Meacham syndrome: genes and variants
Meacham syndrome is linked to 1 analyzed protein (WT1). 1 DNA variants are known to cause it; 2 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 Meacham syndrome
WT1: Wilms tumor protein
It controls transcriptional programs required for kidney and gonadal development and also restrains or promotes cell growth in a context-dependent manner. Germline pathogenic variants cause Wilms-tumor predisposition and Denys-Drash or Frasier syndromes, while somatic alterations occur in some leukemias.
1 disease-causing and 2 uncertain variants in WT1 are linked to Meacham syndrome.
Known disease-causing variants in Meacham syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| WT1 H405R | 405 | C2H2-type 3 | Disease-causing (★) |
Same protein, different disease
- Frasier syndrome is also caused by WT1 variants; they fall mostly in different places as the Meacham syndrome variants (6 disease-causing).
- Wilms tumor is also caused by WT1 variants; they fall mostly in different places as the Meacham syndrome variants (6 disease-causing).
- 11p partial monosomy syndrome is also caused by WT1 variants; they fall mostly in different places as the Meacham syndrome variants (5 disease-causing).
Diseases related to Meacham syndrome
- Nephrotic syndrome, also linked to WT1
- Acute myeloid leukemia, also linked to WT1
- Wilms tumor, also linked to WT1
- Frasier syndrome, also linked to WT1
- 11p partial monosomy syndrome, also linked to WT1
- Kidney disorder, also linked to WT1
Frequently asked questions
Which genes are linked to Meacham syndrome?
In CATVariant, Meacham syndrome is linked to 1 analyzed protein: WT1 (Wilms tumor protein).
How many genetic variants are linked to Meacham syndrome?
5 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Meacham 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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