Leukoencephalopathy with ataxia

Preferred Label : Leukoencephalopathy with ataxia;

Symbol : LKPAT;

CISMeF acronym : LKPAT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chloride channel 2 gene (CLCN2, 600570.0006);

Prefixed ID : #615651;

Details

Origin ID

615651;

UMLS CUI

C4554120;

Currated CISMeF NLP mapping
- Leukoencephalopathy with Ataxia [NCIt concept]
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ORDO Disease]
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) [SNOMED CT concept]
Genes related to phenotype
- Chloride channel 2 [OMIM gene]
HPO term(s)
- Abnormal chorioretinal morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Gait ataxia [HPO term]
- Headache [HPO term]
- Leukoencephalopathy [HPO term]
- Limb ataxia [HPO term]
- Optic neuropathy [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukoencephalopathy with Ataxia [NCIt concept]
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) [SNOMED CT concept]

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