Marinesco-Sjögren syndrome

Ma·ri·nes·co-Gar·land syn·drome

(mah-rē-nes'kō gar'lănd), [MIM*248800] a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance. Synonym(s): cataract-oligophrenia syndrome, Marinesco-Sjögren syndrome, Torsten Sjögren syndrome

Marinesco-Sjögren syndrome

An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development; variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness.
Molecular pathology
Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome.

Garland,

Hugh G., English neurologist. 1903-1967. Bland-White-Garland syndrome - see under BlandMarinesco-Sjögren-Garland syndrome - see under MarinescoGarland-Moorhouse syndrome - Synonym(s): Marinesco-Sjögren syndrome

Marinesco,

Georges, Romanian neurologist, 1863-1938. Marinesco-Radovici reflex - Synonym(s): Radovici signMarinesco-Sjögren-Garland syndrome - a rare neurologic disorder characterized by cerebellolental degeneration with mental retardation. Synonym(s): cataract-oligophrenia syndrome; Torsten Sjögren syndromeMarinesco-Sjögren syndrome - development and mental retardation. Synonym(s): Garland-Moorhouse syndrome; hereditary oligophrenic cerebellolental degeneration; oligophrenic cerebellolenticular degeneration; Sjögren syndrome; Torsten syndromeMarinesco succulent hand - edema of the hand with coldness and lividity of the skin, observed in syringomyelia. Synonym(s): main succulente

Sjögren,

Karl Gustaf Torsten, Swedish physician, 1859-1939. Marinesco-Sjögren-Garland syndrome - see under MarinescoMarinesco-Sjögren syndrome - see under MarinescoSjögren syndrome - Synonym(s): Marinesco-Sjögren syndromeSjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndromeTorsten syndrome - Synonym(s): Marinesco-Sjögren syndrome

单词	marinesco-sjögren syndrome
释义	Marinesco-Sjögren syndrome Ma·ri·nes·co-Gar·land syn·drome (mah-rē-nes'kō gar'lănd), [MIM248800] a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance. Synonym(s): cataract-oligophrenia syndrome, Marinesco-Sjögren syndrome, Torsten Sjögren syndrome Marinesco-Sjögren syndrome An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development; variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness. Molecular pathology Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome. Garland, Hugh G., English neurologist. 1903-1967. Bland-White-Garland syndrome* - see under BlandMarinesco-Sjögren-Garland syndrome - see under MarinescoGarland-Moorhouse syndrome - Synonym(s): Marinesco-Sjögren syndrome Marinesco, Georges, Romanian neurologist, 1863-1938. Marinesco-Radovici reflex - Synonym(s): Radovici signMarinesco-Sjögren-Garland syndrome - a rare neurologic disorder characterized by cerebellolental degeneration with mental retardation. Synonym(s): cataract-oligophrenia syndrome; Torsten Sjögren syndromeMarinesco-Sjögren syndrome - development and mental retardation. Synonym(s): Garland-Moorhouse syndrome; hereditary oligophrenic cerebellolental degeneration; oligophrenic cerebellolenticular degeneration; Sjögren syndrome; Torsten syndromeMarinesco succulent hand - edema of the hand with coldness and lividity of the skin, observed in syringomyelia. Synonym(s): main succulente Sjögren, Karl Gustaf Torsten, Swedish physician, 1859-1939. Marinesco-Sjögren-Garland syndrome - see under MarinescoMarinesco-Sjögren syndrome - see under MarinescoSjögren syndrome - Synonym(s): Marinesco-Sjögren syndromeSjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndromeTorsten syndrome - Synonym(s): Marinesco-Sjögren syndrome
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