Platelet-activating Factor Acetylhydrolase Deficiency; Pafad

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Platelet-activating Factor Acetylhydrolase Deficiency; Pafad

PLA2G7

View recommended genes panels

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

— 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.

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 Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A 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 %

You can get up to -5 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A SECKEL SYNDROME HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B CRI-DU-CHAT SYNDROME NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1