Muscular dystrophy-dystroglycanopathy type B5: genes and variants
Muscular dystrophy-dystroglycanopathy type B5 is linked to 1 analyzed protein (FKRP). 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 Muscular dystrophy-dystroglycanopathy type B5
FKRP: Ribitol 5-phosphate transferase FKRP
It is required for proper glycosylation of alpha-dystroglycan, enabling muscle fibers and other cells to attach effectively to extracellular matrix. Biallelic pathogenic variants cause dystroglycanopathies ranging from limb-girdle muscular dystrophy to severe congenital muscular dystrophy with brain or eye involvement.
6 disease-causing and 36 uncertain variants in FKRP are linked to Muscular dystrophy-dystroglycanopathy type B5.
Known disease-causing variants in Muscular dystrophy-dystroglycanopathy type B5
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FKRP P89L | 89 | Lumenal | Disease-causing (★★) |
| FKRP P448L | 448 | Lumenal | Disease-causing (★★) |
| FKRP A455D | 455 | Lumenal | Disease-causing (★★) |
| FKRP Y182C | 182 | Lumenal | Disease-causing (★★) |
| FKRP P89S | 89 | Lumenal | Disease-causing (★) |
| FKRP C168Y | 168 | Lumenal | Disease-causing (★) |
Same protein, different disease
- Walker-Warburg congenital muscular dystrophy is also caused by FKRP variants; they fall mostly in different places as the Muscular dystrophy-dystroglycanopathy type B5 variants (44 disease-causing).
- Autosomal recessive limb-girdle muscular dystrophy is also caused by FKRP variants; they fall mostly in different places as the Muscular dystrophy-dystroglycanopathy type B5 variants (20 disease-causing).
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 is also caused by FKRP variants; they fall mostly in different places as the Muscular dystrophy-dystroglycanopathy type B5 variants (13 disease-causing).
Diseases related to Muscular dystrophy-dystroglycanopathy type B5
- Autosomal recessive limb-girdle muscular dystrophy, also linked to FKRP
- Walker-Warburg congenital muscular dystrophy, also linked to FKRP
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, also linked to FKRP
- Muscular dystrophy, also linked to FKRP
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, also linked to FKRP
Frequently asked questions
Which genes are linked to Muscular dystrophy-dystroglycanopathy type B5?
In CATVariant, Muscular dystrophy-dystroglycanopathy type B5 is linked to 1 analyzed protein: FKRP (Ribitol 5-phosphate transferase FKRP).
How many genetic variants are linked to Muscular dystrophy-dystroglycanopathy type B5?
60 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 Muscular dystrophy-dystroglycanopathy type B5 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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