Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Preferred Label : Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation;

Symbol : LBSL;

CISMeF acronym : LBSL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial aspartyl-trna synthetase deficiency;

Description : Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aspartyl-tRNA synthetase 2 gene (DARS2, 610956.0001);

Prefixed ID : #611105;

Details

Origin ID

611105;

UMLS CUI

C1970180;

Automatic exact mappings (from CISMeF team)
- DARS2 wt Allele [NCIt concept]
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [NCIt concept]
Currated CISMeF NLP mapping
- Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder) [SNOMED CT concept]
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [NCIt concept]
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) [SNOMED CT concept]
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
- Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevation [ICD-11 More detail]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (disorder) [SNOMED CT concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH Supplementary Concept]
Genes related to phenotype
- Aspartyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Flexion contracture [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Leukoencephalopathy [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [NCIt concept]
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) [SNOMED CT concept]
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (disorder) [SNOMED CT concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH Supplementary Concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH concept]

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