thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
Findings
No curated finding names thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0958000), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
72 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cavum septum pellucidumHPOHP:0002389
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 2 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 3 of 3 reported patients
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Gray matter heterotopiaHPOHP:0002282
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RAP1BHGNC:9857
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · ClinGen · Autosomal dominant · 2026
- Limited · G2P · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
- Also called
- RAP1B-related thrombocytopenia with multiple congenital anomalies and dysmorphic facies