KEGG   DISEASE: Congenital diarrheaHelp
Entry
H01174                      Disease                                

Name
Congenital diarrhea
  Subgroup
Congenital chloride diarrhea (DIAR1)
Microvillus inclusion disease (DIAR2)
Congenital sodium diarrhea (DIAR3)
Congenital malabsorptive diarrhea (DIAR4)
Congenital tufting enteropathy (DIAR5)
Description
Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis.
Category
Gastrointestinal disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Gastrointestinal diseases
   H01174  Congenital diarrhea
Human diseases in ICD-11 classification [BR:br08403]
 19 Certain conditions originating in the perinatal period
  Digestive system disorders of foetus or newborn
   KB8C  Noninfectious neonatal diarrhoea
    H01174  Congenital diarrhea
BRITE hierarchy
Pathway
hsa04978  Mineral absorption
Gene
(DIAR1) SLC26A3 [HSA:1811] [KO:K14078]
(DIAR2) MYO5B [HSA:4645] [KO:K10357]
(DIAR3) SPINT2 [HSA:10653]
(DIAR4) NEUROG3 [HSA:50674] [KO:K08028]
(DIAR5) EPCAM [HSA:4072] [KO:K06737]
(DIAR6) GUCY2C [HSA:2984] [KO:K12320]
(DIAR7) DGAT1 [HSA:8694] [KO:K11155]
(DIAR8) SLC9A3 [HSA:6550] [KO:K12040]
Other DBs
ICD-11: KB8C
ICD-10: P78.3
MeSH: C536210 C537470 C562576
OMIM: 214700 251850 270420 610370 613217 614616 615863 616868
Reference
  Authors
Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G
  Title
Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.
  Journal
J Pediatr Gastroenterol Nutr 50:360-6 (2010)
DOI:10.1097/MPG.0b013e3181d135ef
Reference
  Authors
Chen CP, Chiang MC, Wang TH, Hsueh C, Chang SD, Tsai FJ, Wang CN, Chern SR, Wang W
  Title
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea.
  Journal
Taiwan J Obstet Gynecol 49:487-94 (2010)
DOI:10.1016/S1028-4559(10)60102-7
Reference
  Authors
Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Havik B, Tonder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM
  Title
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
  Journal
N Engl J Med 366:1586-95 (2012)
DOI:10.1056/NEJMoa1110132
Reference
  Authors
Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr
  Title
DGAT1 mutation is linked to a congenital diarrheal disorder.
  Journal
J Clin Invest 122:4680-4 (2012)
DOI:10.1172/JCI64873
Reference
  Authors
Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Muller T
  Title
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
  Journal
Hum Mol Genet 24:6614-23 (2015)
DOI:10.1093/hmg/ddv367

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