Ceroid lipofuscinosis, neuronal, 2

Preferred Label : Ceroid lipofuscinosis, neuronal, 2;

Symbol : CLN2;

CISMeF acronym : LINCL; CLN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, 2, variable age at onset; Jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile; LINCL;

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 clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (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 CLN2 gene (CLN2, 607998.0001);

Laboratory abnormalities : Lipopigment in extraneuronal cells; 'Curvilinear profiles' ultrastructurally;

Prefixed ID : #204500;

Détails

Origin ID

204500;

UMLS CUI

C1876161;

Automatic exact mappings (from CISMeF team)
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
Currated CISMeF NLP mapping
- CLN2 disease [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Late-infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 2 [NCIt concept]
- ceroid lipofuscinosis, neuronal, 2 [MeSH concept]
- ceroid lipofuscinosis, neuronal, 2 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 2 [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 2 [DO Concept]
Genes related to phenotype
- Tripeptidyl peptidase I [OMIM gene]
HPO term(s)
- Abnormal nervous system electrophysiology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Developmental regression after age 2 years [HPO term]
- Increased extraneuronal autofluorescent lipopigment [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Myoclonus [HPO term]
- Progressive visual loss [HPO term]
- Retinal degeneration [HPO term]
- Seizure [HPO term]
- Speech and language difficulties [HPO term]
- Undetectable electroretinogram [HPO term]
ORDO concept(s)
- CLN2 disease [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN2 disease [ORDO Disease]
- ceroid lipofuscinosis, neuronal, 2 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 2 [MeSH concept]
- neuronal ceroid lipofuscinosis 2 [DO Concept]
Validated automatic mappings to BTNT
- Jansky Bielshowsky syndrome [Disease (Nov.)]

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