Platelet-activating Factor Acetylhydrolase Deficiency; Pafad

Description

Deficiency of plasma platelet-activating factor acetylhydrolase results in increased levels of PAF, a chemotactic lipid that activates inflammatory cells, bronchoconstriction, and airway hyperresponsiveness, and can moderate the release of inflammatory agonists. Asthmatic individuals with PAF acetylhydrolase deficiency may have exacerbated symptoms (summary by Stafforini et al., 1999).

Clinical Features

Phenotypes and symptoms related to Platelet-activating Factor Acetylhydrolase Deficiency; Pafad

  • Asthma
  • Increased level of platelet-activating factor
  • Platelet-activating factor acetylhydrolase deficiency

Incidence and onset information

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.


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Platelet-activating Factor Acetylhydrolase Deficiency; Pafad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
PLA2G7.

By Fulgent Genetics Fulgent Genetics (United States).

PLA2G7
Specificity
100 %
Genes
100 %
Asthma Susceptibility to, Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics (Spain).

CCL11, TNF, SCGB3A2, ALOX5, HLA-G, HNMT, IL13, MUC7, PLA2G7
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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