Neuronal Ceroid Lipofuscinosis Type 4B

MedGen UID:: 924712
•Concept ID:: C4284284
•: Disease or Syndrome

Synonyms:

Autosomal Dominant Kufs Disease; Neuronal Ceroid Lipofuscinosis, Parry Type

Definition

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. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeuronal Ceroid Lipofuscinosis Type 4B

Disease
- Disorder by Site
  - Disorder of nervous system
    - Degenerative Disease of Nervous System, Unspecified
      - Heredodegenerative Disorders, Nervous System
        Neuronal ceroid lipofuscinosis
        Neuronal Ceroid Lipofuscinosis Type 4B

MedGen

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Neuronal Ceroid Lipofuscinosis Type 4B

Definition

Term Hierarchy

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