MCID: PNC118
MIFTS: 38

Pancreas, Annular

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

Aliases & Classifications for Pancreas, Annular

MalaCards integrated aliases for Pancreas, Annular:

Name: Pancreas, Annular 58 54
Annular Pancreas 12 77 54 60 30 45 15

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant


HPO:

33
pancreas, annular:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060850
OMIM 58 167750
MeSH 45 C536376
NCIt 51 C98813
SNOMED-CT 69 40315008
ICD10 34 Q45.1
MESH via Orphanet 46 C536376
ICD10 via Orphanet 35 Q45.1
UMLS via Orphanet 75 C0149955
Orphanet 60 ORPHA675
MedGen 43 C0149955
SNOMED-CT via HPO 70 263681008 73120006
UMLS 74 C0149955

Summaries for Pancreas, Annular

NIH Rare Diseases : 54 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 mitchell-riley syndrome and duodenal obstruction. 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 duodenal stenosis

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 : 77 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 58)
# Related Disease Score Top Affiliating Genes
1 mitchell-riley syndrome 11.2
2 duodenal obstruction 10.6
3 acute pancreatitis 10.3
4 pancreatic cancer 10.1
5 obstructive jaundice 10.1
6 adenocarcinoma 10.1
7 situs inversus 10.1
8 down syndrome 10.0
9 bile duct cysts 10.0
10 diabetes mellitus 10.0
11 insulinoma 10.0
12 cholelithiasis 10.0
13 intestinal obstruction 10.0
14 degos 'en cocarde' erythrokeratoderma 10.0
15 recurrent acute pancreatitis 10.0
16 cornelia de lange syndrome 1 9.8
17 ehlers-danlos syndrome, classic type, 2 9.8
18 renal cell carcinoma, nonpapillary 9.8
19 trichorhinophalangeal syndrome, type ii 9.8
20 meckel diverticulum 9.8
21 vater/vacterl association 9.8
22 bronchomalacia 9.8
23 duodenal atresia 9.8
24 biotinidase deficiency 9.8
25 alveolar capillary dysplasia with misalignment of pulmonary veins 9.8
26 pyloric atresia 9.8
27 rothmund-thomson syndrome 9.8
28 smith-lemli-opitz syndrome 9.8
29 thrombocytopenia-absent radius syndrome 9.8
30 opitz gbbb syndrome, type i 9.8
31 colonic atresia 9.8
32 sacral defect with anterior meningocele 9.8
33 diabetes mellitus, permanent neonatal 9.8
34 chromosome 1p36 deletion syndrome 9.8
35 congenital short bowel syndrome 9.8
36 exocrine pancreatic insufficiency 9.8
37 pancreas adenocarcinoma 9.8
38 autoimmune pancreatitis 9.8
39 tracheomalacia 9.8
40 short bowel syndrome 9.8
41 gastric ulcer 9.8
42 neonatal diabetes mellitus 9.8
43 cornelia de lange syndrome 9.8
44 gastroparesis 9.8
45 ehlers-danlos syndrome 9.8
46 vacterl association 9.8
47 pancreatitis 9.8
48 peptic ulcer disease 9.8
49 peritonitis 9.8
50 afferent loop syndrome 9.8

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



Diseases related to Pancreas, Annular

Symptoms & Phenotypes for Pancreas, Annular

Human phenotypes related to Pancreas, Annular:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 annular pancreas 60 33 hallmark (90%) Very frequent (99-80%) HP:0001734
2 duodenal stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100867
3 high intestinal obstruction 60 33 frequent (33%) Frequent (79-30%) HP:0005250

Symptoms via clinical synopsis from OMIM:

58
G I:
annular pancreas
duodenal stenosis
high intestinal obstruction

Clinical features from OMIM:

167750

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 30

Anatomical Context for Pancreas, Annular

MalaCards organs/tissues related to Pancreas, Annular:

42
Pancreas, Kidney, Colon

Publications for Pancreas, Annular

Articles related to Pancreas, Annular:

