Ceroid lipofuscinosis, neuronal, 5

Preferred Label : Ceroid lipofuscinosis, neuronal, 5;

Symbol : CLN5;

CISMeF acronym : CLN5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, 5, variable age at onset;

Included titles and symbols : Neuronal ceroid lipofuscinosis, late infantile, finnish variant; Finnish vlincl;

Description : The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CLN5 intracellular trafficking protein gene (CLN5, 608102.0001);

Laboratory abnormalities : 'Curvilinear' profiles ultrastructurally; 'Fingerprint' profiles ultrastructurally; 'Rectilinear' profiles ultrastructurally;

Prefixed ID : #256731;

Détails

Origin ID

256731;

UMLS CUI

C1850442;

Automatic exact mappings (from CISMeF team)
- CLN5 disease [ORDO Disease]
- CLN5 gene [LOINC component]
- CLN5 intracellular trafficking protein [HGNC gene]
- Finnish variant of late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- CLN5 intracellular trafficking protein [ORDO Gene]
- Ceroid lipofuscinosis, neuronal 5 [MeSH concept]
- Neuronal Ceroid Lipofuscinosis Type 5 [NCIt concept]
- ceroid lipofuscinosis, neuronal 5 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 5 [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 5 [DO Concept]
Genes related to phenotype
- Cln5 intracellular trafficking protein [OMIM gene]
HPO term(s)
- Abnormal nervous system electrophysiology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Clumsiness [HPO term]
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Intellectual disability [HPO term]
- Motor deterioration [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Progressive visual loss [HPO term]
- Rectilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Retinal degeneration [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- CLN5 disease [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN5 disease [ORDO Disease]
- CLN5 intracellular trafficking protein [ORDO Gene]
- Ceroid lipofuscinosis, neuronal 5 [MeSH concept]
- Neuronal Ceroid Lipofuscinosis Type 5 [NCIt concept]
- ceroid lipofuscinosis, neuronal 5 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 5 [DO Concept]

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