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GTR Home > Conditions/Phenotypes > Hypomyelinating leukodystrophy 4

Hypomyelinating leukodystrophy 4

Synonyms
MITCHAP60 DISEASE; MITOCHONDRIAL HSP60 CHAPERONOPATHY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. [from MONDO]

Available tests

44 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPN60, GROEL, HLD4, HSP-60, HSP60, HSP65, HuCHA60, SPG13, HSPD1
    Summary: heat shock protein family D (Hsp60) member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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