Ceroid lipofuscinosis, neuronal, 8

Preferred Label : Ceroid lipofuscinosis, neuronal, 8;

Symbol : CLN8;

CISMeF acronym : CLN8;

Type : Phenotype, molecular basis known;

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 CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' 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 mutations in the CLN8 transmembrane ER and ERGIC protein gene (CLN8, 607837.0002);

Laboratory abnormalities : Intracellular fingerprint profiles on ultrastructural analysis; Intracellular curvilinear profiles on ultrastructural analysis;

Prefixed ID : #600143;

Details

Origin ID

600143;

UMLS CUI

C1838570;

Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal 8 [MeSH concept]
- Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) [SNOMED CT concept]
- ceroid lipofuscinosis, neuronal 8 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 8 [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 8 [DO Concept]
Genes related to phenotype
- Cln8 transmembrane er and ergic protein [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [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]
- EEG abnormality [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Myoclonus [HPO term]
- Progressive visual loss [HPO term]
- Seizure [HPO term]
- Speech and language difficulties [HPO term]
ORDO concept(s)
- CLN8 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)
- CLN8 disease [ORDO Disease]
- ceroid lipofuscinosis, neuronal 8 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients