Uruguay Faciocardiomusculoskeletal syndrome: genes and variants
Uruguay Faciocardiomusculoskeletal syndrome is linked to 1 analyzed protein (FHL1). 1 DNA variants are known to cause it; 6 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 Uruguay Faciocardiomusculoskeletal syndrome
FHL1: Four and a half LIM domains protein 1
It organizes protein complexes in striated muscle and participates in mechanosensing, sarcomere structure, and transcriptional responses. X-linked pathogenic variants cause a spectrum including reducing-body myopathy, Emery-Dreifuss muscular dystrophy, scapuloperoneal myopathy, and cardiomyopathy.
1 disease-causing and 6 uncertain variants in FHL1 are linked to Uruguay Faciocardiomusculoskeletal syndrome.
Known disease-causing variants in Uruguay Faciocardiomusculoskeletal syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FHL1 C150R | 150 | LIM zinc-binding 2 | Disease-causing (★★) |
Same protein, different disease
- X-linked myopathy with postural muscle atrophy is also caused by FHL1 variants; they fall mostly in different places as the Uruguay Faciocardiomusculoskeletal syndrome variants (17 disease-causing).
- Myopathy, reducing body, X-linked, early-onset, severe is also caused by FHL1 variants; they fall mostly in different places as the Uruguay Faciocardiomusculoskeletal syndrome variants (5 disease-causing).
- Myopathy, reducing body, X-linked, childhood-onset is also caused by FHL1 variants; they fall mostly in different places as the Uruguay Faciocardiomusculoskeletal syndrome variants (3 disease-causing).
Diseases related to Uruguay Faciocardiomusculoskeletal syndrome
- X-linked myopathy with postural muscle atrophy, also linked to FHL1
- Emery-Dreifuss muscular dystrophy, also linked to FHL1
- Myopathy, also linked to FHL1
- Myopathy, reducing body, X-linked, early-onset, severe, also linked to FHL1
- Centronuclear myopathy, also linked to FHL1
- Myopathy, reducing body, X-linked, childhood-onset, also linked to FHL1
- X-linked scapuloperoneal muscular dystrophy, also linked to FHL1
Frequently asked questions
Which genes are linked to Uruguay Faciocardiomusculoskeletal syndrome?
In CATVariant, Uruguay Faciocardiomusculoskeletal syndrome is linked to 1 analyzed protein: FHL1 (Four and a half LIM domains protein 1).
How many genetic variants are linked to Uruguay Faciocardiomusculoskeletal syndrome?
11 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Uruguay Faciocardiomusculoskeletal 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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