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α-Mannosidosis is an autosomal recessive disease resulting from the deficiency of lysosomal α-mannosidase (LAMAN).
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
α-Mannosidosis is an autosomal recessive disease resulting from the deficiency of lysosomal α-mannosidase (LAMAN). The mutation is proven to be present on the LAMAN gene, which is a frame shift at codon 583. The frame shift is caused due to a deletion (1748del4).
Clinical features
Clinical features include progressive mental retardation, recurrent infections, skeletal changes and hearing impairment.
Additional information
References
Pubmed ID: 9396732
Omia ID: 625
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