Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. Consequently, if both parents are carriers, there will be a 25% chance with each pregnancy that the defective gene from both parents will be inherited, and the child will suffer from the disease. There is a two in three chance that unaffected siblings will be carriers (Figure 1). In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed.
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AMD (disambiguation)Alpha-MannosidaseAlpha MannosidosisBeta-mannosidosisGlycoside hydrolase family 38List of MeSH codes (C16)List of MeSH codes (C18)List of conditions treated with hematopoietic stem cell transplantationList of diseases (A)List of diseases (L)LocoweedLysosomal alpha-D-mannosidase deficiencyLysosomal storage diseaseMacroglossiaMannosidosisPersian catSplenomegalySwainsona greyanaVelmanase alfa
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Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. Consequently, if both parents are carriers, there will be a 25% chance with each pregnancy that the defective gene from both parents will be inherited, and the child will suffer from the disease. There is a two in three chance that unaffected siblings will be carriers (Figure 1). In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed.
has abstract
Alfa-mannozydoza (ang. alpha-m ...... takie jak mukopolisacharydozy.
@pl
Alpha-mannosidosis is a lysoso ...... ith swainsonine from locoweed.
@en
Die α-Mannosidose ist eine seh ...... lysosomale Speicherkrankheit.
@de
L'alpha-mannosidose est une ma ...... presque toujours la mutation.
@fr
Альфа-маннозидо́з — редкое аут ...... аносит ущерб в животноводстве.
@ru
DiseasesDB
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geneReviewsName
Alpha-Mannosidosis
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MeSH ID
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1,021,970,412
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caption
Alpha-mannosidosis has an autosomal recessive pattern of inheritance
Figure 1
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DiseasesDB
GeneReviewsName
Alpha-Mannosidosis
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GeneReviewsNBK
NBK1396
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ICD
MeshID
D008363
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name
Alpha-mannosidosis
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OMIM
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Alfa-mannozydoza (ang. alpha-m ...... ę opisał Ockerman w 1967 roku.
@pl
Alpha-mannosidosis is a lysoso ...... ith swainsonine from locoweed.
@en
Die α-Mannosidose ist eine seh ...... lysosomale Speicherkrankheit.
@de
L'alpha-mannosidose est une ma ...... presque toujours la mutation.
@fr
Альфа-маннозидо́з — редкое аут ...... аносит ущерб в животноводстве.
@ru
label
Alfa-mannozydoza
@pl
Alpha-mannosidose
@fr
Alpha-mannosidosis
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Α-Mannosidose
@de
Альфа-маннозидоз
@ru
sameAs
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Alpha-mannosidosis
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