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thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

MONDO:0958000

Overview

GeneticsAutosomal dominant · RAP1B (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Cavum septum pellucidum, Mild intellectual disability, Renal hypoplasia, and Low muscle tone (hypotonia) and others; and common findings: Short stature, Unilateral renal agenesis, Short palpebral fissure, and Sparse eyebrow and others. 72 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Mild intellectual disability, Global developmental delay, Enlarged brain ventricles (ventriculomegaly)

Genetic Landscape

RAP1B function has not been fully characterized.

Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies has been associated with mutations in the RAP1B gene on chromosome 12.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for RAP1B is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies has been reported in the published literature.

Prognosis

Phenotype severity distribution: 19 always present features, 23 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies.

2 publications have been identified in PubMed for thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

Bianchi C (2024). [PMID: 38432067](https://pubmed.ncbi.nlm.nih.gov/38432067/). *Br J Haematol*. [Case Report / Case Series]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620654

Questions for Your Care Team

→Should I pursue genetic testing for RAP1B, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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