MCID: DDN011
MIFTS: 49

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 Cell Differentiation Pathways and Lineage-specific Markers and Regulation of beta-cell development. The drugs Anesthetics and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include pancreas, heart and kidney, and related phenotypes are polyhydramnios and duodenal atresia

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 229)
# Related Disease Score Top Affiliating Genes
1 feingold syndrome 1 33.3 RNU4ATAC MYCN FOXF1
2 pancreas, annular 33.3 TEF RFX6 FOXF1
3 esophageal atresia 31.1 TEF MYCN FOXF1
4 chromosomal triplication 30.9 PAPPA AFP
5 volvulus of midgut 30.6 GUCY2C FOXF1
6 polyhydramnios 30.5 TEF HNF1B AFP
7 intestinal atresia 30.4 TEF RNU4ATAC RFX6 FOXF1 FGF10
8 meconium ileus 30.3 GUCY2C CFTR C12orf60
9 diaphragmatic hernia, congenital 30.3 TEF FOXF1 FGF10
10 hernia, hiatus 30.3 TEF FOXF1
11 recurrent acute pancreatitis 30.1 SCT CFTR
12 cystic lymphangioma 29.7 PAPPA AFP
13 duodenal atresia tetralogy of fallot 12.4
14 stromme syndrome 11.5
15 pancreatic lipomatosis duodenal stenosis 11.4
16 feingold syndrome 2 11.4
17 duodenal obstruction 10.5
18 down syndrome 10.5
19 diarrhea 6 10.5 GUCY2C C12orf60
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 biliary dyskinesia 10.3 SCT CFTR
25 bile duct cysts 10.3
26 situs inversus 10.3
27 diarrhea 4, malabsorptive, congenital 10.3 SCT RFX6
28 tracheomalacia 10.3 TEF FGF10
29 polycystic kidney disease 1 with or without polycystic liver disease 10.2 SCT HNF1B CFTR
30 triploidy 10.2 PAPPA AFP
31 biliary atresia 10.2
32 intermediate malignant teratoma 10.2 PAPPA AFP
33 jejunal atresia 10.1
34 microcephaly 10.1
35 physical disorder 10.1 RNU4ATAC FGF10 AFP
36 pancreatic cancer 10.1
37 gastroesophageal reflux 10.1
38 renal hypodysplasia/aplasia 1 10.1
39 gastritis 10.1
40 peptic ulcer disease 10.1
41 peritonitis 10.1
42 dextrocardia 10.1
43 orofaciodigital syndrome viii 10.1 TEF PAPPA AFP
44 oligohydramnios 10.0 PAPPA HNF1B AFP
45 gallbladder cancer 10.0
46 crohn's disease 10.0
47 aneurysm 10.0
48 anus, imperforate 10.0
49 polydactyly 10.0
50 cholelithiasis 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 8.92 FGF10 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 9.93 CFTR COL5A1 FBN2 FGF10 FMO5 GPR89B
2 digestive/alimentary MP:0005381 9.8 CFTR FGF10 FOXF1 GUCY2C ITGA6 MYCN
3 homeostasis/metabolism MP:0005376 9.73 AFP CFTR FBN2 FGF10 FMO5 GPR89B
4 mortality/aging MP:0010768 9.44 AFP CFTR COL5A1 FBN2 FGF10 FOXF1

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
2 Central Nervous System Depressants

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 Not yet 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 29
2 Duodenal Stenosis 29

Anatomical Context for Duodenal Atresia

MalaCards organs/tissues related to Duodenal Atresia:

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

Publications for Duodenal Atresia

Articles related to Duodenal Atresia:

