MCID: PNC118
MIFTS: 39

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 57 53
Annular Pancreas 12 75 53 59 29 44 15 33

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:

Disease Ontology 12 DOID:0060850
OMIM 57 167750
MeSH 44 C536376
NCIt 50 C98813
SNOMED-CT 68 40315008
ICD10 33 Q45.1
MESH via Orphanet 45 C536376
ICD10 via Orphanet 34 Q45.1
UMLS via Orphanet 73 C0149955
Orphanet 59 ORPHA675
MedGen 42 C0149955
UMLS 72 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: 675DefinitionA distinct form of duodenal atresia 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 esophageal atresia and mitchell-riley syndrome. An important gene associated with Pancreas, Annular is RFX6 (Regulatory Factor X6). Affiliated tissues include pancreas, kidney and small intestine, 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 : 75 Annular pancreas is a rare condition in which the second part of the duodenum is surrounded by a ring of... more...

More information 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 107)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia 29.3 TEF FOXF1
2 mitchell-riley syndrome 11.3
3 obstructive jaundice 10.4
4 down syndrome 10.3
5 intestinal obstruction 10.3
6 tracheoesophageal fistula with or without esophageal atresia 10.1
7 duodenal atresia 10.1
8 cholelithiasis 10.1
9 gastric ulcer 10.1
10 vacterl association 10.1
11 dyspepsia 10.1
12 adenocarcinoma 10.1
13 duodenal obstruction 10.1
14 insulinoma 10.1
15 situs inversus 10.1
16 meckel diverticulum 10.0
17 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
18 duodenal ulcer 10.0
19 acalculous cholecystitis 10.0
20 pancreatitis 10.0
21 peritonitis 10.0
22 polyhydramnios 10.0
23 cholangitis 10.0
24 tracheoesophageal fistula 10.0
25 recurrent acute pancreatitis 10.0
26 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
27 cornelia de lange syndrome 1 9.8
28 ehlers-danlos syndrome, classic type, 2 9.8
29 epicanthus 9.8
30 exostoses, multiple, type i 9.8
31 hirschsprung disease 1 9.8
32 renal cell carcinoma, nonpapillary 9.8
33 jacobsen syndrome 9.8
34 trichorhinophalangeal syndrome, type ii 9.8
35 polykaryocytosis inducer 9.8
36 trichorhinophalangeal syndrome, type i 9.8
37 renal hypodysplasia/aplasia 1 9.8
38 vater/vacterl association 9.8
39 bronchomalacia 9.8
40 c syndrome 9.8
41 diabetes mellitus, insulin-dependent 9.8
42 biotinidase deficiency 9.8
43 pancreatic cancer 9.8
44 alveolar capillary dysplasia with misalignment of pulmonary veins 9.8
45 pyloric atresia 9.8
46 rothmund-thomson syndrome 9.8
47 smith-lemli-opitz syndrome 9.8
48 thrombocytopenia-absent radius syndrome 9.8
49 opitz gbbb syndrome, type i 9.8
50 colonic atresia 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:

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

Symptoms via clinical synopsis from OMIM:

57
G I:
annular pancreas
duodenal stenosis
high intestinal obstruction

Clinical features from OMIM:

167750

Drugs & Therapeutics for Pancreas, Annular

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Umblical Incision for Neonatal Surgey; is it Suitable Completed NCT03256669

Search 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, Small Intestine, Colon, Liver, Heart

Publications for Pancreas, Annular

Articles related to Pancreas, Annular:

