Phenotypes associated with the disease X-linked adrenoleukodystrophy (ORPHA:43):
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Atypical behavior (HP:0000708): 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: Very frequent (HP:0040281). (ORPHA:43)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Progressive hearing impairment (HP:0001730): A progressive form of hearing impairment. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Clumsiness (HP:0002312): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Progressive spastic paraparesis (HP:0007199). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Leg muscle stiffness (HP:0008969). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Disinhibition (HP:0000734): Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Urinary bladder sphincter dysfunction (HP:0002839): Abnormal function of a sphincter of the urinary bladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Increased circulating ACTH level (HP:0003154): An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Abnormal sexual behavior (HP:0008768): A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Abnormality of adrenal physiology (HP:0011733): A functional abnormality of the adrenal glands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:43)
- Impotence (HP:0000802): Inability to develop or maintain an erection of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:43)
- Paralysis (HP:0003470): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:43)