GRACILE syndrome

Term ID

DOID:0111455

Synonyms

• Fellman disease
• Finnish lactic acidosis with hepatic hemosiderosis
• Finnish lethal neonatal metabolic syndrome
• FLNMS
• growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
• growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
• growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death

Definition

A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (2)

References

• GARD:1
• MESH:C537934
• MIM:603358
• ORDO:53693
• SNOMEDCT_US_2023_03_01:703388005
• UMLS_CUI:C1864002

Ontology

Human Disease   ( DOID:0111455 )