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 structure of the intestine that causes bowel... 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 (showing 8, show less)
# 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 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
7 gastroschisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001543
8 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270

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:

(showing 154, show less)
# Title Authors PMID Year
1
Colonic atresia in monozygotic twins. 61 56
10756344 2000
2
Familial occurrence of congenital colonic atresia. 61 56
7264804 1981
3
Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates. 61
32572600 2020
4
Congenital multiple colonic atresias with intestinal malrotation: a case report. 61
32232592 2020
5
Challenges and Outcome of Management of Gastroschisis at a Tertiary Institution in North-Eastern Nigeria. 61
32195264 2020
6
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
7
Early diagnosis and surgical intervention untie the Gordian knot in newborns with colonic atresia: report of two cases and review of the literature. 61
31891361 2019
8
Maternal genitourinary infections and risk of birth defects in the National Birth Defects Prevention Study. 61
30402975 2018
9
Demographic Study and Management of Colonic Atresia: Single-Center Experience with Review of Literature. 61
30443116 2018
10
Radiological feature of colonic atresia. 61
29374628 2018
11
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
12
Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda. 61
28677072 2017
13
Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia. 61
27023781 2017
14
Intestinal Atresia: Experience at a Busy Center of North-West India. 61
27896159 2016
15
Alimentary Tract Atresias associated with Anorectal Malformations: 10 Years' Experience. 61
27896151 2016
16
Congenital Neonatal Intestinal Obstruction: Retrospective Analysis at Tertiary Care Hospital. 61
27896157 2016
17
Colonic Atresia: Association with Other Anomalies. 61
27896155 2016
18
Gallbladder Duplication Associated with Gastro-Intestinal Atresia. 61
27123398 2016
19
Multiple Congenital Colonic Stenosis: A Rare Gastrointestinal Malformation. 61
27066287 2016
20
Colonic atresia associated with annular pancreas: An extremely rare and previously unreported association. 61
26166992 2015
21
Atresia of the Colon Associated with Hirschsprung's Disease. 61
25959916 2015
22
Maternal occupational exposure to ionizing radiation and major structural birth defects. 61
25820072 2015
23
The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn. 61
26180651 2015
24
Malrotation and intestinal atresias. 61
25448782 2014
25
An unlikely cause of severe malnutrition in a 3-year-old girl with previous gastroschisis. 61
25183805 2014
26
Colonic atresia presenting as neonatal bowel obstruction in cystic fibrosis. 61
23059642 2014
27
Colonic Atresia due to Internal Herniation through the Falciform Ligament Defect: A Case Report. 61
26023492 2014
28
Exogenous Sonic hedgehog protein does not rescue cultured intestine from atresia formation. 61
24393341 2014
29
Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases. 61
24834374 2014
30
Congenital hernia of the umbilical cord associated with extracelomic colonic atresia and perforation of gut in a newborn. 61
24647301 2014
31
Anorectal atresia with gross terminal colonic distension in Africa. 61
23887770 2013
32
Congenital pyloric atresia and associated anomalies: a case series. 61
26023460 2013
33
Colonic atresia. 61
23975050 2013
34
Clinical experience of complex jejunal atresia. 61
22806604 2012
35
Colostomy in neonates under local anaesthesia: indications, technique and outcome. 61
22878775 2012
36
Characterization of a novel fibroblast growth factor 10 (Fgf10) knock-in mouse line to target mesenchymal progenitors during embryonic development. 61
22719891 2012
37
Colonic atresia and stenosis: our experience. 61
26023363 2012
38
Colon atresia and frontal encephalocele: a rare association. 61
22152902 2011
39
Proximal colonic atresia: is right hemicolectomy inevitable? 61
21779974 2011
40
[Nonimmune hydrops fetalis associated with congenital small bowel atresia--a case study]. 61
22379934 2011
41
Type 1 Bland Sutton colonic atresia complicated by fetalis hydrops in a premature neonate. 61
21680307 2011
42
Management of isolated and associated colonic atresia. 61
21327949 2011
43
Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis. 61
20820789 2011
44
Pathogenic implications of remnant vitelline structures in gastroschisis. 61
20920723 2010
45
Modified colostomy technique for colonic atresia in calves. 61
20459504 2010
46
