PPT2, palmitoyl-protein thioesterase 2, 9374

N. diseases: 27; N. variants: 11
Disease: Histiocytic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome 		0.010 Biomarker disease BEFREE Although PPT2 deficiency has not been described in humans, manifestations would be predicted to include neurodegeneration with bone marrow histiocytosis, visceromegaly, brown pancreas, and linkage to chromosome 6p21.3 in affected families. 14528005 2003