MCID: DDN011
MIFTS: 50

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 56 12 74 52 58 29 6 15
Duodenal Stenosis 52 29 54 6
Familial Duodenal Atresia 43

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive


HPO:

31
duodenal atresia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080216
OMIM 56 223400
MeSH 43 C535720
MESH via Orphanet 44 C535720
ICD10 via Orphanet 33 Q41.0
UMLS via Orphanet 72 C0266174
Orphanet 58 ORPHA1203
MedGen 41 C0266174

Summaries for Duodenal Atresia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1203 Definition Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen. Epidemiology The incidence of duodenal atresia is between 1/10,000 and 1/6,000 live births, with an approximately equal male to female ratio. Clinical description In 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. Etiology Vascular 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 methods The 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 diagnosis Differential 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 diagnosis Diagnosis is prenatal in 80-90% of cases (by ultrasound in the seventh month or before that reveals the characteristic ``double bubble'' image). Genetic counseling In most cases, duodenal atresia is sporadic, although an autosomal recessive pattern has been suggested in some families. Management and treatment Management 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. Prognosis The 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 feingold syndrome 1 and pancreas, annular. An important gene associated with Duodenal Atresia is GUCY2C (Guanylate Cyclase 2C), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Regulation of beta-cell development. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include pancreas, heart and small intestine, 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 226)
# Related Disease Score Top Affiliating Genes
1 feingold syndrome 1 33.1 TEF RNU4ATAC MYCN FOXF1
2 pancreas, annular 33.0 TEF SCT RFX6 FOXF1
3 esophageal atresia 31.0 TEF MYCN FOXF1
4 intestinal atresia 30.7 TEF RFX6 FOXF1 FGF10
5 volvulus of midgut 30.6 GUCY2C FOXF1
6 renal hypodysplasia/aplasia 1 30.5 HNF1B FGF10 CFTR
7 polyhydramnios 30.5 TEF HNF1B AFP
8 hernia, hiatus 30.3 TEF FOXF1
9 meconium ileus 30.3 GUCY2C CFTR C12orf60
10 diaphragmatic hernia, congenital 29.9 TEF FOXF1 FGF10 ALDH1A2
11 tetralogy of fallot 29.5 TEF FMO5 FGF10 ALDH1A2
12 duodenal atresia tetralogy of fallot 12.4
13 stromme syndrome 11.5
14 pancreatic lipomatosis duodenal stenosis 11.4
15 feingold syndrome 2 11.4
16 down syndrome 10.5
17 duodenal obstruction 10.5
18 diarrhea 6 10.5 GUCY2C C12orf60
19 chromosomal triplication 10.5
20 intestinal obstruction 10.4
21 tracheoesophageal fistula with or without esophageal atresia 10.4
22 pancreatic agenesis 1 10.4 SCT CFTR
23 bile acid malabsorption, primary 10.3 SCT CFTR
24 bile duct cysts 10.3
25 situs inversus 10.3
26 biliary dyskinesia 10.3 SCT CFTR
27 polycystic kidney disease 1 with or without polycystic liver disease 10.2 SCT HNF1B CFTR
28 polycystic liver disease 10.2 SCT HNF1B CFTR
29 biliary atresia 10.2
30 jejunal atresia 10.1
31 microcephaly 10.1
32 loeys-dietz syndrome 10.1 GUCY2C FBN2 COL5A1
33 physical disorder 10.1 RNU4ATAC FGF10 AFP
34 pancreatic cancer 10.1
35 diaphragm disease 10.1 TEF FGF10 ALDH1A2
36 gastroesophageal reflux 10.1
37 gastritis 10.1
38 peptic ulcer disease 10.1
39 peritonitis 10.1
40 dextrocardia 10.1
41 hemochromatosis, type 2a 10.0 GPR89B GPR89A
42 gallbladder cancer 10.0
43 crohn's disease 10.0
44 aneurysm 10.0
45 anus, imperforate 10.0
46 polydactyly 10.0
47 cholelithiasis 10.0
48 hydronephrosis 10.0
49 respiratory failure 10.0
50 esophagitis 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:

56
G I:
duodenal atresia

Clinical features from OMIM:

