Ectopia lentis 1, isolated, autosomal dominant: genes and variants
Ectopia lentis 1, isolated, autosomal dominant is linked to 1 analyzed protein (FBN1). 6 DNA variants are known to cause it; 36 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 Ectopia lentis 1, isolated, autosomal dominant
FBN1: Fibrillin-1
Its fibrillin-1 microfibrils provide mechanical support to elastic tissues and regulate local availability of growth factors such as TGF-beta. Pathogenic variants cause Marfan syndrome and related fibrillinopathies affecting the aorta, skeleton, eyes, skin, and lungs.
6 disease-causing and 36 uncertain variants in FBN1 are linked to Ectopia lentis 1, isolated, autosomal dominant.
Known disease-causing variants in Ectopia lentis 1, isolated, autosomal dominant
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FBN1 C582Y | 582 | EGF-like 9 | Disease-causing (★★) |
| FBN1 N1046S | 1046 | EGF-like 15 | Disease-causing (★★) |
| FBN1 C119G | 119 | EGF-like 2 | Disease-causing (★★) |
| FBN1 C136F | 136 | EGF-like 2 | Disease-causing (★★) |
| FBN1 C570S | 570 | EGF-like 8 | Disease-causing (★) |
| FBN1 C734R | 734 | EGF-like 11 | Disease-causing (★) |
Same protein, different disease
- Marfan syndrome is also caused by FBN1 variants; they fall mostly in different places as the Ectopia lentis 1, isolated, autosomal dominant variants (434 disease-causing).
- Familial thoracic aortic aneurysm and aortic dissection is also caused by FBN1 variants; they fall mostly in different places as the Ectopia lentis 1, isolated, autosomal dominant variants (406 disease-causing).
- Isolated thoracic aortic aneurysm is also caused by FBN1 variants; they fall mostly in different places as the Ectopia lentis 1, isolated, autosomal dominant variants (12 disease-causing).
- Marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections is also caused by FBN1 variants; they fall mostly in different places as the Ectopia lentis 1, isolated, autosomal dominant variants (10 disease-causing).
- Acromicric dysplasia is also caused by FBN1 variants; they fall mostly in different places as the Ectopia lentis 1, isolated, autosomal dominant variants (6 disease-causing).
Diseases related to Ectopia lentis 1, isolated, autosomal dominant
- Familial thoracic aortic aneurysm and aortic dissection, also linked to FBN1
- Marfan syndrome, also linked to FBN1
- Perrault syndrome, also linked to FBN1
- Connective tissue disorder, also linked to FBN1
- Familial aortopathy, also linked to FBN1
- Isolated thoracic aortic aneurysm, also linked to FBN1
- Marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections, also linked to FBN1
- Acromicric dysplasia, also linked to FBN1
- Geleophysic dysplasia, also linked to FBN1
- MASS syndrome, also linked to FBN1
- Weill-Marchesani syndrome 2, dominant, also linked to FBN1
- Stiff skin syndrome, also linked to FBN1
Frequently asked questions
Which genes are linked to Ectopia lentis 1, isolated, autosomal dominant?
In CATVariant, Ectopia lentis 1, isolated, autosomal dominant is linked to 1 analyzed protein: FBN1 (Fibrillin-1).
How many genetic variants are linked to Ectopia lentis 1, isolated, autosomal dominant?
57 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 36 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ectopia lentis 1, isolated, autosomal dominant 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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