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IEMbase 0606: ALG14-related congenital myasthenic syndrome 15

Scope

Field Value
IEMbase ID 606
Nosology 18.1.06.01
Gene ALG14
External IDs OMIM:616227; OMIM:612866; ORPHA:353327
Generated mapping UNMAPPED; best candidate Congenital_Myasthenic_Syndrome.yaml
Candidate DisMech targets Congenital_Myasthenic_Syndrome.yaml#Glycosylation (partial)
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents ALG14-related congenital myasthenic syndrome without tubular aggregates, also labelled ALG14-CDG, congenital myasthenic syndrome 15, and CDG-Ih. The record is autosomal recessive, classified under N-glycosylation disorders, has unknown treatability, and has no treatment rows.

Biochemical rows include normal creatine kinase and possible serum sialotransferrin type 1 pattern. Clinical rows include congenital myasthenic syndrome, contractures, hypotonia, epilepsy, developmental delay, behavioral disorder, and fetal hydrops.

DisMech phenotype coverage

Congenital_Myasthenic_Syndrome.yaml is valid broad context but not exact ALG14 disease coverage. Its glycosylation-related CMS subtype lists ALG14 among N-linked glycosylation pathway genes that can impair neuromuscular-junction glycoproteins, and it models the shared terminal mechanism of impaired neuromuscular junction transmission. However, the local genetic section does not yet include an ALG14-specific gene block, and the entry does not model ALG14-CDG/CDG-Ih, fetal hydrops, contractures, epilepsy, or the possible type 1 sialotransferrin signal as an ALG14-specific subtype.

No standalone ALG14-CDG / CMS15 target was identified.

Concordance and completeness

Judgement: false negative for broad CMS context, but exact ALG14-CDG remains a local gap.

The local CMS umbrella captures the disease class and glycosylation-CMS terminal mechanism, so it should be used for context. It does not yet satisfy the IEMbase record's gene-specific disease identity or multisystem CDG phenotype.

Curation actions

  • Use Congenital_Myasthenic_Syndrome.yaml#Glycosylation as partial context only.
  • Create or identify an exact ALG14-CDG / congenital myasthenic syndrome 15 target or subtype before import.
  • Preserve normal CK, possible type 1 sialotransferrin, fetal hydrops, contractures, hypotonia, epilepsy, developmental delay, behavioral disorder, and CMS-without-tubular-aggregates prompts.