MCID: DDN011
MIFTS: 46

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 58 12 77 54 60 30 6 15
Duodenal Stenosis 54 30 56 6
Familial Duodenal Atresia 45

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
duodenal atresia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080216
OMIM 58 223400
MeSH 45 C535720
MESH via Orphanet 46 C535720
ICD10 via Orphanet 35 Q41.0
UMLS via Orphanet 75 C0266174
Orphanet 60 ORPHA1203
MedGen 43 C0266174

Summaries for Duodenal Atresia

NIH Rare Diseases : 54 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, heart and lung, and related phenotypes are polyhydramnios and duodenal atresia

Wikipedia : 77 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 107)
# Related Disease Score Top Affiliating Genes
1 meconium ileus 29.9 CFTR GUCY2C
2 exocrine pancreatic insufficiency 29.7 CFTR SCT
3 recurrent acute pancreatitis 29.7 CFTR SCT
4 intestinal obstruction 29.7 CFTR GUCY2C
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 feingold syndrome 2 11.3
11 pancreatic lipomatosis duodenal stenosis 11.3
12 tracheoesophageal fistula with or without esophageal atresia 10.3
13 esophageal atresia 10.3
14 tracheoesophageal fistula 10.2
15 situs inversus 10.2
16 secretory diarrhea 10.1 CFTR GUCY2C
17 down syndrome 10.1
18 bile duct cysts 10.1
19 intestinal volvulus 10.1
20 biliary atresia 10.1
21 microcephaly 10.1
22 alveolar capillary dysplasia 10.1
23 pancreatic agenesis 1 10.1 CFTR SCT
24 steatorrhea 10.0 CFTR SCT
25 alcoholic pancreatitis 10.0 CFTR SCT
26 maturity-onset diabetes of the young, type 7 10.0 HNF1B SCT
27 intestinal atresia 10.0
28 pancreatitis 10.0
29 peritonitis 10.0
30 chromosomal triplication 10.0
31 esophageal atresia/tracheoesophageal fistula 10.0 FGF10 TEF
32 crohn's disease 9.9
33 retroperitoneal fibrosis 9.9
34 pancreas disease 9.9 CFTR SCT
35 diaphragm disease 9.9 FGF10 TEF
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 chiari malformation type ii 9.8
45 jejunal atresia 9.8
46 lung agenesis 9.8
47 pyloric atresia 9.8
48 coats disease 9.8
49 gallbladder disease 1 9.8
50 polydactyly 9.8

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polyhydramnios 60 33 hallmark (90%) Very frequent (99-80%) HP:0001561
2 duodenal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002247
3 abnormality of the pulmonary artery 60 33 occasional (7.5%) Occasional (29-5%) HP:0004414
4 annular pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001734
5 abnormality of the pancreas 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
G I:
duodenal atresia

Clinical features from OMIM:

223400

MGI Mouse Phenotypes related to Duodenal Atresia:

47
# 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 9.72 CDON CFTR FGF10 GUCY2C ITGA6
3 growth/size/body region MP:0005378 9.7 CDON CFTR COL5A1 FGF10 GUCY2C HNF1B
4 embryo MP:0005380 9.65 CDON COL5A1 FGF10 HNF1B ITGA6
5 mortality/aging MP:0010768 9.56 CDON CFTR COL5A1 FGF10 GUCY2C HNF1B
6 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 Atresia 30
2 Duodenal Stenosis 30

Anatomical Context for Duodenal Atresia

MalaCards organs/tissues related to Duodenal Atresia:

42
Pancreas, Heart, Lung, Kidney, Colon, Small Intestine, Cervix

Publications for Duodenal Atresia

Articles related to Duodenal Atresia:

