SASH1, SAM and SH3 domain containing 1, 23328

N. diseases: 67; N. variants: 26
Disease: LEOPARD Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.010 Biomarker disease BEFREE Comparisons between clinical presentations showed that SASH1-related phenotypes can exhibit hyper- and hypopigmentation on the trunk and extremities, similar to dyschromatosis, while scattered café au-lait spots usually appeared in PTPN11-related LEOPARD syndrome. 27659786 2016