MCID: PNC118
MIFTS: 38

Pancreas, Annular

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases, Endocrine diseases

Aliases & Classifications for Pancreas, Annular

MalaCards integrated aliases for Pancreas, Annular:

Name: Pancreas, Annular 57 53
Annular Pancreas 12 76 53 59 29 44 15

Characteristics:

Orphanet epidemiological data:

59
annular pancreas
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe),1-5/10000 (Austria),1-9/100000 (Belgium),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-9/1000000 (Poland),1-9/100000 (Spain),1-9/1000000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pancreas, annular:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 167750
Disease Ontology 12 DOID:0060850
ICD10 33 Q45.1
MeSH 44 C536376
Orphanet 59 ORPHA675
MESH via Orphanet 45 C536376
UMLS via Orphanet 74 C0149955
ICD10 via Orphanet 34 Q45.1
MedGen 42 C0149955
SNOMED-CT via HPO 69 263681008 40315008 73120006
UMLS 73 C0149955

Summaries for Pancreas, Annular

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 675Disease definitionAnnular pancreas is a distinct form of duodenal atresia (see this term) in which the head of the pancreas forms a ring around the second portion of the duodenum.EpidemiologyThe annual incidence is estimated at around 1/50,000 births, representing 10% of all cases of duodenal stenosis.Clinical descriptionDuring the neonatal period, the clinical picture is dominated by epigastric distension with vomiting, which is nonbilious as the obstruction is usually supra-vaterian (above the junction of the biliary ducts). As in other forms of duodenal atresia, malformations of the cranial intestine are also frequently present in patients with annular pancreas. Cardiac anomalies may also be present and are more frequent in the context of notochord induction anomalies or deficiency. Chromosomal abnormalities are present in one-third of cases of annular pancreas, with trisomy 21 (followed by trisomy 18 and 13; see these terms) being the most frequently detected anomaly.EtiologyAnnular pancreas is an embryopathy resulting from an anomaly occurring early (towards the fourth week) in development. It is a distinct form of duodenal atresia, rather than a pancreatic anomaly, and should not be confused with other congenital malformations of the pancreas or pancreaticobiliary ducts (such as anomalies of the pancreaticobiliary junction) for which the diagnosis cannot be made until childhood or adulthood.Diagnostic methodsDiagnosis of annular pancreas is often made before birth through ultrasound findings showing duodenal dilation and through difficulties in observing peri-duodenal pancreatic development. In cases where the diagnosis is not made prenatally, it is made in the neonatal period on the basis of the clinical picture and imagining studies (abdominal radiography and ultrasound).Differential diagnosisThe differential diagnosis should include other forms of duodenal stenosis.Antenatal diagnosisPrenatal diagnosis allows management to be planned in a specialized center immediately after birth.Management and treatmentInvestigations using a gastric tube allow drainage of the digestive tract prior to the site of obstruction. Treatment is surgical and is performed in the neonatal period.PrognosisThe prognosis for annular pancreas is very favorable, but the overall prognosis depends on the presence of associated malformations.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pancreas, Annular, also known as annular pancreas, is related to duodenal atresia and mitchell-riley syndrome. An important gene associated with Pancreas, Annular is RFX6 (Regulatory Factor X6). Affiliated tissues include pancreas, kidney and colon, and related phenotypes are annular pancreas and high intestinal obstruction

Disease Ontology : 12 A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.

Wikipedia : 76 Annular pancreas is a rare condition in which the second part of the duodenum is surrounded by a ring of... more...