223400

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

26
# 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 ALDH1A2 CFTR COL5A1 FBN2 FGF10 FMO5
2 homeostasis/metabolism MP:0005376 10.03 AFP ALDH1A2 CFTR FBN2 FGF10 FMO5
3 craniofacial MP:0005382 9.95 ALDH1A2 CFTR FBN2 FGF10 GPR89B ITGA6
4 digestive/alimentary MP:0005381 9.91 CFTR FGF10 FOXF1 GUCY2C ITGA6 MYCN
5 mortality/aging MP:0010768 9.8 AFP ALDH1A2 CFTR COL5A1 FBN2 FGF10
6 liver/biliary system MP:0005370 9.7 AFP CFTR FBN2 GUCY2C HNF1B MYCN
7 respiratory system MP:0005388 9.17 ALDH1A2 CFTR FBN2 FGF10 FOXF1 ITGA6

Drugs & Therapeutics for Duodenal Atresia

Drugs for Duodenal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Combined General-epidural vs General Anaesthesia on Postoperative Intestinal Function Recovery and Infection in Neonates and Infants Undergoing Gastrointestinal Surgery: a Prospective, Randomised, Controlled Trial Unknown status NCT03056261
2 Gastroenteric Anastomosis With Natural Orifice Translumenal Endoscopic Surgery (NOTES) Using the New Fashionned Tissue Apposing Stent Axios® for the Treatment of Antro-pyloric or Duodenal Obstructions : Prospective Evaluation of Feasibility, Efficacy and Tolerance. Unknown status NCT02562157
3 Umblical Incision for Neonatal Surgey; is it Suitable Completed NCT03256669
4 Randomized Trial Comparing Endoscopic Ultrasound-guided Biliary Drainage (EUS-BD) and Endoscopic Retrograde Cholangiopancreatography (ERCP) for Malignant Distal Biliary Obstruction Completed NCT03054987
5 Evaluation of the Efficacy of Duodenal Prostheses Not Covered Over 6 Years Recruiting NCT03463668
6 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:

40
Pancreas, Heart, Small Intestine, Colon, Kidney, Lung, Liver

Publications for Duodenal Atresia

Articles related to Duodenal Atresia:

(show top 50) (show all 1305)
# Title Authors PMID Year
1
Familial duodenal atresia: a report of two families and review. 61 56
2688422 1989
2
Letter: Familial congenital duodenal atresia (continued). 61 56
4834311 1974
3
Familial congenital duodenal atresia. 56 61
5547883 1971
4
Familial congenital duodenal atresia. 56 61
5503698 1970
5
Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. 56
704218 1978
6
Congenital atresia and stenosis of the duodenum. A review compiled from the members of the Surgical Section of the American Academy of Pediatrics. 56
4236815 1969
7
[Pseudo Zollinger-Ellison syndrome in a patient with duodenal stenosis caused by tuberculosis]. 54 61
16505764 2005
8
Duodenal Atresia with Bifid Common Bile Duct. 61
32504618 2020
9
Relationship Between Papilla-Related Variables and Post Endoscopic Retrograde Cholangiopancreatography Pancreatitis: A Multicenter, Prospective Study. 61
32511794 2020
10
Sex differences in surgically correctable congenital anomalies: A systematic review. 61
32061363 2020
11
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
12
Obstructive jaundice caused by ulcerative duodenal stenosis: A case report. 61
32246671 2020
13
Update on Pregnancy after Heart Transplantation. 61
32464898 2020
14
Genetic counseling for fetal gastrointestinal anomalies. 61
32039977 2020
15
Clinical data and Pediatric Quality of Life Inventory (PedsQL™) scores for children with duodenal atresia. 61
32055666 2020
16
Congenital duodenal obstruction in the UK: a population-based study. 61
31229958 2020
17
Successful biliary self-expandable metallic stenting using an ultra-slim endoscope for cholangitis caused by pancreatic cancer. 61
31585497 2020
18
Potential Benefits of Laparoscopic Repair of Duodenal Atresia: Insights from a Retrospective Comparative Study. 61
31707729 2020
19
A rare combination of MODY5 and duodenal atresia in a patient: a case report. 61
32028929 2020
20
Association of multiple patient and disease characteristics with the presence and type of pain in chronic pancreatitis. 61
31314128 2020
21
Upper Gastrointestinal Bleed in a Young Male- A Rare Presentation of Eosinophilic Gastroenteritis. 61
32219053 2020
22
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
23
Antenatal ultrasonography depicting congenital high airway obstruction syndrome with duodenal atresia. 61
32528207 2020
24
Fatal Course of a Male Newborn with Double Duodenal Atresia. 61
32042546 2020
25
The Role of Fibroblast Growth Factor 10 Signaling in Duodenal Atresia. 61
32210824 2020
26
The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies. 61
31167209 2020
27
Feeding problems and gastrointestinal diseases in Down syndrome. 61
31784293 2020
28
[Contrast-Enhanced Ultrasound as a Diagnostic Tool in Diseases of the Digestive Tract]. 61
32517600 2020
29
Duodenal Stenosis Due to Carcinoma of the Lower Bile Duct: A Case Report. 61
32425628 2020
30
Impact of Intravenous Omega-3-Enriched Lipid Emulsion on Liver Enzyme and Triglyceride Serum Levels of Children Undergoing Gastrointestinal Surgery. 61
31988880 2020
31
Primary Duodenal Adenocarcinoma: Uncommon Tumor, Uncommon Presentation. A Case Report and Review of the Literature. 61
32523384 2020
32
Duodenal Crohn's Disease Complicated by Pancreatitis and Common Bile Duct Obstruction. 61
31970238 2020
33
Development and Preliminary Validation of a Rabbit Model of Duodenal Atresia for Training in Pediatric Surgical Skills. 61
31603039 2019
34
Narrow Band Imaging in Pediatric Patient With Portal Hypertension and Duodenal Stenosis. 61
30889121 2019
35
Quality of life outcomes in children born with duodenal atresia. 61
31955988 2019
36
Feeding Outcomes in Neonates With Trisomy 21 and Duodenal Atresia. 61
31279999 2019
37
Endoscopic balloon dilation in duodenal stenosis secondary to intestinal lymphoma in a heart transplant patient. 61
31595759 2019
38
Predictors of Bowel Resection During Nonelective Ladd Procedure for Pediatric Malrotation. 61
31279268 2019
39
False-negative Hepatobiliary Scintigraphy for Biliary Atresia. 61
31723366 2019
40
Robotic duodeno-duodenostomy creation in a pediatric patient with idiopathic duodenal stricture. 61
30406381 2019
41
Duodenal Atresia Repair Using a Miniature Stapler Compared to Laparoscopic Hand-Sewn and Open Technique. 61
31150305 2019
42
Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula. 61
31103274 2019
43
Gastrointestinal disorders in Down syndrome. 61
31183986 2019
44
Duodenal atresia with familial apple peel syndrome: case study with review of literature. 61
31451461 2019
45
Congenital or acquired? Obstructive jaundice in reoperated duodenal atresia. 61
31466956 2019
46
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. 61
31074124 2019
47
Endovascular Repair of Inflammatory Aortic Aneurysms: Experience in a Single Center. 61
30735769 2019
48
Clinical characteristics and pregnancy outcomes of new onset epilepsy during pregnancy. 61
31277117 2019
49
Outcome of Management of Neonatal Intestinal Obstruction at a Tertiary Center in Nigeria. 61
31579370 2019
50
Non-steroidal anti-inflammatory drugs caused duodenal stenosis. 61
31304732 2019

