| Descriptor English: | alpha-Mannosidosis | ||||||
| Descriptor Spanish: |
alfa-Manosidosis
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| Descriptor Portuguese: | alfa-Manosidose | ||||||
| Descriptor French: | alpha-Mannosidose | ||||||
| Entry term(s): |
Alpha-D-Mannosidosis Alpha-Mannosidase B Deficiency Alpha-Mannosidosis, Type I Deficiencies, Lysosomal alpha-D-Mannosidase Deficiencies, alpha-Mannosidase Deficiency, Lysosomal alpha-D-Mannosidase Deficiency, alpha-Mannosidase Lysosomal Alpha B Mannosidosis Lysosomal alpha D Mannosidase Deficiency Lysosomal alpha-D-Mannosidase Deficiencies Lysosomal alpha-D-Mannosidase Deficiency Mannosidosis, alpha B Lysosomal Mannosidosis, alpha B, Lysosomal alpha Mannosidase B Deficiency alpha Mannosidase Deficiency alpha Mannosidosis alpha-D-Mannosidase Deficiencies, Lysosomal alpha-D-Mannosidase Deficiency, Lysosomal alpha-Mannosidase Deficiencies alpha-Mannosidase Deficiency alpha-Mannosidoses |
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| Tree number(s): |
C16.320.565.202.607.500 C16.320.565.595.577.500 C18.452.648.202.607.500 C18.452.648.595.577.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D008363 | ||||||
| Scope note: | An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Carbohydrate Metabolism, Inborn Errors (1966-1984) Mannose (1966-1984) Mannosidases (1975-1984) Mannosidosis (1985-2003) Metabolism, Inborn Errors (1966-1984) |
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| Public MeSH Note: | 2004; see MANNOSIDOSIS 1984-2003 |
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| History Note: | 2004(1985) |
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| Related: |
alpha-Mannosidase
MeSH | ||||||
| DeCS ID: | 8535 | ||||||
| Unique ID: | D008363 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1985/01/01 | ||||||
| Date of Entry: | 1984/05/29 | ||||||
| Revision Date: | 2013/07/08 |
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|
alpha-Mannosidosis
- Preferred
| Concept UI |
M0013006 |
| Scope note | An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. |
| Preferred term | alpha-Mannosidosis |
| Entry term(s) |
Alpha-D-Mannosidosis Alpha-Mannosidase B Deficiency Alpha-Mannosidosis, Type I Deficiencies, Lysosomal alpha-D-Mannosidase Deficiencies, alpha-Mannosidase Deficiency, Lysosomal alpha-D-Mannosidase Deficiency, alpha-Mannosidase Lysosomal Alpha B Mannosidosis Lysosomal alpha D Mannosidase Deficiency Lysosomal alpha-D-Mannosidase Deficiencies Lysosomal alpha-D-Mannosidase Deficiency Mannosidosis, alpha B Lysosomal Mannosidosis, alpha B, Lysosomal alpha Mannosidase B Deficiency alpha Mannosidase Deficiency alpha Mannosidosis alpha-D-Mannosidase Deficiencies, Lysosomal alpha-D-Mannosidase Deficiency, Lysosomal alpha-Mannosidase Deficiencies alpha-Mannosidase Deficiency alpha-Mannosidoses |
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