Description from OMIM: 167750

Related Diseases for Pancreas, Annular

Diseases related to Pancreas, Annular via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 duodenal atresia 11.5
2 mitchell-riley syndrome 11.0
3 duodenitis 10.6
4 duodenal obstruction 10.4
5 pancreatitis 10.4
6 acute pancreatitis 10.1
7 vater/vacterl association 9.9
8 obstructive jaundice 9.9
9 vacterl association 9.9
10 situs inversus 9.9
11 down syndrome 9.9
12 pancreatic cancer 9.9
13 aging 9.9
14 bile duct cysts 9.9
15 diabetes mellitus 9.9
16 cholelithiasis 9.9
17 adenocarcinoma 9.9
18 intestinal obstruction 9.9
19 ehlers-danlos syndrome, classic type, 1 9.7
20 trichorhinophalangeal syndrome, type ii 9.7
21 bronchomalacia 9.7
22 biotinidase deficiency 9.7
23 alveolar capillary dysplasia with misalignment of pulmonary veins 9.7
24 pyloric atresia 9.7
25 rothmund-thomson syndrome 9.7
26 smith-lemli-opitz syndrome 9.7
27 opitz gbbb syndrome, type i 9.7
28 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 9.7
29 colonic atresia 9.7
30 sacral defect with anterior meningocele 9.7
31 diabetes mellitus, permanent neonatal 9.7
32 congenital short bowel syndrome 9.7
33 exocrine pancreatic insufficiency 9.7
34 insulinoma 9.7
35 pancreas adenocarcinoma 9.7
36 tracheomalacia 9.7
37 short bowel syndrome 9.7
38 gastric ulcer 9.7
39 neonatal diabetes mellitus 9.7
40 cornelia de lange syndrome 9.7
41 gastroparesis 9.7
42 ehlers-danlos syndrome 9.7
43 duodenal ulcer 9.7
44 peptic ulcer disease 9.7
45 peritonitis 9.7
46 cholangitis 9.7
47 type i 9.7
48 trichorhinophalangeal syndrome 9.7
49 alveolar capillary dysplasia 9.7
50 autoimmune pancreatitis 9.7

Graphical network of the top 20 diseases related to Pancreas, Annular:



Diseases related to Pancreas, Annular

Symptoms & Phenotypes for Pancreas, Annular

Symptoms via clinical synopsis from OMIM:

57
GI:
annular pancreas
duodenal stenosis
high intestinal obstruction


Clinical features from OMIM:

167750

Human phenotypes related to Pancreas, Annular:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 annular pancreas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001734
2 high intestinal obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0005250
3 duodenal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100867

Drugs & Therapeutics for Pancreas, Annular

Search Clinical Trials , NIH Clinical Center for Pancreas, Annular

Cochrane evidence based reviews: annular pancreas

Genetic Tests for Pancreas, Annular

Genetic tests related to Pancreas, Annular:

# Genetic test Affiliating Genes
1 Annular Pancreas 29

Anatomical Context for Pancreas, Annular

MalaCards organs/tissues related to Pancreas, Annular:

41
Pancreas, Kidney, Colon

Publications for Pancreas, Annular

Articles related to Pancreas, Annular:

