MCID: PNC118
MIFTS: 42

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 56 52
Annular Pancreas 12 74 52 58 29 43 15 32

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant


HPO:

31
pancreas, annular:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060850
OMIM 56 167750
MeSH 43 C536376
NCIt 49 C98813
SNOMED-CT 67 40315008
ICD10 32 Q45.1
MESH via Orphanet 44 C536376
ICD10 via Orphanet 33 Q45.1
UMLS via Orphanet 72 C0149955
Orphanet 58 ORPHA675
MedGen 41 C0149955
SNOMED-CT via HPO 68 263681008 73120006
UMLS 71 C0149955

Summaries for Pancreas, Annular

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 675 Definition A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. Epidemiology The annual incidence is estimated at around 1/50,000 births, representing 10% of all cases of duodenal stenosis. Clinical description During 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. Etiology Annular 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 methods Diagnosis 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 diagnosis The differential diagnosis should include other forms of duodenal stenosis. Antenatal diagnosis Prenatal diagnosis allows management to be planned in a specialized center immediately after birth. Management and treatment Investigations 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. Prognosis The 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 duodenal obstruction. An important gene associated with Pancreas, Annular is FOXF1 (Forkhead Box F1), and among its related pathways/superpathways are Signaling events mediated by the Hedgehog family and Hedgehog Signaling Pathway (WikiPathways). Affiliated tissues include pancreas, kidney and small intestine, and related phenotypes are duodenal stenosis and annular pancreas

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 : 74 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 126)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia 30.4 TEF SHH FOXF1
2 duodenal obstruction 30.3 TEF SPINK1 PRSS1
3 vacterl association 29.9 TEF SHH MTHFSD FOXL1 FOXF1
4 intestinal atresia 29.8 TEF RFX6 MTHFSD FOXF1
5 duodenal atresia 29.2 TEF SHH SCT RFX6 MTHFSD FOXF1
6 pancreatitis 29.2 SPINK1 SCT PRSS1 PPY
7 acute pancreatitis 29.1 SPINK1 SCT PRSS1
8 exocrine pancreatic insufficiency 28.9 SPINK1 SCT PRSS1 PPY
9 mitchell-riley syndrome 11.3
10 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.4
11 intestinal obstruction 10.4
12 down syndrome 10.3
13 hernia, hiatus 10.3 TEF FOXF1
14 pancreatic cancer 10.3
15 feingold syndrome 1 10.2 TEF MTHFSD FOXF1
16 chromosomal triplication 10.2
17 culler-jones syndrome 10.2 SHH IHH
18 pallister-hall syndrome 10.2 SHH MTHFSD FOXF1
19 acrocapitofemoral dysplasia 10.2 SHH IHH
20 prss1-related hereditary pancreatitis 10.1 SPINK1 PRSS1
21 cholelithiasis 10.1
22 gastric ulcer 10.1
23 adenocarcinoma 10.1
24 insulinoma 10.1
25 situs inversus 10.1
26 anus, imperforate 10.0 TEF SHH MTHFSD FOXF1
27 tropical calcific pancreatitis 10.0 SPINK1 PRSS1
28 diaphragm disease 10.0 TEF STRA6
29 pancreatic agenesis 1 10.0 SPINK1 SCT
30 donnai-barrow syndrome 10.0 STRA6 SHH
31 meckel diverticulum 10.0
32 tracheoesophageal fistula with or without esophageal atresia 10.0
33 acalculous cholecystitis 10.0
34 peritonitis 10.0
35 polyhydramnios 10.0
36 cholangitis 10.0
37 duodenal gastrinoma 10.0 SCT PPY
38 pancreatic cholera 10.0 SCT PPY
39 pancreatic gastrinoma 10.0 SCT PPY
40 endocrine pancreas disease 9.9 SCT PPY
41 diaphragmatic hernia, congenital 9.9 TEF STRA6 SHH FOXF1
42 nonspecific interstitial pneumonia 9.9 SHH FOXF1
43 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
44 cornelia de lange syndrome 1 9.9
45 ehlers-danlos syndrome, classic type, 2 9.9
46 epicanthus 9.9
47 exostoses, multiple, type i 9.9
48 hirschsprung disease 1 9.9
49 renal cell carcinoma, nonpapillary 9.9
50 jacobsen syndrome 9.9

