IEMbase 0633: VPS13B-related Cohen syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 633 |
| Nosology | 19.5.11.01 |
| Gene | VPS13B |
| External IDs | OMIM:216550; ORPHA:193 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; GM3_Synthase_Deficiency.yaml is a false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents VPS13B-related Pepper syndrome / Cohen syndrome / VPS13B-CDG as an autosomal recessive disorder with unknown treatability and no treatment rows.
Biochemical rows include increased serum agalactosotransferrin and asialotransferrin in adolescence/adulthood with normal serum transferrin. Clinical and characteristic rows include intellectual disability, myopia, optional neutropenia, chorioretinal degeneration, joint laxity, microcephaly, and obesity.
DisMech phenotype coverage
No exact VPS13B/Cohen syndrome entry was identified. GM3_Synthase_Deficiency.yaml
is a false candidate driven by overlapping neurodevelopmental and retinal
features; GM3 synthase deficiency is ST3GAL5-related ganglioside biosynthesis
disease, not VPS13B/Cohen syndrome.
Concordance and completeness
Judgement: true local gap.
The G2P triage table also identifies VPS13B-related Cohen syndrome as lacking a DisMech disease anchor, which is consistent with the generated unmapped result.
Curation actions
- Do not map to GM3 synthase deficiency.
- Curate VPS13B/Cohen syndrome as a separate disorder if selected.
- Preserve transferrin glycoform rows, myopia, chorioretinal degeneration, neutropenia, intellectual disability, microcephaly, obesity, and joint-laxity prompts.