mannosidosisn.

Brit.

/maˌnəʊsɪˈdəʊsɪs/, U.S.

/mæˌnoʊsəˈdoʊsəs/

Origin: Formed within English, by derivation. Etymons: mannoside n., -osis suffix.

Etymology: < mannoside n. + -osis suffix (see quot. 1969).

Medicine.

Either of two inherited (autosomal recessive) metabolic storage diseases in humans and certain other mammals, in which deficiency of alpha- or beta-mannosidase causes accumulation of mannose-rich oligosaccharides in the central nervous system and other tissues, resulting in neurological, skeletal, and other abnormalities.

ΘΚΠ

the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun]

amyelia1865

amelia1872

congenital myotonia1886

myotonia congenita1887

Thomsen's disease1890

von Recklinghausen's disease1899

pseudoxanthoma1900

Werdnig–Hoffmann1903

myotonia atrophica1908

Fröhlich1909

Milroy's disease1909

Lindau disease1928

Steinert's disease1932

von Hippel–Lindau disease1932

Werner's syndrome1934

Sturge–Weber syndrome1935

gargoylism1936

Morgagni's syndrome1936

Hurler's disease1937

von Willebrand1941

Turner1942

autism1944

hypophosphatasia1948

Klinefelter1950

mucopolysaccharidosis1952

progeria1957

Pendred1960

Down's syndrome1961

Patau's syndrome1961

Marinesco–Sjögren syndrome1962

cri du chat syndrome1964

Prader–Willi syndrome1964

Noonan syndrome1965

Lesch-Nyhan syndrome1966

Wernicke–Korsakoff1966

Down1967

mannosidosis1969

mucolipidosis1970

Asperger's syndrome1971

Angelman syndrome1972

adrenoleukodystrophy1973

SCID1973

severe combined immune deficiency1973

Miller–Dieker syndrome1980

Asperger1988

Asperger's disorder1994

1969 P. Öckerman in Jrnl. Pediatrics 75 365/1 It is suggested that the term mannosidosis be used, thereby referring to the dominance of mannose in the oligosaccharide material stored.

1978 Onderstepoort Jrnl. Vet. Res. 45 245 The clinical symptoms, gross and histopathological, as well as the ultrastructural appearance of a condition in cross-bred Aberdeen Angus calves resembling the inherited lysosomal storage disease, alpha-mannosidosis, are reported.

1981 Jrnl. Biol. Chem. 256 5181 The accumulation of this substance suggests the possibility of a genetic defect in beta-mannosidase in the catabolic pathway for N-linked complex glycopeptides and would be the first indication of a beta-mannosidosis.

1990 Glia 3 220 Central nervous system myelin deficiency is a consistent feature of caprine beta-mannosidosis, an autosomal recessive neurovisceral lysosomal storage disease.

1998 Clin. Chem. 44 2422 We report here the patterns [of oligosaccharides] in urines from patients with Pompe disease, alpha and beta mannosidoses, galacto-sialidosis, and GM1 gangliosidosis.

This is a new entry (OED Third Edition, September 2000; most recently modified version published online March 2022).

单词	mannosidosis
释义	mannosidosisn. Brit. /maˌnəʊsɪˈdəʊsɪs/, U.S. /mæˌnoʊsəˈdoʊsəs/ Origin: Formed within English, by derivation. Etymons: mannoside n., -osis suffix. Etymology: < mannoside n. + -osis suffix (see quot. 1969). Medicine. Either of two inherited (autosomal recessive) metabolic storage diseases in humans and certain other mammals, in which deficiency of alpha- or beta-mannosidase causes accumulation of mannose-rich oligosaccharides in the central nervous system and other tissues, resulting in neurological, skeletal, and other abnormalities. ΘΚΠ the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] amyelia1865 amelia1872 congenital myotonia1886 myotonia congenita1887 Thomsen's disease1890 von Recklinghausen's disease1899 pseudoxanthoma1900 Werdnig–Hoffmann1903 myotonia atrophica1908 Fröhlich1909 Milroy's disease1909 Lindau disease1928 Steinert's disease1932 von Hippel–Lindau disease1932 Werner's syndrome1934 Sturge–Weber syndrome1935 gargoylism1936 Morgagni's syndrome1936 Hurler's disease1937 von Willebrand1941 Turner1942 autism1944 hypophosphatasia1948 Klinefelter1950 mucopolysaccharidosis1952 progeria1957 Pendred1960 Down's syndrome1961 Patau's syndrome1961 Marinesco–Sjögren syndrome1962 cri du chat syndrome1964 Prader–Willi syndrome1964 Noonan syndrome1965 Lesch-Nyhan syndrome1966 Wernicke–Korsakoff1966 Down1967 mannosidosis1969 mucolipidosis1970 Asperger's syndrome1971 Angelman syndrome1972 adrenoleukodystrophy1973 SCID1973 severe combined immune deficiency1973 Miller–Dieker syndrome1980 Asperger1988 Asperger's disorder1994 1969 P. Öckerman in Jrnl. Pediatrics 75 365/1 It is suggested that the term mannosidosis be used, thereby referring to the dominance of mannose in the oligosaccharide material stored. 1978 Onderstepoort Jrnl. Vet. Res. 45 245 The clinical symptoms, gross and histopathological, as well as the ultrastructural appearance of a condition in cross-bred Aberdeen Angus calves resembling the inherited lysosomal storage disease, alpha-mannosidosis, are reported. 1981 Jrnl. Biol. Chem. 256 5181 The accumulation of this substance suggests the possibility of a genetic defect in beta-mannosidase in the catabolic pathway for N-linked complex glycopeptides and would be the first indication of a beta-mannosidosis. 1990 Glia 3 220 Central nervous system myelin deficiency is a consistent feature of caprine beta-mannosidosis, an autosomal recessive neurovisceral lysosomal storage disease. 1998 Clin. Chem. 44 2422 We report here the patterns [of oligosaccharides] in urines from patients with Pompe disease, alpha and beta mannosidoses, galacto-sialidosis, and GM1 gangliosidosis. This is a new entry (OED Third Edition, September 2000; most recently modified version published online March 2022). < n.1969
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