MCID: PNC118
MIFTS: 43

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 duodenal obstruction and esophageal atresia. An important gene associated with Pancreas, Annular is FOXF1 (Forkhead Box F1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Signaling events mediated by the Hedgehog family. Affiliated tissues include pancreas, kidney and heart, 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 : 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 116)
# Related Disease Score Top Affiliating Genes
1 duodenal obstruction 30.7 TEF SPINK1
2 esophageal atresia 30.4 TEF SHH FOXF1
3 vater/vacterl association 30.0 PTF1A FOXF1
4 intestinal atresia 29.8 TEF RFX6 MTHFSD FOXF1
5 duodenal atresia 29.6 TEF SHH RTP5 RFX6 FOXF1
6 exocrine pancreatic insufficiency 29.5 SPINK1 PTF1A PPY
7 pancreatitis 29.4 SPINK1 PTF1A PPY
8 vacterl association 29.3 TEF SHH PTF1A MTHFSD FOXL1 FOXF1
9 mitchell-riley syndrome 11.3
10 intestinal obstruction 10.3
11 hernia, hiatus 10.3 TEF FOXF1
12 down syndrome 10.3
13 pancreatic cancer 10.3
14 choanal atresia, posterior 10.2 TEF SHH
15 chromosomal triplication 10.2
16 diaphragm disease 10.1 TEF STRA6
17 cholelithiasis 10.1
18 gastric ulcer 10.1
19 adenocarcinoma 10.1
20 insulinoma 10.1
21 situs inversus 10.1
22 feingold syndrome 1 10.1 MTHFSD FOXF1
23 donnai-barrow syndrome 10.1 STRA6 SHH
24 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 RFX6 PTF1A
25 anus, imperforate 10.0 TEF SHH MTHFSD FOXF1
26 meckel diverticulum 10.0
27 tracheoesophageal fistula with or without esophageal atresia 10.0
28 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
29 duodenal ulcer 10.0
30 acalculous cholecystitis 10.0
31 peritonitis 10.0
32 polyhydramnios 10.0
33 cholangitis 10.0
34 recurrent acute pancreatitis 10.0
35 pallister-hall syndrome 10.0 SHH MTHFSD IHH FOXF1
36 diaphragmatic hernia, congenital 9.9 TEF STRA6 SHH FOXF1
37 nonspecific interstitial pneumonia 9.9 SHH FOXF1
38 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
39 cornelia de lange syndrome 1 9.8
40 ehlers-danlos syndrome, classic type, 2 9.8
41 epicanthus 9.8
42 exostoses, multiple, type i 9.8
43 hirschsprung disease 1 9.8
44 renal cell carcinoma, nonpapillary 9.8
45 jacobsen syndrome 9.8
46 trichorhinophalangeal syndrome, type ii 9.8
47 polykaryocytosis inducer 9.8
48 trichorhinophalangeal syndrome, type i 9.8
49 renal hypodysplasia/aplasia 1 9.8
50 bronchomalacia 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:

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

Symptoms via clinical synopsis from OMIM:

56
G I:
annular pancreas
duodenal stenosis
high intestinal obstruction

Clinical features from OMIM:

167750

MGI Mouse Phenotypes related to Pancreas, Annular:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.17 FOXF1 FOXL1 IHH PTF1A RFX6 SHH

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, Heart, Colon, Small Intestine, Liver, Bone

Publications for Pancreas, Annular

Articles related to Pancreas, Annular:

