Alpha-mannosidosis

Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead ...¹

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Symptoms List: Alpha-mannosidosis

Symptoms and clinical features may include:² Clinical Features of Alpha-mannosidosis:

• Inguinal hernia
• Macroglossia
• Narrow palate
• Gingival overgrowth
• Macrocephaly
• Coarse facial features
• Mandibular prognathia
• Hypertelorism
• Prominent supraorbital ridges
• Hearing impairment
• Chronic otitis media
• Macrotia
• Short neck
• Cataract
• Widely spaced teeth
• Dental malocclusion
• Hallucinations
• Intellectual disability
• Muscular hypotonia ...

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Types of Alpha-mannosidosis

Some types of this condition may include:³ Types of alpha-mannosidosis:

• Alpha-mannosidosis, adult form
• Alpha-mannosidosis, infantile form
• Alpha-mannosidosis type 1
• alpha-Mannosidosis, Type II

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Genetics of Alpha-mannosidosis

Genetic Changes: Mutations in the MAN2B1 gene cause alpha-mannosidosis . This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes , which are compartments that digest and recycle materials in the cell. Within lysosomes, the ...⁴

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Names and Terminology

Other Names for This Condition

• alpha-D-mannosidosis
• alpha-mannosidase B deficiency
• alpha-mannosidase deficiency
• deficiency of alpha-mannosidase
• lysosomal alpha B mannosidosis
• lysosomal alpha-D-mannosidase deficiency ...

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References

1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ alpha-mannosidosis
2. Source: Human Phenotype Ontology
3. Source: NCI Thesaurus
4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ alpha-mannosidosis

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.