Phenotypes associated with the disease autosomal recessive inherited pseudoxanthoma elasticum (OMIM:264800, an entry in Online Mendelian Inheritance in Man):
- Stroke (HP:0001297, a Human Phenotype Ontology term): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 1/16. (PMID:16410789)
- Stroke (HP:0001297, a Human Phenotype Ontology term): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 3/67. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:23935882)
- Optic disc drusen (HP:0012426, a Human Phenotype Ontology term): Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. Evidence: PCS. (PMID:23577018)
- Weak pulse (HP:0032553, a Human Phenotype Ontology term): A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. Evidence: PCS. Frequency: 1/16. (PMID:16410789)
- White oral mucosal macule (HP:0033026, a Human Phenotype Ontology term): A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. Evidence: PCS. (PMID:23762643)
- Retinal peau d'orange (HP:0033027, a Human Phenotype Ontology term): A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. Evidence: PCS. Frequency: 9/9. Onset: Juvenile onset (HP:0003621, a Human Phenotype Ontology term). (PMID:25526100)
- Decreased DLCO (HP:0045051, a Human Phenotype Ontology term): Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. Evidence: PCS. Frequency: 11/35. Onset: Middle age onset (HP:0003596, a Human Phenotype Ontology term). (PMID:27622520)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 50/195. (PMID:29652691)
- Restrictive cardiomyopathy (HP:0001723, a Human Phenotype Ontology term): Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. Evidence: PCS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (PMID:3342167)
- Intermittent claudication (HP:0004417, a Human Phenotype Ontology term): Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. Evidence: PCS. Frequency: 2/16. (PMID:16410789)
- Intermittent claudication (HP:0004417, a Human Phenotype Ontology term): Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. Evidence: PCS. Frequency: 2/26. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:23968982)
- Gastrointestinal hemorrhage (HP:0002239, a Human Phenotype Ontology term): Hemorrhage affecting the gastrointestinal tract. Evidence: PCS. Frequency: 5/16. (PMID:16410789)
- Cutis laxa (HP:0000973, a Human Phenotype Ontology term): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 7/16. (PMID:16410789)
- Angioid streaks (HP:0001102, a Human Phenotype Ontology term): Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid). Evidence: PCS. Frequency: 38/40. (PMID:24749718)
- Choroidal neovascularization (HP:0011506, a Human Phenotype Ontology term): Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. Evidence: PCS. Frequency: 17/50. Onset: Middle age onset (HP:0003596, a Human Phenotype Ontology term). (PMID:24749718)
- Retinal hemorrhage (HP:0000573, a Human Phenotype Ontology term): Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. Evidence: PCS. (PMID:20301292)
- Civatte bodies (HP:0025115, a Human Phenotype Ontology term): Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant. Evidence: PCS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (PMID:15970621)
- Angina pectoris (HP:0001681, a Human Phenotype Ontology term): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: PCS. (PMID:25383264)
- Macular degeneration (HP:0000608, a Human Phenotype Ontology term): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. Frequency: 5/40. (PMID:24749718)
- Mitral stenosis (HP:0001718, a Human Phenotype Ontology term): An abnormal narrowing of the orifice of the mitral valve. Evidence: PCS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (PMID:1600795)
- Hypertension (HP:0000822, a Human Phenotype Ontology term): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 19/67. (PMID:23935882)
- Renovascular hypertension (HP:0100817, a Human Phenotype Ontology term): The presence of hypertension related to stenosis of the renal artery. Evidence: PCS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (PMID:15970621)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:16410789)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (PMID:23935882)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): 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. Frequency: 7/15. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:16410789)
- Yellow papule (HP:0025507, a Human Phenotype Ontology term): A papule with yellow color. Evidence: PCS. Frequency: 12/16. (PMID:16410789)
- Accelerated atherosclerosis (HP:0004943, a Human Phenotype Ontology term): Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. Evidence: PCS. (PMID:23968982)
- Mitral valve prolapse (HP:0001634, a Human Phenotype Ontology term): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 4/99. Onset: Adult onset (HP:0003581, a Human Phenotype Ontology term). (PMID:23968982;PMID:23935882)
- Coronary artery atherosclerosis (HP:0001677, a Human Phenotype Ontology term): 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. Frequency: 3/67. (PMID:23935882)