Multiple self-healing squamous epithelioma: genes and variants
Multiple self-healing squamous epithelioma is linked to 1 analyzed protein (TGFBR1). 2 DNA variants are known to cause it; 11 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 Multiple self-healing squamous epithelioma
TGFBR1: TGF-beta receptor type-1
After activation by the ligand-bound receptor complex, it phosphorylates SMAD2 and SMAD3 to propagate TGF-beta signals. Germline pathogenic variants cause Loeys-Dietz syndrome type 1 with arterial aneurysm and dissection and variable craniofacial or skeletal features.
2 disease-causing and 11 uncertain variants in TGFBR1 are linked to Multiple self-healing squamous epithelioma.
Known disease-causing variants in Multiple self-healing squamous epithelioma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TGFBR1 G312S | 312 | Protein kinase | Disease-causing (★★) |
| TGFBR1 R487W | 487 | Protein kinase | Disease-causing (★★) |
Same protein, different disease
- Loeys-Dietz syndrome is also caused by TGFBR1 variants; they fall mostly in different places as the Multiple self-healing squamous epithelioma variants (23 disease-causing).
- Familial thoracic aortic aneurysm and aortic dissection is also caused by TGFBR1 variants; they fall mostly in different places as the Multiple self-healing squamous epithelioma variants (23 disease-causing).
Diseases related to Multiple self-healing squamous epithelioma
- Familial thoracic aortic aneurysm and aortic dissection, also linked to TGFBR1
- Marfan syndrome, also linked to TGFBR1
- Ehlers-Danlos syndrome, also linked to TGFBR1
- Loeys-Dietz syndrome, also linked to TGFBR1
- Familial aortopathy, also linked to TGFBR1
Frequently asked questions
Which genes are linked to Multiple self-healing squamous epithelioma?
In CATVariant, Multiple self-healing squamous epithelioma is linked to 1 analyzed protein: TGFBR1 (TGF-beta receptor type-1).
How many genetic variants are linked to Multiple self-healing squamous epithelioma?
20 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Multiple self-healing squamous epithelioma 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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