Details of Disease | DrugMAP

General Information of Disease (ID: DISJ0Y1E)

Disease Name	Hypomyelinating leukodystrophy 3
Synonyms	perinatal Sudanophilic leukodystrophy; leukodystrophy, hypomyelinating 3; leukodystrophy, hypomyelinating, 3; Pelizaeus-Merzbacher-like disease due to AIMP1 mutation; AIMP1 leukodystrophy; leukodystrophy, hypomyelinating, type 3; HLD3; leukodystrophy caused by mutation in AIMP1; hypomyelinating leukodystrophy 3; hypomyelinating leukodystrophy type 3
Definition	Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISLYB1F: Pelizaeus-Merzbacher-like disease DISJ0Y1E: Hypomyelinating leukodystrophy 3
Disease Identifiers	MONDO ID MONDO_0009843 MESH ID C536319 UMLS CUI C1850053 OMIM ID 260600 MedGen ID 342403 Orphanet ID 280293

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AIMP1	OTTA5C3U	Strong	Autosomal recessive	[1]
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References

1	Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18.