IEMbase 0359: B3GLCT-related Peters plus syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 359 |
| Nosology | 18.2.03.02 |
| Gene | B3GLCT |
| External IDs | OMIM:261540; ORPHA:709 |
| Generated mapping | UNMAPPED; low candidate Gaucher_Disease.yaml |
| Candidate DisMech targets | No exact local target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents B3GALTL-CDG/Peters plus syndrome. The record uses the legacy B3GALTL label and abbreviation, while the gene field uses the current symbol B3GLCT. It is an autosomal recessive O-fucose-specific beta-1,3-glucosylation disorder.
Characteristic rows include anterior eye chamber anomalies, cryptorchidism, facial dysmorphism, hearing loss, hydrocephalus, and normal sialotransferrins. Additional clinical rows include anteriorly placed anus, brachydactyly, cardiac malformations, cleft lip, cleft palate, gastroesophageal reflux, growth retardation, hydronephrosis, hydroureter, long filtrum, malrotation, prominent forehead, psychomotor delay, and short palpebral fissures. The only biochemical row is sialotransferrins. No treatment rows are present.
DisMech phenotype coverage
The low Gaucher disease candidate is a false lexical neighbor and should be rejected. Gaucher disease is a lysosomal glucocerebrosidase disorder and does not cover B3GLCT, Peters plus syndrome, anterior chamber dysgenesis, or O-fucose glucosylation.
No exact DisMech disease file for B3GLCT/Peters plus syndrome was identified. Other local anterior-segment or Peters anomaly contexts may provide phenotype family context only; they should not be treated as a gene-level or disease-level mapping for this IEMbase record.
Concordance and completeness
Judgement: true local gap; reject the generated Gaucher disease candidate.
IEMbase supplies a coherent Peters plus syndrome profile: B3GLCT identity, autosomal recessive inheritance, anterior eye chamber anomalies, short-limb or brachydactyly signal, craniofacial clefting/dysmorphism, growth and developmental involvement, genitourinary/GI malformations, and normal sialotransferrins.
Curation actions
- Do not map this record to
Gaucher_Disease.yaml. - Create or prioritize a future B3GLCT/Peters plus syndrome target if this disease enters active DisMech curation.
- Preserve both B3GALTL legacy labeling and B3GLCT current-symbol identity when curating the future entry.
- Verify the source spelling "long filtrum" before importing that row; the intended clinical term may be "long philtrum".