GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome

Preferred Label : GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome;

ICD-11 definition : GRACILE syndrome is characterised by foetal growth retardation (G), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). The syndrome affects principally the Finnish population, in which the incidence is approximately 1 in 47 000. It is transmitted in an autosomal recessive manner. The causative gene has been identified as BCS1L (chromosome 2q33-37), which encodes a mitochondrial inner membrane protein.;

ICD-11 synonym : Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death; GRACILE syndrome;

Details

Origin ID

510540173;

Automatic exact mappings (from CISMeF team)
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ORDO Gene]
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [HGNC gene]
- GRACILE syndrome [ORDO Disease]
- GRACILE syndrome [MedDRA Preferred Term]
- GRACILE syndrome [DO Concept]
- Gracile syndrome [OMIM Phenotype]
- Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder) [SNOMED CT concept]
- finnish lethal neonatal metabolic syndrome [MeSH Supplementary Concept]

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