RAB27A, RAB27A, member RAS oncogene family, 5873

N. diseases: 108; N. variants: 13
Disease: Hemophagocytic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		0.060 GeneticVariation disease BEFREE Rab27a mutations cause type 2 Griscelli syndrome, which is characterized by immunodeficiency, including uncontrolled macrophage activation known as hemophagocytic syndrome. 21169636 2011
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		0.060 GeneticVariation disease BEFREE We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. 19953648 2010
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		0.060 GeneticVariation disease BEFREE Here, we describe a new patient, possessing a hemophagocytic syndrome with a homozygous Q118X nonsense RAB27A mutation. 17255357 2007
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		0.060 Biomarker disease BEFREE We report the diagnosis of GS2 in a 4-year-old child with haemophagocytic syndrome, immunodeficiency, and secondary neurological disorders. 15163896 2004
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		0.060 GeneticVariation disease BEFREE Most patients with GS display the hemophagocytic syndrome and have mutations in RAB27A, which codes for a small GTPase. 12058346 2002
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		0.060 GeneticVariation disease BEFREE Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 10835631 2000