Ceroid lipofuscinosis, neuronal, 3

Preferred Label : Ceroid lipofuscinosis, neuronal, 3;

Symbol : CLN3;

CISMeF acronym : CLN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : JNCL; Spielmeyer-sjogren disease; Vogt-spielmeyer disease; Neuronal ceroid lipofuscinosis, juvenile; Batten disease;

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 (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CLN3 lysosomal/endosomal transmembrane protein, Battenin gene (CLN3, 607042.0001);

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

Prefixed ID : #204200;

Details

Origin ID

204200;

UMLS CUI

C0751383;

Automatic exact mappings (from CISMeF team)
- CLN3 Gene [NCIt concept]
- CLN3 disease [ORDO Disease]
- CLN3 gene [LOINC component]
- CLN3 lysosomal/endosomal transmembrane protein, battenin [ORDO Gene]
- CLN3 lysosomal/endosomal transmembrane protein, battenin [HGNC gene]
- CLN3 wt Allele [NCIt concept]
- Neuronal ceroid lipofuscinosis [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Batten disease [Disease (Nov.)]
- Batten disease [DO Concept]
- Batten's disease [MedDRA LLT]
- Batten's syndrome [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 3 [NCIt concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- juvenile neuronal ceroid lipofuscinosis [SNOMED Notion]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 3 [DO Concept]
Genes related to phenotype
- Cln3 lysosomal/endosomal transmembrane protein, battenin [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Anxiety [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Concentric hypertrophic cardiomyopathy [HPO term]
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Glaucoma [HPO term]
- Increased extraneuronal autofluorescent lipopigment [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Intellectual disability [HPO term]
- Loss of ambulation [HPO term]
- Macular degeneration [HPO term]
- Myoclonus [HPO term]
- Optic atrophy [HPO term]
- Parkinsonism [HPO term]
- Progressive visual loss [HPO term]
- Progressive visual loss (4 to 10 years) [HPO term]
- Psychomotor deterioration [HPO term]
- Psychosis [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Undetectable electroretinogram [HPO term]
- Vacuolated lymphocytes [HPO term]
ORDO concept(s)
- CLN3 disease [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Batten disease [DO Concept]
- Batten disease [Disease (Nov.)]
- Batten's disease [MedDRA LLT]
- Batten's syndrome [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis [MedDRA LLT]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 3 [NCIt concept]
- Spielmeyer-Vogt disease [PASCAL descriptor]
- Vogt-Spielmeyer disease [MedDRA LLT]
- juvenile neuronal ceroid lipofuscinosis [SNOMED Notion]
- juvenile neuronal ceroid lipofuscinosis [MeSH concept]
- neuronal ceroid lipofuscinosis 3 [DO Concept]
Validated automatic mappings to NTBT
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]

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