MCID: PLT006
MIFTS: 23

Platelet-Activating Factor Acetylhydrolase Deficiency

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Platelet-Activating Factor Acetylhydrolase Deficiency

MalaCards integrated aliases for Platelet-Activating Factor Acetylhydrolase Deficiency:

Name: Platelet-Activating Factor Acetylhydrolase Deficiency 57 75 29 13 6 73
Pafad 57 75
Deficiency, Platelet-Activating Factor Acetylhydrolase 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
paf acetylhydrolase activity is absent in 4% of the japanese population


Classifications:



External Ids:

OMIM 57 614278
MeSH 44 D006969
UMLS 73 C3280315

Summaries for Platelet-Activating Factor Acetylhydrolase Deficiency

OMIM : 57 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). (614278)

MalaCards based summary : Platelet-Activating Factor Acetylhydrolase Deficiency, also known as pafad, is related to asthma and schizophrenia. An important gene associated with Platelet-Activating Factor Acetylhydrolase Deficiency is PLA2G7 (Phospholipase A2 Group VII), and among its related pathways/superpathways are Acyl chain remodelling of PE and Lissencephaly gene (LIS1) in neuronal migration and development. Related phenotypes are platelet-activating factor acetylhydrolase deficiency and increased level of platelet-activating factor

UniProtKB/Swiss-Prot : 75 Platelet-activating factor acetylhydrolase deficiency: An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. It can be associated with several disease states including inflammatory gastrointestinal disorders, asthma and atopy. Asthmatic individuals with PAFAD may manifest aggravated respiratory symptoms.

Related Diseases for Platelet-Activating Factor Acetylhydrolase Deficiency

Diseases related to Platelet-Activating Factor Acetylhydrolase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 asthma 10.1
2 schizophrenia 10.0
3 lissencephaly 1 9.0 PAFAH1B1 PLA2G7

Symptoms & Phenotypes for Platelet-Activating Factor Acetylhydrolase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Respiratory Airways:
asthma susceptibility

Laboratory Abnormalities:
platelet-activating factor acetylhydrolase deficiency


Clinical features from OMIM:

614278

Human phenotypes related to Platelet-Activating Factor Acetylhydrolase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 platelet-activating factor acetylhydrolase deficiency 32 HP:0040175
2 increased level of platelet-activating factor 32 HP:0040178

Drugs & Therapeutics for Platelet-Activating Factor Acetylhydrolase Deficiency

Search Clinical Trials , NIH Clinical Center for Platelet-Activating Factor Acetylhydrolase Deficiency

Genetic Tests for Platelet-Activating Factor Acetylhydrolase Deficiency

Genetic tests related to Platelet-Activating Factor Acetylhydrolase Deficiency:

# Genetic test Affiliating Genes
1 Platelet-Activating Factor Acetylhydrolase Deficiency 29 PLA2G7

Anatomical Context for Platelet-Activating Factor Acetylhydrolase Deficiency

Publications for Platelet-Activating Factor Acetylhydrolase Deficiency

Articles related to Platelet-Activating Factor Acetylhydrolase Deficiency:

# Title Authors Year
1
Lack of evidence for associations between plasma platelet-activating factor acetylhydrolase deficiency and schizophrenia. ( 11850055 )
2002
2
Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma. ( 11916011 )
2002
3
Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in japan. ( 10917985 )
2000
4
Plasma platelet-activating factor acetylhydrolase deficiency in Japanese patients with asthma. ( 10051281 )
1999
5
Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. ( 8675689 )
1996

Variations for Platelet-Activating Factor Acetylhydrolase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Platelet-Activating Factor Acetylhydrolase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 PLA2G7 p.Val279Phe VAR_004268 rs76863441
2 PLA2G7 p.Gln281Arg VAR_011585 rs201256712

ClinVar genetic disease variations for Platelet-Activating Factor Acetylhydrolase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G7 NM_001168357.1(PLA2G7): c.835G> T (p.Val279Phe) single nucleotide variant Pathogenic rs76863441 GRCh37 Chromosome 6, 46677098: 46677098
2 PLA2G7 NM_001168357.1(PLA2G7): c.835G> T (p.Val279Phe) single nucleotide variant Pathogenic rs76863441 GRCh38 Chromosome 6, 46709361: 46709361
3 PLA2G7 NM_001168357.1(PLA2G7): c.870-2A> G single nucleotide variant Uncertain significance rs757871876 GRCh37 Chromosome 6, 46675900: 46675900
4 PLA2G7 NM_001168357.1(PLA2G7): c.870-2A> G single nucleotide variant Uncertain significance rs757871876 GRCh38 Chromosome 6, 46708163: 46708163
5 PLA2G7 NM_001168357.1(PLA2G7): c.663+1G> A single nucleotide variant Pathogenic rs201899866 GRCh38 Chromosome 6, 46711495: 46711495
6 PLA2G7 NM_001168357.1(PLA2G7): c.663+1G> A single nucleotide variant Pathogenic rs201899866 GRCh37 Chromosome 6, 46679232: 46679232

Expression for Platelet-Activating Factor Acetylhydrolase Deficiency

Search GEO for disease gene expression data for Platelet-Activating Factor Acetylhydrolase Deficiency.

Pathways for Platelet-Activating Factor Acetylhydrolase Deficiency

Pathways related to Platelet-Activating Factor Acetylhydrolase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 PAFAH1B1 PLA2G7
2 10.11 PAFAH1B1 PLA2G7

GO Terms for Platelet-Activating Factor Acetylhydrolase Deficiency

Biological processes related to Platelet-Activating Factor Acetylhydrolase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.16 PAFAH1B1 PLA2G7
2 lipid catabolic process GO:0016042 8.96 PAFAH1B1 PLA2G7
3 platelet activating factor metabolic process GO:0046469 8.62 PAFAH1B1 PLA2G7

Sources for Platelet-Activating Factor Acetylhydrolase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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