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 57 12 76 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:

OMIM 57 223400
Disease Ontology 12 DOID:0080216
MeSH 44 C535720
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 meconium ileus and exocrine pancreatic insufficiency. 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, lung and heart, and related phenotypes are polyhydramnios and abnormality of the pulmonary artery

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 98)
# Related Disease Score Top Affiliating Genes
1 meconium ileus 29.9 CFTR GUCY2C
2 exocrine pancreatic insufficiency 29.7 CFTR SCT
3 intestinal obstruction 29.7 CFTR GUCY2C
4 recurrent acute pancreatitis 29.7 CFTR SCT
5 diaphragmatic hernia, congenital 29.3 FGF10 TEF
6 duodenal atresia tetralogy of fallot 12.2
7 pancreas, annular 11.8
8 feingold syndrome 1 11.8
9 stromme syndrome 11.4
10 pancreatic lipomatosis duodenal stenosis 11.2
11 solitary median maxillary central incisor 11.2
12 feingold syndrome 2 11.2
13 tracheoesophageal fistula with or without esophageal atresia 10.3
14 esophageal atresia 10.3
15 tracheoesophageal fistula 10.2
16 situs inversus 10.2
17 secretory diarrhea 10.1 CFTR GUCY2C
18 bile duct cysts 10.1
19 pancreatic agenesis 1 10.1 CFTR SCT
20 microcephaly 10.0
21 biliary atresia 10.0
22 alveolar capillary dysplasia 10.0
23 steatorrhea 10.0 CFTR SCT
24 alcoholic pancreatitis 10.0 CFTR SCT
25 maturity-onset diabetes of the young, type 7 10.0 HNF1B SCT
26 down syndrome 10.0
27 intestinal atresia 10.0
28 pancreatitis 10.0
29 peritonitis 10.0
30 esophageal atresia/tracheoesophageal fistula 9.9 FGF10 TEF
31 pancreas disease 9.9 CFTR SCT
32 crohn's disease 9.9
33 retroperitoneal fibrosis 9.9
34 diaphragm disease 9.9 FGF10 TEF
35 cystic fibrosis 9.8 CFTR GUCY2C SCT
36 ehlers-danlos syndrome, classic type, 2 9.8
37 hemifacial microsomia with radial defects 9.8
38 holt-oram syndrome 9.8
39 intussusception 9.8
40 hemifacial microsomia 9.8
41 tetralogy of fallot 9.8
42 vater/vacterl association 9.8
43 anus, imperforate 9.8
44 jejunal atresia 9.8
45 lung agenesis 9.8
46 pyloric atresia 9.8
47 coats disease 9.8
48 polydactyly 9.8
49 diabetes mellitus, permanent neonatal 9.8
50 diabetes mellitus 9.8

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
G I:
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 abnormality of the pulmonary artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0004414
3 annular pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001734
4 duodenal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002247
5 abnormality of the pancreas 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Duodenal Atresia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 CDON COL5A1 FGF10 GUCY2C ITGA6 TEF
2 growth/size/body region MP:0005378 9.86 CDON CFTR COL5A1 FGF10 GUCY2C HNF1B
3 digestive/alimentary MP:0005381 9.85 CDON CFTR FGF10 GUCY2C ITGA6 NKX3-2
4 mortality/aging MP:0010768 9.81 CDON CFTR COL5A1 FGF10 GUCY2C HNF1B
5 craniofacial MP:0005382 9.8 CDON CFTR FGF10 ITGA6 NKX3-2
6 embryo MP:0005380 9.8 CDON COL5A1 FGF10 HNF1B ITGA6 NKX3-2
7 respiratory system MP:0005388 9.35 CDON CFTR FGF10 ITGA6 NKX3-2
8 vision/eye MP:0005391 9.02 CDON CFTR COL5A1 FGF10 ITGA6

Drugs & Therapeutics for Duodenal Atresia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endoscopic Gastroenteric Anastomosis With New Tissue Apposing Stent in the Management of Antro-pyloroduodenal Obstruction : Evaluation of Feasibility, Efficacy and Tolerance. Unknown status NCT02562157 Not Applicable
2 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 Stenosis 29
2 Duodenal Atresia 29

Anatomical Context for Duodenal Atresia

MalaCards organs/tissues related to Duodenal Atresia:

41
Pancreas, Lung, Heart, Small Intestine, Kidney, Liver, B Cells

Publications for Duodenal Atresia

Articles related to Duodenal Atresia:

