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Congenital diarrhea 7 with exudative enteropathy(DIAR7)

MedGen UID:
862953
•Concept ID:
C4014516
•
Disease or Syndrome
Synonym: Diarrhea 7
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): DGAT1 (8q24.3)
 
Monarch Initiative: MONDO:0014375
OMIM®: 615863
Orphanet: ORPHA329242

Definition

Diarrhea-7 (DIAR7) is a protein-losing enteropathy characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas. Patients experience failure to thrive, hypogammaglobulinemia with recurrent infections, and require albumin infusions and parenteral nutrition. Hypertriglyceridemia and digital clubbing have been observed (Stephen et al., 2016). The malabsorption can result in severe deficiency of vitamin D and other nutrients (Gupta et al., 2020). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]

Clinical features

From HPO
Abdominal colic
MedGen UID:
68563
•Concept ID:
C0232488
•
Finding
A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.
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Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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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.
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Protein-losing enteropathy
MedGen UID:
19522
•Concept ID:
C0033680
•
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
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Vomiting
MedGen UID:
12124
•Concept ID:
C0042963
•
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
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Villous atrophy
MedGen UID:
154306
•Concept ID:
C0554101
•
Finding
The enteric villi are atrophic or absent.
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Hypercholesterolemia
MedGen UID:
5687
•Concept ID:
C0020443
•
Disease or Syndrome
An increased concentration of cholesterol in the blood.
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Hyperlipidemia
MedGen UID:
5692
•Concept ID:
C0020473
•
Disease or Syndrome
An elevated lipid concentration in the blood.
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Hypoalbuminemia
MedGen UID:
68694
•Concept ID:
C0239981
•
Finding
Reduction in the concentration of albumin in the blood.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital diarrhea 7 with exudative enteropathy

Recent clinical studies

Etiology

The diagnostic value of capsule endoscopy in children with intestinal lymphangiectasia.
Wu J, Huang Z, Ji M, Jiang Z, Wang Y, Tang Z, Huang Y
Rev Esp Enferm Dig 2021 Nov;113(11):765-769. doi: 10.17235/reed.2021.7682/2020. PMID: 33733798

Diagnosis

The diagnostic value of capsule endoscopy in children with intestinal lymphangiectasia.
Wu J, Huang Z, Ji M, Jiang Z, Wang Y, Tang Z, Huang Y
Rev Esp Enferm Dig 2021 Nov;113(11):765-769. doi: 10.17235/reed.2021.7682/2020. PMID: 33733798
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K
Gastroenterology 2018 Jul;155(1):130-143.e15. Epub 2018 Mar 29 doi: 10.1053/j.gastro.2018.03.040. PMID: 29604290Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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