GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome (Q102276): Difference between revisions
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A síndrome GRACILE é caracterizada por retardo do crescimento fetal, aminoacidúria, colestase, sobrecarga de ferro, cidose lática e morte precoce. A síndrome afeta principalmente a população finlandesa, na qual a incidência é de aproximadamente 1 em 47.000. É transmitida de forma autossômica recessiva. O gene causador foi identificado como BCS1L (cromossomo 2q33-37), que codifica uma proteína da membrana interna mitocondrial. | |||
| description / en | description / en | ||
GRACILE syndrome is characterised by fetal 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. | |||
Revision as of 19:12, 16 August 2026
GRACILE syndrome is characterised by fetal 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_510540173 |
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| English | GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome |
GRACILE syndrome is characterised by fetal 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. |
