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Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) (MONDO:0008083)

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.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0008083

Internal:9403

Synonyms

CLN4

autosomal dominant Kufs disease

ceroid lipofuscinosis, neuronal, 4 (Kufs type)

ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant

neuronal ceroid lipofuscinosis type 4B

neuronal ceroid lipofuscinosis, parry type

CLN4B

Kuf's disease type B

Kuf's disease, autosomal dominant

Kufs disease, autosomal dominant

adult neuronal ceroid lipofuscinosis 4B

ceroid lipofuscinosis, neuronal, 4B, autosomal dominant

ceroid lipofuscinosis, neuronal, parry type

Mapped terms

DOID:0110720

GARD:0001222

MEDGEN:320287

NCIT:C128116

OMIM:162350

Orphanet:228343

UMLS:C1834207

Child terms

Unknown children.

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