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Genetic and Rare Diseases Information Center (GARD)

Alpha mannosidosis type 2

Other Names for this Disease
  • Alpha-mannosidosis adult-onset form
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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)
Enlarged liver and spleen (with normal function)

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 tongue 90%
Cataract 90%
Coarse facial features 90%
Cognitive impairment 90%
Craniofacial hyperostosis 90%
Delayed skeletal maturation 90%
Depressed nasal bridge 90%
Hearing impairment 90%
Hepatomegaly 90%
Opacification of the corneal stroma 90%
Skeletal dysplasia 90%
Splenomegaly 90%
Type II diabetes mellitus 90%
Abnormality of the helix 50%
Abnormality of the hip bone 50%
Abnormality of the palate 50%
Bowing of the long bones 50%
Dental malocclusion 50%
Gingival overgrowth 50%
Hernia of the abdominal wall 50%
Hypertelorism 50%
Kyphosis 50%
Macrotia 50%
Muscular hypotonia 50%
Otitis media 50%
Prominent supraorbital ridges 50%
Scoliosis 50%
Short neck 50%
Arthritis 7.5%
Aseptic necrosis 7.5%
Hallucinations 7.5%
Increased intracranial pressure 7.5%
Macrocephaly 7.5%
Mandibular prognathia 7.5%
Recurrent respiratory infections 7.5%
Synostosis of joints 7.5%
Abnormality of the rib cage -
Autosomal recessive inheritance -
Babinski sign -
Broad forehead -
Cerebellar atrophy -
Decreased antibody level in blood -
Depressed nasal ridge -
Dysarthria -
Dysostosis multiplex -
Epicanthus -
Femoral bowing -
Flat occiput -
Frontal bossing -
Gait ataxia -
Growth delay -
Hyperreflexia -
Hypertrichosis -
Impaired smooth pursuit -
Increased vertebral height -
Inguinal hernia -
Intellectual disability -
Limb ataxia -
Low anterior hairline -
Macroglossia -
Malar flattening -
Midface retrusion -
Nystagmus -
Pectus carinatum -
Progressive retinal degeneration -
Recurrent bacterial infections -
Sensorineural hearing impairment -
Spasticity -
Spinocerebellar tract disease in lower limbs -
Spondylolisthesis -
Thick eyebrow -
Thickened calvaria -
Thoracolumbar kyphosis -
Vacuolated lymphocytes -
Widely spaced teeth -

Last updated: 7/1/2016

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.

  1. Alpha-Mannosidosis. Genetics Home Reference. 2007; Accessed 10/1/2013.
  2. Malm D, Nilssen O. Alpha-Mannosidosis. GeneReview. 2001; 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.