omim.org

Online Mendelian Inheritance in Man (OMIM)

  • ️Tue Dec 09 1997

  1. Anonymous. It takes a family. (Editorial) Nature Genet. 14: 117-118, 1996. [PubMed: 8841172] [Full Text: https://doi.org/10.1038/ng1096-117]

  2. Appel, M. F. Hereditary pancreatitis: review and presentation of an additional kindred. Arch. Surg. 108: 63-65, 1974. [PubMed: 4808576] [Full Text: https://doi.org/10.1001/archsurg.1974.01350250053014]

  3. Audrezet, M.-P., Chen, J.-M., Le Marechal, C., Ruszniewski, P., Robaszkiewicz, M., Raguenes, O., Quere, I., Scotet, V., Ferec, C. Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic pancreatitis. Europ. J. Hum. Genet. 10: 100-106, 2002. [PubMed: 11938439] [Full Text: https://doi.org/10.1038/sj.ejhg.5200786]

  4. Carey, M. C., Fitzgerald, O. Hyperparathyroidism associated with chronic pancreatitis in a family. Gut 9: 700-703, 1968. [PubMed: 5717972] [Full Text: https://doi.org/10.1136/gut.9.6.700]

  5. Chang, M.-C., Chang, Y.-T., Wei, S.-C., Tien, Y.-W., Liang, P.-C., Jan, I.-S., Su, Y.-N., Wong, J.-M. Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis. Clin. Genet. 71: 530-539, 2007. [PubMed: 17539902] [Full Text: https://doi.org/10.1111/j.1399-0004.2007.00813.x]

  6. Chen, J.-M., Mercier, B., Audrezet, M.-P., Ferec, C. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J. Med. Genet. 37: 67-69, 2000. [PubMed: 10691414] [Full Text: https://doi.org/10.1136/jmg.37.1.67]

  7. Chiara, H. Ueber Selbstverdauung des menschlichen Pankreas. Ztschr. Heilkunde 17: 70-96, 1896.

  8. Cohn, J. A., Friedman, K. J., Noone, P. G., Knowles, M. R., Silverman, L. M., Jowell, P. S. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. New Eng. J. Med. 339: 653-658, 1998. [PubMed: 9725922] [Full Text: https://doi.org/10.1056/NEJM199809033391002]

  9. Comfort, M. W., Steinberg, A. G. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 21: 54-63, 1952. [PubMed: 14926813]

  10. Dalton-Clarke, H. J., Lewis, M. H., Levi, A. J., Blumgart, L. H. Familial chronic calcific pancreatitis: a family study. Brit. J. Surg. 72: 307-308, 1985. [PubMed: 3986484] [Full Text: https://doi.org/10.1002/bjs.1800720421]

  11. Dasouki, M. J., Cogan, J., Summar, M. L., Neblitt, W., III, Foroud, T., Koller, D., Phillips, J. A., III. Heterogeneity in hereditary pancreatitis. Am. J. Med. Genet. 77: 47-53, 1998. [PubMed: 9557894]

  12. Davidson, P., Costanza, D., Swieconek, J. A., Harris, J. B. Hereditary pancreatitis: a kindred without gross aminoaciduria. Ann. Intern. Med. 68: 88-96, 1968. [PubMed: 5635333] [Full Text: https://doi.org/10.7326/0003-4819-68-1-88]

  13. Ferec, C., Raguenes, O., Salomon, R., Roche, C., Bernard, J. P., Guillot, M., Quere, I., Faure, C., Mercier, B., Audrezet, M. P., Guillausseau, P. J., Dupont, C., Munnich, A., Bignon, J. D., Le Bodic, L. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. J. Med. Genet. 36: 228-232, 1999. [PubMed: 10204851]

  14. Freeman, H. J., Weinstein, W. M., Shnitka, T. K., Crockford, P. M., Herbert, F. A. Alpha-1-antitrypsin deficiency and pancreatic fibrosis. Ann. Intern. Med. 85: 73-76, 1976. [PubMed: 1084722] [Full Text: https://doi.org/10.7326/0003-4819-85-1-73]

  15. Freud, E., Barak, R., Ziv, N., Leiser, A., Dinari, G., Mor, C., Zer, M. Familial chronic recurrent pancreatitis in identical twins: case report and review of the literature. Arch. Surg. 127: 1125-1128, 1992. [PubMed: 1514916] [Full Text: https://doi.org/10.1001/archsurg.1992.01420090133020]

  16. Girard, R. M., Archambault, A. Hereditary chronic pancreatitis. (Letter) New Eng. J. Med. 303: 286-287, 1980. [PubMed: 7383121] [Full Text: https://doi.org/10.1056/NEJM198007313030520]

  17. Gorry, M. C., Gabbaizedeh, D., Furey, W., Gates, L. K., Jr., Preston, R. A., Aston, C. E., Zhang, Y., Ulrich, C., Ehrlich, G. D., Whitcomb, D. C. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 113: 1063-1068, 1997. [PubMed: 9322498] [Full Text: https://doi.org/10.1053/gast.1997.v113.pm9322498]

