Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant

Preferred Label : Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant;

CISMeF acronym : EPMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EPMR; Epilepsy, progressive, with mental retardation; Northern epilepsy;

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 mutation in the CLN8 transmembrane ER and ERGIC protein gene (CLN8, 607837.0001);

Laboratory abnormalities : Intracellular curvilinear profiles on ultrastructural analysis; Intracellular granular material on ultrastructural analysis;

Prefixed ID : #610003;

Détails

Origin ID

610003;

UMLS CUI

C1864923;

Automatic exact mappings (from CISMeF team)
- Epilepsy, Progressive, With Mental Retardation [MeSH concept]
- Finnish variant of late infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Ceroid lipofuscinosis, neuronal 8 [MeSH concept]
- Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) [SNOMED CT concept]
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
- ceroid lipofuscinosis, neuronal 8 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant [DO Concept]
Genes related to phenotype
- Cln8 transmembrane er and ergic protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar atrophy, progressive [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral atrophy, progressive [HPO term]
- Clumsiness [HPO term]
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- EEG abnormality [HPO term]
- Focal impaired awareness seizure [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Mental deterioration [HPO term]
- Restlessness [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ceroid lipofuscinosis, neuronal 8 [MeSH concept]
- Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) [SNOMED CT concept]
- Progressive epilepsy-intellectual disability syndrome, Finnish type [ORDO Disease]
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant [DO Concept]

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