IEMbase 0622: PCYT1A-related retinoskeletal phosphocholine cytidylyltransferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 622 |
| Nosology | 14.5.01.06 |
| Gene | PCYT1A |
| External IDs | OMIM:608940; ORPHA:85167 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; Spondyloepiphyseal_Dysplasia_Congenita.yaml is a weak false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents the PCYT1A-related phosphocholine cytidylyltransferase 1A deficiency retinoskeletal phenotype, also named spondylometaphyseal dysplasia with cone-rod dystrophy / SMDCRD, as an autosomal recessive disorder with unknown treatability and no treatment rows.
The biochemical rows include decreased serum cholesterol, decreased plasma HDL cholesterol, and decreased serum triglycerides across age bands. Clinical and characteristic rows include retinopathy, short stature, spondyloepimetaphyseal dysplasia, cone-rod dystrophy, femoral bowing, and fractures.
DisMech phenotype coverage
No exact local PCYT1A or SMDCRD entry was identified.
Spondyloepiphyseal_Dysplasia_Congenita.yaml is a skeletal-dysplasia
name/phenotype neighbor, not a PCYT1A phosphatidylcholine-biosynthesis disorder
with cone-rod dystrophy and hypolipidemia.
Concordance and completeness
Judgement: true local gap.
The later IEMbase PCYT1A lipodystrophy phenotype should be reviewed alongside this retinoskeletal phenotype, but this record is a distinct retinoskeletal presentation and should not be collapsed into an unrelated skeletal dysplasia.
Curation actions
- Do not map to
Spondyloepiphyseal_Dysplasia_Congenita.yaml. - Source-review PCYT1A phenotype splitting across retinoskeletal and lipodystrophy presentations.
- Preserve hypocholesterolemia/low HDL/low triglyceride, cone-rod dystrophy, retinopathy, short stature, spondyloepimetaphyseal dysplasia, femoral bowing, and fracture prompts.