  18. Gross, J. B., Gambill, E. E., Ulrich, J. A. Hereditary pancreatitis. Description of a fifth kindred and summary of clinical features. Am. J. Med. 33: 358-364, 1962. [PubMed: 13902224] [Full Text: https://doi.org/10.1016/0002-9343(62)90232-2]

  19. Gross, J. B., Ulrich, J. A., Jones, J. D. Urinary excretion of amino acids in a kindred with hereditary pancreatitis and aminoaciduria. Gastroenterology 47: 41-48, 1964. [PubMed: 14184345]

  20. Kattwinkel, J., Lapey, A., Di Sant'Agnese, P. A., Edwards, W. A., Huffy, M. P. Hereditary pancreatitis: three new kindreds and a critical review of the literature. Pediatrics 51: 55-69, 1973. [PubMed: 4567584]

  21. Kiraly, O., Boulling, A., Witt, H., Le Marechal, C., Chen, J.-M., Rosendahl, J., Battaggia, C., Wartmann, T., Sahin-Toth, M., Feree, C. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum. Mutat. 28: 469-476, 2007. [PubMed: 17274009] [Full Text: https://doi.org/10.1002/humu.20471]

  22. Le Bodic, L., Bignon, J.-D., Raguenes, O., Mercier, B., Georgelin, T., Schnee, M., Soulard, F., Gagne, K., Bonneville, F., Muller, J.-Y., Bachner, L., Ferec, C. The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum. Molec. Genet. 5: 549-554, 1996. [PubMed: 8845851] [Full Text: https://doi.org/10.1093/hmg/5.4.549]

  23. Lewis, M. P. N., Gazet, J.-C. Hereditary calcific pancreatitis in an English family. Brit. J. Surg. 80: 487-488, 1993. [PubMed: 8495318] [Full Text: https://doi.org/10.1002/bjs.1800800427]

  24. Lowenfels, A. B., Maisonneuve, P., DiMagno, E. P., Elitsur, Y., Gates, L. K., Jr., Perrault, J., Whitcomb, D. C., The International Hereditary Pancreatitis Study Group. Hereditary pancreatitis and the risk of pancreatic cancer. J. Nat. Cancer Inst. 89: 442-446, 1997. [PubMed: 9091646] [Full Text: https://doi.org/10.1093/jnci/89.6.442]

  25. Makela, P., Aarimaa, M. Pancreatography in a family with hereditary pancreatitis. Acta Radiol. Diagn. (Stockh.) 26: 63-66, 1985. [PubMed: 3976423] [Full Text: https://doi.org/10.1177/028418518502600110]

  26. Mann, T. P., Rubin, J. Familial pancreatic exocrine dysfunction with pancreatic calcification. Proc. Roy. Soc. Med. 62: 326, 1969. [PubMed: 5811932]

  27. Masson, E., Chen, J.-M., Scotet, V., Le Marechal, C., Ferec, C. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum. Genet. 123: 83-91, 2008. [PubMed: 18172691] [Full Text: https://doi.org/10.1007/s00439-007-0459-3]

  28. McElroy, R., Christiansen, P. A. Hereditary pancreatitis in a kinship associated with portal vein thrombosis. Am. J. Med. 52: 228-241, 1972. [PubMed: 5062005] [Full Text: https://doi.org/10.1016/0002-9343(72)90072-1]

  29. Moore, P. C., Cortez, J. T., Chamberlain, C. E., Alba, D., Berger, A. C., Quandt, Z., Chan, A., Cheng, M. H., Bautista, J. L., Peng, J., German, M. S., Anderson, M. S., Oakes, S. A. Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma. J. Clin. Invest. 129: 4676-4681, 2019. [PubMed: 31369399] [Full Text: https://doi.org/10.1172/JCI129961]

  30. Pandya, A., Blanton, S. H., Landa, B., Javaheri, R., Melvin, E., Nance, W. E., Markello, T. Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics 38: 227-230, 1996. [PubMed: 8954806] [Full Text: https://doi.org/10.1006/geno.1996.0620]

  31. Riccardi, V. M., Shih, V. E., Holmes, L. B., Nardi, G. L. Hereditary pancreatitis--nonspecificity of aminoaciduria and diagnosis of occult disease. Arch. Intern. Med. 135: 822-825, 1975. [PubMed: 1130928] [Full Text: https://doi.org/10.1001/archinte.135.6.822]

  32. Robechek, P. J. Hereditary chronic relapsing pancreatitis: a clue to pancreatitis in general? Am. J. Surg. 113: 819-824, 1967. [PubMed: 6023921] [Full Text: https://doi.org/10.1016/0002-9610(67)90354-6]

