Phenotypes associated with the disease familial isolated deficiency of vitamin E (OMIM:277460):
- Clumsiness (HP:0002312): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:12470185;PMID:9931538)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. (OMIM:277460)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 1/1. (PMID:12470185)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. (OMIM:277460)
- Delayed somatosensory central conduction time (HP:0100291): An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT). Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Cerebellar atrophy (HP:0001272): 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: PCS. Frequency: 1/1. (PMID:12470185)
- Perseverative thought (HP:0030223): The repetitive production of the same response to different commands. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Elevated circulating LDL-C concentration (HP:0003141): The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:277460)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:277460)
- Ataxia (HP:0001251): 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: PCS. Frequency: 1/1. (PMID:9931538)
- Dysdiadochokinesis (HP:0002075): A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Tendon xanthomatosis (HP:0010874): The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). Evidence: TAS. (OMIM:277460)
- Progressive cerebellar ataxia (HP:0002073). Evidence: PCS. Frequency: 1/1. (PMID:12470185)
- Short term memory impairment (HP:0033687): A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds). Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Impaired proprioception (HP:0010831): A loss or impairment of the sensation of the relative position of parts of the body and joint position. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Decreased circulating vitamin E concentration (HP:0100513): A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. Evidence: PCS. Frequency: 2/2. (PMID:12470185;PMID:9931538)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12470185)
- Positive Romberg sign (HP:0002403): The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. Evidence: PCS. Frequency: 1/1. (PMID:9931538)
- Xanthelasma (HP:0001114): The presence of xanthomata in the skin of the eyelid. Evidence: TAS. (OMIM:277460)