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Metadata
ID DOID:0111455
Name GRACILE syndrome
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 BCS1L on chromosome 2q35.
https://www.ncbi.nlm.nih.gov/pubmed/12215968, https://www.ncbi.nlm.nih.gov/pubmed/9482441
Xrefs

GARD:1

MESH:C537934

OMIM:603358

ORDO:53693

SNOMEDCT_US_2020_09_01:703388005

UMLS_CUI:C1864002

Synonyms

Fellman disease [EXACT]

Finnish lactic acidosis with hepatic hemosiderosis [EXACT]

Finnish lethal neonatal metabolic syndrome [EXACT]

FLNMS [EXACT]

growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome [EXACT]

growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome [EXACT]

growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death [EXACT]

Parent Relationships

is_a mitochondrial metabolism disease

is_a autosomal recessive disease

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