Insulin-dependent diabetes mellitus secretory diarrhea syndrome: genes and variants
Insulin-dependent diabetes mellitus secretory diarrhea syndrome is linked to 1 analyzed protein (FOXP3). 16 DNA variants are known to cause it; 137 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 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
FOXP3: Forkhead box protein P3
It establishes the transcriptional program of regulatory T cells and is essential for maintaining peripheral immune tolerance. Loss-of-function variants cause IPEX syndrome with severe early-onset autoimmunity, enteropathy, eczema, and endocrine disease.
16 disease-causing and 137 uncertain variants in FOXP3 are linked to Insulin-dependent diabetes mellitus secretory diarrhea syndrome.
Where Insulin-dependent diabetes mellitus secretory diarrhea syndrome variants cluster
- FOXP3 Fork-head (positions 337–423): 11 of 16 disease-causing changes, 3.4× more than its size predicts.
Known disease-causing variants in Insulin-dependent diabetes mellitus secretory diarrhea syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FOXP3 R397Q | 397 | Fork-head | Disease-causing (★★) |
| FOXP3 R397W | 397 | Fork-head | Disease-causing (★★) |
| FOXP3 A384T | 384 | Fork-head | Disease-causing (★★) |
| FOXP3 R347H | 347 | Fork-head | Disease-causing (★★) |
| FOXP3 R337Q | 337 | Fork-head | Disease-causing (★★) |
| FOXP3 A384V | 384 | Fork-head | Disease-causing (★) |
| FOXP3 M1K | 1 | Disease-causing (★) | |
| FOXP3 M370I | 370 | Fork-head | Disease-causing (★) |
| FOXP3 C232G | 232 | FoxP leucine zipper (ZIP) | Disease-causing (★) |
| FOXP3 I363V | 363 | Fork-head | Disease-causing (★) |
| FOXP3 F367L | 367 | Fork-head | Disease-causing (★) |
| FOXP3 A145V | 145 | Essential for transcriptional repressor activity | Disease-causing (★) |
| FOXP3 F371C | 371 | Fork-head | Disease-causing |
| FOXP3 M1I | 1 | Disease-causing | |
| FOXP3 F373A | 373 | Fork-head | Disease-causing |
| FOXP3 P75L | 75 | Nuclear export signal | Disease-causing |
Which prediction tools work for Insulin-dependent diabetes mellitus secretory diarrhea syndrome
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 84 out of 100
- PolyPhen-2: 77 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Diseases related to Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Type 1 diabetes mellitus, also linked to FOXP3
- Hydrops fetalis, also linked to FOXP3
Frequently asked questions
Which genes are linked to Insulin-dependent diabetes mellitus secretory diarrhea syndrome?
In CATVariant, Insulin-dependent diabetes mellitus secretory diarrhea syndrome is linked to 1 analyzed protein: FOXP3 (Forkhead box protein P3).
How many genetic variants are linked to Insulin-dependent diabetes mellitus secretory diarrhea syndrome?
175 variants: 16 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 137 are of uncertain significance or have conflicting reports.
Which uncertain variants in Insulin-dependent diabetes mellitus secretory diarrhea syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Insulin-dependent diabetes mellitus secretory diarrhea syndrome?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.84, based on 13 disease-causing and 24 harmless variants).
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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