Cardiac valvular dysplasia, X-linked: genes and variants
Cardiac valvular dysplasia, X-linked is linked to 1 analyzed protein (FLNA). 4 DNA variants are known to cause it; 22 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 Cardiac valvular dysplasia, X-linked
FLNA: Filamin-A
It crosslinks actin and connects the cytoskeleton to membrane receptors and signaling proteins during cell migration and tissue morphogenesis. Pathogenic variants cause a broad spectrum including periventricular nodular heterotopia and several skeletal or connective-tissue disorders.
4 disease-causing and 22 uncertain variants in FLNA are linked to Cardiac valvular dysplasia, X-linked.
Known disease-causing variants in Cardiac valvular dysplasia, X-linked
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FLNA G1554R | 1554 | Filamin 14 | Disease-causing (★★) |
| FLNA G2436R | 2436 | Filamin 23 | Disease-causing (★) |
| FLNA P637Q | 637 | Filamin 4 | Disease-causing |
| FLNA V711D | 711 | Filamin 5 | Disease-causing |
Same protein, different disease
- Oto-palato-digital syndrome, type II is also caused by FLNA variants; they fall mostly in different places as the Cardiac valvular dysplasia, X-linked variants (14 disease-causing).
- Heterotopia, periventricular, X-linked dominant is also caused by FLNA variants; they fall mostly in different places as the Cardiac valvular dysplasia, X-linked variants (14 disease-causing).
- Frontometaphyseal dysplasia is also caused by FLNA variants; they fall mostly in different places as the Cardiac valvular dysplasia, X-linked variants (12 disease-causing).
- Melnick-Needles syndrome is also caused by FLNA variants; they fall mostly in different places as the Cardiac valvular dysplasia, X-linked variants (8 disease-causing).
Diseases related to Cardiac valvular dysplasia, X-linked
- Familial thoracic aortic aneurysm and aortic dissection, also linked to FLNA
- Connective tissue disorder, also linked to FLNA
- Heterotopia, periventricular, X-linked dominant, also linked to FLNA
- Oto-palato-digital syndrome, type II, also linked to FLNA
- Frontometaphyseal dysplasia, also linked to FLNA
- Melnick-Needles syndrome, also linked to FLNA
- Periventricular nodular heterotopia, also linked to FLNA
- FG syndrome, also linked to FLNA
Frequently asked questions
Which genes are linked to Cardiac valvular dysplasia, X-linked?
In CATVariant, Cardiac valvular dysplasia, X-linked is linked to 1 analyzed protein: FLNA (Filamin-A).
How many genetic variants are linked to Cardiac valvular dysplasia, X-linked?
28 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 22 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cardiac valvular dysplasia, X-linked 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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