IEMbase 0611: MAN1B1-related congenital disorder of glycosylation
Scope
| Field | Value |
|---|---|
| IEMbase ID | 611 |
| Nosology | 18.1.23.01 |
| Gene | MAN1B1 |
| External IDs | OMIM:614202; OMIM:604346 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; DYRK1A_Syndrome.yaml is a lexical false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MAN1B1-CDG / autosomal recessive intellectual disability 15 as an autosomal recessive CDG-II disorder with unknown treatability and no treatment rows. Biochemical rows include increased trisialotransferrin, decreased tetrasialotransferrin, and normal-to-increased plasma transaminases.
Clinical and characteristic rows emphasize intellectual disability, delayed or absent speech, neonatal-to-childhood hypotonia, optional strabismus, optional adolescent/adult seizures, behavioral disorder, flat oval face, bulbous nose, thin upper lip, optional macrocephaly, optional inverted nipples, and obesity becoming more evident in adulthood.
DisMech phenotype coverage
No exact MAN1B1-CDG target was identified locally. The generated best candidate
outside the mapped fields, DYRK1A_Syndrome.yaml, is a nonspecific
intellectual-disability/facial-feature overlap and should not be treated as
metabolic coverage.
Concordance and completeness
Judgement: true local gap.
MAN1B1 is a distinct glycoprotein quality-control / mannosidase pathway disease and should not be imported into a general neurodevelopmental syndrome entry.
Curation actions
- Create or identify an exact MAN1B1-CDG target before import.
- Reject
DYRK1A_Syndrome.yamland other generic intellectual-disability matches as exact coverage. - Preserve transferrin pattern, transaminase, speech, behavior, obesity, hypotonia, seizures, strabismus, and characteristic facial prompts.