(show top 50) (show all 366)
# Title Authors Year
1
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. ( 30681605 )
2019
2
Duodenal atresia and associated intestinal atresia: a cohort study and review of the literature. ( 30386906 )
2019
3
Hemorrhage from Umbilical Cord Ulceration Identified on Real-Time Ultrasound in a Fetus with Duodenal Atresia. ( 30906606 )
2019
4
Laparoscopic reconstruction of double duodenal atresia in a neonate: Novel procedure. ( 31099096 )
2019
5
Narrow Band Imaging in Pediatric Patient with Portal Hypertension and Duodenal Stenosis. ( 30889121 )
2019
6
Double Duodenal Atresia: An Extremely Rare Presentation of Duodenal Obstruction. ( 29314383 )
2018
7
Megaduodenum in a 59-year-old man: a very late postoperative complication after duodenal atresia. ( 29351932 )
2018
8
Biliary Tract Abnormalities as a Cause of Distal Bowel Gas in Neonatal Duodenal Atresia. ( 30046504 )
2018
9
XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations. ( 30146668 )
2018
10
FGF10 and the Mystery of Duodenal Atresia in Humans. ( 30473704 )
2018
11
Severe duodenal stenosis due to rupture of pancreaticoduodenal artery aneurysm. ( 30214798 )
2018
12
An Aggressive Primary Retroperitoneal Diffuse Large B-Cell Lymphoma Mimicking a Pancreatic Neoplasm, Presenting as Duodenal Stenosis. ( 29207777 )
2017
13
Laparoscopic duodenoduodenostomy with parallel anastomosis for duodenal atresia. ( 27655378 )
2017
14
Duodeno-duodenostomy or duodeno-jejunostomy for duodenal atresia: is one repair better than the other? ( 27858187 )
2017
15
A case report of laparoscopic duodenal atresia repair in a neonate using a novel miniature stapling device. ( 27898353 )
2017
16
Detection of an Infant's Duodenal Atresia by Milk Scan. ( 28060781 )
2017
17
Prenatal sonographic diagnosis of meconium peritonitis from duodenal atresia. ( 28159774 )
2017
18
Laparoscopic Repair of Duodenal Atresia: Systematic Review and Meta-Analysis. ( 28258456 )
2017
19
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
20
Duodenal Atresia: Open versus MIS Repair-Analysis of Our Experience over the Last 12 Years. ( 28326320 )
2017
21
Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia. ( 28588837 )
2017
22
Is selective echocardiography in duodenal atresia the future standard of care? ( 28919320 )
2017
23
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
24
Transumbilical Surgery for Duodenal Stenosis in a Child with Situs Inversus: The First Report. ( 28386502 )
2017
25
Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient. ( 27170921 )
2016
26
How to treat a neonate with duodenal atresia and intrapancreatic choledochocele causing persistent hyperbilirubinemia: A case report. ( 26701845 )
2016
27
Gastric Duplication Cyst in Association with Duodenal Atresia in a Neonate. ( 26816679 )
2016
28
Duodenal atresia with apple-peel configuration of the ileum and absent superior mesenteric artery. ( 27596226 )
2016
29
Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome. ( 27695215 )
2016
30
Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report. ( 27896168 )
2016
31
Postoperative Gastric Perforation in a Newborn with Duodenal Atresia. ( 27896170 )
2016
32
Gallbladder carcinoma - a rare cause of pyloric-duodenal stenosis. ( 28002540 )
2016
33
Triple bypass for advanced pancreatic head cancer associated with biliary stricture, duodenal stenosis, and recurrent obstructive pancreatitis. ( 27495991 )
2016
34
Simultaneous duodenal stenosis and duodenal web in a newborn. ( 27920877 )
2016
35
Evaluation of three sources of validity evidence for a laparoscopic duodenal atresia repair simulator. ( 25536230 )
2015
36
Defective upper gastrointestinal function after repair of combined esophageal and duodenal atresia. ( 25840057 )
2015
37
Laparoscopic management of congenital duodenal atresia or stenosis: A single-center early experience. ( 26093906 )
2015
38
Non-classified type duodenal atresia: case report. ( 28058374 )
2015
39
An Unusual Presentation of Congenital Esophageal Stenosis Due to Tracheobronchial Remnants in a Newborn Prenatally Diagnosed with Duodenal Atresia. ( 30039104 )
2015
40
A newly designed stent for management of malignant distal duodenal stenosis. ( 24798136 )
2015
41
A 15-month-old boy with congenital duodenal stenosis due to food impaction. ( 25651381 )
2015
42
Gastroscopic treatment of membranous duodenal stenosis in infants and children: report of 6 cases. ( 25746699 )
2015
43
Groove pancreatitis with duodenal stenosis: A case report. ( 26644107 )
2015
44
Gastrojejunostomy without partial gastrectomy to manage duodenal stenosis in a dog. ( 26824343 )
2015
45
Congenital duodenal stenosis misdiagnosed as iron deficiency anemia for 20 years. ( 24923450 )
2014
46
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. ( 23914949 )
2014
47
Pyloric exclusion for treatment of complicated duodenal atresia. ( 24556975 )
2014
48
Duodenal atresia: not always a double bubble. ( 24557485 )
2014
49
A case of duodenal atresia with apple peel appearance: challenging the current embryology. ( 25024980 )
2014
50
Laparoscopic repair of duodenal atresia in a low birth weight neonate. ( 25197863 )
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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.72 CDON FGF10 HNF1B ITGA6 TEF
2 odontogenesis of dentin-containing tooth GO:0042475 9.48 FGF10 ITGA6
3 skin development GO:0043588 9.46 COL5A1 ITGA6
4 digestive tract development GO:0048565 9.43 FGF10 ITGA6
5 pancreas development GO:0031016 9.4 FGF10 HNF1B
6 branching morphogenesis of an epithelial tube GO:0048754 9.37 FGF10 HNF1B
7 embryonic digestive tract development GO:0048566 9.26 FGF10 SCT
8 embryonic digestive tract morphogenesis GO:0048557 9.16 FGF10 HNF1B
9 embryonic morphogenesis GO:0048598 8.96 CDON HNF1B
10 epithelial cell proliferation GO:0050673 8.62 FGF10 HNF1B

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 HNF1B ITGA6

Sources for Duodenal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....