Duodenal Atresia

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Duodenal Atresia

MalaCards integrated aliases for Duodenal Atresia:

Name: Duodenal Atresia 57 12 74 20 58 29 6 15
Duodenal Stenosis 20 29 54 6
Familial Duodenal Atresia 44


Orphanet epidemiological data:

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;


57 (Updated 05-Mar-2021)
autosomal recessive


duodenal atresia:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0080216
OMIM® 57 223400
MeSH 44 C535720
MESH via Orphanet 45 C535720
ICD10 via Orphanet 33 Q41.0
UMLS via Orphanet 72 C0266174
Orphanet 58 ORPHA1203
MedGen 41 C0266174

Summaries for Duodenal Atresia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1203DefinitionDuodenal 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 pancreas, annular and intestinal atresia. An important gene associated with Duodenal Atresia is C12orf60 (Chromosome 12 Open Reading Frame 60), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Regulation of beta-cell development. Affiliated tissues include pancreas, small intestine and heart, and related phenotypes are polyhydramnios and duodenal atresia

Disease Ontology : 12 An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum.

Wikipedia : 74 Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the... more...

More information 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 231)
# Related Disease Score Top Affiliating Genes
1 pancreas, annular 32.3 RFX6 FOXF1
2 intestinal atresia 30.6 RFX6 FOXF1 FGF10
3 volvulus of midgut 30.4 GUCY2C FOXF1
4 vater/vacterl association 30.1 ZIC3 FOXF1
5 meconium ileus 30.0 GUCY2C CFTR C12orf60
6 anus, imperforate 29.9 ZIC3 FOXF1 FGF10
7 renal hypodysplasia/aplasia 1 29.6 ZIC3 HNF1B FOXF1 FGF10 CFTR
8 tetralogy of fallot 29.2 ZIC3 FOXF1 FMO5 FGF10
9 ventricular septal defect 28.9 ZIC3 FOXF1 FBN2
10 stromme syndrome 11.3
11 duodenal atresia tetralogy of fallot 11.2
12 feingold syndrome 1 11.1
13 pancreatic lipomatosis duodenal stenosis 11.1
14 down syndrome 10.5
15 duodenal obstruction 10.5
16 esophageal atresia 10.5
17 chromosomal triplication 10.5
18 intestinal obstruction 10.4
19 tracheoesophageal fistula with or without esophageal atresia 10.4
20 diarrhea 6 10.3 GUCY2C C12orf60
21 bile duct cysts 10.3
22 situs inversus 10.3
23 pancreatic agenesis 1 10.2 SCT CFTR
24 biliary atresia 10.2
25 spermatocele 10.2 CFTR AFP
26 biliary dyskinesia 10.2 SCT CFTR
27 pancreatic cancer 10.1
28 bile acid malabsorption, primary 10.1 SCT CFTR
29 jejunal atresia 10.1
30 microcephaly 10.1
31 polyhydramnios 10.1
32 aneurysm 10.1
33 gastroesophageal reflux 10.1
34 gastritis 10.1
35 pancreatitis 10.1
36 peptic ulcer disease 10.1
37 peritonitis 10.1
38 dextrocardia 10.1
39 cystic kidney disease 10.1 SCT HNF1B CFTR
40 gallbladder cancer 10.0
41 crohn's disease 10.0
42 obstructive hydrocephalus 10.0 RNU4ATAC AFP
43 polycystic liver disease 10.0 SCT HNF1B CFTR
44 diaphragmatic hernia, congenital 10.0
45 hernia, hiatus 10.0
46 polydactyly 10.0
47 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
48 pulmonary hypertension 10.0
49 cholelithiasis 10.0
50 hydronephrosis 10.0

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

Diseases related to Duodenal Atresia

Symptoms & Phenotypes for Duodenal Atresia

Human phenotypes related to Duodenal Atresia:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
2 duodenal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002247
3 abnormality of the pulmonary artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004414
4 annular pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001734
5 abnormality of the pancreas 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
G I:
duodenal atresia

Clinical features from OMIM®:

223400 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Duodenal Atresia according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased circadian period length GR00213-A 8.8 FOXF1 GPR89B GUCY2C

MGI Mouse Phenotypes related to Duodenal Atresia:

# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 CFTR COL5A1 FBN2 FGF10 FMO5 FOXF1
2 digestive/alimentary MP:0005381 9.87 CFTR FGF10 FOXF1 GUCY2C ITGA6 RFX6
3 endocrine/exocrine gland MP:0005379 9.86 AFP CFTR FGF10 FOXF1 GPR89B HNF1B
4 liver/biliary system MP:0005370 9.5 AFP CFTR FBN2 FOXF1 GUCY2C HNF1B
5 mortality/aging MP:0010768 9.4 AFP CFTR COL5A1 FBN2 FGF10 FOXF1

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 Validation of a Totally Synthetic High Fidelity Laparoscopic Duodenal Atresia (DA) Surgical Simulator Recruiting NCT04114279

Search NIH Clinical Center for Duodenal Atresia

Cochrane evidence based reviews: familial duodenal atresia

Genetic Tests for Duodenal Atresia

Genetic tests related to Duodenal Atresia:

# Genetic test Affiliating Genes
1 Duodenal Atresia (disease) 29
2 Duodenal Stenosis 29

Anatomical Context for Duodenal Atresia

MalaCards organs/tissues related to Duodenal Atresia:

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

Publications for Duodenal Atresia

Articles related to Duodenal Atresia:

(show top 50) (show all 1333)
# Title Authors PMID Year
Familial duodenal atresia: a report of two families and review. 61 57
2688422 1989
Letter: Familial congenital duodenal atresia (continued). 61 57
4834311 1974
Familial congenital duodenal atresia. 57 61
5547883 1971
Familial congenital duodenal atresia. 57 61
5503698 1970
Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. 57
704218 1978
Congenital atresia and stenosis of the duodenum. A review compiled from the members of the Surgical Section of the American Academy of Pediatrics. 57
4236815 1969
[Pseudo Zollinger-Ellison syndrome in a patient with duodenal stenosis caused by tuberculosis]. 61 54
16505764 2005
Diagnostic decision-making tool for imaging term neonatal bowel obstruction. 61
33097229 2021
Anaesthesia for Antenatal Diagnosed Duodenal Atresia with Undiagnosed Persistent Pulmonary Hypertension of Neonate. 61
33510531 2021
Delayed development of vacuoles and recanalization in the duodenum: a study in human fetuses to understand susceptibility to duodenal atresia/stenosis. 61
33511891 2021
Outcomes of both complex and isolated cases of infants with large stomach on fetal ultrasound. 61
33451621 2021
Congenital biliary dilatation appearing 3 years after the correction of duodenal atresia with pancreaticobiliary maljunction. 61
33201527 2020
A case of neonate effectively treated with everolimus for giant hepatic hemangioma complicated with congenital duodenal atresia and Kasabach-Merritt syndrome. 61
33325401 2020
Endoscopic ultrasound-guided gallbladder drainage in pancreatic cancer and cholangitis: A case report. 61
33269057 2020
Pancreatoduodenectomy for paraduodenal pancreatitis: a diagnostic and therapeutic challenge. 61
33213250 2020
Appearance of fetal intestinal obstruction on fetal MRI. 61
32594545 2020
The value of saline-aided ultrasound in diagnosing congenital duodenal obstruction. 61
32715324 2020
Duodenal Atresia with Bifid Common Bile Duct. 61
32504618 2020
[Progress of research on induced pluripotent stem cell models for Down syndrome]. 61
32924131 2020
Quality of life outcomes in children born with duodenal atresia. 61
31955988 2020
Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. 61
32705777 2020
Duodenal Diverticulum as the Cause of Unexplained Duodenal Stenosis. 61
33568262 2020
Endoscopic Ultrasound-guided Fine Needle Aspiration for the Diagnosis of Duodenal Stenosis Due to Urothelial Carcinoma. 61
32963164 2020
Esophageal Atresia and Associated Duodenal Atresia: A Cohort Study and Review of the Literature. 61
32987434 2020
Endoscopic ultrasound-guided gallbladder drainage as a rescue therapy for unresectable malignant biliary obstruction: a multicenter experience. 61
32898918 2020
Atypical extensive pancreatic pseudocyst with hemorrhage in a hemodialysis patient. 61
32642008 2020
International consensus guidelines on interventional endoscopy in chronic pancreatitis. Recommendations from the working group for the international consensus guidelines for chronic pancreatitis in collaboration with the International Association of Pancreatology, the American Pancreatic Association, the Japan Pancreas Society, and European Pancreatic Club. 61
32792253 2020
"The Hopkins Mongol Case": The Dawn of the Bioethics Movement. 61
32737225 2020
Unique Case of Congenital Duodenal Atresia and a Choledochal Cyst and the Hypothesis of Their Embryological Evolution. 61
32824642 2020
Management of duodenal atresia associated with situs inversus abdominus: A case report. 61
32756156 2020
EUS-guided choledochoduodenostomy by use of electrocautery-enhanced lumen-apposing metal stents: a French multicenter study after implementation of the technique (with video). 61
32084411 2020
Groove pancreatitis: a case report with a brief review of this diagnostic challenge. 61
32677417 2020
Relationship between papilla-related variables and post endoscopic retrograde cholangiopancreatography pancreatitis: A multicenter, prospective study. 61
32511794 2020
Duodenal Stenosis: A Diagnostic Challenge in a Neonate With Poor Weight Gain. 61
32670696 2020
A case of triple digestive tract reconstruction in chronic pancreatitis complicated with bile ductal stenosis, duodenal stenosis, and portal vein stenosis: a case report. 61
32458256 2020
Sex differences in surgically correctable congenital anomalies: A systematic review. 61
32061363 2020
Genetic counseling for fetal gastrointestinal anomalies. 61
32039977 2020
Obstructive jaundice caused by ulcerative duodenal stenosis: A case report. 61
32246671 2020
Clinical data and Pediatric Quality of Life Inventory (PedsQLâ„¢) scores for children with duodenal atresia. 61
32055666 2020
Congenital duodenal obstruction in the UK: a population-based study. 61
31229958 2020
Adolescent with Superior Mesenteric Artery Syndrome. 61
33082917 2020
Successful biliary self-expandable metallic stenting using an ultra-slim endoscope for cholangitis caused by pancreatic cancer. 61
31585497 2020
Association of multiple patient and disease characteristics with the presence and type of pain in chronic pancreatitis. 61
31314128 2020
Upper Gastrointestinal Bleed in a Young Male- A Rare Presentation of Eosinophilic Gastroenteritis. 61
32219053 2020
A rare combination of MODY5 and duodenal atresia in a patient: a case report. 61
32028929 2020
Potential Benefits of Laparoscopic Repair of Duodenal Atresia: Insights from a Retrospective Comparative Study. 61
31707729 2020
The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies. 61
31167209 2020
The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia. 61
32210824 2020
Antenatal ultrasonography depicting congenital high airway obstruction syndrome with duodenal atresia. 61
32528207 2020
Fatal Course of a Male Newborn with Double Duodenal Atresia. 61
32042546 2020