(show top 50) (show all 329)
# Title Authors Year
1
Erb's palsy complicating a case of annular pancreas. ( 29689736 )
2018
2
A case of annular pancreas with Wirsung's duct encircling the duodenum: embryological hypothesis based on cholangiopancreatographic and immunohistochemical findings. ( 28364316 )
2017
3
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
4
Annular pancreas causing duodenal obstruction in an adult. ( 28500113 )
2017
5
Incomplete Annular Pancreas with Ectopic Opening of the Pancreatic and Bile Ducts into the Pyloric Ring: First Report of a Rare Anomaly. ( 27721721 )
2016
6
Symptomatic annular pancreas in adult: Report of two different presentations and treatments and review of the literature. ( 26867720 )
2016
7
Duodenal obstruction due to annular pancreas associated with carcinoma of the duodenum. ( 27350844 )
2016
8
Portal annular pancreas: An unusual pancreatic anomaly. ( 26867987 )
2016
9
Duodenal Obstruction Caused by an Annular Pancreas - Sonographic Diagnosis in a 4-Month-Old Dystrophic Infant. ( 27529456 )
2016
10
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
11
Pancreaticoduodenectomy for pancreas carcinoma occurring in the annular pancreas: report of a case. ( 26153253 )
2015
12
Operative management of portal annular pancreas during pancreaticoduodenectomy. ( 26144878 )
2015
13
Colonic atresia associated with annular pancreas: An extremely rare and previously unreported association. ( 26166992 )
2015
14
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. ( 26673557 )
2015
15
Intraductal papillary mucinous neoplasm in an annular pancreas: a case report. ( 26943411 )
2015
16
Portal Annular Pancreas With Retroportal Pancreatic Duct Diagnosed With Endoscopic Ultrasound. ( 25937363 )
2015
17
A case of annular pancreas accompanied with intraductal papillary mucinous neoplasm-case report. ( 26064223 )
2015
18
Portal annular pancreas: the pancreatic duct ring sign on MRCP. ( 26649117 )
2015
19
Annular pancreas, type I choledochal cyst and malrotation in a low-birth weight newborn: A case report. ( 26166991 )
2015
20
"Ductal adenocarcinoma in annular pancreas": Is it really an annular pancreas with pancreatic cancer? ( 26481136 )
2015
21
Annular pancreas. ( 24741860 )
2014
22
Laparoscopic enucleation of insulinoma in a patient with annular pancreas: a rare case. ( 24526521 )
2014
23
Duodenal stent placement for duodenal obstruction caused by pancreatic cancer associated with annular pancreas. ( 24890427 )
2014
24
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
25
Annular pancreas: a cause of gastric outlet obstruction in a 20-year-old patient. ( 25300027 )
2014
26
Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: report of 11 cases. ( 24477526 )
2014
27
An unusual constellation of congenital malformations in a single patient including partial anomalous pulmonary venous return, persistent left superior vena cava, aberrant pulmonary fissure, anomalous aortic arch, tracheal diverticulum and annular pancreas. ( 25362184 )
2014
28
Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene. ( 24668915 )
2014
29
Portal annular pancreas: a systematic review of a clinical challenge. ( 25207658 )
2014
30
Laparoscopic side-to-side duodenoduodenostomy for adult annular pancreas. ( 24360249 )
2014
31
Annular pancreas: Culprit or innocent bystander? ( 25487754 )
2014
32
Annular pancreas in adults: a report of two cases and review of literature. ( 23669479 )
2013
33
Acute pancreatitis revealing an annular pancreas. ( 23928131 )
2013
34
Annular pancreas: a rare cause of upper gastrointestinal bleeding in a child. ( 22868685 )
2013
35
Pancreaticoduodenectomy in portal annular pancreas: report of a case. ( 22855010 )
2013
36
Annular pancreas: unusual EUS finding in an adult patient with asymptomatic pancreatic hyperenzymemia. ( 23858562 )
2013
37
Annular pancreas concurrent with pancreaticobiliary maljunction presented with symptoms until adult age: case report with comparative data on pediatric cases. ( 24156788 )
2013
38
A strange case of double annular pancreas. ( 23306345 )
2013
39
An extremely rare portal annular pancreas for pancreaticoduodenectomy with a special note on the pancreatic duct management in the dorsal pancreas. ( 22000830 )
2013
40
An unusual cause of gastric outlet obstruction-incomplete annular pancreas. ( 23472390 )
2013
41
A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas. ( 23407133 )
2013
42
Portal annular pancreas: an under-reported pancreatic anomaly. ( 23741598 )
2012
43
Two cases of portal annular pancreas. ( 22832801 )
2012
44
A pediatric case of an unusual type of annular pancreas presenting with duodenopancreatic reflux. ( 22358254 )
2012
45
Additional resection of the pancreas body prevents postoperative pancreas fistula in patients with portal annular pancreas who undergo pancreaticoduodenectomy. ( 22532811 )
2012
46
Annular pancreas associated with duodenal obstruction. ( 22987909 )
2012
47
Endoscopic and endoscopic ultrasound (EUS) features of annular pancreas: duodenal ulceration and a dilated bile duct. ( 23169044 )
2012
48
Laparoscopic diagnosis of annular pancreas in a patient with mucinous cystoadenoma of the body of the pancreas. ( 21107752 )
2012
49
Autoimmune pancreatitis with low serum immunoglobulin G4 level associated with annular pancreas. ( 22695093 )
2012
50
An unusual cause of acute pancreatitis: annular pancreas and papillary opening of the cystic duct. ( 22844573 )
2012

Variations for Pancreas, Annular

Expression for Pancreas, Annular

Search GEO for disease gene expression data for Pancreas, Annular.

Pathways for Pancreas, Annular

GO Terms for Pancreas, Annular

Biological processes related to Pancreas, Annular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.4 FOXF1 IHH
2 digestive tract development GO:0048565 9.37 CLMP FOXF1
3 positive regulation of mesenchymal cell proliferation GO:0002053 9.32 FOXF1 IHH
4 pancreas development GO:0031016 9.26 FOXF1 IHH
5 embryonic digestive tract morphogenesis GO:0048557 9.16 FOXF1 IHH
6 morphogenesis of a branching structure GO:0001763 8.96 FOXF1 IHH
7 smoothened signaling pathway GO:0007224 8.8 FOXF1 IHH NSDHL

Molecular functions related to Pancreas, Annular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.62 FOXF1 RFX6

Sources for Pancreas, Annular

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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