Variations for Duodenal Atresia

ClinVar genetic disease variations for Duodenal Atresia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFTR NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)deletion Pathogenic 7105 rs113993960 7:117199645-117199647 7:117559591-117559593
2 GUCY2C NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)SNV Pathogenic 375380 rs1057519441 12:14836177-14836177 12:14683243-14683243

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 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 RFX6 MYCN HNF1B FOXF1 FGF10
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 TEF RFX6 MYCN ITGA6 HNF1B FOXF1
3 extracellular matrix organization GO:0030198 9.73 ITGA6 FOXF1 FBN2 COL5A1
4 lung development GO:0030324 9.69 FOXF1 FGF10 ALDH1A2
5 limb morphogenesis GO:0035108 9.57 FGF10 FBN2
6 lung morphogenesis GO:0060425 9.56 FOXF1 FGF10
7 hindbrain development GO:0030902 9.55 HNF1B ALDH1A2
8 epithelial tube branching involved in lung morphogenesis GO:0060441 9.52 FOXF1 FGF10
9 blood vessel development GO:0001568 9.5 FOXF1 COL5A1 ALDH1A2
10 smooth muscle cell differentiation GO:0051145 9.49 FOXF1 FGF10
11 epithelial cell proliferation GO:0050673 9.48 HNF1B FGF10
12 embryonic camera-type eye development GO:0031076 9.46 FGF10 ALDH1A2
13 midgut development GO:0007494 9.4 FOXF1 ALDH1A2
14 embryonic digestive tract morphogenesis GO:0048557 9.33 HNF1B FOXF1 FGF10
15 intracellular pH reduction GO:0051452 9.26 GPR89B GPR89A
16 pancreas development GO:0031016 9.26 HNF1B FOXF1 FGF10 ALDH1A2
17 embryonic digestive tract development GO:0048566 8.92 SCT FOXF1 FGF10 ALDH1A2

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

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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