(show top 50) (show all 726)
# Title Authors PMID Year
1
Regulation of pancreas development by hedgehog signaling. 61 56
11044404 2000
2
Hedgehog signals regulate multiple aspects of gastrointestinal development. 61 56
10821773 2000
3
Annular pancreas in two sisters. 61 56
8533856 1995
4
Annular pancreas in a mother and daughter. 61 56
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. 61 56
677171 1978
8
Report of a case of annular pancreas of the newborn in two consecutive siblings. 61 56
5561869 1971
9
Feeding problems and gastrointestinal diseases in Down syndrome. 61
31784293 2020
10
Endoscopic visualization of annular pancreas after duodenoduodenostomy. 61
31922076 2020
11
The uncommon loop: Circumportal annular pancreas. 61
31853133 2019
12
Sufu- and Spop-mediated downregulation of Hedgehog signaling promotes beta cell differentiation through organ-specific niche signals. 61
31604927 2019
13
Pancreatitis in the developmentally anomalous pancreas. 61
31468154 2019
14
Comparison of outcomes between complete and incomplete congenital duodenal obstruction. 61
31391773 2019
15
Outcome of Management of Neonatal Intestinal Obstruction at a Tertiary Center in Nigeria. 61
31579370 2019
16
Duodenal obstruction due to chronic pancreatitis of the pancreas tail treated by surgical intervention: A case report. 61
31277088 2019
17
The main radiologic findings in annular pancreas. 61
31435094 2019
18
[Clinical analysis of annular pancreas in neonates]. 61
31901020 2019
19
Annular pancreas, cause of abdominal pain: Case report 61
31618567 2019
20
Portal annular pancreas: A case report. 61
30852073 2019
21
Annular pancreas in a 24-year-old woman with persistent abdominal pain. 61
31227569 2019
22
Diagnostic value of the acute angle between the prestenotic and poststenotic duodenum in neonatal annular pancreas. 61
30617479 2019
23
Central pancreatectomy in portal annular pancreas for metastatic renal cell carcinoma: a case report. 61
31039791 2019
24
Clinical spectrum of adult patients with annular pancreas: Findings from a large single institution cohort. 61
30660391 2019
25
Annular pancreas: endoscopic and pancreatographic findings from a tertiary referral ERCP center. 61
30240880 2019
26
Pancreaticobiliary maljunction diagnosed long after laparotomy in the neonatal period for annular pancreas: report of a case. 61
30707318 2019
27
Annular Pancreas in Adults: Case Report and Literature Review. 61
30855730 2019
28
Annular Pancreas. 61
30710695 2019
29
[A case of polysplenia syndrome with annular pancreas and agenesis of the dorsal pancreas]. 61
31597883 2019
30
Laparoscopic Roux-en Y duodenojejunostomy: A safe and physiological treatment for symptomatic annular pancreas in adults. 61
30618433 2019
31
Endoscopic Treatment of Duodenal Web in Association With Annular Pancreas in an Infant. 61
29570140 2018
32
Crocodile jaw sign: Annular pancreas. 61
30309083 2018
33
Annular Pancreas in an Adult Presenting with Acute Pancreatitis. 61
30651906 2018
34
Management of portal annular pancreas during laparoscopic pancreaticoduodenectomy. 61
29582803 2018
35
Annular pancreas in China: 9 years' experience from a single center. 61
29909441 2018
36
C-11 Choline and F-18 Fluciclovine PET/CT demonstration of annular pancreas. 61
29631936 2018
37
Duodenal and Bile Duct Narrowing Due to Partial Annular Pancreas: A Rare Association. 61
31331147 2018
38
Laparoscopic Roux-en-Y duodenojejunostomy for annular pancreas in adults: case report and literature review. 61
30023374 2018
39
Annular Pancreas in Adult. 61
29791990 2018
40
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. 61
29288792 2018
41
[Complications after laparoscopic Ladd operation for intestinal malrotation in neonates]. 61
30226329 2018
42
A newborn patient with both annular pancreas and Meckel's diverticulum: A case report of an unusual association. 61
29703052 2018
43
Portal Annular Pancreas: Case Report of a Rare Anomaly. 61
29805935 2018
44
Imaging mimics of pancreatic ductal adenocarcinoma. 61
29038855 2018
45
Pancreaticoduodenectomy for an Ampullary Region Carcinoma Occurred in Annular Pancreas Coexistent with Replaced Common Hepatic Artery. 61
29560005 2018
46
Complete Annular Pancreas with Concurrent Entero-Pancreatico-Biliary Symptoms in Adult: A Case Report. 61
29459613 2018
47
[Portal annular pancreas]. 61
30560859 2018
48
Erb's palsy complicating a case of annular pancreas. 61
29689736 2018
49
Annular pancreas. An unusual intraoperative finding. 61
28527819 2018
50
A rare cause of vomiting: annular pancreas. 61
29483805 2017

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 11.26 SHH PTF1A FOXF1
2
Show member pathways
10.63 SHH IHH
3
Show member pathways
9.9 SHH IHH

GO Terms for Pancreas, Annular

Cellular components related to Pancreas, Annular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 TEF RFX6 PTF1A FOXL1 FOXF1

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 TEF SHH RFX6 PTF1A IHH FOXF1
2 heart development GO:0007507 9.85 STRA6 SHH FOXL1 FOXF1
3 lung development GO:0030324 9.77 STRA6 SHH FOXF1
4 smoothened signaling pathway GO:0007224 9.69 SHH IHH FOXF1
5 camera-type eye development GO:0043010 9.67 STRA6 SHH IHH
6 cell fate specification GO:0001708 9.66 SHH IHH
7 neuron fate commitment GO:0048663 9.66 SHH PTF1A
8 developmental growth GO:0048589 9.65 STRA6 SHH
9 branching involved in blood vessel morphogenesis GO:0001569 9.65 SHH IHH
10 vasculature development GO:0001944 9.65 SHH IHH
11 embryonic pattern specification GO:0009880 9.64 SHH IHH
12 lung morphogenesis GO:0060425 9.64 SHH FOXF1
13 hindbrain development GO:0030902 9.63 SHH PTF1A
14 embryonic digestive tract development GO:0048566 9.63 STRA6 FOXF1
15 epithelial tube branching involved in lung morphogenesis GO:0060441 9.62 SHH FOXF1
16 somite development GO:0061053 9.61 SHH IHH
17 digestive tract morphogenesis GO:0048546 9.61 STRA6 SHH
18 morphogenesis of a branching structure GO:0001763 9.59 IHH FOXF1
19 renal system development GO:0072001 9.58 SHH FOXF1
20 smooth muscle tissue development GO:0048745 9.58 STRA6 IHH
21 positive regulation of alpha-beta T cell differentiation GO:0046638 9.57 SHH IHH
22 positive regulation of T cell differentiation in thymus GO:0033089 9.56 SHH IHH
23 head morphogenesis GO:0060323 9.54 STRA6 IHH
24 embryonic foregut morphogenesis GO:0048617 9.52 SHH FOXF1
25 lung lobe morphogenesis GO:0060463 9.48 SHH FOXF1
26 respiratory tube development GO:0030323 9.46 SHH FOXF1
27 lung vasculature development GO:0060426 9.43 STRA6 FOXF1
28 ductus arteriosus closure GO:0097070 9.4 STRA6 FOXF1
29 trachea development GO:0060438 9.37 SHH FOXF1
30 positive regulation of mesenchymal cell proliferation GO:0002053 9.33 SHH IHH FOXF1
31 negative regulation of alpha-beta T cell differentiation GO:0046639 9.32 SHH IHH
32 intein-mediated protein splicing GO:0016539 9.26 SHH IHH
33 embryonic digestive tract morphogenesis GO:0048557 9.13 SHH IHH FOXF1
34 pancreas development GO:0031016 8.92 SHH PTF1A IHH FOXF1

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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