Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome: genes and variants
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome is linked to 1 analyzed protein (LMNA). 2 DNA variants are known to cause it; 44 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 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
LMNA: Prelamin-A/C
The gene product produces lamins A and C, structural proteins that form the nuclear lamina beneath the inner nuclear membrane. Lamins help maintain nuclear shape and organize chromatin, and LMNA variants are associated with muscular dystrophy, cardiomyopathy, lipodystrophy, and premature-aging syndromes.
2 disease-causing and 44 uncertain variants in LMNA are linked to Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome.
Known disease-causing variants in Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LMNA A57P | 57 | IF rod | Disease-causing |
| LMNA L59R | 59 | IF rod | Disease-causing |
Same protein, different disease
- Charcot-Marie-Tooth disease is also caused by LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome variants (130 disease-causing).
- Dilated cardiomyopathy is also caused by LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome variants (21 disease-causing).
- Familial partial lipodystrophy, Dunnigan type is also caused by LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome variants (13 disease-causing).
- Emery-Dreifuss muscular dystrophy is also caused by LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome variants (12 disease-causing).
- Congenital muscular dystrophy due to LMNA mutation is also caused by LMNA variants; they fall mostly in different places as the Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome variants (11 disease-causing).
Diseases related to Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Charcot-Marie-Tooth disease, also linked to LMNA
- Dilated cardiomyopathy, also linked to LMNA
- Bethlem myopathy, also linked to LMNA
- Primary dilated cardiomyopathy, also linked to LMNA
- Arrhythmogenic right ventricular dysplasia, also linked to LMNA
- Familial partial lipodystrophy, Dunnigan type, also linked to LMNA
- Emery-Dreifuss muscular dystrophy, also linked to LMNA
- Congenital muscular dystrophy due to LMNA mutation, also linked to LMNA
- Muscular dystrophy, also linked to LMNA
- Primary familial dilated cardiomyopathy, also linked to LMNA
- Hutchinson-Gilford syndrome, also linked to LMNA
- Familial cardiomyopathy, also linked to LMNA
Frequently asked questions
Which genes are linked to Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome?
In CATVariant, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome is linked to 1 analyzed protein: LMNA (Prelamin-A/C).
How many genetic variants are linked to Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome?
47 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 44 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dilated cardiomyopathy-hypergonadotropic hypogonadism 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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