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 (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 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:

(showing 150, show less)
# 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
51
Omphalocele minor associated with complete absence of the large bowel. 61
19517123 2009
52
Congenital colonic stenosis: a case of late-onset. 61
19739493 2009
53
Gastroschisis with jejunal and colonic atresia, and isolated colonic atresia in dichorionic, diamniotic twins. 61
19308430 2009
54
Multiple malformations: a possible Sonic hedgehog phenotype? 61
19205729 2009
55
Colonic atresia and choledochal cyst: a rare combination. 61
18985360 2009
56
Multiple jejunoileal atresia and colonic atresia managed by multiple primary anastomosis with a single gastroperineal transanastomotic tube without stomas. 61
18970921 2008
57
Intestinal atresias: factors affecting clinical outcomes. 61
18639676 2008
58
Fraser-cryptophthalmos syndrome with colonic atresia. 61
18334805 2008
59
Reduced distribution of pacemaking cells in dilated colon. 61
17943292 2007
60
Association of rare intestinal malformations: colonic atresia and intestinal neuronal dysplasia. 61
18165207 2007
61
Patent omphalomesenteric duct and exomphalos minor: a rare and interesting association. 61
18399095 2007
62
Minimal access approach to jejunal atresia. 61
17706497 2007
63
A comprehensive analysis of 51 neonates with congenital intestinal atresia. 61
17603708 2007
64
Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon. 61
17270533 2007
65
Multiple vascular accidents: pentalogy of Cantrell in one twin with left sided colonic atresia in the second twin. 61
17302520 2007
66
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
67
Association of colonic atresia and Hirschsprung's disease in the newborn: report of a new case and review of the literature. 61
16021458 2006
68
Rare association of severe hypoplasia of the abdominal aorta with imperforate anus, colonic atresia, and choledochal cyst. 61
16311737 2006
69
Perforation of the colon in neonates. 61
16338318 2005
70
Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations? 61
16761562 2005
71
Colonic atresia: spectrum of presentation and pitfalls in management. A review of 14 cases. 61
16133521 2005
72
Atresia of the colon. 61
16080929 2005
73
Congenital segmental dilatation of colon with colonic atresia. 61
16041111 2005
74
Isolated fetal ascites caused by bowel perforation due to colonic atresia. 61
16147839 2005
75
Colonic atresia without mesenteric vascular occlusion. The role of the fibroblast growth factor 10 signaling pathway. 61
15750935 2005
76
[Congenital colonic atresia. Surgery correction in one or two stages?]. 61
15901109 2005
77
Intestinal atresia: management problems in a developing country. 61
15138787 2004
78
Bowel imbrication in the management of anorectal anomalies. 61
15309467 2004
79
Hirschsprung's disease complicating colonic atresia. 61
15163878 2004
80
Morbidity and mortality of colostomy and its closure in children. 61
15065035 2004
81
Double atresia of hindgut with ileal stenosis: a case report. 61
14719515 2004
82
Gastroschisis with omphalomesenteric artery remnant, colonic atresia and arthrogryposis multiplex congenita. 61
14618526 2003
83
Colonic atresia and associated anomalies. 61
12654153 2003
84
Colonic atresia and Hirschsprung's disease: importance of histologic examination of the distal bowel. 61
12677592 2003
85
Congenital colonic atresia: should primary anastomosis always be the goal? 61
12721715 2003
86
Colonic atresia: From suspicion to confirmation on pre-operative radiology. 61
12354272 2002
87
Colonic atresia and Hirschsprung's disease: importance of histologic examination of the distal bowel. 61
12149719 2002
88
Bilious vomiting in the newborn: How often is it pathologic? 61
12037761 2002
89
Closed gastroschisis: Antenatal and postnatal features. 61
11733918 2001
90
Colonic atresia: surgical management and outcome. 61
11727055 2001
91
Management of intestinal atresia in patients with gastroschisis. 61
11584405 2001
92
[Congenital jejunoileal and colonic atresia]. 61
12004159 2001
93
Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient. 61
11315294 2001
94
Nonfixation of an atretic colon predicts Hirschsprung's disease. 61
11150465 2001
95
Wing-shaped end-to-end anastomosis for the treatment of high jejunal atresia. 61
11211311 2000
96
Intestinal atresia with gastroschisis: a selective approach to management. 61