(show top 50) (show all 339)
# 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
Biliary Tract Abnormalities as a Cause of Distal Bowel Gas in Neonatal Duodenal Atresia. ( 30046504 )
2018
4
XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations. ( 30146668 )
2018
5
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. ( 30386906 )
2018
6
FGF10 and the Mystery of Duodenal Atresia in Humans. ( 30473704 )
2018
7
Severe duodenal stenosis due to rupture of pancreaticoduodenal artery aneurysm. ( 30214798 )
2018
8
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
9
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. ( 28588837 )
2017
10
Duodenal Atresia: Open versus MIS Repair-Analysis of Our Experience over the Last 12 Years. ( 28326320 )
2017
11
Prenatal sonographic diagnosis of meconium peritonitis from duodenal atresia. ( 28159774 )
2017
12
Laparoscopic Repair of Duodenal Atresia: Systematic Review and Meta-Analysis. ( 28258456 )
2017
13
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
14
Duodenal Atresia And Stenosis ( 29261981 )
2017
15
Detection of an Infant's Duodenal Atresia by Milk Scan. ( 28060781 )
2017
16
Is selective echocardiography in duodenal atresia the future standard of care? ( 28919320 )
2017
17
Transumbilical Surgery for Duodenal Stenosis in a Child with Situs Inversus: The First Report. ( 28386502 )
2017
18
Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient. ( 27170921 )
2016
19
Laparoscopic duodenoduodenostomy with parallel anastomosis for duodenal atresia. ( 27655378 )
2016
20
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. ( 27695215 )
2016
21
Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report. ( 27896168 )
2016
22
Duodeno-duodenostomy or duodeno-jejunostomy for duodenal atresia: is one repair better than the other? ( 27858187 )
2016
23
Gastric Duplication Cyst in Association with Duodenal Atresia in a Neonate. ( 26816679 )
2016
24
Postoperative Gastric Perforation in a Newborn with Duodenal Atresia. ( 27896170 )
2016
25
How to treat a neonate with duodenal atresia and intrapancreatic choledochocele causing persistent hyperbilirubinemia: A case report. ( 26701845 )
2016
26
Duodenal atresia with apple-peel configuration of the ileum and absent superior mesenteric artery. ( 27596226 )
2016
27
A case report of laparoscopic duodenal atresia repair in a neonate using a novel miniature stapling device. ( 27898353 )
2016
28
Gallbladder carcinoma - a rare cause of pyloric-duodenal stenosis. ( 28002540 )
2016
29
Triple bypass for advanced pancreatic head cancer associated with biliary stricture, duodenal stenosis, and recurrent obstructive pancreatitis. ( 27495991 )
2016
30
Simultaneous duodenal stenosis and duodenal web in a newborn. ( 27920877 )
2016
31
Laparoscopic management of congenital duodenal atresia or stenosis: A single-center early experience. ( 26093906 )
2015
32
Evaluation of three sources of validity evidence for a laparoscopic duodenal atresia repair simulator. ( 25536230 )
2015
33
Non-classified type duodenal atresia: case report. ( 28058374 )
2015
34
Defective upper gastrointestinal function after repair of combined esophageal and duodenal atresia. ( 25840057 )
2015
35
An Unusual Presentation of Congenital Esophageal Stenosis Due to Tracheobronchial Remnants in a Newborn Prenatally Diagnosed with Duodenal Atresia. ( 30039104 )
2015
36
A newly designed stent for management of malignant distal duodenal stenosis. ( 24798136 )
2015
37
A 15-month-old boy with congenital duodenal stenosis due to food impaction. ( 25651381 )
2015
38
Gastroscopic treatment of membranous duodenal stenosis in infants and children: report of 6 cases. ( 25746699 )
2015
39
Groove pancreatitis with duodenal stenosis: A case report. ( 26644107 )
2015
40
Gastrojejunostomy without partial gastrectomy to manage duodenal stenosis in a dog. ( 26824343 )
2015
41
Duodenal atresia: not always a double bubble. ( 24557485 )
2014
42
Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome. ( 25256560 )
2014
43
Recurrent duodenal atresia: a case report. ( 25330697 )
2014
44
Management of patients with combined tracheoesophageal fistula, esophageal atresia, and duodenal atresia. ( 25460495 )
2014
45
Duodenal atresia. ( 26023485 )
2014
46
Coexistence of meconium ileus with duodenal atresia and trisomy 21 in a newborn: a case report. ( 25359414 )
2014
47
Laparoscopic repair of duodenal atresia in a low birth weight neonate. ( 25197863 )
2014
48
A case of duodenal atresia with apple peel appearance: challenging the current embryology. ( 25024980 )
2014
49
Congenital Pyloric Atresia with Distal Duodenal Atresia- Role of CT Scan. ( 26023508 )
2014
50
Pyloric exclusion for treatment of complicated duodenal atresia. ( 24556975 )
2014

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 10.92 CFTR FGF10 HNF1B

GO Terms for Duodenal Atresia

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 CDON FGF10 HNF1B ITGA6 TEF
2 determination of left/right symmetry GO:0007368 9.52 FGF10 NKX3-2
3 odontogenesis of dentin-containing tooth GO:0042475 9.51 FGF10 ITGA6
4 skin development GO:0043588 9.49 COL5A1 ITGA6
5 digestive tract development GO:0048565 9.48 FGF10 ITGA6
6 spleen development GO:0048536 9.46 FGF10 NKX3-2
7 branching morphogenesis of an epithelial tube GO:0048754 9.43 FGF10 HNF1B
8 embryonic digestive tract development GO:0048566 9.37 FGF10 SCT
9 embryonic digestive tract morphogenesis GO:0048557 9.32 FGF10 HNF1B
10 embryonic morphogenesis GO:0048598 9.26 CDON HNF1B
11 epithelial cell proliferation GO:0050673 9.16 FGF10 HNF1B
12 animal organ formation GO:0048645 8.96 FGF10 NKX3-2
13 pancreas development GO:0031016 8.8 FGF10 HNF1B NKX3-2

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 8.8 CFTR HNF1B 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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