Gracile Syndrome (GRACILE)

Alias:

Finnish Lethal Neonatal Metabolic Syndrome

Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, and Early Death

Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Fellman Disease

Finnish Lactic Acidosis with Hepatic Hemosiderosis

Fellman Syndrome

Flnms

Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Lactic Acidosis, Finnish, with Hepatic Hemosiderosis

Gracile

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Gracile Syndrome, also known as finnish lethal neonatal metabolic syndrome, is related to mitochondrial complex iii deficiency, nuclear type 1 and bjornstad syndrome. An important gene associated with Gracile Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver and kidney, and related phenotypes are hearing impairment and intrauterine growth retardation

Related ID：

MALACARDS：GRC001

OMIM：603358

MESH：C537934