Features include always present findings: Reduced platelet alpha granules, Low platelet count (thrombocytopenia), and Reduced platelet dense granules; and common findings: Impaired arachidonic acid-induced platelet aggregation, Impaired collagen-induced platelet aggregation, and Impaired ADP-induced platelet aggregation. 8 total HPO annotations.

IKZF5 encodes IKAROS family zinc finger 5 (419 aa). Transcriptional repressor that binds the core 5'GNNTGTNG-3' DNA consensus sequence. Involved in megakaryocyte differentiation Highest expression in Ovary (28.8 TPM) and Nerve Tibial (25.5 TPM).

Thrombocytopenia 7 has limited evidence linking it to mutations in the IKZF5 gene on chromosome 10.

IKZF5 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for IKZF5 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for thrombocytopenia 7 has been reported in the published literature.

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

No clinical trials have been registered for thrombocytopenia 7.

17 publications have been identified in PubMed for thrombocytopenia 7. Research spans Clinical Trial Publication (41%), Epidemiology / Natural History (35%), and Review / Meta-Analysis (12%).