MCID: DDN011
MIFTS: 40

Duodenal Atresia

Categories: Rare diseases, Fetal diseases, Gastrointestinal diseases

Aliases & Classifications for Duodenal Atresia

MalaCards integrated aliases for Duodenal Atresia:

Name: Duodenal Atresia 57 12 76 53 59 29 6
Duodenal Stenosis 53 29 55 6

Characteristics:

Orphanet epidemiological data:

59
duodenal atresia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (Spain),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (United Kingdom),1-9/100000 (Malta),1-9/100000 (Denmark),1-5/10000 (France),1-9/100000 (Reunion),1-9/100000 (Portugal),1-9/100000 (Germany),1-9/100000 (Austria),1-9/100000 (Switzerland); Age of onset: Antenatal,Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
duodenal atresia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 223400
Disease Ontology 12 DOID:0080216
Orphanet 59 ORPHA1203
ICD10 via Orphanet 34 Q41.0
MESH via Orphanet 45 C535720
UMLS via Orphanet 74 C0266174
MedGen 42 C0266174

Summaries for Duodenal Atresia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1203Disease definitionDuodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.EpidemiologyThe incidence of duodenal atresia is between 1/10,000 and 1/6,000 live births, with an approximately equal male to female ratio.Clinical descriptionIn 30-52% of infants it is an isolated anomaly, but it is often associated with other congenital abnormalities. Approximately 20 to 30% of infants with duodenal atresia are carriers of trisomy 21, and about 20 to 25% have cardiac anomalies. Other frequently described associated malformations include duodenal growth failure, annular pancreas (see this term), which are particular clinical forms of duodenal atresia, and anomalies of the biliopancreatic tract or choledochal cysts. Duodenal atresia is classified into three types: type I (duodenal diaphragm) is linked to the presence of a mucosal diaphragmatic membrane with an intact muscle wall; type II (complete a duodenal atresia) characterized by a short fibrous cord connecting the two ends of the atresic duodenum; and type III (also complete duodenal atresia) which corresponds to a complete separation of the two ends of the duodenum, sometimes together with annular pancreas. Clinical presentation depends on the degree of atresia. Important obstructions manifest during the first days of life with bilious vomiting if the obstacle is infra-vaterian, which starts in the hours after birth, and with feeding intolerance. Weight loss, dehydration, and hypochloremic metabolic alkalosis are the most common symptoms. Less severe obstructions may manifest several months, or even several years, after birth with bilious vomiting without abdominal distention (major sign); however, failure to thrive may be the only presentation.EtiologyVascular anomalies, abnormalities in neural cell migration and failure of recanalization of the duodenal lumen may play a causative role, although the exact cause remains unknown.Diagnostic methodsThe clinical diagnosis is confirmed by abdominal radiography that shows a characteristic 'double bubble'' appearance with air trapped in the first portion of the duodenum and stomach due to the simultaneous distension of the stomach and first portion of the duodenum (above the stenosis).Differential diagnosisDifferential diagnoses include late appearing pyloric stenosis in cases of incomplete diaphragm, and other forms of intestinal atresia, common mesenteric intestinal volvulus, and duodenal duplication.Antenatal diagnosisDiagnosis is prenatal in 80-90% of cases (by ultrasound in the seventh month or before that reveals the characteristic ``double bubble'' image).Genetic counselingIn most cases, duodenal atresia is sporadic, although an autosomal recessive pattern has been suggested in some families.Management and treatmentManagement involves neonatal resuscitation and surgical correction in the neonatal period. Post-operative complications are rare, but late complications (megaduodenum, blind loop syndrome, duodenogastric reflux, esophagitis, pancreatitis, cholecystitis and cholelithiasis) occur in very rare cases.PrognosisThe prognosis with early surgical intervention is excellent.Visit the Orphanet disease page for more resources.

MalaCards based summary : Duodenal Atresia, also known as duodenal stenosis, is related to exocrine pancreatic insufficiency and meconium ileus. An important gene associated with Duodenal Atresia is GUCY2C (Guanylate Cyclase 2C), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include pancreas, small intestine and lung, and related phenotypes are polyhydramnios and annular pancreas

Wikipedia : 76 Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the... more...