10999689 2000
97
Neonatal intestinal obstruction. 61
11370333 2000
98
Intestinal atresia and stenosis: a retrospective analysis of presentation, morbidity and mortality in Zaria, Nigeria. 61
10821085 2000
99
Appendicostomy as a venting enterostomy for colonic atresia. 61
10448244 1999
100
A male newborn with colonic atresia and total colonic aganglionosis. 61
10079352 1999
101
Colonic atresia associated with Hirschsprung's disease: it is not a diagnostic challenge. 61
9926312 1998
102
Colonic atresia secondary to a choledochal cyst. 61
9639633 1998
103
Intestinal atresia and stenosis: a 25-year experience with 277 cases. 61
9605910 1998
104
Hirschsprung's disease, colonic atresia, and absent hand: a new triad. 61
9314266 1997
105
[The colonic atresia: an uncommon cause of neonatal intestinal obstruction]. 61
9131972 1996
106
Colonic atresia and spinal cord atrophy associated with a case of fetal varicella syndrome. 61
8523241 1995
107
Colonic atresia combined with Hirschsprung's disease: a diagnostic and therapeutic challenge. 61
7472987 1995
108
Non-fixation of the colon in colonic atresia: a new finding. 61
7936789 1994
109
Hereditary multiple intestinal atresia--ultrasound findings and outcome of pregnancy in an affected case. 61
8183838 1994
110
Unusual radiological presentation of colonic atresia. 61
8130307 1993
111
[Treatment of colonic atresia. Report of 3 cases]. 61
8357726 1993
112
Nonrenal cystic masses in neonates and children. 61
8462038 1993
113
Colonic atresia and Hirschsprung's disease association shows further evidence for migration of enteric neurons. 61
8483083 1993
114
[Colonic atresia: report of a case]. 61
8397387 1993
115
Acquired colonic atresia: a rare sequela of necrotizing enterocolitis. 61
8433247 1993
116
[Microcolon in newborns: clinical significance and differential diagnosis]. 61
1776439 1991
117
Colonic atresia: current results of treatment. 61
2342005 1990
118
[Colonic atresia. Apropos of 2 type I cases treated by surgical enlargement]. 61
2387004 1990
119
[Colonic atresia. Which surgical treatment?]. 61
2091837 1990
120
Intestinal atresia: factors affecting survival. 61
2920000 1989
121
Colonic atresia in cattle: A prospective study of 43 cases. 61
17423141 1988
122
A lesson in intestinal atresias. 61
3183902 1988
123
Individualized management of colonic atresia. 61
3369625 1988
124
Rectovestibular fistula associated with colonic atresia. 61
3430303 1987
125
A case of congenital colonic atresia associated with atresia ani. 61
3430305 1987
126
Congenital atresia of the colon combined with segmental dilatation of the ileum: a case report. 61
3668772 1987
127
[Colonic atresia]. 61
3752739 1986
128
[Colonic atresia in the calf]. 61
3908061 1985
129
[Make your diagnosis: pneumoperitoneum with colonic atresia]. 61
6472872 1984
130
Neonatal colonic atresia: ultrasound findings. 61
6472925 1984
131
Antral and multiple colonic atresia. 61
6618652 1983
132
Colonic atresia associated with Hirschsprung's disease. 61
6834310 1983
133
Tapering enteroplasty in infants with bowel atresia and short gut. 61
7073490 1982
134
Congenital colonic atresia. 61
7077498 1982
135
[Segmental colonic atresia - a contribution to the differential diagnosis of ileus in the newborn (author's transl)]. 61
7314955 1981
136
Hirschsprung's disease coexisting with colonic atresia. 61
7301454 1981
137
Colonic stricture following necrotizing enterocolitis. 61
7415539 1980
138
Congenital colonic atresia and stenosis. 61
495862 1979
139
[Transverse colon atresia. Case presentation (author's transl)]. 61
553729 1979
140
Vesicointestinal fissure revisited. 61
731372 1978
141
The hook sign in type 3 congenital colonic atresia. 61
98027 1978
142
Necrotizing enterocolitis (ischemic enteropathy) with the sequel of colonic atresia. 61
640348 1978
143
Congenital atresia of the colon. 61
887985 1977
144
Colonic atresia associated with Hirschsprung's disease. 61
931716 1976
145
Colonic atresia following necrotizing enterocolitis. 61
1236717 1975
146
Imperforate anus with colonic atresia. 61
4457251 1974
147
[Treatment of colonic atresia and stenosis]. 61
5047622 1972
148
[Clinical and anatomico-surgical observations on a case of ileal and colonic atresia]. 61
5093900 1971
149
[Colonic atresia: diagnostic and therapeutic considerations (4 cases)]. 61
5455218 1970
150
[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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