IEMbase 0550: SLC33A1-related acetyl-CoA transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 550 |
| Nosology | 22.1.05.01 |
| Gene | SLC33A1 |
| External IDs | OMIM:614482; ORPHA:300313 |
| Generated mapping | MAPPED; Huppke-Brendel_syndrome.yaml |
| Candidate DisMech targets | Huppke-Brendel_syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SLC33A1-related acetyl-CoA transporter deficiency, with alternate labels congenital cataracts, hearing loss, low serum copper and ceruloplasmin, Huppke-Brendel syndrome, and CCHLND. The record is autosomal recessive, and treatability is unknown. No treatment rows are listed.
The biochemical signal is decreased serum ceruloplasmin and decreased serum copper. Clinical rows include congenital cataract, hearing loss, hypomyelination on MRI, axial muscular hypotonia, cerebellar atrophy, and cerebral atrophy.
DisMech phenotype coverage
Huppke-Brendel_syndrome.yaml is the correct local target. The local entry
models biallelic SLC33A1 variants causing AT-1 acetyl-CoA transporter
deficiency in the endoplasmic reticulum, defective secretory-pathway
acetylation, reduced ceruloplasmin secretion, secondary low serum copper, and a
severe neurodevelopmental syndrome with congenital cataracts, hearing loss,
developmental delay, cerebellar hypoplasia, and hypomyelination.
The local file also distinguishes the low copper/ceruloplasmin pattern from primary copper deficiency and Wilson disease mimicry.
Concordance and completeness
Judgement: correct high-concordance mapping to
Huppke-Brendel_syndrome.yaml.
IEMbase and DisMech agree on SLC33A1 identity, recessive inheritance, AT-1 / acetyl-CoA transporter scope, low serum copper, low ceruloplasmin, congenital cataracts, hearing loss, hypomyelination, and hypotonia. DisMech is stronger for the secretory-pathway acetylation and ceruloplasmin-secretion mechanism.
IEMbase adds compact age-patterned prompts for cerebellar and cerebral atrophy and specifies axial muscular hypotonia.
Curation actions
- Keep this record mapped to
Huppke-Brendel_syndrome.yaml. - Consider adding the IEMbase cerebral/cerebellar atrophy and axial-hypotonia wording if supported by existing evidence.
- Preserve low serum copper as secondary to low ceruloplasmin, not as primary copper deficiency.