  33. Rosendahl, J., Witt, H., Szmola, R., Bhatia, E., Ozsvari, B., Landt, O., Schulz, H.-U., Gress, T. M., Ptufzer, R., Lohr, M., Kovacs, P., Bluher, M., and 22 others. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nature Genet. 40: 78-82, 2008. [PubMed: 18059268] [Full Text: https://doi.org/10.1038/ng.2007.44]

  34. Rowen, L., Koop, B. F., Hood, L. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus. Science 272: 1755-1762, 1996. [PubMed: 8650574] [Full Text: https://doi.org/10.1126/science.272.5269.1755]

  35. Rumenapf, G., Kamm, M., Rupprecht, H., Scheele, J. Surgical management of hereditary pancreatitis: report of a case and presentation of a new family. (Letter) Pancreas 9: 398-399, 1994. [PubMed: 8022767] [Full Text: https://doi.org/10.1097/00006676-199405000-00022]

  36. Sarles, H., Camarena, J., Bernard, J. P., Sahel, J., Laugier, R. Two forms of hereditary chronic pancreatitis. Pancreas 12: 138-141, 1996. [PubMed: 8720659] [Full Text: https://doi.org/10.1097/00006676-199603000-00005]

  37. Sarles, H., De Caro, A., Multigner, L., Martin, E. Giant pancreatic stones in teetotal women due to absence of the 'stone protein'? (Letter) Lancet 320: 714-715, 1982. Note: Originally Volume II. [PubMed: 6126647] [Full Text: https://doi.org/10.1016/s0140-6736(82)90734-6]

  38. Sato, T., Saitoh, Y. Familial chronic pancreatitis associated with pancreatic lithiasis. Am. J. Surg. 127: 511-517, 1974. [PubMed: 4822365] [Full Text: https://doi.org/10.1016/0002-9610(74)90307-9]

  39. Schlesinger, D. H., Hay, D. I. Complete covalent structure of statherin, a tyrosine-rich acidic peptide which inhibits calcium phosphate precipitation from human parotid saliva. J. Biol. Chem. 252: 1689-1695, 1977. [PubMed: 838735]

  40. Sharer, N., Schwarz, M., Malone, G., Howarth, A., Painter, J., Super, M., Braganza, J. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. New Eng. J. Med. 339: 645-652, 1998. [PubMed: 9725921] [Full Text: https://doi.org/10.1056/NEJM199809033391001]

  41. Sibert, J. R. Hereditary pancreatitis in a Newcastle family. Arch. Dis. Child. 48: 618-621, 1973. [PubMed: 4783002] [Full Text: https://doi.org/10.1136/adc.48.8.618]

  42. Sibert, J. R. Hereditary pancreatitis in England and Wales. J. Med. Genet. 15: 189-201, 1978. [PubMed: 671483] [Full Text: https://doi.org/10.1136/jmg.15.3.189]

  43. Singer, M., Cohen, F. B. Hereditary chronic relapsing pancreatitis. J. Newark Beth Israel Hosp. 21: 121-126, 1966.

  44. Steer, M. L., Meldolesi, J. The cell biology of experimental pancreatitis. New Eng. J. Med. 316: 144-150, 1987. [PubMed: 3540666] [Full Text: https://doi.org/10.1056/NEJM198701153160306]

  45. Tzetis, M., Kaliakatsos, M., Fotoulaki, M., Papatheodorou, A., Doudounakis, S., Tsezou, A., Makrythanasis, P., Kanavakis, E., Nousia-Arvanitakis, S. Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. Clin. Genet. 71: 451-457, 2007. [PubMed: 17489851] [Full Text: https://doi.org/10.1111/j.1399-0004.2007.00788.x]

  46. Whitcomb, D. C., Gorry, M. C., Preston, R. A., Furey, W., Sossenheimer, M. J., Ulrich, C. D., Martin, S. P., Gates, L. K., Jr., Amann, S. T., Toskes, P. P., Liddle, R., McGrath, K., Uomo, G., Post, J. C., Ehrlich, G. D. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nature Genet. 14: 141-145, 1996. [PubMed: 8841182] [Full Text: https://doi.org/10.1038/ng1096-141]

  47. Whitcomb, D. C., Preston, R. A., Aston, C. E., Sossenheimer, M. J., Barua, P. S., Zhang, Y., Wong-Chong, A., White, G. J., Wood, P. G., Gates, L. K., Jr., Ulrich, C., Martin, S. P., Post, J. C., Ehrlich, G. D. A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology 110: 1975-1980, 1996. [PubMed: 8964426] [Full Text: https://doi.org/10.1053/gast.1996.v110.pm8964426]

  48. Whitcomb, D. C. Personal Communication. Pittsburgh, Pa. 12/9/1997.

  49. Witt, H., Luck, W., Hennies, H. C., Classen, M., Kage, A., Lass, U., Landt, O., Becker, M. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nature Genet. 25: 213-216, 2000. [PubMed: 10835640] [Full Text: https://doi.org/10.1038/76088]