Ceroid lipofuscinosis, neuronal, 11

Preferred Label : Ceroid lipofuscinosis, neuronal, 11;

Symbol : CLN11;

CISMeF acronym : CLN11;

Type : Phenotype, molecular basis known;

Description : Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012). 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 granulin precursor gene (GRN, 138945.0015);

Laboratory abnormalities : 'Fingerprint' profiles ultrastructurally;

Prefixed ID : #614706;

Détails

Origin ID

614706;

UMLS CUI

C3539123;

Automatic exact mappings (from CISMeF team)
- GRN wt Allele [NCIt concept]
- granulin precursor [ORDO Gene]
- granulin precursor [HGNC gene]
Currated CISMeF NLP mapping
- CLN11 disease [ORDO Disease]
- Neuronal Ceroid Lipofuscinosis Type 11 [NCIt concept]
- neuronal ceroid lipofuscinosis 11 [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 11 [DO Concept]
Genes related to phenotype
- Granulin precursor [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- EEG abnormality [HPO term]
- Generalized myoclonic seizure [HPO term]
- Mental deterioration [HPO term]
- Optic atrophy [HPO term]
- Rapidly progressive [HPO term]
- Retinal dystrophy [HPO term]
- Seizure [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- CLN11 disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN11 disease [ORDO Disease]
- Neuronal Ceroid Lipofuscinosis Type 11 [NCIt concept]
- neuronal ceroid lipofuscinosis 11 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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