Leukoencephalopathy, progressive, with ovarian failure

Preferred Label : Leukoencephalopathy, progressive, with ovarian failure;

Symbol : LKENP;

CISMeF acronym : LKENP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alanyl-tRNA synthetase 2 gene (AARS2, 612035.0004);

Prefixed ID : #615889;

Details

Origin ID

615889;

UMLS CUI

C4014588;

Automatic exact mappings (from CISMeF team)
- AARS2 wt Allele [NCIt concept]
Genes related to phenotype
- Alanyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Apraxia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Leukoencephalopathy [HPO term]
- Loss of speech [HPO term]
- Neurodegeneration [HPO term]
- Nystagmus [HPO term]
- Periventricular leukomalacia [HPO term]
- Premature ovarian insufficiency [HPO term]
- Progressive [HPO term]
- Progressive leukoencephalopathy [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- CACH syndrome [ORDO Disease]
- Ovarioleukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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