Phenotypes associated with the disease Tangier disease (OMIM:205400):
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. (OMIM:205400)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: PCS. (OMIM:205400)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:10431236)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: PCS. (OMIM:205400)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. (OMIM:205400)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: PCS. (OMIM:205400)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:205400)
- Elevated circulating apolipoprotein A-II concentration (HP:0031800): The concentration of apolipoprotein A-II in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:10431236)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. (OMIM:205400)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: PCS. (OMIM:205400)
- Facial diplegia (HP:0001349): Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). Evidence: PCS. (OMIM:205400)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. (OMIM:205400)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: PCS. (OMIM:205400)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:205400)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. (PMID:10431236)
- Decreased circulating apolipoprotein A-I concentration (HP:0031799): The concentration of apolipoprotein A-I in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:10431236)
- Peripheral demyelination (HP:0011096): A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. Evidence: PCS. (OMIM:205400)
- Cicatricial ectropion (HP:0025608): An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. Evidence: IEA. (OMIM:205400)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: PCS. (OMIM:205400)
- 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:10431236)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: PCS. (OMIM:205400)
- 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: PCS. (OMIM:205400)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. (OMIM:205400)
- Atherosclerosis (HP:0002621): A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Evidence: PCS. (OMIM:205400)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: PCS. (OMIM:205400)