Description from OMIM: 223400

Related Diseases for Duodenal Atresia

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 exocrine pancreatic insufficiency 28.8 CFTR SCT
2 meconium ileus 28.5 C12orf60 CFTR GUCY2C
3 pancreatitis 28.4 CFTR SCT
4 duodenal atresia tetralogy of fallot 12.0
5 pancreas, annular 11.6
6 feingold syndrome 1 11.6
7 stromme syndrome 11.2
8 pancreatic lipomatosis duodenal stenosis 11.1
9 solitary median maxillary central incisor 11.1
10 feingold syndrome 2 11.1
11 duodenitis 10.9
12 esophagitis 10.4
13 diarrhea 6 10.3 C12orf60 GUCY2C
14 tracheoesophageal fistula with or without esophageal atresia 10.1
15 esophageal atresia 10.1
16 tracheoesophageal fistula 10.1
17 situs inversus 10.1
18 bile duct cysts 10.0
19 microcephaly 9.9
20 alveolar capillary dysplasia 9.9
21 down syndrome 9.8
22 jejunoileitis 9.8
23 biliary atresia 9.8
24 peritonitis 9.8
25 secretory diarrhea 9.8 CFTR GUCY2C
26 ehlers-danlos syndrome, classic type, 1 9.7
27 hemifacial microsomia with radial defects 9.7
28 diaphragmatic hernia, congenital 9.7
29 holt-oram syndrome 9.7
30 intussusception 9.7
31 hemifacial microsomia 9.7
32 tetralogy of fallot 9.7
33 vater/vacterl association 9.7
34 anus, imperforate 9.7
35 jejunal atresia 9.7
36 lung agenesis 9.7
37 pyloric atresia 9.7
38 polydactyly 9.7
39 diabetes mellitus, permanent neonatal 9.7
40 diabetes mellitus 9.7
41 hepatitis 9.7
42 hydrocephalus 9.7
43 leukemia 9.7
44 omphalocele 9.7
45 cloacal exstrophy 9.7
46 intestinal atresia 9.7
47 neonatal diabetes mellitus 9.7
48 choledocholithiasis 9.7
49 ehlers-danlos syndrome 9.7
50 vacterl association 9.7

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



Diseases related to Duodenal Atresia

Symptoms & Phenotypes for Duodenal Atresia

Symptoms via clinical synopsis from OMIM:

57
GI:
duodenal atresia


Clinical features from OMIM:

223400

Human phenotypes related to Duodenal Atresia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
2 annular pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001734
3 duodenal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002247
4 abnormality of the pulmonary artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0004414
5 abnormality of the pancreas 59 Occasional (29-5%)

Drugs & Therapeutics for Duodenal Atresia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy of Duodenal Prostheses Not Covered Over 6 Years Recruiting NCT03463668
2 Endoscopic Gastroenteric Anastomosis With New Tissue Apposing Stent in the Management of Antro-pyloroduodenal Obstruction : Evaluation of Feasibility, Efficacy and Tolerance. Recruiting NCT02562157 Not Applicable

Search NIH Clinical Center for Duodenal Atresia

Genetic Tests for Duodenal Atresia

Genetic tests related to Duodenal Atresia:

# Genetic test Affiliating Genes
1 Duodenal Stenosis 29
2 Duodenal Atresia 29

Anatomical Context for Duodenal Atresia

MalaCards organs/tissues related to Duodenal Atresia:

41
Pancreas, Small Intestine, Lung, Heart, Colon, Kidney

Publications for Duodenal Atresia

Articles related to Duodenal Atresia:

