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Ontology Browser

Term:
Phospholipase A2, Group IVA, Deficiency of (DOID:9000368)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
alpha-methylacyl-CoA racemase deficiency  
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
autosomal recessive cutis laxa type IC  
Barth syndrome +   
Bernard-Soulier syndrome +   
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
chylomicron retention disease  
Congenital Lp(A) Deficiency  
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
Desmosterolosis  
diarrhea +   
Dyslipidemias +   
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 
esophageal disease +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Familial Platelet Disorder with Associated Myeloid Malignancy  
gastroenteritis +   
gastrointestinal anthrax +  
Gastrointestinal Hemorrhage +   
Gastrointestinal Motility Disorders +   
Gastrointestinal Neoplasms +   
gastrointestinal tuberculosis +  
gastrointestinal tularemia 
Glanzmann's thrombasthenia +   
Glycosylphosphatidylinositol Deficiency +   
gray platelet syndrome +   
Hepatic Lipase Deficiency  
hyperlipoproteinemia type IV  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
intestinal disease +   
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND Syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome +   
MYH-9 related disease +   
Myopathy with Abnormal Lipid Metabolism  
NATURAL KILLER CELL ENTEROPATHY  
neutral lipid storage disease +   
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER  
Phospholipase A2, Group IVA, Deficiency of  
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. GURDP is caused by homozygous or compound heterozygous mutation in the PLA2G4A gene on chromosome 1q31. (OMIM)
Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease  
Platelet Aggregation, Spontaneous 
Platelet Factor 3 Deficiency 
Platelet Prostacyclin Receptor Defect 
Platelet Receptor for Collagen, Deficiency of 
Platelet Signal Processing Defect 
platelet storage pool deficiency +   
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 12 
Platelet-Type Bleeding Disorder 13  
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 20  
Platelet-Type Bleeding Disorder 21  
Platelet-Type Bleeding Disorder 22  
platelet-type bleeding disorder 8  
platelet-type bleeding disorder 9  
Primary Release Disorder Of Platelets 
qualitative platelet defect 
Refsum disease +   
short chain acyl-CoA dehydrogenase deficiency  
Siegler Brewer Carey Syndrome 
sitosterolemia +   
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
stomach disease +   
Stormorken syndrome  
syndromic X-linked intellectual disability type 10  
thrombocytopenia +   
thrombocytosis +   
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
Undefined Platelet Disorder 
very long chain acyl-CoA dehydrogenase deficiency  
Visceral Prolapse 
von Willebrand's disease +   
White Platelet Syndrome 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
xanthomatosis +   

Synonyms
Exact Synonyms: GURDP ;   Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
Primary IDs: OMIM:618372 ;   RDO:9001198

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.