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 duodenal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100867
2 annular pancreas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001734
3 high intestinal obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0005250

Symptoms via clinical synopsis from OMIM:

56
G I:
duodenal stenosis
annular pancreas
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:

40
Pancreas, Kidney, Small Intestine, Spleen, Heart, Colon, Liver

Publications for Pancreas, Annular

Articles related to Pancreas, Annular:

(show top 50) (show all 730)
# Title Authors PMID Year
1
Regulation of pancreas development by hedgehog signaling. 56 61
11044404 2000
2
Hedgehog signals regulate multiple aspects of gastrointestinal development. 56 61
10821773 2000
3
Annular pancreas in two sisters. 61 56
8533856 1995
4
Annular pancreas in a mother and daughter. 56 61
8418645 1993
5
Association of annular pancreas and duodenal obstruction--evidence for Mendelian inheritance? 61 56
1860255 1991
6
Annular pancreas in mother and son. 61 56
3425608 1987
7
Autosomal dominant inheritance of annular pancreas. 56 61
677171 1978
8
Report of a case of annular pancreas of the newborn in two consecutive siblings. 56 61
5561869 1971
9
Annular Pancreas. 61
30710695 2020
10
Rare Extracardiac Anomalies Presented with Right Heterotaxy Syndrome in a Newborn Baby: A Case Report. 61
32491997 2020
11
How to divide the pancreatic parenchyma in patients with a portal annular pancreas: laparoscopic spleen-preserving distal pancreatectomy for serous cystic neoplasms. 61
32358636 2020
12
Pancreatitis in the developmentally anomalous pancreas. 61
31468154 2020
13
Modified Puestow Procedure for Chronic Pancreatitis in a Child Due to Annular Pancreas and Duodenal Duplication: A Case Report. 61
32483552 2020
14
Feeding problems and gastrointestinal diseases in Down syndrome. 61
31784293 2020
15
Endoscopic visualization of annular pancreas after duodenoduodenostomy. 61
31922076 2020
16
The uncommon loop: Circumportal annular pancreas. 61
31853133 2019
17
[A Case of Long-Term Survival of a Postoperative Recurrence of Duodenal Papilla Adenosquamous Carcinoma Associated with the Annular Pancreas]. 61
32156923 2019
18
Sufu- and Spop-mediated downregulation of Hedgehog signaling promotes beta cell differentiation through organ-specific niche signals. 61
31604927 2019
19
Comparison of outcomes between complete and incomplete congenital duodenal obstruction. 61
31391773 2019
20
Outcome of Management of Neonatal Intestinal Obstruction at a Tertiary Center in Nigeria. 61
31579370 2019
21
Duodenal obstruction due to chronic pancreatitis of the pancreas tail treated by surgical intervention: A case report. 61
31277088 2019
22
[Clinical analysis of annular pancreas in neonates]. 61
31901020 2019
23
The main radiologic findings in annular pancreas. 61
31435094 2019
24
Annular pancreas, cause of abdominal pain: Case report 61
31618567 2019
25
Portal annular pancreas: A case report. 61
30852073 2019
26
Annular pancreas in a 24-year-old woman with persistent abdominal pain. 61
31227569 2019
27
Diagnostic value of the acute angle between the prestenotic and poststenotic duodenum in neonatal annular pancreas. 61
30617479 2019
28
Central pancreatectomy in portal annular pancreas for metastatic renal cell carcinoma: a case report. 61
31039791 2019
29
Clinical spectrum of adult patients with annular pancreas: Findings from a large single institution cohort. 61
30660391 2019
30
Annular pancreas: endoscopic and pancreatographic findings from a tertiary referral ERCP center. 61
30240880 2019
31
Pancreaticobiliary maljunction diagnosed long after laparotomy in the neonatal period for annular pancreas: report of a case. 61
30707318 2019
32
Annular Pancreas in Adults: Case Report and Literature Review. 61
30855730 2019
33
[A case of polysplenia syndrome with annular pancreas and agenesis of the dorsal pancreas]. 61
31597883 2019
34
Laparoscopic Roux-en Y duodenojejunostomy: A safe and physiological treatment for symptomatic annular pancreas in adults. 61
30618433 2019
35
Endoscopic Treatment of Duodenal Web in Association With Annular Pancreas in an Infant. 61
29570140 2018
36
Annular Pancreas in an Adult Presenting with Acute Pancreatitis. 61
30651906 2018
37
Management of portal annular pancreas during laparoscopic pancreaticoduodenectomy. 61
29582803 2018
38
Crocodile jaw sign: Annular pancreas. 61
30309083 2018
39
C-11 Choline and F-18 Fluciclovine PET/CT demonstration of annular pancreas. 61
29631936 2018
40
Annular pancreas in China: 9 years' experience from a single center. 61
29909441 2018
41
Duodenal and Bile Duct Narrowing Due to Partial Annular Pancreas: A Rare Association. 61
31331147 2018
42
Laparoscopic Roux-en-Y duodenojejunostomy for annular pancreas in adults: case report and literature review. 61
30023374 2018
43
Annular Pancreas in Adult. 61
29791990 2018
44
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. 61
29288792 2018
45
[Complications after laparoscopic Ladd operation for intestinal malrotation in neonates]. 61
30226329 2018
46
A newborn patient with both annular pancreas and Meckel's diverticulum: A case report of an unusual association. 61
29703052 2018
47
Portal Annular Pancreas: Case Report of a Rare Anomaly. 61
29805935 2018
48
Imaging mimics of pancreatic ductal adenocarcinoma. 61
29038855 2018
49
Erb's palsy complicating a case of annular pancreas. 61
29689736 2018
50
Annular pancreas. An unusual intraoperative finding. 61
28527819 2018

