U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Gene

Diarrhea 11, malabsorptive, congenital(IDIS; DIAR11)

MedGen UID:
1684754
•Concept ID:
C5231449
•
Disease or Syndrome
Synonym: INTRACTABLE DIARRHEA OF INFANCY SYNDROME
 
Gene (location): PERCC1 (16p13.3)
 
Monarch Initiative: MONDO:0032857
OMIM®: 618662

Definition

Diarrhea-11 (DIAR11) is characterized by onset of intractable malabsorptive diarrhea within the first few weeks of life (Oz-Levi et al., 2019). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]

Clinical features

From HPO
Diarrhea
MedGen UID:
8360
•Concept ID:
C0011991
•
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
See: Feature record | Search on this feature
Villous atrophy
MedGen UID:
154306
•Concept ID:
C0554101
•
Finding
The enteric villi are atrophic or absent.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Early onset congenital diarrheas; single center experience.
Cakir M, Sag E, Guven B, Akbulut UE, Issi F, Cebi AH, Müller T, Aldrian D, Janecke AR
Pediatr Neonatol 2021 Nov;62(6):612-619. Epub 2021 Jul 17 doi: 10.1016/j.pedneo.2021.05.024. PMID: 34330684
A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3.
Germán-Díaz M, Rodriguez-Gil Y, Cruz-Rojo J, Charbit-Henrion F, Cerf-Bensussan N, Manzanares-López Manzanares J, Moreno-Villares JM
Pediatrics 2017 Aug;140(2) doi: 10.1542/peds.2016-2210. PMID: 28724572
Intractable diarrhea of infancy: 10 years of experience.
Hizarcioglu-Gulsen H, Saltik-Temizel IN, Demir H, Gurakan F, Ozen H, Yuce A
J Pediatr Gastroenterol Nutr 2014 Nov;59(5):571-6. doi: 10.1097/MPG.0000000000000485. PMID: 25000351

Diagnosis

Early onset congenital diarrheas; single center experience.
Cakir M, Sag E, Guven B, Akbulut UE, Issi F, Cebi AH, Müller T, Aldrian D, Janecke AR
Pediatr Neonatol 2021 Nov;62(6):612-619. Epub 2021 Jul 17 doi: 10.1016/j.pedneo.2021.05.024. PMID: 34330684
Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis.
Mantoo MR, Malik R, Das P, Yadav R, Nakra T, Chouhan P
Indian J Pediatr 2021 Nov;88(11):1135-1138. Epub 2021 Jul 22 doi: 10.1007/s12098-021-03844-z. PMID: 34292522
Literature review on congenital glucose-galactose malabsorption from 2001 to 2019.
Wang W, Wang L, Ma M
J Paediatr Child Health 2020 Nov;56(11):1779-1784. Epub 2020 Sep 18 doi: 10.1111/jpc.14702. PMID: 32946683
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.
Wanes D, Husein DM, Naim HY
Nutrients 2019 Feb 22;11(2) doi: 10.3390/nu11020461. PMID: 30813293Free PMC Article
Investigation of chronic diarrhoea in infancy.
Pezzella V, De Martino L, Passariello A, Cosenza L, Terrin G, Berni Canani R
Early Hum Dev 2013 Nov;89(11):893-7. Epub 2013 Sep 7 doi: 10.1016/j.earlhumdev.2013.08.007. PMID: 24021917

Therapy

A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3.
Germán-Díaz M, Rodriguez-Gil Y, Cruz-Rojo J, Charbit-Henrion F, Cerf-Bensussan N, Manzanares-López Manzanares J, Moreno-Villares JM
Pediatrics 2017 Aug;140(2) doi: 10.1542/peds.2016-2210. PMID: 28724572
Intestinal transplantation in children: differences between isolated intestinal and composite grafts.
López-Santamaría M, Gámez M, Murcia J, Leal N, Hernández F, Tovar J, Frauca E, Camarena C, Hierro L, de la Vega A, Diaz M, Bortolo G, Jara P, Molina M, Sarriá J, Prieto G
Transplant Proc 2005 Nov;37(9):4087-8. doi: 10.1016/j.transproceed.2005.10.073. PMID: 16386633
Extreme short bowel syndrome in a full-term neonate--a case report.
Heemskerk J, Sie GH, Van den Neucker AM, Forget PP, Heineman E, van Heurn LW
J Pediatr Surg 2003 Nov;38(11):1665-6. doi: 10.1016/s0022-3468(03)00587-6. PMID: 14614721
Severe selective magnesium malabsorption: tests of tolerance of oral magnesium supplements.
Mettey R, Guillard O, Merle P, Maillet-Picker F
Magnes Res 1990 Dec;3(4):291-5. PMID: 2132677

Prognosis

Congenital Diarrhoea In A Neonate With Hypernatraemia And Dehydration.
Kaleem A, Younus J, Haroon F, Fatima B, Afzal F, Chaudhry S
J Pak Med Assoc 2023 Nov;73(11):2254-2256. doi: 10.47391/JPMA.7876. PMID: 38013540
Literature review on congenital glucose-galactose malabsorption from 2001 to 2019.
Wang W, Wang L, Ma M
J Paediatr Child Health 2020 Nov;56(11):1779-1784. Epub 2020 Sep 18 doi: 10.1111/jpc.14702. PMID: 32946683
Intractable diarrhea of infancy: 10 years of experience.
Hizarcioglu-Gulsen H, Saltik-Temizel IN, Demir H, Gurakan F, Ozen H, Yuce A
J Pediatr Gastroenterol Nutr 2014 Nov;59(5):571-6. doi: 10.1097/MPG.0000000000000485. PMID: 25000351
Congenital chloridorrhoea. A question of reversed brush border transport processes and varying junctional tightness.
Rask-Madsen J, Kamper J, Oddsson E, Krag E
Scand J Gastroenterol 1976;11(4):377-83. PMID: 935798

Clinical prediction guides

Causes Of Chronic Non-Infectious Diarrhoea In Infants Less Than 6 Months Of Age: Rarely Recognized Entities.
Mushtaq I, Cheema HA, Malik HS, Waheed N, Hashmi MA, Malik HS
J Ayub Med Coll Abbottabad 2017 Jan-Mar;29(1):78-82. PMID: 28712180
Congenital chloridorrhoea. A question of reversed brush border transport processes and varying junctional tightness.
Rask-Madsen J, Kamper J, Oddsson E, Krag E
Scand J Gastroenterol 1976;11(4):377-83. PMID: 935798

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...