IEMbase 0333: MOGS/GCS1-related glucosidase 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 333 |
| Nosology | 18.1.2.01 |
| Gene | MOGS |
| External IDs | OMIM:606056 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Reject Gaucher_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents GCS1-CDG/CDG-IIb, caused by MOGS/glucosidase I deficiency. Characteristic rows include alopecia areata, high-arched palate, abnormal brain evoked response audiometry, burst-suppression EEG, epilepsy, facial dysmorphism, overlapping fingers, hepatomegaly, hypokinesia, hypoplastic labia majora, hypotonia, long eyelashes, myelinating neuropathy, respiratory failure, short palpebral fissures, and abnormal visual evoked potentials. Additional clinical rows include apnea, broad nose, developmental delay, gastric tube feeding, prominent occiput, retrognathia, and short palpebral fissures.
The biochemical rows are sparse but distinctive: abnormal serum sialotransferrins, increased urinary tetraglucoside, and decreased immunoglobulins. No treatment rows are present.
DisMech phenotype coverage
The Gaucher disease candidate is a lexical false positive around glucosidase terminology. Gaucher disease is a lysosomal storage disease caused by GBA1 beta-glucocerebrosidase deficiency, with glucosylceramide/glucosylsphingosine storage, hepatosplenomegaly, cytopenias, bone disease, and ERT/SRT treatment logic. It is not MOGS/glucosidase I deficiency and does not cover CDG-IIb.
Other local glycosylation entries and the CDG module provide family context, but no standalone MOGS/GCS1-CDG entry exists.
Concordance and completeness
Judgement: true local disease gap; reject the Gaucher candidate.
IEMbase points to a distinct type II CDG with neurologic, respiratory, craniofacial, immunologic, sensory-evoked-potential, and tetraglucoside signals. The shared words "glucosidase" and "hepatomegaly" are not enough to map this record to Gaucher disease.
Curation actions
- Add a standalone MOGS/GCS1-CDG target before treating this record as mapped.
- Do not map this record to Gaucher disease or other lysosomal glucosidase disorders.
- Preserve urinary tetraglucoside, immunoglobulins, burst-suppression EEG, evoked-potential abnormalities, respiratory failure/apnea, and myelinating neuropathy as future-curation prompts.