(show top 50) (show all 244)
# Title Authors Year
1
Double Duodenal Atresia: An Extremely Rare Presentation of Duodenal Obstruction. ( 29314383 )
2018
2
Megaduodenum in a 59-year-old man: a very late postoperative complication after duodenal atresia. ( 29351932 )
2018
3
Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature. ( 28314387 )
2017
4
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. ( 28588837 )
2017
5
Duodenal Atresia: Open versus MIS Repair-Analysis of Our Experience over the Last 12 Years. ( 28326320 )
2017
6
Prenatal sonographic diagnosis of meconium peritonitis from duodenal atresia. ( 28159774 )
2017
7
Laparoscopic Repair of Duodenal Atresia: Systematic Review and Meta-Analysis. ( 28258456 )
2017
8
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
9
Duodenal Atresia And Stenosis ( 29261981 )
2017
10
Detection of an Infant's Duodenal Atresia by Milk Scan. ( 28060781 )
2017
11
Is selective echocardiography in duodenal atresia the future standard of care? ( 28919320 )
2017
12
Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient. ( 27170921 )
2016
13
Laparoscopic duodenoduodenostomy with parallel anastomosis for duodenal atresia. ( 27655378 )
2016
14
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. ( 27695215 )
2016
15
Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report. ( 27896168 )
2016
16
Duodeno-duodenostomy or duodeno-jejunostomy for duodenal atresia: is one repair better than the other? ( 27858187 )
2016
17
Gastric Duplication Cyst in Association with Duodenal Atresia in a Neonate. ( 26816679 )
2016
18
Postoperative Gastric Perforation in a Newborn with Duodenal Atresia. ( 27896170 )
2016
19
How to treat a neonate with duodenal atresia and intrapancreatic choledochocele causing persistent hyperbilirubinemia: A case report. ( 26701845 )
2016
20
Duodenal atresia with apple-peel configuration of the ileum and absent superior mesenteric artery. ( 27596226 )
2016
21
A case report of laparoscopic duodenal atresia repair in a neonate using a novel miniature stapling device. ( 27898353 )
2016
22
Laparoscopic management of congenital duodenal atresia or stenosis: A single-center early experience. ( 26093906 )
2015
23
Evaluation of three sources of validity evidence for a laparoscopic duodenal atresia repair simulator. ( 25536230 )
2015
24
Non-classified type duodenal atresia: case report. ( 28058374 )
2015
25
Defective upper gastrointestinal function after repair of combined esophageal and duodenal atresia. ( 25840057 )
2015
26
Duodenal atresia: not always a double bubble. ( 24557485 )
2014
27
Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome. ( 25256560 )
2014
28
Recurrent duodenal atresia: a case report. ( 25330697 )
2014
29
Management of patients with combined tracheoesophageal fistula, esophageal atresia, and duodenal atresia. ( 25460495 )
2014
30
Duodenal atresia. ( 26023485 )
2014
31
Coexistence of meconium ileus with duodenal atresia and trisomy 21 in a newborn: a case report. ( 25359414 )
2014
32
Laparoscopic repair of duodenal atresia in a low birth weight neonate. ( 25197863 )
2014
33
A case of duodenal atresia with apple peel appearance: challenging the current embryology. ( 25024980 )
2014
34
Congenital Pyloric Atresia with Distal Duodenal Atresia- Role of CT Scan. ( 26023508 )
2014
35
Pyloric exclusion for treatment of complicated duodenal atresia. ( 24556975 )
2014
36
Pseudo double bubble: jejunal duplication mimicking duodenal atresia on prenatal ultrasound. ( 26023462 )
2013
37
Situs inversus in association with duodenal atresia. ( 24192475 )
2013
38
The role of parenteral nutrition following surgery for duodenal atresia or stenosis. ( 23187894 )
2013
39
Evolving duodenal atresia in a toddler. ( 22782320 )
2013
40
Supraumbilical incision with U-u umbilicoplasty for congenital duodenal atresia: the Stockholm experience. ( 24074679 )
2013
41
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. ( 23914949 )
2013
42
Management of Duodenal Atresia in the setting of Congenital Leukemia with Massive Hepatomegaly. ( 26023452 )
2013
43
Gallbladder duplication associated with duodenal atresia. ( 26023466 )
2013
44
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? ( 23824919 )
2013
45
Duodenal atresia in association with situs inversus abdominus. ( 22529552 )
2012
46
Haploinsufficiency of retinaldehyde dehydrogenase 2 decreases the severity and incidence of duodenal atresia in the fibroblast growth factor receptor 2IIIb-/- mouse model. ( 23021139 )
2012
47
Significance of abnormalities in systems proximal and distal to the obstructed site of duodenal atresia. ( 21760545 )
2012
48
Repair of duodenal atresia under spinal anesthesia in a low-birth-weight preterm neonate: case report. ( 22901941 )
2012
49
Gastric transposition after duodenoduodenostomy in infants with combined esophageal and duodenal atresia-report of three cases. ( 22648196 )
2012
50
Prenatal diagnosis of a rare sonographic appearance of duodenal atresia: report of 2 cases and literature review. ( 23091256 )
2012

Variations for Duodenal Atresia

ClinVar genetic disease variations for Duodenal Atresia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
2 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh38 Chromosome 7, 117559592: 117559594
3 GUCY2C NM_004963.3(GUCY2C): c.410T> C (p.Leu137Ser) single nucleotide variant Pathogenic rs1057519441 GRCh37 Chromosome 12, 14836177: 14836177
4 GUCY2C NM_004963.3(GUCY2C): c.410T> C (p.Leu137Ser) single nucleotide variant Pathogenic rs1057519441 GRCh38 Chromosome 12, 14683243: 14683243

Expression for Duodenal Atresia

Search GEO for disease gene expression data for Duodenal Atresia.

Pathways for Duodenal Atresia

Pathways related to Duodenal Atresia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 CFTR HNF1B

GO Terms for Duodenal Atresia

Cellular components related to Duodenal Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.62 COL5A1 ITGA6

Biological processes related to Duodenal Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skin development GO:0043588 8.62 COL5A1 ITGA6

Molecular functions related to Duodenal Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 COL5A1 ITGA6

Sources for Duodenal 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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