Details of Disease | DrugMAP

General Information of Disease (ID: DISZIB0Z)

Disease Name	Hypomyelinating leukodystrophy 10
Synonyms	leukodystrophy, hypomyelinating, 10; HLD10; PYCR2 leukodystrophy; leukodystrophy caused by mutation in PYCR2; leukodystrophy, hypomyelinating, type 10; hypomyelinating leukodystrophy type 10
Definition	Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISZIB0Z: Hypomyelinating leukodystrophy 10
Disease Identifiers	MONDO ID MONDO_0014632 UMLS CUI C4225332 OMIM ID 616420 MedGen ID 904191 SNOMED CT ID 1237421000

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
PYCR2	OTS2HLGD	Definitive	Autosomal recessive	[1]
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References

1	Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 7;96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9.