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Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

Summary

Thrombocytopenia-11 with multiple congenital anomalies and dysmorphic facies (THC11) is a syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. The disorder results from constitutive activation of the RAS signaling pathway and can be considered a RASopathy (Niemann et al., 2020; Miller et al., 2022). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: K-REV, RAL1B, THC11, RAP1B
    Summary: RAP1B, member of RAS oncogene family

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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