Features include sometimes findings: 11 pairs of ribs and Intellectual disability. 22 total HPO annotations.

HDAC6 encodes histone deacetylase 6 (1,215 aa). Deacetylates a wide range of non-histone substrates. Plays a central role in microtubule-dependent cell motility by mediating deacetylation of tubulin. Highest expression in Pituitary (105.3 TPM) and Testis (93.7 TPM).

X-linked dominant chondrodysplasia, Chassaing-Lacombe type is associated with mutations in the HDAC6 gene on chromosome X.

The HDAC6 protein participates in HDAC6 deacetylates microtubules, Dissociation of cytosolic HSF1:HSP90:HDAC6:PTGES3 upon sensing protein aggregates, and PolyUb-misfolded proteins bind VCP:HDAC6:HSP90:HSF1 pathways.

HDAC6 is classified as a druggable target (Druggable Genome, Enzyme, and Transcription Factor categories) with score 3.7.

Genetic testing for HDAC6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for X-linked dominant chondrodysplasia, Chassaing-Lacombe type has been reported in the published literature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for X-linked dominant chondrodysplasia, Chassaing-Lacombe type.

102 publications have been identified in PubMed for X-linked dominant chondrodysplasia, Chassaing-Lacombe type. Kisho has analyzed 54 by research type. Research spans Review / Meta-Analysis (37%), Case Report / Case Series (26%), and Basic Science / Preclinical (17%).