Variations for Duodenal Atresia

ClinVar genetic disease variations for Duodenal Atresia:

# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C12orf60 NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser) SNV Pathogenic 375380 rs1057519441 12:14836177-14836177 12:14683243-14683243
2 CFTR NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) Deletion Likely pathogenic 7105 rs113993960 7:117199645-117199647 7:117559591-117559593

Expression for Duodenal Atresia

Search GEO for disease gene expression data for Duodenal Atresia.

Pathways for Duodenal Atresia

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 Golgi-associated vesicle membrane GO:0030660 8.62 GPR89A CFTR

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 ZIC3 RFX6 ITGA6 HNF1B FOXF1 FGF10
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 ZIC3 RFX6 HNF1B FOXF1 FGF10
3 extracellular matrix organization GO:0030198 9.62 ITGA6 FOXF1 FBN2 COL5A1
4 endocrine pancreas development GO:0031018 9.55 RFX6 HNF1B
5 inorganic anion transport GO:0015698 9.54 GPR89B GPR89A
6 lung development GO:0030324 9.54 ZIC3 FOXF1 FGF10
7 limb morphogenesis GO:0035108 9.52 FGF10 FBN2
8 lung morphogenesis GO:0060425 9.49 FOXF1 FGF10
9 epithelial tube branching involved in lung morphogenesis GO:0060441 9.46 FOXF1 FGF10
10 smooth muscle cell differentiation GO:0051145 9.43 FOXF1 FGF10
11 determination of left/right symmetry GO:0007368 9.43 ZIC3 FOXF1 FGF10
12 embryonic digestive tract morphogenesis GO:0048557 9.4 FOXF1 FGF10
13 intracellular pH reduction GO:0051452 9.16 GPR89B GPR89A
14 pancreas development GO:0031016 9.13 HNF1B FOXF1 FGF10
15 embryonic digestive tract development GO:0048566 8.8 SCT FOXF1 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated anion channel activity GO:0008308 8.62 GPR89B GPR89A

Sources for Duodenal Atresia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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