IEMbase 0351: SLC35D1-related Schneckenbecken dysplasia
Scope
| Field | Value |
|---|---|
| IEMbase ID | 351 |
| Nosology | 18.4.05.02 |
| Gene | SLC35D1 |
| External IDs | OMIM:269250; ORPHA:3144 |
| Generated mapping | MAPPED; Schneckenbecken_Dysplasia.yaml |
| Candidate DisMech targets | Schneckenbecken_Dysplasia.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SLC35D1-CDG/Schneckenbecken dysplasia, an autosomal recessive UDP-glucuronic acid and UDP-N-acetylgalactosamine transporter deficiency. Characteristic rows include abdominal distension, advanced ossification, clubfoot, dwarfism, hydrops, nasal hypoplasia, platyspondyly, shortening of long bones, normal sialotransferrins, small ilia with snail-like appearance, and thoracic hypoplasia. The additional clinical row is perinatal lethality. No treatment rows are present.
DisMech phenotype coverage
The generated mapping is correct. DisMech has a dedicated Schneckenbecken Dysplasia entry with SLC35D1 loss, endoplasmic-reticulum nucleotide-sugar transport failure, impaired chondroitin sulfate biosynthesis, and perinatally lethal skeletal dysplasia. It also notes a rare INPPL1 locus and a milder hypomorphic SLC35D1 spectrum.
Local phenotype coverage includes severe platyspondyly, hypoplastic ilia with snail-like appearance, severe micromelia, dumbbell-shaped long bones, short ribs, bell-shaped thorax, advanced tarsal ossification, brachydactyly, short neck, flat midface, increased nuchal thickness, polyhydramnios, hydrops fetalis, protuberant abdomen, pulmonary hypoplasia, perinatal death, mesomelia, and genu valgum.
Concordance and completeness
Judgement: correct mapped target with high concordance.
The resources agree on SLC35D1 identity, autosomal recessive inheritance, Schneckenbecken dysplasia identity, shortened long bones/micromelia, platyspondyly, thoracic hypoplasia/short ribs, hydrops, snail-like ilia, advanced ossification, clubfoot or distal skeletal involvement, abdominal distension/protuberant abdomen, and perinatal lethality.
Curation actions
- Keep the mapping to
Schneckenbecken_Dysplasia.yaml. - Use IEMbase as a future prompt for explicit CDG/nucleotide-sugar-transporter framing and the normal sialotransferrin row.
- Retain local chondroitin-sulfate/proteoglycan mechanism and radiographic detail as the stronger DisMech coverage.