Mandibuloacral dysplasia with type A lipodystrophy: genes and variants

Genes linked to Mandibuloacral dysplasia with type A lipodystrophy

• 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.

  4 disease-causing and 27 uncertain variants in LMNA are linked to Mandibuloacral dysplasia with type A lipodystrophy.

Known disease-causing variants in Mandibuloacral dysplasia with type A lipodystrophy

Same protein, different disease

• Charcot-Marie-Tooth disease is also caused by LMNA variants; they fall mostly in different places as the Mandibuloacral dysplasia with type A lipodystrophy variants (130 disease-causing).
• Dilated cardiomyopathy is also caused by LMNA variants; they fall mostly in different places as the Mandibuloacral dysplasia with type A lipodystrophy variants (21 disease-causing).
• Familial partial lipodystrophy, Dunnigan type is also caused by LMNA variants; they fall mostly in different places as the Mandibuloacral dysplasia with type A lipodystrophy variants (13 disease-causing).
• Emery-Dreifuss muscular dystrophy is also caused by LMNA variants; they fall mostly in different places as the Mandibuloacral dysplasia with type A lipodystrophy 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 Mandibuloacral dysplasia with type A lipodystrophy variants (11 disease-causing).

Diseases related to Mandibuloacral dysplasia with type A lipodystrophy

• 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 Mandibuloacral dysplasia with type A lipodystrophy?

In CATVariant, Mandibuloacral dysplasia with type A lipodystrophy is linked to 1 analyzed protein: LMNA (Prelamin-A/C).

How many genetic variants are linked to Mandibuloacral dysplasia with type A lipodystrophy?

35 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 27 are of uncertain significance or have conflicting reports.

Which uncertain variants in Mandibuloacral dysplasia with type A lipodystrophy 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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