Details of Disease | DrugMAP

General Information of Disease (ID: DISLDO8X)

Disease Name	Hypomyelinating leukodystrophy 4
Synonyms	leukodystrophy, hypomyelinating, 4; mitochondrial Hsp60 chaperonopathy; Mitchap60 disease; hypomyelinating leukodystrophy type 4; leukodystrophy caused by mutation in HSPD1; HSPD1 leukodystrophy; MitCHAP60 disease; HLD4; Pelizaeus-Merzbacher-like disease due to HSPD1 mutation; mitochondrial HSP60 chaperonopathy; leukodystrophy, hypomyelinating, type 4
Definition	Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISLYB1F: Pelizaeus-Merzbacher-like disease DISLDO8X: Hypomyelinating leukodystrophy 4
Disease Identifiers	MONDO ID MONDO_0012824 MESH ID C567390 UMLS CUI C2677109 OMIM ID 612233 MedGen ID 383026 Orphanet ID 280288 SNOMED CT ID 870284000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPD1	TT9HL5R	Limited	Biomarker	[1]
HSPD1	TT9HL5R	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPD1	OTTO1Y11	Strong	Autosomal recessive	[2]
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References

1	Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.Hum Genome Var. 2018 Jul 19;5:18. doi: 10.1038/s41439-018-0020-z. eCollection 2018.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.