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 57 12 75 53 59 29 6 15
Duodenal Stenosis 53 29 55 6
Familial Duodenal Atresia 44

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:

Disease Ontology 12 DOID:0080216
OMIM 57 223400
MeSH 44 C535720
MESH via Orphanet 45 C535720
ICD10 via Orphanet 34 Q41.0
UMLS via Orphanet 73 C0266174
Orphanet 59 ORPHA1203
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: 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 intestinal obstruction and meconium ileus. 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, small intestine and heart, and related phenotypes are polyhydramnios and duodenal atresia

Wikipedia : 75 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 224)
# Related Disease Score Top Affiliating Genes
1 intestinal obstruction 30.8 GUCY2C CFTR
2 meconium ileus 30.2 GUCY2C CFTR
3 recurrent acute pancreatitis 29.7 SCT CFTR
4 exocrine pancreatic insufficiency 29.7 SCT CFTR
5 steatorrhea 29.6 SCT CFTR
6 alcoholic pancreatitis 29.6 SCT CFTR
7 diaphragmatic hernia, congenital 29.6 TEF FGF10
8 duodenal atresia tetralogy of fallot 12.4
9 feingold syndrome 1 12.0
10 pancreas, annular 11.9
11 stromme syndrome 11.5
12 pancreatic lipomatosis duodenal stenosis 11.4
13 feingold syndrome 2 11.4
14 duodenal obstruction 10.5
15 esophageal atresia 10.5
16 down syndrome 10.5
17 tracheoesophageal fistula with or without esophageal atresia 10.5
18 chromosomal triplication 10.4
19 tracheoesophageal fistula 10.4
20 intestinal atresia 10.3
21 secretory diarrhea 10.3 GUCY2C CFTR
22 situs inversus 10.3
23 bile duct cysts 10.2
24 obstructive jaundice 10.2
25 biliary atresia 10.2
26 intestinal volvulus 10.2
27 polyhydramnios 10.1
28 microcephaly 10.1
29 pancreatic cancer 10.1
30 gastroesophageal reflux 10.1
31 renal hypodysplasia/aplasia 1 10.1
32 jejunal atresia 10.1
33 gastritis 10.1
34 peptic ulcer disease 10.1
35 peritonitis 10.1
36 dextrocardia 10.1
37 alveolar capillary dysplasia 10.1
38 esophageal atresia/tracheoesophageal fistula 10.1 TEF FGF10
39 pancreatic agenesis 1 10.0 SCT CFTR
40 gallbladder cancer 10.0
41 crohn's disease 10.0
42 aneurysm 10.0
43 hernia, hiatus 10.0
44 anus, imperforate 10.0
45 polydactyly 10.0
46 gastrointestinal ulceration, recurrent, with dysfunctional platelets 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:

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

Symptoms via clinical synopsis from OMIM:

57
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 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.1 COL5A1 FGF10 GUCY2C ITGA6 RFX6 TEF

MGI Mouse Phenotypes related to Duodenal Atresia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CDON COL5A1 FGF10 GUCY2C ITGA6 TEF
2 digestive/alimentary MP:0005381 9.8 CDON CFTR FGF10 GUCY2C ITGA6 RFX6
3 growth/size/body region MP:0005378 9.76 CDON CFTR COL5A1 FGF10 GUCY2C HNF1B
4 embryo MP:0005380 9.65 CDON COL5A1 FGF10 HNF1B ITGA6
5 mortality/aging MP:0010768 9.61 CDON CFTR COL5A1 FGF10 GUCY2C HNF1B
6 vision/eye MP:0005391 9.02 CDON CFTR COL5A1 FGF10 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
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

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:

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

Publications for Duodenal Atresia

Articles related to Duodenal Atresia:

