GURDP
MCID: GST106
MIFTS: 15

Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets (GURDP)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

MalaCards integrated aliases for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

Name: Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 58 6
Phospholipase A2, Group Iv a, Deficiency of 30
Phospholipase A2, Group Iva, Deficiency of 58
Gurdp 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life


Classifications:



External Ids:

OMIM 58 618372

Summaries for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

OMIM : 58 Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa (summary by Adler et al., 2008 and Faioni et al., 2014). (618372)

MalaCards based summary : Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets, is also known as phospholipase a2, group iv a, deficiency of. An important gene associated with Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets is PLA2G4A (Phospholipase A2 Group IVA). Affiliated tissues include small intestine.

Related Diseases for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Symptoms & Phenotypes for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
fistulas
mucosal ulceration, recurrent
duodenal ulcers
small bowel ulcers
esophageal ulcers

Laboratory Abnormalities:
decreased serum eicosanoids
decreased thromboxane-b2 (txb2)
decreased 12-hete

Hematology:
impaired platelet aggregation due to impaired thromboxane-a2 production
iron deficiency anemia, secondary

Clinical features from OMIM:

618372

Drugs & Therapeutics for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Search Clinical Trials , NIH Clinical Center for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets

Genetic Tests for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Genetic tests related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

# Genetic test Affiliating Genes
1 Phospholipase A2, Group Iv a, Deficiency of 30

Anatomical Context for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

MalaCards organs/tissues related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

42
Small Intestine

Publications for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Articles related to Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

# Title Authors Year
1
Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency. ( 25102815 )
2014
2
Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. ( 23268370 )
2014
3
Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction. ( 18451993 )
2008

Variations for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

ClinVar genetic disease variations for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G4A NM_024420.2(PLA2G4A): c.331T> C (p.Ser111Pro) single nucleotide variant Pathogenic rs121434634 GRCh37 Chromosome 1, 186863296: 186863296
2 PLA2G4A NM_024420.2(PLA2G4A): c.331T> C (p.Ser111Pro) single nucleotide variant Pathogenic rs121434634 GRCh38 Chromosome 1, 186894164: 186894164
3 PLA2G4A NM_024420.2(PLA2G4A): c.1454G> A (p.Arg485His) single nucleotide variant Pathogenic rs121434635 GRCh37 Chromosome 1, 186925351: 186925351
4 PLA2G4A NM_024420.2(PLA2G4A): c.1454G> A (p.Arg485His) single nucleotide variant Pathogenic rs121434635 GRCh38 Chromosome 1, 186956219: 186956219
5 PLA2G4A NM_024420.2(PLA2G4A): c.1723G> C (p.Asp575His) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 186934684: 186934684
6 PLA2G4A NM_024420.2(PLA2G4A): c.1723G> C (p.Asp575His) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 186965552: 186965552
7 PLA2G4A NM_024420.2(PLA2G4A): c.2118+4_2118+7del deletion Pathogenic GRCh37 Chromosome 1, 186948608: 186948611
8 PLA2G4A NM_024420.2(PLA2G4A): c.2118+4_2118+7del deletion Pathogenic GRCh38 Chromosome 1, 186979476: 186979479

Expression for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Search GEO for disease gene expression data for Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets.

Pathways for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

GO Terms for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

Sources for Gastrointestinal Ulceration, Recurrent, with Dysfunctional...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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