IEMbase 0208: BCS1L-related GRACILE syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 208 |
| Nosology | 7.3.01.02 |
| Gene | BCS1L |
| External IDs | OMIM:603358; ORPHA:53693 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | CALFAN_Syndrome.yaml is a false-positive clinical-neighbor candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as BCS1L-related GRACILE syndrome, with alternate labels Fellman disease, Bjoernstad syndrome, and the acronym expansion growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. Treatability is marked unknown. The Bjoernstad label appears to reflect BCS1L spectrum lumping in IEMbase rather than a strict GRACILE synonym; this likely explains the pili torti and sensorineural deafness rows.
The biochemical rows include low-to-normal glucose, increased serum iron, and increased plasma lactate. Characteristic clinical rows include sensorineural deafness, early death, hemosiderosis, intrauterine growth retardation, lactic acidosis, renal Fanconi syndrome, and proximal renal tubulopathy. Additional rows include intrahepatic cholestasis, developmental delay, hypotonia, and pili torti. No treatment rows are listed.
DisMech phenotype coverage
No local DisMech entry covers BCS1L-related GRACILE syndrome. The generated best
candidate, CALFAN_Syndrome.yaml, is not a valid target: CALFAN is an
SCYL1-related Golgi trafficking disorder with recurrent low-GGT cholestasis,
acute liver failure, neurodegeneration, and growth/skeletal findings. It shares
neonatal/infantile liver and neurologic themes but not the BCS1L/complex III
mitochondrial mechanism, lactic acidosis, iron overload, Fanconi/proximal
tubulopathy, or GRACILE identity.
Concordance and completeness
Judgement: true local disease gap; CALFAN is a false-positive clinical neighbor.
IEMbase gives a distinctive BCS1L mitochondrial disease profile combining growth restriction, aminoaciduria/Fanconi tubulopathy, cholestasis, iron overload/hemosiderosis, lactic acidosis, sensorineural deafness, hypotonia, pili torti, and early death. DisMech lacks a corresponding BCS1L/GRACILE entry.
Curation actions
- Do not map this record to
CALFAN_Syndrome.yaml. - Consider a future BCS1L/GRACILE syndrome entry under mitochondrial respiratory chain complex III assembly disorders.
- Seed that future entry with plasma lactate elevation, serum iron overload, renal Fanconi/proximal tubulopathy, intrauterine growth retardation, cholestasis, sensorineural deafness, hypotonia, pili torti, and early death.