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Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.
Features include always present findings: Hydrocele testis and Radioulnar synostosis; and common findings: Cleft palate, Mild intellectual disability, Overlapping fingers, and Short middle phalanx of the 4th finger and others. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 4 | Low red blood cell count (anemia), Congenital thrombocytopenia, Low platelet count (thrombocytopenia) |
Arms and legs | 2 | Overlapping fingers, Short middle phalanx of the 4th finger |
Pregnancy and birth | 2 | Congenital thrombocytopenia, Hydrops fetalis |
Head and neck | 1 | Cleft palate |
Brain and nerves | 1 | Mild intellectual disability |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Digestive system | 1 | Hepatosplenomegaly |
Age of onset: at birth, before birth.
MECOM encodes MDS1 and EVI1 complex locus (1,230 aa). Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Highest expression in Stomach (33.9 TPM) and Kidney Medulla (23.4 TPM).
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 is associated with mutations in the MECOM gene on chromosome 3.
The MECOM protein participates in Expression of MECOM (EVI1) in the nephric duct, MECOM (KMT8E), PRDM16 (KMT8F) methylate lysine-10 of replicative histone H3 (H3K9), and PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUN pathways.
MECOM is classified as a druggable target (Clinically Actionable and Tumor Suppressor categories) with score 17.4.
Genetic testing for MECOM is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 9 common features.
No clinical trials have been registered for radioulnar synostosis with amegakaryocytic thrombocytopenia 2.
2 publications have been identified in PubMed for radioulnar synostosis with amegakaryocytic thrombocytopenia 2. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Schecter DR (2026). [PMID: 41635268](https://pubmed.ncbi.nlm.nih.gov/41635268/). *Am J Med Genet A*. [Case Report / Case Series]
Li J (2025). [PMID: 40170114](https://pubmed.ncbi.nlm.nih.gov/40170114/). *J Med Case Rep*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:39 PM UTC
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