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Platelet-activating factor acetylhydrolase deficiency(PAFAD)

MedGen UID:
481945
•Concept ID:
C3280315
•
Disease or Syndrome
Synonym: PAFAD
 
Gene (location): PLA2G7 (6p12.3)
 
HPO: HP:0040175
Monarch Initiative: MONDO:0013663
OMIM®: 614278

Definition

Reduced level of platelet-activating factor acetylhydrolase. [from HPO]

Clinical features

From HPO
Platelet-activating factor acetylhydrolase deficiency
MedGen UID:
481945
•Concept ID:
C3280315
•
Disease or Syndrome
Reduced level of platelet-activating factor acetylhydrolase.
See: Feature record | Search on this feature
Increased level of platelet-activating factor
MedGen UID:
892870
•Concept ID:
C4073143
•
Finding
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPlatelet-activating factor acetylhydrolase deficiency

Conditions with this feature

Platelet-activating factor acetylhydrolase deficiency
MedGen UID:
481945
•Concept ID:
C3280315
•
Disease or Syndrome
Reduced level of platelet-activating factor acetylhydrolase.
See: Condition Record
Platelet-activating factor acetylhydrolase deficiency

Professional guidelines

PubMed

A polymorphism in plasma platelet-activating factor acetylhydrolase is involved in resistance to immunoglobulin treatment in Kawasaki disease.
Minami T, Suzuki H, Takeuchi T, Uemura S, Sugatani J, Yoshikawa N
J Pediatr 2005 Jul;147(1):78-83. doi: 10.1016/j.jpeds.2005.03.037. PMID: 16027700

Recent clinical studies

Etiology

Extrinsic and Intrinsic Modulators of Anaphylaxis.
Carter MC, Park J, Vadas P, Worm M
J Allergy Clin Immunol Pract 2023 Jul;11(7):1998-2006. Epub 2023 May 24 doi: 10.1016/j.jaip.2023.05.015. PMID: 37230384
Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma.
Ito S, Noguchi E, Shibasaki M, Yamakawa-Kobayashi K, Watanabe H, Arinami T
J Hum Genet 2002;47(2):99-101. doi: 10.1007/s100380200009. PMID: 11916011
Lack of evidence for associations between plasma platelet-activating factor acetylhydrolase deficiency and schizophrenia.
Ohtsuki T, Watanabe H, Toru M, Arinami T
Psychiatry Res 2002 Jan 31;109(1):93-6. doi: 10.1016/s0165-1781(01)00353-5. PMID: 11850055
Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in japan.
Unno N, Nakamura T, Kaneko H, Uchiyama T, Yamamoto N, Sugatani J, Miwa M, Nakamura S
J Vasc Surg 2000 Aug;32(2):263-7. doi: 10.1067/mva.2000.105670. PMID: 10917985

Diagnosis

Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma.
Ito S, Noguchi E, Shibasaki M, Yamakawa-Kobayashi K, Watanabe H, Arinami T
J Hum Genet 2002;47(2):99-101. doi: 10.1007/s100380200009. PMID: 11916011

Clinical prediction guides

Lack of evidence for associations between plasma platelet-activating factor acetylhydrolase deficiency and schizophrenia.
Ohtsuki T, Watanabe H, Toru M, Arinami T
Psychiatry Res 2002 Jan 31;109(1):93-6. doi: 10.1016/s0165-1781(01)00353-5. PMID: 11850055

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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