(show top 50) (show all 717)
# Title Authors PMID Year
1
Regulation of pancreas development by hedgehog signaling. 38 8
11044404 2000
2
Hedgehog signals regulate multiple aspects of gastrointestinal development. 38 8
10821773 2000
3
Annular pancreas in two sisters. 38 8
8533856 1995
4
Annular pancreas in a mother and daughter. 38 8
8418645 1993
5
Association of annular pancreas and duodenal obstruction--evidence for Mendelian inheritance? 38 8
1860255 1991
6
Annular pancreas in mother and son. 38 8
3425608 1987
7
Autosomal dominant inheritance of annular pancreas. 38 8
677171 1978
8
Report of a case of annular pancreas of the newborn in two consecutive siblings. 38 8
5561869 1971
9
The main radiologic findings in annular pancreas. 38
31435094 2019
10
Comparison of outcomes between complete and incomplete congenital duodenal obstruction. 38
31391773 2019
11
Duodenal obstruction due to chronic pancreatitis of the pancreas tail treated by surgical intervention: A case report. 38
31277088 2019
12
Portal annular pancreas: A case report. 38
30852073 2019
13
Diagnostic value of the acute angle between the prestenotic and poststenotic duodenum in neonatal annular pancreas. 38
30617479 2019
14
Annular pancreas in a 24-year-old woman with persistent abdominal pain. 38
31227569 2019
15
Central pancreatectomy in portal annular pancreas for metastatic renal cell carcinoma: a case report. 38
31039791 2019
16
Clinical spectrum of adult patients with annular pancreas: Findings from a large single institution cohort. 38
30660391 2019
17
Annular pancreas: endoscopic and pancreatographic findings from a tertiary referral ERCP center. 38
30240880 2019
18
Annular Pancreas in Adults: Case Report and Literature Review. 38
30855730 2019
19
Pancreaticobiliary maljunction diagnosed long after laparotomy in the neonatal period for annular pancreas: report of a case. 38
30707318 2019
20
Laparoscopic Roux-en Y duodenojejunostomy: A safe and physiological treatment for symptomatic annular pancreas in adults. 38
30618433 2019
21
Annular Pancreas. 38
30710695 2019
22
Crocodile jaw sign: Annular pancreas. 38
30309083 2018
23
Management of portal annular pancreas during laparoscopic pancreaticoduodenectomy. 38
29582803 2018
24
Annular Pancreas in an Adult Presenting with Acute Pancreatitis. 38
30651906 2018
25
Endoscopic Treatment of Duodenal Web in Association With Annular Pancreas in an Infant. 38
29570140 2018
26
C-11 Choline and F-18 Fluciclovine PET/CT demonstration of annular pancreas. 38
29631936 2018
27
Annular pancreas in China: 9 years' experience from a single center. 38
29909441 2018
28
Laparoscopic Roux-en-Y duodenojejunostomy for annular pancreas in adults: case report and literature review. 38
30023374 2018
29
Duodenal and Bile Duct Narrowing Due to Partial Annular Pancreas: A Rare Association. 38
31331147 2018
30
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. 38
29288792 2018
31
Annular Pancreas in Adult. 38
29791990 2018
32
[Complications after laparoscopic Ladd operation for intestinal malrotation in neonates]. 38
30226329 2018
33
A newborn patient with both annular pancreas and Meckel's diverticulum: A case report of an unusual association. 38
29703052 2018
34
Portal Annular Pancreas: Case Report of a Rare Anomaly. 38
29805935 2018
35
Imaging mimics of pancreatic ductal adenocarcinoma. 38
29038855 2018
36
Erb's palsy complicating a case of annular pancreas. 38
29689736 2018
37
Complete Annular Pancreas with Concurrent Entero-Pancreatico-Biliary Symptoms in Adult: A Case Report. 38
29459613 2018
38
Pancreaticoduodenectomy for an Ampullary Region Carcinoma Occurred in Annular Pancreas Coexistent with Replaced Common Hepatic Artery. 38
29560005 2018
39
[Portal annular pancreas]. 38
30560859 2018
40
Annular pancreas. An unusual intraoperative finding. 38
28527819 2018
41
A rare cause of vomiting: annular pancreas. 38
29483805 2017
42
PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency. 38
29317564 2017
43
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. 38
29310347 2017
44
Annular Pancreas Combined with Intestinal Malrotation and Duodenal Duplication: A Rare Case of Multiple Alimentary Tract Anomalies in a Preadolescent. 38
28975755 2017
45
The efficiency of sonography in diagnosing volvulus in neonates with suspected intestinal malrotation. 38
29049228 2017
46
The Normal Fetal Pancreas. 38
28509414 2017
47
Recurrent bowel obstruction: unusual presentation of pembrolizumab-induced pancreatitis in annular pancreas. 38
28689094 2017
48
Annular pancreas as graft for pancreas transplantation. Technical considerations and long-term follow-up of two successful cases. 38
28393403 2017
49
A case of annular pancreas with Wirsung's duct encircling the duodenum: embryological hypothesis based on cholangiopancreatographic and immunohistochemical findings. 38
28364316 2017
50
Duodenal Obstruction Caused by an Annular Pancreas - Sonographic Diagnosis in a 4-Month-Old Dystrophic Infant. 38
27529456 2017

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 TEF RFX6 IHH FOXF1
2 in utero embryonic development GO:0001701 9.4 IHH FOXF1
3 pancreas development GO:0031016 9.32 IHH FOXF1
4 positive regulation of mesenchymal cell proliferation GO:0002053 9.26 IHH FOXF1
5 embryonic digestive tract morphogenesis GO:0048557 9.16 IHH FOXF1
6 morphogenesis of a branching structure GO:0001763 8.96 IHH FOXF1
7 smoothened signaling pathway GO:0007224 8.8 NSDHL IHH FOXF1

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 TEF RFX6 FOXF1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 RFX6 FOXF1
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.8 TEF RFX6 FOXF1

Sources for Pancreas, Annular

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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