KEGG DISEASE: Pancreatic agenesis

KEGG

DISEASE: Pancreatic agenesis

Entry

H00861                      Disease

Name

Pancreatic agenesis

Description

Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter factor 1 (IPF1), an essential factor for pancreas development, decrease the protein level and lead to the disease.

Category

Digestive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the liver, biliary tract, pancreas or spleen
    LB21  Structural developmental anomalies of pancreas
     H00861  Pancreatic agenesis

Pathway

Insulin secretion

Gene

(PAGEN1) PDX1 [HSA:3651] [KO:K07594]
(PAGEN2) PTF1A [HSA:256297] [KO:K09073]
(PAGEN3) ZNF808 [HSA:388558] [KO:K27999]

Other DBs

ICD-11:

OMIM:

260370 615935 620991

Reference

PMID:8988180 (PAGEN1)

Authors

Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF

Title

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

Journal

Nat Genet 15:106-10 (1997)
DOI:10.1038/ng0197-106

Reference

PMID:12970316 (PAGEN1)

Authors

Schwitzgebel VM, Mamin A, Brun T, Ritz-Laser B, Zaiko M, Maret A, Jornayvaz FR, Theintz GE, Michielin O, Melloul D, Philippe J

Title

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

Journal

J Clin Endocrinol Metab 88:4398-406 (2003)
DOI:10.1210/jc.2003-030046

Reference

PMID:24212882 (PAGEN2)

Authors

Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodriguez-Segui SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A, Ellard S, Ferrer J, Hattersley AT

Title

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Journal

Nat Genet 46:61-64 (2014)
DOI:10.1038/ng.2826

Reference

PMID:37973953 (PAGEN3)

Authors

De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimaki-Vire J, Triantou A, Ibrahim H, Balboa D, Caswell RC, Jennings RE, Kvist JA, Johnson MB, Muralidharan S, Ellard S, Wright CF, Maddirevula S, Alkuraya FS, Hanley NA, Flanagan SE, Otonkoski T, Hattersley AT, Imbeault M

Title

Primate-specific ZNF808 is essential for pancreatic development in humans.

Journal

Nat Genet 55:2075-2081 (2023)
DOI:10.1038/s41588-023-01565-x

LinkDB

» Japanese version

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