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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 + + +
  1. 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