loading...| Preferred Name |
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION |
| Synonyms |
LBSL |
| ID |
http://purl.bioontology.org/ontology/OMIM/611105 |
| altLabel |
LBSL MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY |
| cui |
C1970180 |
| Gene Locus |
1q25.1 |
| Gene Symbol |
ASPRS. LBSL DARS2 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU043062 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU001038 http://purl.bioontology.org/ontology/OMIM/MTHU033860 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU004914 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU033858 http://purl.bioontology.org/ontology/OMIM/MTHU033861 http://purl.bioontology.org/ontology/OMIM/MTHU001772 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
611105 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION |
| Scope Statement |
Onset between age 2 and 15 years [MISCELLANEOUS] One patient with episodic ataxia and later onset has been reported (as of June 2010) [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the aspartyl-tRNA synthetase 2 gene (DARS2, 610956.0001) [MOLECULAR BASIS] Slowly progressive [MISCELLANEOUS] |
| tui |
T047 |