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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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