PAFAD
MCID: PLT006
MIFTS: 25

Platelet-Activating Factor Acetylhydrolase Deficiency (PAFAD)

Categories: Blood diseases, Genetic 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 72 29 13 6 70
Pafad 57 72
Deficiency, Platelet-Activating Factor Acetylhydrolase 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
platelet-activating factor acetylhydrolase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614278
MeSH 44 D006969
SNOMED-CT via HPO 68 258211005
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Platelet-Activating Factor Acetylhydrolase Deficiency, also known as pafad, is related to proteasome-associated autoinflammatory syndrome 1 and allergic asthma. 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 : 72 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 proteasome-associated autoinflammatory syndrome 1 10.2
2 allergic asthma 10.2
3 lissencephaly 1 9.6 PLA2G7 PAFAH1B1
4 lissencephaly 9.5 PLA2G7 PAFAH1B1

Symptoms & Phenotypes for Platelet-Activating Factor Acetylhydrolase Deficiency

Human phenotypes related to Platelet-Activating Factor Acetylhydrolase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 platelet-activating factor acetylhydrolase deficiency 31 HP:0040175
2 increased level of platelet-activating factor 31 HP:0040178

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
platelet-activating factor acetylhydrolase deficiency

Respiratory Airways:
asthma susceptibility

Clinical features from OMIM®:

614278 (Updated 20-May-2021)

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

Anatomical Context for Platelet-Activating Factor Acetylhydrolase Deficiency

Publications for Platelet-Activating Factor Acetylhydrolase Deficiency

Articles related to Platelet-Activating Factor Acetylhydrolase Deficiency:

(show all 11)
# Title Authors PMID Year
1
Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase. 61 6 57
8675689 1996
2
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. 57 6
28406212 2017
3
The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalytic activities and cardiovascular disease in Korean men. 57 6
16787988 2006
4
Deficiency of platelet-activating factor acetylhydrolase is a severity factor for asthma. 6 57
10194471 1999
5
A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke. 6 57
9412624 1997
6
Genetics reveals importance of platelet activating factor in asthma and possibly other inflammatory states. 57
8675676 1996
7
Characterization of serum platelet-activating factor (PAF) acetylhydrolase. Correlation between deficiency of serum PAF acetylhydrolase and respiratory symptoms in asthmatic children. 57
3198761 1988
8
Lack of evidence for associations between plasma platelet-activating factor acetylhydrolase deficiency and schizophrenia. 61
11850055 2002
9
Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma. 61
11916011 2002
10
Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in japan. 61
10917985 2000
11
Plasma platelet-activating factor acetylhydrolase deficiency in Japanese patients with asthma. 61
10051281 1999

Variations for Platelet-Activating Factor Acetylhydrolase Deficiency

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLA2G7 NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe) SNV Pathogenic, risk factor 7914 rs76863441 GRCh37: 6:46677098-46677098
GRCh38: 6:46709361-46709361
2 PLA2G7 NM_005084.4(PLA2G7):c.663+1G>A SNV Pathogenic, risk factor 488191 rs201899866 GRCh37: 6:46679232-46679232
GRCh38: 6:46711495-46711495
3 PLA2G7 NM_005084.4(PLA2G7):c.109+2T>C SNV Pathogenic 1034154 GRCh37: 6:46690518-46690518
GRCh38: 6:46722781-46722781
4 PLA2G7 NM_005084.4(PLA2G7):c.8del (p.Pro3fs) Deletion Pathogenic 998303 GRCh37: 6:46690621-46690621
GRCh38: 6:46722884-46722884
5 PLA2G7 NM_005084.4(PLA2G7):c.470+1G>A SNV Likely pathogenic 1028854 GRCh37: 6:46682196-46682196
GRCh38: 6:46714459-46714459
6 PLA2G7 NM_005084.4(PLA2G7):c.870-2A>G SNV Uncertain significance 225441 rs757871876 GRCh37: 6:46675900-46675900
GRCh38: 6:46708163-46708163
7 PLA2G7 NM_005084.4(PLA2G7):c.680_681dup (p.Glu228fs) Duplication Uncertain significance 548515 rs1554182722 GRCh37: 6:46678377-46678378
GRCh38: 6:46710640-46710641

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

72
# Symbol AA change Variation ID SNP ID
1 PLA2G7 p.Val279Phe VAR_004268 rs76863441
2 PLA2G7 p.Gln281Arg VAR_011585 rs201256712

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 PLA2G7 PAFAH1B1
2 10.11 PLA2G7 PAFAH1B1

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 PLA2G7 PAFAH1B1
2 lipid catabolic process GO:0016042 8.96 PLA2G7 PAFAH1B1
3 platelet activating factor metabolic process GO:0046469 8.62 PLA2G7 PAFAH1B1

Sources for Platelet-Activating Factor Acetylhydrolase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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