1. Mendelian
  2. Rare Diseases
  3. DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1

Diarrhea 10, Protein-losing Enteropathy Type; Diar10

Table of contents:

Description

Diarrhea-10 is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018).For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (OMIM ).

Genes related to Diarrhea 10, Protein-losing Enteropathy Type; Diar10

  • PLVAP

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Clinical Features

Top most frequent phenotypes and symptoms related to Diarrhea 10, Protein-losing Enteropathy Type; Diar10

  • Seizures
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • High palate
  • Feeding difficulties
  • Ventricular septal defect
  • Anteverted nares
  • Edema

And another 29 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Diarrhea 10, Protein-losing Enteropathy Type; Diar10 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PLVAP.

By Fulgent Genetics Fulgent Genetics (United States).

PLVAP
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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