An alternative management option for colonic atresia preventing loss of the ileocecal valve. 61
20620351 2010
47
Congenital colonic atresia: report of one case. 61
20675245 2010
48
Pictorial essay: Distal colostography. 61
20607024 2010
49
Colonic atresia: a clinicopathological insight into its etiology. 61
20027542 2010
50
The role of amniotic fluid in influencing neonatal birth weight. 61
19626029 2010
51
[Colonic atresia: report of two cases]. 61
21954407 2010
52
Individualized management of upper rectal atresia. 61
20006038 2009
53
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome? 61
19938077 2009
54
Management of colonic atresia with primary resection and anastomosis. 61
19517120 2009
55
Omphalocele minor associated with complete absence of the large bowel. 61
19517123 2009
56
Gastroschisis with jejunal and colonic atresia, and isolated colonic atresia in dichorionic, diamniotic twins. 61
19308430 2009
57
Congenital colonic stenosis: a case of late-onset. 61
19739493 2009
58
Multiple malformations: a possible Sonic hedgehog phenotype? 61
19205729 2009
59
Colonic atresia and choledochal cyst: a rare combination. 61
18985360 2009
60
Multiple jejunoileal atresia and colonic atresia managed by multiple primary anastomosis with a single gastroperineal transanastomotic tube without stomas. 61
18970921 2008
61
Intestinal atresias: factors affecting clinical outcomes. 61
18639676 2008
62
Fraser-cryptophthalmos syndrome with colonic atresia. 61
18334805 2008
63
Reduced distribution of pacemaking cells in dilated colon. 61
17943292 2007
64
Association of rare intestinal malformations: colonic atresia and intestinal neuronal dysplasia. 61
18165207 2007
65
Patent omphalomesenteric duct and exomphalos minor: a rare and interesting association. 61
18399095 2007
66
Minimal access approach to jejunal atresia. 61
17706497 2007
67
A comprehensive analysis of 51 neonates with congenital intestinal atresia. 61
17603708 2007
68
Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon. 61
17270533 2007
69
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. 61
17302520 2007
70
Fibroblast growth factor 10 is required for survival and proliferation but not differentiation of intestinal epithelial progenitor cells during murine colon development. 61
16956603 2006
71
Association of colonic atresia and Hirschsprung's disease in the newborn: report of a new case and review of the literature. 61
16021458 2006
72
Rare association of severe hypoplasia of the abdominal aorta with imperforate anus, colonic atresia, and choledochal cyst. 61
16311737 2006
73
Perforation of the colon in neonates. 61
16338318 2005
74
Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations? 61
16761562 2005
75
Colonic atresia: spectrum of presentation and pitfalls in management. A review of 14 cases. 61
16133521 2005
76
Atresia of the colon. 61
16080929 2005
77
Congenital segmental dilatation of colon with colonic atresia. 61
16041111 2005
78
Isolated fetal ascites caused by bowel perforation due to colonic atresia. 61
16147839 2005
79
Colonic atresia without mesenteric vascular occlusion. The role of the fibroblast growth factor 10 signaling pathway. 61
15750935 2005
80
[Congenital colonic atresia. Surgery correction in one or two stages?]. 61
15901109 2005
81
Intestinal atresia: management problems in a developing country. 61
15138787 2004
82
Bowel imbrication in the management of anorectal anomalies. 61
15309467 2004
83
Hirschsprung's disease complicating colonic atresia. 61
15163878 2004
84
Morbidity and mortality of colostomy and its closure in children. 61
15065035 2004
85
Double atresia of hindgut with ileal stenosis: a case report. 61
14719515 2004
86
Gastroschisis with omphalomesenteric artery remnant, colonic atresia and arthrogryposis multiplex congenita. 61
14618526 2003
87
Colonic atresia and associated anomalies. 61
12654153 2003
88
Congenital colonic atresia: should primary anastomosis always be the goal? 61
12721715 2003
89
Colonic atresia and Hirschsprung's disease: importance of histologic examination of the distal bowel. 61
12677592 2003
90
Colonic atresia: From suspicion to confirmation on pre-operative radiology. 61
12354272 2002
91
Colonic atresia and Hirschsprung's disease: importance of histologic examination of the distal bowel. 61
12149719 2002
92
Bilious vomiting in the newborn: How often is it pathologic? 61
12037761 2002
93
Closed gastroschisis: Antenatal and postnatal features. 61
11733918 2001
94
Colonic atresia: surgical management and outcome. 61
11727055 2001
95
Management of intestinal atresia in patients with gastroschisis. 61
11584405 2001
96
[Congenital jejunoileal and colonic atresia]. 61
12004159 2001
97
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. 61
11315294 2001
98
