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radioulnar synostosis with amegakaryocytic thrombocytopenia 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

radioulnar synostosis with amegakaryocytic thrombocytopenia 1

MONDO:0024558

Also known as:HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeradio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11RUSAT1

Overview

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.

GeneticsAutosomal dominant · HOXA11 (chr 7)

ResearchLimited published research (3 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: Proximal radio-ulnar synostosis, Ulnar bowing, Shallow acetabular fossae, and Aplastic anemia and 11 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HOXA11 encodes homeobox A11 (313 aa). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis Highest expression in Uterus (200.7 TPM) and Cervix Endocervix (111.2 TPM).

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 has limited evidence linking it to mutations in the HOXA11 gene on chromosome 7.

The HOXA11 protein participates in EYA1, PAX2, and HOX11 paralog bind the SIX2 gene and EYA1, PAX2, and HOX11 paralog bind the GDNF gene pathways.

HOXA11 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 26.1.

Diagnosis

Genetic testing for HOXA11 is available. Testing is considered research-grade for diagnosis.

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 radioulnar synostosis with amegakaryocytic thrombocytopenia 1.

3 publications have been identified in PubMed for radioulnar synostosis with amegakaryocytic thrombocytopenia 1. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Schecter DR (2026). [PMID: 41635268](https://pubmed.ncbi.nlm.nih.gov/41635268/). *Am J Med Genet A*. [Case Report / Case Series]
Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]
Li J (2025). [PMID: 40170114](https://pubmed.ncbi.nlm.nih.gov/40170114/). *J Med Case Rep*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605432

GARD

Genetic and Rare Diseases Info Center

GARD:18068

Questions for Your Care Team

→Should I pursue genetic testing for HOXA11, 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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radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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