Ceroid lipofuscinosis, neuronal, 7

Preferred Label : Ceroid lipofuscinosis, neuronal, 7;

Symbol : CLN7;

CISMeF acronym : CLN7;

Type : Phenotype, molecular basis known;

Description : The neuronal ceroid lipofuscinoses (NCL, or 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 (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 major facilitator superfamily domain-containing protein-8 gene (MFSD8, 611124.0001);

Prefixed ID : #610951;

Details

Origin ID

610951;

UMLS CUI

C1838571;

Automatic exact mappings (from CISMeF team)
- MFSD8 wt Allele [NCIt concept]
- symbol withdrawn CLN7 [HGNC gene]
Currated CISMeF NLP mapping
- CLN7 disease [ORDO Disease]
- ceroid lipofuscinosis, neuronal, 7 [MeSH concept]
- ceroid lipofuscinosis, neuronal, 7 [MeSH Supplementary Concept]
- neuronal ceroid lipofuscinosis 7 [DO Concept]
- neuronal ceroid lipofuscinosis 7 [Disease (Nov.)]
DO Cross reference
- neuronal ceroid lipofuscinosis 7 [DO Concept]
Genes related to phenotype
- Major facilitator superfamily domain-containing protein 8 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed speech and language development [HPO term]
- EEG abnormality [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Juvenile onset [HPO term]
- Mental deterioration [HPO term]
- Neurodegeneration [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Rapidly progressive [HPO term]
- Retinopathy [HPO term]
- Sleep disturbance [HPO term]
- Speech delay [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- CLN7 disease [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN7 disease [ORDO Disease]
- ceroid lipofuscinosis, neuronal, 7 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 7 [MeSH concept]
- neuronal ceroid lipofuscinosis 7 [DO Concept]
- neuronal ceroid lipofuscinosis 7 [Disease (Nov.)]

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