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GRACILE syndrome

Synonyms
Fellman syndrome; Finnish lactic acidosis with hepatic hemosiderosis; Finnish lethal neonatal metabolic syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

GRACILE syndrome is an autosomal recessive lethal disorder characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. Patients develop fulminant lactic acidosis during the first day of life. Despite intensive care, about half of affected infants die during the first days of life, and the remainder within 4 months of life. Finnish and British patients have been reported, with slightly different phenotypes; the British patients have additional features of complex III deficiency and neurologic symptoms (Visapaa et al., 2002). [from OMIM]

Available tests

70 tests are in the database for this condition.

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Clinical tests (70 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1, BCS1L
    Summary: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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