:

Name: Colonic Atresia 57 76 53 59

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
colonic atresia:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 303650
Orphanet 59 ORPHA1198
ICD10 via Orphanet 34 Q42.9
UMLS via Orphanet 74 C0266190
MedGen 42 C0266190

Summaries for Colonic Atresia

MalaCards based summary : Colonic Atresia is related to gastroschisis and anus, imperforate. Affiliated tissues include colon, spinal cord and pancreas, and related phenotypes are peptic ulcer and abdominal distention

Wikipedia : 76 Intestinal atresia is a malformation where there is a narrowing or absence of a portion of 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 19)
# Related Disease Score Top Affiliating Genes
1 gastroschisis 10.0
2 anus, imperforate 10.0
3 enterocolitis 10.0
4 bile duct cysts 10.0
5 perinatal necrotizing enterocolitis 10.0
6 hemifacial hyperplasia 9.7
7 pancreas, annular 9.7
8 cystic fibrosis 9.7
9 jejunal atresia 9.7
10 pyloric atresia 9.7
11 fryns microphthalmia syndrome 9.7
12 omphalocele 9.7
13 megacolon 9.7
14 mesenteric vascular occlusion 9.7
15 congenital varicella syndrome 9.7
16 cryptophthalmos 9.7
17 encephalocele 9.7
18 pentalogy of cantrell 9.7
19 frontal encephalocele 9.7

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



Diseases related to Colonic Atresia

Symptoms & Phenotypes for Colonic Atresia

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
congenital colonic atresia
distended proximal colon
small distal colon
blind sigmoid pouch


Clinical features from OMIM:

303650

Human phenotypes related to Colonic Atresia:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peptic ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0004398
2 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
3 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
4 duodenal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0100867
5 abdominal situs inversus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003363
6 gastroschisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001543
7 colonic atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010448
8 abnormality of the mesentery 59 Frequent (79-30%)
9 abnormality of mesentery morphology 32 frequent (33%) HP:0100016

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:

41
Colon, Spinal Cord, Pancreas

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
The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn. ( 26180651 )
2015
5
Colonic atresia associated with annular pancreas: An extremely rare and previously unreported association. ( 26166992 )
2015
6
Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases. ( 24834374 )
2014
7
Colonic Atresia due to Internal Herniation through the Falciform Ligament Defect: A Case Report. ( 26023492 )
2014
8
Congenital hernia of the umbilical cord associated with extracelomic colonic atresia and perforation of gut in a newborn. ( 24647301 )
2014
9
Colonic atresia. ( 23975050 )
2013
10
Colonic Atresia Presenting as Neonatal Bowel Obstruction in Cystic Fibrosis. ( 23059642 )
2012
11
Colonic atresia and stenosis: our experience. ( 26023363 )
2012
12
Proximal colonic atresia: is right hemicolectomy inevitable? ( 21779974 )
2011
13
Type 1 Bland Sutton colonic atresia complicated by fetalis hydrops in a premature neonate. ( 21680307 )
2011
14
Management of isolated and associated colonic atresia. ( 21327949 )
2011
15
Colonic atresia: a clinicopathological insight into its etiology. ( 20027542 )
2010
16
An alternative management option for colonic atresia preventing loss of the ileocecal valve. ( 20620351 )
2010
17
Congenital colonic atresia: report of one case. ( 20675245 )
2010
18
Modified colostomy technique for colonic atresia in calves. ( 20459504 )
2010
19
Management of colonic atresia with primary resection and anastomosis. ( 19517120 )
2009
20
Gastroschisis with jejunal and colonic atresia, and isolated colonic atresia in dichorionic, diamniotic twins. ( 19308430 )
2009
21
Colonic atresia and choledochal cyst: a rare combination. ( 18985360 )
2009
22
Multiple jejunoileal atresia and colonic atresia managed by multiple primary anastomosis with a single gastroperineal transanastomotic tube without stomas. ( 18970921 )
2008
23
Fraser-cryptophthalmos syndrome with colonic atresia. ( 18334805 )
2008
24
Association of rare intestinal malformations: colonic atresia and intestinal neuronal dysplasia. ( 18165207 )
2007
25
Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon. ( 17270533 )
2007
26
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. ( 17302520 )
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
Isolated fetal ascites caused by bowel perforation due to colonic atresia. ( 16147839 )
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
Colonic atresia without mesenteric vascular occlusion. The role of the fibroblast growth factor 10 signaling pathway. ( 15750935 )
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
Gastroschisis with omphalomesenteric artery remnant, colonic atresia and arthrogryposis multiplex congenita. ( 14618526 )
2003
37
Congenital colonic atresia: should primary anastomosis always be the goal? ( 12721715 )
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
Colonic atresia: surgical management and outcome. ( 11727055 )
2001
41
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. ( 11315294 )
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 associated with Hirschsprung's disease: it is not a diagnostic challenge. ( 9926312 )
1998
46
Colonic atresia secondary to a choledochal cyst. ( 9639633 )
1998
47
Hirschsprung's disease, colonic atresia, and absent hand: a new triad. ( 9314266 )
1997
48
Colonic atresia combined with Hirschsprung's disease: a diagnostic and therapeutic challenge. ( 7472987 )
1995
49
Colonic atresia and spinal cord atrophy associated with a case of fetal varicella syndrome. ( 8523241 )
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 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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