Features include always present findings: Microtia, Depressed nasal ridge, Bifid nasal tip, and Coronal cleft vertebrae and others; and common findings: Dysplastic corpus callosum, Anal atresia, Aplasia cutis congenita, and Vesicoureteral reflux and others. 30 total HPO annotations.

HSPA9 encodes heat shock protein family A (Hsp70) member 9 (679 aa). Mitochondrial chaperone that plays a key role in mitochondrial protein import, folding, and assembly. Highest expression in Cells EBV-transformed lymphocytes (301.8 TPM) and Adrenal Gland (278.0 TPM).

Even-plus syndrome is associated with mutations in the HSPA9 gene on chromosome 5.

The HSPA9 protein participates in ATF5 and HSF1 trimer bind the HSPA9 gene, ATF5 and HSF1 trimer activate expression of HSPA9 (mtHSP70), and Expression of Stress-70 protein, mitochondrial pathways.

HSPA9 is classified as a druggable target with score 156.6.

Genetic testing for HSPA9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for even-plus syndrome has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 8 common features.

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

No clinical trials have been registered for even-plus syndrome.

104 publications have been identified in PubMed for even-plus syndrome. Research spans Review / Meta-Analysis (50%), Epidemiology / Natural History (22%), and Case Report / Case Series (9%).