IEMbase 0632: TRAPPC11-related limb-girdle muscular dystrophy 2S
Scope
| Field | Value |
|---|---|
| IEMbase ID | 632 |
| Nosology | 19.6.1.01 |
| Gene | TRAPPC11 |
| External IDs | OMIM:615356; ORPHA:369847 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; Limb-Girdle_Muscular_Dystrophy_Autosomal_Dominant.yaml is a false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TRAPPC11-related muscular dystrophy, limb-girdle, type 2S / TRAPPC11-CDG as an autosomal recessive disorder with unknown treatability and no treatment rows.
The biochemical row is increased plasma creatine kinase in adolescence and adulthood. Clinical rows include myopathy, developmental delay, optional ataxia, optional cerebral atrophy on MRI, optional intrahepatic cholestasis, optional degenerative hip dysplasia, dysmorphism, intellectual disability, microcephaly, muscle pain, camptodactyly, high foot arches, and craniofacial features. Characteristic rows include muscle weakness and scoliosis.
DisMech phenotype coverage
No exact TRAPPC11/LGMD2S entry was identified.
Limb-Girdle_Muscular_Dystrophy_Autosomal_Dominant.yaml is not an exact target:
it models dominant LGMD subtypes, while IEMbase 0632 is autosomal recessive
TRAPPC11-related LGMD2S with glycosylation/Golgi-trafficking context and
multisystem features.
Concordance and completeness
Judgement: true local gap.
The local dominant LGMD entry provides broad limb-girdle weakness context only; it does not cover the TRAPPC11 gene, recessive inheritance, cholestasis, neurodevelopmental, glycosylation, or skeletal prompts in the IEMbase record.
Curation actions
- Do not map to autosomal dominant LGMD.
- Curate TRAPPC11/LGMD2S as a separate recessive muscular-dystrophy/CDG entity if selected.
- Preserve CK, myopathy, limb-girdle weakness, scoliosis, cholestasis, developmental delay, cerebral atrophy, hip dysplasia, microcephaly, ataxia, and facial/skeletal prompts.