Literature DB >> 8071961

Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

T Yorifuji1, M Matsumura, T Okuno, K Shimizu, T Sonomura, J Muroi, C Kuno, Y Takahashi, T Okuno.   

Abstract

We report on a Japanese family with hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease. The disease was apparently inherited as an autosomal dominant trait. The patients in this family had no major anomalies other than those of the heart and pancreas. To our knowledge, this combination has not previously been reported.

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Year:  1994        PMID： 8071961      PMCID： PMC1049809          DOI： 10.1136/jmg.31.4.331

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  19 in total

1.  Congenital hypoplasia of the dorsal pancreas: with special reference to duodenal papillary dysfunction.

Authors:  I Nishimori; K Okazaki; M Morita; M Miyao; Y Sakamoto; S Kagiyama; Y Yamamoto; Y Yamamoto
Journal:  Am J Gastroenterol       Date:  1990-08       Impact factor: 10.864

2.  Partial pancreatic agenesis combined with pancreas divisum and duodenum reflexum.

Authors:  G A Lehman; K K Kopecky; J D Rogge
Journal:  Gastrointest Endosc       Date:  1987-12       Impact factor: 9.427

3.  A "short pancreas".

Authors:  E Rosenstock; E Achkar
Journal:  Gastrointest Endosc       Date:  1986-08       Impact factor: 9.427

4.  Congenital short pancreas: a report of two cases.

Authors:  N H Gilinsky; G Del Favero; P B Cotton; W R Lees
Journal:  Gut       Date:  1985-03       Impact factor: 23.059

5.  Syndrome of externally bilobed lungs with normal bronchial branch pattern, congenital heart disease, multiple spleens, intestinal malrotation and short pancreas: an apparently hitherto undefined malformation complex.

Authors:  C Hatayama; T R Wells
Journal:  Pediatr Pathol       Date:  1984

6.  Agenesis of the dorsal pancreas in an adult diabetic presenting with duodenal ileus.

Authors:  G W Lechner; R C Read
Journal:  Ann Surg       Date:  1966-02       Impact factor: 12.969

7.  Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency.

Authors:  W E Winter; N K Maclaren; W J Riley; P P Toskes; J Andres; A L Rosenbloom
Journal:  J Pediatr       Date:  1986-09       Impact factor: 4.406

8.  Calcifying pancreatitis of a congenital short pancreas: a case report with successful endoscopic papillotomy.

Authors:  J F Bretagne; P Darnault; J L Raoul; Y Gandon; M Gosselin; P Cousin; J Gastard
Journal:  Am J Gastroenterol       Date:  1987-12       Impact factor: 10.864

Review 9.  Agenesis of the dorsal pancreas in a woman with diabetes mellitus and in both of her sons.

Authors:  R Wildling; W J Schnedl; E C Reisinger; F Schreiber; R W Lipp; A Lederer; G J Krejs
Journal:  Gastroenterology       Date:  1993-04       Impact factor: 22.682

10.  CT diagnosis of dorsal pancreas agenesis.

Authors:  K K Shah; P H DeRidder; R E Schwab; T J Alexander
Journal:  J Comput Assist Tomogr       Date:  1987 Jan-Feb       Impact factor: 1.826
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  7 in total

1.  Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.

Authors:  Inas H Thomas; Natinder K Saini; Amita Adhikari; Joyce M Lee; Josephine Z Kasa-Vubu; Delia M Vazquez; Ram K Menon; Ming Chen; Stefan S Fajans
Journal:  Pediatr Diabetes       Date:  2009-06-03       Impact factor: 4.866

Review 2.  Agenesis of the dorsal pancreas and associated diseases.

Authors:  Wolfgang J Schnedl; Claudia Piswanger-Soelkner; Sandra J Wallner; Pia Reittner; Robert Krause; Rainer W Lipp; Hans E Hohmeier
Journal:  Dig Dis Sci       Date:  2008-07-11       Impact factor: 3.199

3.  Aplasia of the dorsal pancreas and choledochal cyst.

Authors:  Noboru Oyachi; Youkatsu Ohhama; Hiroshi Take; Yoshimitsu Fukuzato; Toru Murakami; Norihiko Kitagawa; Hironori Kudo
Journal:  Pediatr Surg Int       Date:  2006-02-11       Impact factor: 1.827

4.  A Rare Case of Dorsal Agenesis of Pancreas, Choledochal Cyst, and Hirschsprung Disease in a Young Patient.

Authors:  Uday Kumar Chapa; Souradeep Dutta; Athul Minija Remesh; Ankit Jain; Reddy Abhinaya; Vishnu Prasad Nelamangala Ramakrishnaiah
Journal:  ACG Case Rep J       Date:  2021-04-26

5.  Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report.

Authors:  Atsushi Nakao; Tomohiro Takeda; Yoshiya Hisaeda; Atsushi Hirota; Syusuke Amagata; Yuko Sakurai; Tadashi Kawakami
Journal:  AJP Rep       Date:  2013-08-14

Review 6.  Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

Authors:  Michel Polak; Hélène Cavé
Journal:  Orphanet J Rare Dis       Date:  2007-03-09       Impact factor: 4.123

7.  Monogenic and syndromic diabetes due to endoplasmic reticulum stress.

Authors:  Stephen I Stone; Damien Abreu; Janet B McGill; Fumihiko Urano
Journal:  J Diabetes Complications       Date:  2020-05-08       Impact factor: 2.852
  7 in total

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