Skip to content

IEMbase 0647: FKRP-related muscular dystrophy-dystroglycanopathy type C

Scope

Field Value
IEMbase ID 647
Nosology 18.2.09.04
Gene FKRP
External IDs OMIM:606596; ORPHA:34515
Generated mapping UNMAPPED; weak candidate Dystroglycanopathy.yaml
Candidate DisMech targets Dystroglycanopathy.yaml; Autosomal_Recessive_Limb-Girdle_Muscular_Dystrophy.yaml#LGMDR9
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this row as FKRP-CDG type C, the limb-girdle muscular dystrophy end of the FKRP dystroglycanopathy spectrum.

Biochemical rows include markedly increased plasma creatine kinase and normal serum sialotransferrins. Clinical rows include obligate limb-girdle muscular dystrophy, calf muscle hypertrophy becoming more prominent in adolescence and adulthood, optional cardiomyopathy, optional myoglobinuria, optional respiratory failure after infancy, optional tongue hypertrophy after infancy, and optional spinal abnormalities.

DisMech phenotype coverage

Dystroglycanopathy.yaml includes FKRP (MDDG5) and type C dystroglycanopathy, with elevated CK, muscular dystrophy, proximal weakness, cardiac/respiratory complications in the spectrum, and FKRP-specific treatment context.

Autosomal_Recessive_Limb-Girdle_Muscular_Dystrophy.yaml also has a specific LGMDR9 subtype for FKRP-related dystroglycanopathy / LGMD2I. That entry captures biallelic FKRP variants, limb-girdle muscle weakness, elevated CK, cardiomyopathy, respiratory insufficiency, and calf hypertrophy. It does not clearly preserve myoglobinuria or tongue hypertrophy.

Concordance and completeness

Judgement: covered locally, despite generated UNMAPPED status.

This is the strongest local match in the batch: the disease is represented by both the dystroglycanopathy spectrum entry and an FKRP-specific recessive LGMD subtype. Remaining incompleteness is phenotype granularity rather than a missing anchor.

Curation actions

  • Treat as covered by Dystroglycanopathy.yaml and Autosomal_Recessive_Limb-Girdle_Muscular_Dystrophy.yaml#LGMDR9.
  • Consider updating the mapping rules to recognize the FKRP/LGMD2I target.
  • Preserve CK, normal sialotransferrins, limb-girdle weakness, calf hypertrophy, cardiomyopathy, respiratory failure, spinal abnormalities, myoglobinuria, and tongue hypertrophy prompts.