Variations for Pancreas, Annular

Expression for Pancreas, Annular

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

Pathways for Pancreas, Annular

Pathways related to Pancreas, Annular according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.43 SHH IHH
2
Show member pathways
9.9 SHH IHH

GO Terms for Pancreas, Annular

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.87 STRA6 SHH FOXL1 FOXF1
2 lung development GO:0030324 9.77 STRA6 SHH FOXF1
3 smoothened signaling pathway GO:0007224 9.71 SHH IHH FOXF1
4 camera-type eye development GO:0043010 9.7 STRA6 SHH IHH
5 branching involved in blood vessel morphogenesis GO:0001569 9.65 SHH IHH
6 vasculature development GO:0001944 9.64 SHH IHH
7 developmental growth GO:0048589 9.64 STRA6 SHH
8 embryonic pattern specification GO:0009880 9.63 SHH IHH
9 lung morphogenesis GO:0060425 9.63 SHH FOXF1
10 protein autoprocessing GO:0016540 9.62 SHH IHH
11 epithelial tube branching involved in lung morphogenesis GO:0060441 9.62 SHH FOXF1
12 somite development GO:0061053 9.61 SHH IHH
13 digestive tract morphogenesis GO:0048546 9.61 STRA6 SHH
14 morphogenesis of a branching structure GO:0001763 9.59 IHH FOXF1
15 positive regulation of alpha-beta T cell differentiation GO:0046638 9.58 SHH IHH
16 positive regulation of T cell differentiation in thymus GO:0033089 9.58 SHH IHH
17 head morphogenesis GO:0060323 9.56 STRA6 IHH
18 embryonic foregut morphogenesis GO:0048617 9.55 SHH FOXF1
19 pancreas development GO:0031016 9.54 SHH IHH FOXF1
20 lung lobe morphogenesis GO:0060463 9.51 SHH FOXF1
21 respiratory tube development GO:0030323 9.49 SHH FOXF1
22 lung vasculature development GO:0060426 9.48 STRA6 FOXF1
23 ductus arteriosus closure GO:0097070 9.46 STRA6 FOXF1
24 trachea development GO:0060438 9.43 SHH FOXF1
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.43 SHH IHH FOXF1
26 negative regulation of alpha-beta T cell differentiation GO:0046639 9.4 SHH IHH
27 embryonic digestive tract development GO:0048566 9.33 STRA6 SCT FOXF1
28 intein-mediated protein splicing GO:0016539 9.32 SHH IHH
29 embryonic digestive tract morphogenesis GO:0048557 9.13 SHH IHH FOXF1
30 smooth muscle tissue development GO:0048745 8.8 STRA6 SHH IHH

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 SHH IHH

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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