Neuromuscular HOMEepAGE
neuromuscular.wustl.edu
/
A–Z

Vici syndrome

VariableSystemic/MultisystemOMIM 615068
W
View full entry on WUSTL Neuromuscular
mitosyn.html#vici

Overview

From WUSTL Neuromuscular

● Nosology: Immunodeficiency with Cleft lip/palate, Cataract, Hypopigmentation & Absent corpus callosum Epidemiology: 15 patients; Multiple ethnicities Genetics 3 Mutation types: Truncating; Missense & Splice site Homozygous or Compound heterozygous Mutated in human cancer tissue EPG5 protein Functions Autophagy pathway: Clearance of autophagosomal cargo Neuronal embryonic development Expression: CNS, Skeletal & cardiac muscle, Thymus, Immune cells, Lung, Kidneys Mutations Defective autophagy: Reduced fusion of LC3 & NBR1 puncta with lysosomes Normal processing of LC3-I to LC3-II Clinical CNS

OMIM Entries

OMIM #615068

Related Conditions

Shared genes
Acute Motor (Axonal) Neuropathy (AMAN)
IIGQ1BGM1
Bone Morphogenetic Proteins
II
Cell Death/Damage: Mechanisms
MLKLMEMBRANEMLKLRIPK3II
Granulomatous & Inflammatory Myopathies with Anti-mitochondrial antibodies
M2E2CLINICAL
IMPP (Myofasciitis; EVIM) + Deafness: Enterovirus & Hypogammaglobulinemia-Related
D68D71CLINICAL
Phosphoglycerate Kinase Deficiency
DPGPGACLINICAL

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.