thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
MONDO:0958000
Any inherited thrombocytopenia caused by a variation in the RAP1B gene, which encodes a small GTPase that regulates integrin activation and RAS/MAPK signaling, characterized by chronic thrombocytopenia (often with leukopenia or lymphopenia), dysmorphic facial features, poor growth with microcephaly, hypotonia, mild intellectual or learning disability, and variable congenital anomalies of the heart, brain, skeletal, genitourinary, or endocrine systems.
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
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.