Features include always present findings: Clumsiness, Inner ear hearing loss (sensorineural hearing impairment), Recurrent bacterial infections, and Intellectual disability and others; and common findings: Impaired vibratory sensation, Global developmental delay, and Conductive hearing impairment. 11 total HPO annotations.

HAX1 encodes HCLS1 associated protein X-1 (279 aa). Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex. Highest expression in Pituitary (179.3 TPM) and Cells EBV-transformed lymphocytes (151.2 TPM).

Kostmann syndrome is associated with mutations in the HAX1 gene on chromosome 1.

The HAX1 protein participates in CEBPA gene: LEF1 and CEBPA gene transcription is enhanced by RUNX1, SPI1 (PU.1), GATA2, TAL1 (SCL), FLI1, MYB, LEF1, and CEBPA pathways.

HAX1 is classified as a druggable target (Kinase, Transcription Factor Complex, and Transporter categories) with score 0.0.

Genetic testing for HAX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Kostmann syndrome has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 3 common features.

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

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE3. Research is primarily industry-sponsored.

30 publications have been identified in PubMed for Kostmann syndrome. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (27%), and Gene Therapy / Novel Therapeutics (10%).