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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Alpha mannosidosis type 2


Other Names for this Disease

  • Alpha-mannosidosis adult-onset form
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of alpha mannosidosis type 2?

More common signs and symptoms of alpha mannosidosis type 2 include:[1][2]

Bone abnormalities
Muscle weakness
Intellectual disability
Developmental delays (e.g., motor and speech)
Hearing loss
Weakened immune system
Cerebellar disorders (e.g., ataxia)
Occasional psychiatric symptoms (e.g., depression, anxiety, or hallucinations)
Cataract
Enlarged liver and spleen (with normal function)
Arthritis

People with alpha-mannosidosis type 2 often have distinct facial features, including large head size, large forehead, low hair line, rounded eyebrows, large ears, wide spaced teeth, overgrown gums, large tongue, protruding jaw, and flattened bridge of the nose.

Last updated: 10/1/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha mannosidosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the rib cage -
Autosomal recessive inheritance -
Babinski sign -
Broad forehead -
Cerebellar atrophy -
Coarse facial features -
Corticospinal tract disease in lower limbs -
Depressed nasal ridge -
Dysarthria -
Dysostosis multiplex -
Epicanthus -
Femoral bowing -
Flat occiput -
Frontal bossing -
Gait ataxia -
Gingival overgrowth -
Growth delay -
Hepatomegaly -
Hyperreflexia -
Hypertrichosis -
Hypogammaglobulinemia -
Impaired smooth pursuit -
Increased vertebral height -
Inguinal hernia -
Intellectual disability -
Limb ataxia -
Low anterior hairline -
Macrocephaly -
Macroglossia -
Macrotia -
Malar flattening -
Mandibular prognathia -
Midface retrusion -
Muscular hypotonia -
Nystagmus -
Pectus carinatum -
Progressive retinal degeneration -
Recurrent bacterial infections -
Spasticity -
Spinocerebellar tract disease in lower limbs -
Splenomegaly -
Spondylolisthesis -
Thick eyebrow -
Thickened calvaria -
Thoracolumbar kyphosis -
Vacuolated lymphocytes -
Widely spaced teeth -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Alpha-Mannosidosis. Genetics Home Reference. 2007; http://www.ghr.nlm.nih.gov/condition/alpha-mannosidosis. Accessed 10/1/2013.
  2. Malm D, Nilssen O. Alpha-Mannosidosis. GeneReview. 2001; http://www.ncbi.nlm.nih.gov/books/NBK1396/. Accessed 10/1/2013.


Other Names for this Disease
  • Alpha-mannosidosis adult-onset form
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.