hypomyelinating leukodystrophy 4

Summary
Synonym
  • HLD4
  • MitCHAP60 disease
  • Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
  • mitochondrial HSP60 chaperonopathy
Definition
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.
Super Class
autosomal recessive disease hypomyelinating leukodystrophy
Disease Ontology
DOID:0060789
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3329 HSPD1 heat shock protein family D (Hsp60) member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P10809 60 kDa heat shock protein, mitochondrial

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025