Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome: genes and variants
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome is linked to 1 analyzed protein (CDC42). 6 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
CDC42: Cell division control protein 42 homolog
It acts as a molecular switch controlling actin organization, cell polarity, migration, vesicle trafficking, and multiple developmental signaling pathways. Germline dysregulating variants can cause Takenouchi-Kosaki syndrome and related neurodevelopmental disorders with hematologic and immune abnormalities.
6 disease-causing and 1 uncertain variants in CDC42 are linked to Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome.
Known disease-causing variants in Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDC42 R66G | 66 | Disease-causing (★★) | |
| CDC42 Y64C | 64 | Disease-causing (★★) | |
| CDC42 R68Q | 68 | Disease-causing (★★) | |
| CDC42 C81F | 81 | Disease-causing (★★) | |
| CDC42 I46T | 46 | Disease-causing (★) | |
| CDC42 D76V | 76 | Disease-causing (★) |
Diseases related to Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- Fetal anomalies with a likely genetic cause, also linked to CDC42
- Familial hemophagocytic lymphohistiocytosis, also linked to CDC42
Frequently asked questions
Which genes are linked to Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome?
In CATVariant, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome is linked to 1 analyzed protein: CDC42 (Cell division control protein 42 homolog).
How many genetic variants are linked to Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome?
11 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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