Lethal polymalformative syndrome, Boissel type: genes and variants
Lethal polymalformative syndrome, Boissel type is linked to 1 analyzed protein (FTO). 1 DNA variants are known to cause it; 24 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 Lethal polymalformative syndrome, Boissel type
FTO: Alpha-ketoglutarate-dependent dioxygenase FTO
It removes selected methyl modifications from RNA and participates in regulation of energy balance and cellular metabolism. Common intronic variation at the FTO locus has one of the strongest replicated genetic associations with body-mass index and obesity risk.
1 disease-causing and 24 uncertain variants in FTO are linked to Lethal polymalformative syndrome, Boissel type.
Known disease-causing variants in Lethal polymalformative syndrome, Boissel type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FTO S319F | 319 | Fe2OG dioxygenase domain | Disease-causing |
Diseases related to Lethal polymalformative syndrome, Boissel type
- Type 2 diabetes mellitus, also linked to FTO
- Diabetes mellitus, also linked to FTO
- Chronic kidney disease, also linked to FTO
Frequently asked questions
Which genes are linked to Lethal polymalformative syndrome, Boissel type?
In CATVariant, Lethal polymalformative syndrome, Boissel type is linked to 1 analyzed protein: FTO (Alpha-ketoglutarate-dependent dioxygenase FTO).
How many genetic variants are linked to Lethal polymalformative syndrome, Boissel type?
32 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 24 are of uncertain significance or have conflicting reports.
Which uncertain variants in Lethal polymalformative syndrome, Boissel type 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center