JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Disease: Neuroferritinopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		0.010 AlteredExpression disease BEFREE They share overlapping clinical features, so making the diagnosis purely on clinical grounds may be challenging, however presence of certain characteristics may be a clue (e.g. prominent orofacial involvement in neuroferritinopathy etc.), Information of ethnic descent will also guide genetic work-up [HDL2 in Black Africans; dentatorubral-pallidoluysian atrophy (DRPLA) in Japanese etc. 23812307 2013