Diarrhea 10, Protein-losing Enteropathy Type; Diar10
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
Clinical FeaturesTop most frequent phenotypes and symptoms related to Diarrhea 10, Protein-losing Enteropathy Type; Diar10
- Abnormal facial shape
- Low-set ears
- High palate
- Feeding difficulties
- Ventricular septal defect
- Anteverted nares
And another 29 symptoms. If you need more information about this disease we can help you.
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 researchersCurrently, 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|
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -7 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Genetic Syndrome Finder
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOTRICHOSIS 8; HYPT8 MARDEN-WALKER SYNDROME; MWKS CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 WHIM SYNDROME; WHIMS CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11