(show top 50) (show all 1289)
# 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. 61 56
5547883 1971
4
Familial congenital duodenal atresia. 61 56
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
Association of multiple patient and disease characteristics with the presence and type of pain in chronic pancreatitis. 61
31314128 2020
9
Genetic counseling for fetal gastrointestinal anomalies. 61
32039977 2020
10
A rare combination of MODY5 and duodenal atresia in a patient: a case report. 61
32028929 2020
11
Duodenal Crohn's Disease Complicated by Pancreatitis and Common Bile Duct Obstruction. 61
31970238 2020
12
The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies. 61
31167209 2020
13
Feeding problems and gastrointestinal diseases in Down syndrome. 61
31784293 2020
14
Impact of Intravenous Omega-3-Enriched Lipid Emulsion on Liver Enzyme and Triglyceride Serum Levels of Children Undergoing Gastrointestinal Surgery. 61
31988880 2020
15
Development and Preliminary Validation of a Rabbit Model of Duodenal Atresia for Training in Pediatric Surgical Skills. 61
31603039 2019
16
Narrow Band Imaging in Pediatric Patient With Portal Hypertension and Duodenal Stenosis. 61
30889121 2019
17
Feeding Outcomes in Neonates With Trisomy 21 and Duodenal Atresia. 61
31279999 2019
18
Quality of life outcomes in children born with duodenal atresia. 61
31955988 2019
19
Potential Benefits of Laparoscopic Repair of Duodenal Atresia: Insights from a Retrospective Comparative Study. 61
31707729 2019
20
Endoscopic balloon dilation in duodenal stenosis secondary to intestinal lymphoma in a heart transplant patient. 61
31595759 2019
21
Predictors of Bowel Resection During Nonelective Ladd Procedure for Pediatric Malrotation. 61
31279268 2019
22
False-negative Hepatobiliary Scintigraphy for Biliary Atresia. 61
31723366 2019
23
Robotic duodeno-duodenostomy creation in a pediatric patient with idiopathic duodenal stricture. 61
30406381 2019
24
Duodenal Atresia Repair Using a Miniature Stapler Compared to Laparoscopic Hand-Sewn and Open Technique. 61
31150305 2019
25
Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula. 61
31103274 2019
26
Gastrointestinal disorders in Down syndrome. 61
31183986 2019
27
Duodenal atresia with familial apple peel syndrome: case study with review of literature. 61
31451461 2019
28
Congenital or acquired? Obstructive jaundice in reoperated duodenal atresia. 61
31466956 2019
29
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
30
Endovascular Repair of Inflammatory Aortic Aneurysms: Experience in a Single Center. 61
30735769 2019
31
Clinical characteristics and pregnancy outcomes of new onset epilepsy during pregnancy. 61
31277117 2019
32
Outcome of Management of Neonatal Intestinal Obstruction at a Tertiary Center in Nigeria. 61
31579370 2019
33
Non-steroidal anti-inflammatory drugs caused duodenal stenosis. 61
31304732 2019
34
Atypical Presentation of Duodenal Atresia Concomitant with Type-A Esophageal Atresia in Fetal Life: A Case Report. 61
31250423 2019
35
Congenital Duodenal Stenosis: Prenatal Evaluation by Three-dimensional Ultrasound HDlive Silhouette Mode, Magnetic Resonance Imaging, and Postnatal Outcomes. 61
31867180 2019
36
Colorectal neuroendocrine carcinoma: A case report and review of the literature. 61
31417933 2019
37
Epidemiology and Outcome of Major Congenital Malformations in a Large German County. 61
29715697 2019
38
Gastrointestinal Hormones Manipulation to Counteract Metabolic Syndrome Using Duodenal Targeted Embolization. 61
30920898 2019
39
[Duodenal obstruction and upper gastrointestinal bleeding as the initial presentation of an isolated duodenal tuberculosis]. 61
31859760 2019
40
Congenital duodenal obstruction in the UK: a population-based study. 61
31229958 2019
41
Diagnostic value of the acute angle between the prestenotic and poststenotic duodenum in neonatal annular pancreas. 61
30617479 2019
42
LATE THIRD TRIMESTER ULTRASOUND DIAGNOSIS OF DUODENAL ATRESIA - THE IMPORTANCE OF DETAILED PRENATAL ULTRASOUND SCREENING. 61
31768160 2019
43
Laparoscopic reconstruction of double duodenal atresia in a neonate: Novel procedure. 61
31099096 2019
44
Delayed Initiation of Hemodialysis in Pregnant Women with Chronic Kidney Disease: Logistical Problems Impact Clinical Outcomes. An Experience from an Emerging Country. 61
30965626 2019
45
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. 61
29704686 2019
46
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. 61
30386906 2019
47
Hemorrhage from Umbilical Cord Ulceration Identified on Real-Time Ultrasound in a Fetus with Duodenal Atresia. 61
30906606 2019
48
Encysted hydrocele of the canal of Nuck in an 11-month-old child with a past history of duodenal atresia and Arnold-Chiari malformation: A case report. 61
30681605 2019
49
Fish consumption in early pregnancy and congenital gastrointestinal tract atresia in the Japan Environment and Children's Study. 61
30370875 2019
50
Umbilical Cord Ulcer and Intrauterine Death in Fetal Intestinal Atresia. 61
30870842 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 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.91 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 9.71 ITGA6 FOXF1 FBN2 COL5A1
4 limb morphogenesis GO:0035108 9.54 FGF10 FBN2
5 lung morphogenesis GO:0060425 9.52 FOXF1 FGF10
6 digestive tract development GO:0048565 9.5 ITGA6 FOXF1 FGF10
7 epithelial tube branching involved in lung morphogenesis GO:0060441 9.49 FOXF1 FGF10
8 smooth muscle cell differentiation GO:0051145 9.48 FOXF1 FGF10
9 epithelial cell proliferation GO:0050673 9.46 HNF1B FGF10
10 renal system development GO:0072001 9.43 ITGA6 FOXF1
11 pancreas development GO:0031016 9.33 HNF1B FOXF1 FGF10
12 intracellular pH reduction GO:0051452 9.26 GPR89B GPR89A
13 embryonic digestive tract development GO:0048566 9.13 SCT FOXF1 FGF10
14 embryonic digestive tract morphogenesis GO:0048557 8.8 HNF1B 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

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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