IEMbase 0196: SC5D-related lathosterolosis
Scope
| Field | Value |
|---|---|
| IEMbase ID | 196 |
| Nosology | 14.7.12.01 |
| Gene | SC5D |
| External IDs | OMIM:607330; ORPHA:46059 |
| Generated mapping | UNMAPPED; best candidate Cerebrotendinous_Xanthomatosis.yaml |
| Candidate DisMech targets | None valid; CTX candidate is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SC5D-related lathosterolosis, with alternate labels sterol C5-desaturase deficiency and SC5D. Treatability is marked yes.
The biochemical row reports increased plasma lathosterol in neonatal, infancy, and childhood periods. Characteristic clinical rows include broad alveolar ridges, cataracts, growth retardation, hypotonia, microcephaly, micrognathia, and toe syndactyly affecting 2-3 or 2-4 toes. Additional rows include anteverted nares, bitemporal narrowing, cleft palate, clubfoot, corneal clouding, hematuria, hypospadias, intellectual disability, postaxial polydactyly, and ptosis. No treatment rows are listed despite the treatability flag.
DisMech phenotype coverage
No valid local SC5D/lathosterolosis target was found. The generated best
candidate, Cerebrotendinous_Xanthomatosis.yaml, is a CYP27A1 bile acid
synthesis/sterol 27-hydroxylase disease and should not be used for SC5D sterol
C5-desaturase deficiency.
Concordance and completeness
Judgement: true local disease gap; CTX candidate is a pathway-neighbor false positive.
IEMbase supplies a specific lathosterolosis profile with elevated lathosterol, SLOS-like craniofacial and limb findings, cataracts/corneal clouding, growth and neurodevelopmental involvement, genital/urinary rows, and postaxial polydactyly. Local CTX coverage is mechanistically and clinically different.
Curation actions
- Do not map this record to cerebrotendinous xanthomatosis.
- Add a future SC5D/lathosterolosis entry if this sterol-biosynthesis disorder is in scope.
- Seed that entry with elevated plasma lathosterol, cataracts, corneal clouding, microcephaly, micrognathia, broad alveolar ridges, toe syndactyly, postaxial polydactyly, cleft palate, hypospadias, hematuria, and intellectual disability.