Table 3 Syndromes showing phenotypical overlap with Vici syndrome (selection)
From: Vici syndrome: a review
Condition | Gene | Clinical feature | ||||||
|---|---|---|---|---|---|---|---|---|
CNS | Cataract | Cardiomyopathy | Myopathy | Neuropathy | Immunodeficiency | Hypopigmentation | ||
Vici syndrome | EPG5 | + | + | + | + | + | + | + |
MSS | SIL1 | + | + | − | + | +a | − | − |
CCFDN | CTDP1 | + | + | − | + | + | − | − |
Nathalie syndrome | ? | + | + | + | + | − | − | − |
Griscelli syndrome 1 | MYO5A | + | − | − | ? | − | − | + |
Griscelli syndrome 2 | RAB27A | + | − | − | ? | − | + | + |
Griscelli syndrome 3 | MLPH | − | − | − | ? | − | − | + |
Elejalde syndrome | RAB27A | + | − | − | ? | − | − | + |
CHS | LYST | + | − | − | + | (+) | + | + |
HPS 2 | AP3B1 | + | − | − | ? | + | − | + |
Cohen syndrome | VPS13B | + | − | (+) | − | − | + | − |
Danon disease | LAMP2 | + | − | + | + | + | − | − |
MEDNIK | AP1S1 | + | (+) | − | − | + | − | − |
CEDNIK | SNAP29 | + | + | − | − | + | − | − |