Complement Hyperactivation, Angiopathic Thrombosis, And Protein-losing Enteropathy; Chaple

Description

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 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).

Clinical Features

Top most frequent phenotypes and symptoms related to Complement Hyperactivation, Angiopathic Thrombosis, And Protein-losing Enteropathy; Chaple

  • Growth delay
  • Pain
  • Anemia
  • Hepatomegaly
  • Edema
  • Vomiting
  • Diarrhea
  • Recurrent infections
  • Recurrent respiratory infections
  • Abdominal pain

And another 21 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.

Complement Hyperactivation, Angiopathic Thrombosis, And Protein-losing Enteropathy; Chaple Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CD55.

By Fulgent Genetics Fulgent Genetics (United States).

CD55
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Complement System Disorder Panel.

By Blueprint Genetics (Finland).

CFB, SPAG1, THBD, SERPING1, RSPH1, C1QA, C1QB, C1QBP, C1QC, C1S, C2, VTN, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C6, C7 , (...)

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Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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