IEMbase 0341: SLC35C1-related GDP-fucose transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 341 |
| Nosology | 18.4.04.01 |
| Gene | SLC35C1 |
| External IDs | OMIM:266265 |
| Generated mapping | UNMAPPED; low-score candidate SLC35A2-CDG.yaml |
| Candidate DisMech targets | Reject SLC35A2-CDG.yaml; no SLC35C1-CDG/LAD-II target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SLC35C1-CDG, a GDP-fucose transporter deficiency also associated with the leukocyte adhesion deficiency type II phenotype. Characteristic rows include Bombay blood phenotype, decreased body height, neutrophilia, periodontitis, psychomotor delay, inability to form pus, and recurrent infections. Additional clinical rows include facial dysmorphism, flat oval face, short nose, short stature, and underdeveloped nasal bridge.
The biochemical rows include B-cell and T-cell function, serum N-glycans and sialotransferrins, neutrophil motility and rolling, and sialyl-Lewis on neutrophils. IEMbase records fucose as a nutritional treatment row with decreased neutrophils and immune/neurodevelopmental effects.
DisMech phenotype coverage
The generated SLC35A2-CDG candidate is a nucleotide-sugar-transporter neighbor, not a valid disease target. SLC35A2 transports UDP-galactose and has a neurodevelopmental/epilepsy-dominant phenotype with hypogalactosylation. SLC35C1 transports GDP-fucose and produces a fucosylation/leukocyte-adhesion phenotype with neutrophilia, recurrent infections, absent pus formation, sialyl-Lewis abnormalities, and potential fucose responsiveness.
Local fucose-related lysosomal storage entries, such as fucosidosis, are also not valid targets because they model degradation/storage of fucose-containing substrates rather than GDP-fucose transport.
Concordance and completeness
Judgement: true local disease gap; reject SLC35A2-CDG and fucosidosis-family neighbors.
The IEMbase record has a distinctive immunologic cell-adhesion profile. Shared CDG/transporter/fucose words are insufficient for a disease mapping without an SLC35C1-specific local target.
Curation actions
- Add a standalone SLC35C1-CDG / leukocyte adhesion deficiency type II target before treating this record as mapped.
- Do not map to SLC35A2-CDG or fucosidosis.
- Preserve Bombay blood phenotype, neutrophilia, recurrent infections, inability to form pus, periodontitis, sialyl-Lewis/neutrophil rolling rows, B/T-cell function, dysmorphism, and fucose therapy as future-curation prompts.