Features include always present findings: Poor head control, Strabismus, Babinski sign, and Global developmental delay and others; and very common findings: Nystagmus. 20 total HPO annotations.

HSPD1 encodes heat shock protein family D (Hsp60) member 1 (573 aa). Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. Highest expression in Cells EBV-transformed lymphocytes (621.5 TPM) and Adrenal Gland (611.7 TPM).

Hypomyelinating leukodystrophy 4 is associated with mutations in the HSPD1 gene on chromosome 2.

The HSPD1 protein participates in ATF5 and HSF1 trimer activate expression of HSPD1, ATF5 and HSF1 trimer bind the bidirectional promoter of the HSPD1 gene and HSPE1 gene, and TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation pathways.

HSPD1 is classified as a druggable target (Cell Surface, Druggable Genome, and Enzyme categories) with score 17.4.

Genetic testing for HSPD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypomyelinating leukodystrophy 4 has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 1 very common feature, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for hypomyelinating leukodystrophy 4.

28 publications have been identified in PubMed for hypomyelinating leukodystrophy 4. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (18%).