IEMbase 0645: FKRP-related muscular dystrophy-dystroglycanopathy type A
Scope
| Field | Value |
|---|---|
| IEMbase ID | 645 |
| Nosology | 18.2.09.02 |
| Gene | FKRP |
| External IDs | OMIM:613153; ORPHA:899 |
| Generated mapping | UNMAPPED; weak candidate Dystroglycanopathy.yaml |
| Candidate DisMech targets | Dystroglycanopathy.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this row as autosomal recessive FKRP-CDG type A / Walker-Warburg syndrome: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies.
Biochemical rows include markedly increased plasma creatine kinase, normal serum sialotransferrins, and abnormal matriglycan-specific antibody signal. Clinical rows include agyria, pachygyria, corpus callosum abnormalities, Dandy-Walker malformation, brainstem hypoplasia, cerebellar abnormalities, cobblestone lissencephaly, hydrocephalus, muscle-eye-brain disease, Walker-Warburg syndrome, hypotonia, muscular dystrophy, calf pseudohypertrophy, cardiomyopathy, psychomotor regression, cataract, coloboma, corneal clouding, retinopathy, roving eye movements, and microphthalmia.
DisMech phenotype coverage
Dystroglycanopathy.yaml includes MDDG5 (FKRP), describing FKRP as the second
ribitol-phosphate transferase and noting a wide severity range from
Walker-Warburg syndrome to limb-girdle muscular dystrophy. It also captures the
type A severity subtype, alpha-dystroglycan/matriglycan mechanism, elevated CK,
muscular dystrophy, cobblestone lissencephaly, retinal dysplasia, intellectual
disability, seizures, hydrocephalus, neonatal hypotonia, and FKRP-specific
therapeutic context.
The local entry is less explicit for FKRP type A-specific Dandy-Walker malformation, coloboma, corneal clouding, roving eye movements, psychomotor regression, and corpus callosum abnormalities.
Concordance and completeness
Judgement: broad local coverage, not an unmapped disease-family gap.
The generated weak candidate is the correct local anchor. DisMech captures the mechanism and major type A phenotype axis, but does not yet have an explicit FKRP type A cross-product subtype with the full IEMbase ocular and brain malformation list.
Curation actions
- Map broadly to
Dystroglycanopathy.yaml. - If exact row coverage is needed, annotate FKRP type A / MDDG A5 under the existing FKRP gene subtype.
- Preserve CK, normal sialotransferrins, matriglycan antibody, Walker-Warburg / muscle-eye-brain, corpus callosum, Dandy-Walker, ocular, cardiac, regression, hypotonia, and muscular dystrophy prompts.