Ceroid lipofuscinosis, neuronal, 4 (kufs type)

Preferred Label : Ceroid lipofuscinosis, neuronal, 4 (kufs type);

Symbol : CLN4;

CISMeF acronym : CLN4B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, parry type;

Description : The neuronal ceroid lipofuscinoses are a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). An adult form, sometimes referred to as Kufs disease, is distinguished clinically by onset of symptoms in adulthood and by absence of ocular involvement. For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 5 gene (DNAJC5, 611203.0001);

Laboratory abnormalities : 'Curvilinear' profiles ultrastructurally; 'Rectilinear' profiles ultrastructurally; Granular osmiophilic deposits (GROD) in cells; 'Fingerprint' profiles ultrastructurally;

Prefixed ID : #162350;

Détails

Origin ID

162350;

UMLS CUI

C1834207;

Automatic exact mappings (from CISMeF team)
- CLN4B disease [ORDO Disease]
Broader ORDO disease(s)
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
Currated CISMeF NLP mapping
- Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant [MeSH concept]
- Neuronal Ceroid Lipofuscinosis Type 4B [NCIt concept]
- neuronal ceroid lipofuscinosis 4B [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 4B [DO Concept]
Genes related to phenotype
- Dnaj/hsp40 homolog, subfamily C, member 5 [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Adult onset [HPO term]
- Ataxia [HPO term]
- Auditory and visual halucinations [HPO term]
- Auditory hallucinations [HPO term]
- Autosomal dominant inheritance [HPO term]
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Granular osmiophilic deposits (GROD) in cells [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Myoclonus [HPO term]
- Parkinsonism [HPO term]
- Rapidly progressive [HPO term]
- Rectilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Seizure [HPO term]
- Visual hallucinations [HPO term]
ORDO concept(s)
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- CLN4B disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant [MeSH concept]
Validated automatic mappings to NTBT
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]

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