Details of Disease

General Information of Disease (ID: DISPBAUD)

Disease Name Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Synonyms
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation; leukoencephalopathy with brain stem and spinal cord involvement - high lactate; mitochondrial aspartyl-tRNA synthetase deficiency; leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation; LBSL; Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation; leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome; leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Definition This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DISPBAUD: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Disease Identifiers
MONDO ID
MONDO_0012622
MESH ID
C567009
UMLS CUI
C1970180
OMIM ID
611105
MedGen ID
370845
Orphanet ID
137898
SNOMED CT ID
703537008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RARS1 OTHPZ6JN moderate Genetic Variation [1]
RARS2 OT3WLAD8 moderate Genetic Variation [1]
DARS1 OT0WGC2T Strong Genetic Variation [1]
DARS2 OTVPFTBG Definitive Autosomal dominant [2]
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References

1 Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.J Biol Chem. 2018 Aug 31;293(35):13604-13615. doi: 10.1074/jbc.RA118.003400. Epub 2018 Jul 13.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.