Lopes-Maciel-Rodan syndrome: genes and variants
Lopes-Maciel-Rodan syndrome is linked to 1 analyzed protein (HTT). 1 DNA variants are known to cause it; 10 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 Lopes-Maciel-Rodan syndrome
HTT: Huntingtin
It participates in intracellular transport, autophagy, synaptic function, and other neuronal processes. Expansion of the CAG repeat produces an abnormally long polyglutamine tract and causes Huntington disease through a toxic gain of function.
1 disease-causing and 10 uncertain variants in HTT are linked to Lopes-Maciel-Rodan syndrome.
Known disease-causing variants in Lopes-Maciel-Rodan syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HTT F2717Y | 2717 | Disease-causing |
Frequently asked questions
Which genes are linked to Lopes-Maciel-Rodan syndrome?
In CATVariant, Lopes-Maciel-Rodan syndrome is linked to 1 analyzed protein: HTT (Huntingtin).
How many genetic variants are linked to Lopes-Maciel-Rodan syndrome?
11 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Lopes-Maciel-Rodan 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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