Table 3.
Syndromes showing phenotypical overlap with Vici syndrome (selection)
| 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 | + | + | − | − | + | − | − |
MSS marinesco-sjoegren syndrome, CCFDN congenital cataracts, facial dysmorphism and neuropathy syndrome, CHS chediak-higashi syndrome, HPS2 hermanksy-pudlak syndrome type 2, MEDNIK mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome. + = feature present; - = feature absent; ? = not specifically investigated; (+) = feature controversial or not sufficiently documented; a = neuronopathy