IEMbase 0610: SSR4-related congenital disorder of glycosylation
Scope
| Field | Value |
|---|---|
| IEMbase ID | 610 |
| Nosology | 18.1.19.01 |
| Gene | SSR4 |
| External IDs | OMIM:300934; ORPHA:370927 |
| Generated mapping | CANDIDATE; ALG12_Congenital_Disorder_of_Glycosylation.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SSR4-CDG as an X-linked congenital disorder of glycosylation with unknown treatability and no treatment rows. Biochemical rows include increased serum disialotransferrin and decreased serum tetrasialotransferrin in the neonatal period.
Clinical rows capture developmental delay, intellectual disability, failure to thrive, hypotonia, abnormal subcutaneous fat distribution, optional seizures, and optional skeletal malformations. Characteristic rows include facial dysmorphism, microcephaly, micrognathia, clinodactyly, strabismus, and optional hypospadias.
DisMech phenotype coverage
ALG12_Congenital_Disorder_of_Glycosylation.yaml is a false-positive CDG-class
candidate. The local file models biallelic ALG12 mannosyltransferase deficiency
and type I CDG biology, not X-linked SSR4/signal-sequence receptor subunit 4
disease.
No exact SSR4-CDG target was identified locally.
Concordance and completeness
Judgement: true local gap; reject ALG12-CDG as exact coverage.
The IEMbase record should seed a separate SSR4-CDG work item, with ALG12-CDG kept only as neighboring CDG context.
Curation actions
- Create or identify an exact SSR4-CDG target before import.
- Reject
ALG12_Congenital_Disorder_of_Glycosylation.yamlas an exact mapping. - Preserve transferrin, X-linked inheritance, abnormal fat distribution, neurodevelopmental, dysmorphic, strabismus, skeletal, and genital prompts.