ceroid lipofuscinosis, neuronal, 4 (Kufs type)
A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
MONDO:0019260
adult neuronal ceroid lipofuscinosis
is_a
CLN4
exact
CLN4B
related
Kuf's disease type B
related
Kuf's disease, autosomal dominant
related
adult neuronal ceroid lipofuscinosis 4B
related
autosomal dominant Kufs disease
exact
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
exact
ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant
exact
ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
related
neuronal ceroid lipofuscinosis type 4B
exact
neuronal ceroid lipofuscinosis, parry type
exact
SPBC11B10.05c SPBC1773.09c