ACTB-associated syndromic thrombocytopenia
MONDO:0100433
A syndromic constitutional thrombocytopenia caused by a variation in the ACTB gene, associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets. Unlike many inherited platelet disorders, spontaneous bleeding is often limited, and the phenotype reflects a combined disturbance of platelet formation and neurodevelopmental and craniofacial patterning.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
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Trial status
Trial phase
Study start year
Investigated drug interventions
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.