(show top 50) (show all 370)
# Title Authors Year
1
Annular Pancreas in Adults: Case Report and Literature Review. ( 30855730 )
2019
2
Portal annular pancreas: A case report. ( 30852073 )
2019
3
Annular Pancreas. ( 30710695 )
2019
4
Pancreaticobiliary maljunction diagnosed long after laparotomy in the neonatal period for annular pancreas: report of a case. ( 30707318 )
2019
5
Clinical spectrum of adult patients with annular pancreas: Findings from a large single institution cohort. ( 30660391 )
2019
6
Laparoscopic Roux-en Y duodenojejunostomy: A safe and physiological treatment for symptomatic annular pancreas in adults. ( 30618433 )
2019
7
Diagnostic value of the acute angle between the prestenotic and poststenotic duodenum in neonatal annular pancreas. ( 30617479 )
2019
8
Annular pancreas: endoscopic and pancreatographic findings from a tertiary referral ERCP center. ( 30240880 )
2019
9
Central pancreatectomy in portal annular pancreas for metastatic renal cell carcinoma: a case report. ( 31039791 )
2019
10
Crocodile jaw sign: Annular pancreas. ( 30309083 )
2018
11
Laparoscopic Roux-en-Y duodenojejunostomy for annular pancreas in adults: case report and literature review. ( 30023374 )
2018
12
Annular pancreas in China: 9 years' experience from a single center. ( 29909441 )
2018
13
Portal Annular Pancreas: Case Report of a Rare Anomaly. ( 29805935 )
2018
14
A newborn patient with both annular pancreas and Meckel's diverticulum: A case report of an unusual association. ( 29703052 )
2018
15
C-11 Choline and F-18 Fluciclovine PET/CT demonstration of annular pancreas. ( 29631936 )
2018
16
Management of portal annular pancreas during laparoscopic pancreaticoduodenectomy. ( 29582803 )
2018
17
Endoscopic Treatment of Duodenal Web in Association With Annular Pancreas in an Infant. ( 29570140 )
2018
18
Pancreaticoduodenectomy for an Ampullary Region Carcinoma Occurred in Annular Pancreas Coexistent with Replaced Common Hepatic Artery. ( 29560005 )
2018
19
Complete Annular Pancreas with Concurrent Entero-Pancreatico-Biliary Symptoms in Adult: A Case Report. ( 29459613 )
2018
20
Annular pancreas. An unusual intraoperative finding. ( 28527819 )
2018
21
Erb's palsy complicating a case of annular pancreas. ( 29689736 )
2018
22
Annular Pancreas in an Adult Presenting with Acute Pancreatitis. ( 30651906 )
2018
23
A rare cause of vomiting: annular pancreas. ( 29483805 )
2017
24
Radical antegrade modular pancreatosplenectomy for adenocarcinomaof the body of the pancreas in a patient with portal annular pancreas, aberrant hepatic artery, and absence of the celiac trunk: A case report. ( 29310347 )
2017
25
Annular Pancreas Combined with Intestinal Malrotation and Duodenal Duplication: A Rare Case of Multiple Alimentary Tract Anomalies in a Preadolescent. ( 28975755 )
2017
26
Annular pancreas as graft for pancreas transplantation. Technical considerations and long-term follow-up of two successful cases. ( 28393403 )
2017
27
A case of annular pancreas with Wirsung's duct encircling the duodenum: embryological hypothesis based on cholangiopancreatographic and immunohistochemical findings. ( 28364316 )
2017
28
Annular pancreas in an 11-year-old girl: a case report. ( 28280396 )
2017
29
Portal Annular Pancreas: A Rare and Overlooked Anomaly. ( 28203311 )
2017
30
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. ( 29317564 )
2017
31
Duodenal Obstruction Caused by an Annular Pancreas - Sonographic Diagnosis in a 4-Month-Old Dystrophic Infant. ( 27529456 )
2017
32
Annular pancreas causing duodenal obstruction in an adult. ( 28500113 )
2017
33
Afferent loop syndrome in a patient having incomplete annular pancreas. ( 30363330 )
2017
34
Recurrent bowel obstruction: unusual presentation of pembrolizumab-induced pancreatitis in annular pancreas. ( 28689094 )
2017
35
Carcinoma of the Ampulla of Vater Associated with Annular Pancreas. ( 27994339 )
2016
36
Incomplete Annular Pancreas with Ectopic Opening of the Pancreatic and Bile Ducts into the Pyloric Ring: First Report of a Rare Anomaly. ( 27721721 )
2016
37
Partial annular pancreas. ( 27695176 )
2016
38
Portal annular pancreas: An unusual pancreatic anomaly. ( 26867987 )
2016
39
Symptomatic annular pancreas in adult: Report of two different presentations and treatments and review of the literature. ( 26867720 )
2016
40
Operative management of portal annular pancreas during pancreaticoduodenectomy. ( 26144878 )
2016
41
Duodenal obstruction due to annular pancreas associated with carcinoma of the duodenum. ( 27350844 )
2016
42
Annular Pancreas, Severe Tracheomalacia and Bronchomalacia in a Preterm Boy with Vacterl Association. ( 29485824 )
2016
43
Intraductal papillary mucinous neoplasm in an annular pancreas: a case report. ( 26943411 )
2015
44
Portal annular pancreas: the pancreatic duct ring sign on MRCP. ( 26649117 )
2015
45
"Ductal adenocarcinoma in annular pancreas": Is it really an annular pancreas with pancreatic cancer? ( 26481136 )
2015
46
Pancreaticoduodenectomy for pancreas carcinoma occurring in the annular pancreas: report of a case. ( 26153253 )
2015
47
A case of annular pancreas accompanied with intraductal papillary mucinous neoplasm-case report. ( 26064223 )
2015
48
Portal Annular Pancreas With Retroportal Pancreatic Duct Diagnosed With Endoscopic Ultrasound. ( 25937363 )
2015
49
Annular pancreas: Culprit or innocent bystander? ( 25487754 )
2015
50
Annular pancreas, type I choledochal cyst and malrotation in a low-birth weight newborn: A case report. ( 26166991 )
2015

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 positive regulation of transcription by RNA polymerase II GO:0045944 9.67 FOXF1 IHH RFX6 TEF
2 in utero embryonic development GO:0001701 9.4 FOXF1 IHH
3 pancreas development GO:0031016 9.32 FOXF1 IHH
4 positive regulation of mesenchymal cell proliferation GO:0002053 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 DNA-binding transcription factor activity GO:0003700 9.33 FOXF1 RFX6 TEF
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 FOXF1 RFX6
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.8 FOXF1 RFX6 TEF

Sources for Pancreas, Annular

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
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