Phenotypes associated with the disease Alpha-mannosidosis, adult form (ORPHA:309288, an Orphanet rare-disease identifier):
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:309288)
- Oligosacchariduria (HP:0010471, a Human Phenotype Ontology term): Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:309288)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:309288)
- Recurrent infections (HP:0002719, a Human Phenotype Ontology term): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:309288)
- Asthenia (HP:0025406, a Human Phenotype Ontology term): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:309288)
- Macroglossia (HP:0000158, a Human Phenotype Ontology term): Increased length and width of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Mixed hearing impairment (HP:0000410, a Human Phenotype Ontology term): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Myopia (HP:0000545, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Atypical behavior (HP:0000708, a Human Phenotype Ontology term): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Depression (HP:0000716, a Human Phenotype Ontology term): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Hallucinations (HP:0000738, a Human Phenotype Ontology term): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Anxiety (HP:0000739, a Human Phenotype Ontology term): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Delusion (HP:0000746, a Human Phenotype Ontology term): A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Osteopenia (HP:0000938, a Human Phenotype Ontology term): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Cerebellar atrophy (HP:0001272, a Human Phenotype Ontology term): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Confusion (HP:0001289, a Human Phenotype Ontology term): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Hepatosplenomegaly (HP:0001433, a Human Phenotype Ontology term): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Pneumonia (HP:0002090, a Human Phenotype Ontology term): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Cerebral cortical atrophy (HP:0002120, a Human Phenotype Ontology term): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Clumsiness (HP:0002312, a Human Phenotype Ontology term): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Drowsiness (HP:0002329, a Human Phenotype Ontology term): Abnormal feeling of sleepiness or difficulty staying awake. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Immunodeficiency (HP:0002721, a Human Phenotype Ontology term): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Subcortical cerebral atrophy (HP:0012157, a Human Phenotype Ontology term): Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Recurrent gastroenteritis (HP:0031123, a Human Phenotype Ontology term): Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:309288)
- Optic disc pallor (HP:0000543, a Human Phenotype Ontology term): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:309288)
- Aortic regurgitation (HP:0001659, a Human Phenotype Ontology term): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:309288)
- Pancytopenia (HP:0001876, a Human Phenotype Ontology term): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:309288)
- Corneal opacity (HP:0007957, a Human Phenotype Ontology term): A reduction of corneal clarity. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:309288)