(show top 50) (show all 1273)
# Title Authors PMID Year
1
Familial duodenal atresia: a report of two families and review. 38 8
2688422 1989
2
Letter: Familial congenital duodenal atresia (continued). 38 8
4834311 1974
3
Familial congenital duodenal atresia. 38 8
5547883 1971
4
Familial congenital duodenal atresia. 38 8
5503698 1970
5
Pyloroduodenal atresia (diaphragm type): an autosomal recessive disease. 8
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. 8
4236815 1969
7
[Pseudo Zollinger-Ellison syndrome in a patient with duodenal stenosis caused by tuberculosis]. 9 38
16505764 2005
8
Gastrointestinal disorders in Down syndrome. 38
31183986 2019
9
Clinical characteristics and pregnancy outcomes of new onset epilepsy during pregnancy. 38
31277117 2019
10
Endovascular Repair of Inflammatory Aortic Aneurysms: Experience in a Single Center. 38
30735769 2019
11
Atypical Presentation of Duodenal Atresia Concomitant with Type-A Esophageal Atresia in Fetal Life: A Case Report. 38
31250423 2019
12
Feeding Outcomes in Neonates With Trisomy 21 and Duodenal Atresia. 38
31279999 2019
13
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. 38
31074124 2019
14
Colorectal neuroendocrine carcinoma: A case report and review of the literature. 38
31417933 2019
15
Predictors of Bowel Resection During Nonelective Ladd Procedure for Pediatric Malrotation. 38
31279268 2019
16
Non-steroidal anti-inflammatory drugs caused duodenal stenosis. 38
31304732 2019
17
Association of multiple patient and disease characteristics with the presence and type of pain in chronic pancreatitis. 38
31314128 2019
18
Congenital duodenal obstruction in the UK: a population-based study. 38
31229958 2019
19
The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies. 38
31167209 2019
20
Epidemiology and Outcome of Major Congenital Malformations in a Large German County. 38
29715697 2019
21
Diagnostic value of the acute angle between the prestenotic and poststenotic duodenum in neonatal annular pancreas. 38
30617479 2019
22
Gastrointestinal Hormones Manipulation to Counteract Metabolic Syndrome Using Duodenal Targeted Embolization. 38
30920898 2019
23
Outcomes of multi-gestational pregnancies affected by esophageal atresia - tracheoesophageal fistula. 38
31103274 2019
24
Duodenal Atresia Repair Using a Miniature Stapler Compared to Laparoscopic Hand-Sewn and Open Technique. 38
31150305 2019
25
Laparoscopic reconstruction of double duodenal atresia in a neonate: Novel procedure. 38
31099096 2019
26
Delayed Initiation of Hemodialysis in Pregnant Women with Chronic Kidney Disease: Logistical Problems Impact Clinical Outcomes. An Experience from an Emerging Country. 38
30965626 2019
27
Umbilical Cord Ulcer and Intrauterine Death in Fetal Intestinal Atresia. 38
30870842 2019
28
Narrow Band Imaging in Pediatric Patient with Portal Hypertension and Duodenal Stenosis. 38
30889121 2019
29
Fish consumption in early pregnancy and congenital gastrointestinal tract atresia in the Japan Environment and Children's Study. 38
30370875 2019
30
Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6. 38
31275908 2019
31
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. 38
29704686 2019
32
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. 38
30386906 2019
33
Hemorrhage from Umbilical Cord Ulceration Identified on Real-Time Ultrasound in a Fetus with Duodenal Atresia. 38
30906606 2019
34
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. 38
30681605 2019
35
Endoscopic Management of Combined Biliary and Duodenal Obstruction. 38
30626177 2019
36
Extreme Metabolic Alkalosis and Acute Kidney Injury in a 38-Year-Old Male Patient. 38
30662230 2018
37
Maternal genitourinary infections and risk of birth defects in the National Birth Defects Prevention Study. 38
30402975 2018
38
Robotic duodeno-duodenostomy creation in a pediatric patient with idiopathic duodenal stricture. 38
30406381 2018
39
XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations. 38
30146668 2018
40
The Case for Simulation-Based Mastery Learning Education Courses for Practicing Surgeons. 38
29641367 2018
41
Severe duodenal stenosis due to rupture of pancreaticoduodenal artery aneurysm. 38
30214798 2018
42
Conversion surgery for an initially unresectable, locally advanced pancreatic cancer after induction chemotherapy and carbon-ion radiotherapy: a case report. 38
30203372 2018
43
A case of duodenal malignant lymphoma presenting as acute pancreatitis: systemic lupus erythematosus and immunosuppressive therapy as risk factors. 38
29546569 2018
44
Duodenal and Bile Duct Narrowing Due to Partial Annular Pancreas: A Rare Association. 38
31331147 2018
45
[Clinical Features and Outcomes of Paraduodenal Pancreatitis]. 38
29978787 2018
46
Different pattern of risk factors for post-ERCP pancreatitis in patients with biliary stricture. 38
29117728 2018
47
[Experience in treatment of complex congenital intestinal atresia in children]. 38
30226325 2018
48
A newborn patient with both annular pancreas and Meckel's diverticulum: A case report of an unusual association. 38
29703052 2018
49
The Surgical Outcomes of Totally Laparoscopic Stomach-partitioning Gastrojejunostomy for Gastric Outlet Obstruction: A Retrospective, Cohort Study. 38
29252935 2018
50
Advanced minimal access surgery in infants weighing less than 3kg: A single center experience. 38
28549685 2018

Variations for Duodenal Atresia

ClinVar genetic disease variations for Duodenal Atresia:

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

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 odontogenesis of dentin-containing tooth GO:0042475 9.49 ITGA6 FGF10
2 skin development GO:0043588 9.48 ITGA6 COL5A1
3 digestive tract development GO:0048565 9.46 ITGA6 FGF10
4 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.43 RFX6 CFTR
5 pancreas development GO:0031016 9.4 HNF1B FGF10
6 branching morphogenesis of an epithelial tube GO:0048754 9.37 HNF1B FGF10
7 embryonic digestive tract morphogenesis GO:0048557 9.32 HNF1B FGF10
8 embryonic digestive tract development GO:0048566 9.26 SCT FGF10
9 embryonic morphogenesis GO:0048598 9.16 HNF1B CDON
10 positive regulation of transcription by RNA polymerase II GO:0045944 9.1 TEF RFX6 ITGA6 HNF1B FGF10 CDON
11 epithelial cell proliferation GO:0050673 8.96 HNF1B FGF10

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.62 ITGA6 HNF1B

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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