Details of Disease | DrugMAP

General Information of Disease (ID: DIS2LO8B)

Disease Name	Leukodystrophy, hypomyelinating, 15
Synonyms	HLD15; leukodystrophy, hypomyelinating, 15
Disease Hierarchy	DISVY1TT: Leukodystrophy DIS2LO8B: Leukodystrophy, hypomyelinating, 15
Disease Identifiers	MONDO ID MONDO_0054782 UMLS CUI C4693733 OMIM ID 617951 MedGen ID 1633653

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EPRS1	TTXYCDZ	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPRS1	OTXK0FLB	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22.