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congenital chloride diarrhea

MIM.214700 7q22-q31.1

Thursday 25 March 2010

Loci

- DIAR1, MIM.214700, 7q22-q31.1

Congenital chloride diarrhea (DIAR1) is caused by mutation in the SLC26A3 gene (MIM.126650) on chromosome 7q31.

Nota bene: Other forms of congenital diarrhea include:
- microvillus inclusion disease (DIAR2; MIMI.251850), caused by mutation in the MYO5B gene (MIM.606540) on chromosome 18q21;
- a syndromic form of congenital secretory sodium diarrhea (DIAR3, MIM.270420), caused by mutation in the SPINT2 gene (MIM.605124);
- a malabsorptive congenital diarrhea (DIAR4; MIM.610370), caused by mutation in the NEUROG3 gene (MIM.604882) on chromosome 10q21.3;
- congenital tufting enteropathy (DIAR5; MIM.613217), caused by mutation in the TACSTD1 gene (MIM.185535).

See also

- congenital diarrhea

References

- Aichbichler, B. W.; Zerr, C. H.; Santa Ana, C. A.; Porter, J. L.; Fordtran, J. S. :
Proton-pump inhibition of gastric chloride secretion in congenital chloridorrhea. New Eng. J. Med. 336: 106-109, 1997. PubMed ID : 8988888

- Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea. Lancet 325: 1066-1069, 1985. Note: Originally Volume I.

- Hartikainen-Sorri, A.-L.; Tuimala, R.; Koivisto, M. : Congenital chloride diarrhea: possibility for prenatal diagnosis. Acta Paediat. Scand. 69: 807-808, 1980. PubMed ID : 7211368

- Hoglund, P.; Haila, S.; Scherer, S. W.; Tsui, L.-C.; Green, E. D.; Weissenbach, J.; Holmberg, C.; de la Chapelle, A.; Kere, J. : Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. Genome Res. 6: 202-210, 1996. PubMed ID : 8963897

- Hoglund, P.; Haila, S.; Socha, J.; Tomaszewski, L.; Saarialho-Kere, U.; Karjalainen-Lindsberg, M.-L.; Airola, K.; Holmberg, C.; de la Chapelle, A.; Kere, J. : Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nature Genet. 14: 316-319, 1996. PubMed ID : 8896562

- Hoglund, P.; Holmberg, C.; de la Chapelle, A.; Kere, J. : Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am. J. Hum. Genet. 55: 747-752, 1994. PubMed ID : 7942853

- Holmberg, C.; Perheentupa, J. : Congenital chloride diarrhea (CCD).In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. : Population Structure and Genetic Disorders. New York: Academic Press (pub.) 1980. Pp. 596-599.

- Kere, J.; Sistonen, P.; Holmberg, C.; de la Chapelle, A. : The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. Proc. Nat. Acad. Sci. 90: 10686-10689, 1993. PubMed ID : 7504277

- Spotila, L. D.; Sereda, L.; Prockop, D. J. : Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am. J. Hum. Genet. 51: 1396-1405, 1992. PubMed ID : 1463018

- Voss, R.; Ben-Simon, E.; Avital, A.; Godfrey, S.; Zlotogora, J.; Dagan, J.; Tikochinski, T.; Hillel, J. : Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am. J. Hum. Genet. 45: 373-380, 1989. PubMed ID : 2570528

- Lubani, M. M.; Doudin, K. I.; Sharda, D. C.; Shaltout, A. A.; Al-Shab, T. S.; Abdul Al, Y. K.; Said, M. A.; Salhi, M. M.; Ahmed, S. A. : Congenital chloride diarrhoea in Kuwaiti children. Europ. J. Pediat. 148: 333-336, 1989. PubMed ID : 2651131

- Spence, J. E.; Perciaccante, R. G.; Greig, G. M.; Willard, H. F.; Ledbetter, D. H.; Hejtmancik, J. F.; Pollack, M. S.; O’Brien, W. E.; Beaudet, A. L. : Uniparental disomy as a mechanism for human genetic disease. Am. J. Hum. Genet. 42: 217-226, 1988. PubMed ID : 2893543

- Turnberg, L. A. : Abnormalities in intestinal electrolyte transport in congenital chloridorrhoea. Gut 12: 544-551, 1971. PubMed ID : 5559143

- Yssing, M.; Friis-Hansen, B. : Congenital alkalosis with diarrhea. Acta Paediat. Scand. 55: 341-344, 1966. PubMed ID : 5960348

- Minford, A. M. B.; Barr, D. G. D. : Prostaglandin synthetase inhibitor in an infant with congenital chloride diarrhea. Arch. Dis. Child. 55: 70-72, 1980. PubMed ID : 7377823

- Holmberg, C.; Perheentupa, J.; Launiala, K.; Hallman, N. : Congenital chloride diarrhoea: clinical analysis of 21 Finnish patients. Arch. Dis. Child. 52: 255-267, 1977. PubMed ID : 324405

- Holmberg, C.; Perheentupa, J.; Launiala, K. : Colonic electrolyte transport in health and in congenital chloride diarrhea. J. Clin. Invest. 56: 302-310, 1975. PubMed ID : 1150872

- Gorden, P.; Levitin, H. : Congenital alkalosis with diarrhea: a sequel to Darrow’s original description. Ann. Intern. Med. 78: 876-882, 1973. PubMed ID : 4713568

- Norio, R.; Perheentupa, J.; Launiala, K.; Hallman, N. : Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. Clin. Genet. 2: 182-192, 1971. PubMed ID : 5111762

- Pasternack, A.; Perheentupa, J. : Hypertensive angiopathy in familial chloride diarrhoea. Lancet 288: 1047-1049, 1966. Note: Originally Volume II.

- Perheentupa, J.; Eklund, J.; Kojo, N. : Familial chloride diarrhoea (’congenital alkalosis with diarrhoea’). Acta Paediat. Scand. 159 (suppl.): 119-120, 1965.

- Kelsey, W. M. : Congenital alkalosis with diarrhea. Am. J. Dis. Child. 88: 344-347, 1954.

- Darrow, D. C. : Congenital alkalosis with diarrhea. J. Pediat. 26: 519-532, 1945.

- Gamble, J. L.; Fahey, K. R.; Appleton, J.; MacLachlan, E. A. : Congenital alkalosis with diarrhea. J. Pediat. 26: 509-518, 1945.