| Descriptor English: | Fucosidosis | ||||||
| Descriptor Spanish: |
Fucosidosis
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| Descriptor Portuguese: | Fucosidose | ||||||
| Descriptor French: | Fucosidose | ||||||
| Entry term(s): |
Alpha-Fucosidase Deficiency Deficiency Disease, Fucosidase Deficiency Disease, alpha Fucosidase Deficiency Disease, alpha L Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Disease, Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Deficiency Fucosidase Deficiency Fucosidase Deficiency Disease Fucosidase Deficiency Diseases Fucosidosis Type 1 Fucosidosis Type 1s Fucosidosis Type I Fucosidosis Type II Fucosidosis, Infantile Fucosidosis, Juvenile Infantile Fucosidosis Juvenile Fucosidosis Type 1, Fucosidosis Type 1s, Fucosidosis alpha Fucosidase Deficiency Disease alpha L Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Diseases alpha-L-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Disease alpha-L-Fucosidase Deficiency Diseases |
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| Tree number(s): |
C10.228.140.163.100.435.295 C16.320.565.189.435.295 C16.320.565.202.303 C16.320.565.595.554.295 C18.452.132.100.435.295 C18.452.648.189.435.295 C18.452.648.202.303 C18.452.648.595.554.295 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D005645 | ||||||
| Scope note: | An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31) |
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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) Fucose (1966-1984) Fucosidase (1975-1984) |
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| Public MeSH Note: | 1985 |
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| History Note: | 1985 |
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| Related: |
alpha-L-Fucosidase
MeSH | ||||||
| DeCS ID: | 5780 | ||||||
| Unique ID: | D005645 | ||||||
| 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: | 2016/06/28 |
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Fucosidosis
- Preferred
Fucosidosis Type I
- Narrower
Fucosidosis Type II
- Narrower
| Concept UI |
M0008875 |
| Scope note | An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31) |
| Preferred term | Fucosidosis |
| Entry term(s) |
Alpha-Fucosidase Deficiency Deficiency Disease, Fucosidase Deficiency Disease, alpha Fucosidase Deficiency Disease, alpha L Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Disease, Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Diseases, Fucosidase Deficiency Diseases, alpha-Fucosidase Deficiency Diseases, alpha-L-Fucosidase Deficiency Fucosidase Deficiency Fucosidase Deficiency Disease Fucosidase Deficiency Diseases alpha Fucosidase Deficiency Disease alpha L Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Disease alpha-Fucosidase Deficiency Diseases alpha-L-Fucosidase Deficiency alpha-L-Fucosidase Deficiency Disease alpha-L-Fucosidase Deficiency Diseases |
| Concept UI |
M0335151 |
| Preferred term | Fucosidosis Type I |
| Entry term(s) |
Fucosidosis Type 1 Fucosidosis Type 1s Fucosidosis, Infantile Infantile Fucosidosis Type 1, Fucosidosis Type 1s, Fucosidosis |
| Concept UI |
M0335152 |
| Preferred term | Fucosidosis Type II |
| Entry term(s) |
Fucosidosis, Juvenile Juvenile Fucosidosis |
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