Nonfixation of an atretic colon predicts Hirschsprung's disease. 61
11150465 2001
99
Wing-shaped end-to-end anastomosis for the treatment of high jejunal atresia. 61
11211311 2000
100
Intestinal atresia with gastroschisis: a selective approach to management. 61
10999689 2000
101
Neonatal intestinal obstruction. 61
11370333 2000
102
Intestinal atresia and stenosis: a retrospective analysis of presentation, morbidity and mortality in Zaria, Nigeria. 61
10821085 2000
103
Appendicostomy as a venting enterostomy for colonic atresia. 61
10448244 1999
104
A male newborn with colonic atresia and total colonic aganglionosis. 61
10079352 1999
105
Colonic atresia associated with Hirschsprung's disease: it is not a diagnostic challenge. 61
9926312 1998
106
Colonic atresia secondary to a choledochal cyst. 61
9639633 1998
107
Intestinal atresia and stenosis: a 25-year experience with 277 cases. 61
9605910 1998
108
Hirschsprung's disease, colonic atresia, and absent hand: a new triad. 61
9314266 1997
109
[The colonic atresia: an uncommon cause of neonatal intestinal obstruction]. 61
9131972 1996
110
Colonic atresia and spinal cord atrophy associated with a case of fetal varicella syndrome. 61
8523241 1995
111
Colonic atresia combined with Hirschsprung's disease: a diagnostic and therapeutic challenge. 61
7472987 1995
112
Non-fixation of the colon in colonic atresia: a new finding. 61
7936789 1994
113
Hereditary multiple intestinal atresia--ultrasound findings and outcome of pregnancy in an affected case. 61
8183838 1994
114
Unusual radiological presentation of colonic atresia. 61
8130307 1993
115
[Treatment of colonic atresia. Report of 3 cases]. 61
8357726 1993
116
Nonrenal cystic masses in neonates and children. 61
8462038 1993
117
Colonic atresia and Hirschsprung's disease association shows further evidence for migration of enteric neurons. 61
8483083 1993
118
[Colonic atresia: report of a case]. 61
8397387 1993
119
Acquired colonic atresia: a rare sequela of necrotizing enterocolitis. 61
8433247 1993
120
[Microcolon in newborns: clinical significance and differential diagnosis]. 61
1776439 1991
121
Colonic atresia: current results of treatment. 61
2342005 1990
122
[Colonic atresia. Apropos of 2 type I cases treated by surgical enlargement]. 61
2387004 1990
123
[Colonic atresia. Which surgical treatment?]. 61
2091837 1990
124
Intestinal atresia: factors affecting survival. 61
2920000 1989
125
Colonic atresia in cattle: A prospective study of 43 cases. 61
17423141 1988
126
A lesson in intestinal atresias. 61
3183902 1988
127
Individualized management of colonic atresia. 61
3369625 1988
128
Rectovestibular fistula associated with colonic atresia. 61
3430303 1987
129
A case of congenital colonic atresia associated with atresia ani. 61
3430305 1987
130
Congenital atresia of the colon combined with segmental dilatation of the ileum: a case report. 61
3668772 1987
131
[Colonic atresia]. 61
3752739 1986
132
[Colonic atresia in the calf]. 61
3908061 1985
133
Neonatal colonic atresia: ultrasound findings. 61
6472925 1984
134
[Make your diagnosis: pneumoperitoneum with colonic atresia]. 61
6472872 1984
135
Antral and multiple colonic atresia. 61
6618652 1983
136
Colonic atresia associated with Hirschsprung's disease. 61
6834310 1983
137
Tapering enteroplasty in infants with bowel atresia and short gut. 61
7073490 1982
138
Congenital colonic atresia. 61
7077498 1982
139
[Segmental colonic atresia - a contribution to the differential diagnosis of ileus in the newborn (author's transl)]. 61
7314955 1981
140
Hirschsprung's disease coexisting with colonic atresia. 61
7301454 1981
141
Colonic stricture following necrotizing enterocolitis. 61
7415539 1980
142
Congenital colonic atresia and stenosis. 61
495862 1979
143
[Transverse colon atresia. Case presentation (author's transl)]. 61
553729 1979
144
Vesicointestinal fissure revisited. 61
731372 1978
145
The hook sign in type 3 congenital colonic atresia. 61
98027 1978
146
Necrotizing enterocolitis (ischemic enteropathy) with the sequel of colonic atresia. 61
640348 1978
147
Congenital atresia of the colon. 61
887985 1977
148
Colonic atresia associated with Hirschsprung's disease. 61
931716 1976
149
Colonic atresia following necrotizing enterocolitis. 61
1236717 1975
150
Imperforate anus with colonic atresia. 61
4457251 1974
151
[Treatment of colonic atresia and stenosis]. 61
5047622 1972
152
[Clinical and anatomico-surgical observations on a case of ileal and colonic atresia]. 61
5093900 1971
153
[Colonic atresia: diagnostic and therapeutic considerations (4 cases)]. 61
5455218 1970
154
[Apropos of 4 cases of colonic atresia]. 61
5850171 1965

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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