Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
- Hereditary endotheliopathy - retinopathy - nephropathy - stroke
- HERNS syndrome
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What are the signs and symptoms of Hereditary endotheliopathy, retinopathy, nephropathy, and stroke?
Common to all affected individuals is the presence of cerebral microvasculopathic lesions. Some individuals go on to develop mass lesions, predominantly involving the right frontal lobe. These lesions are often mistaken for tumors.
The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary endotheliopathy, retinopathy, nephropathy, and stroke. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Dichgans M, Meschia JF. Cerebrovascular disorders. In: Rimoin DL et al. Principle and Practice of Medical Genetics, 5th ed. Philadelphia, PA: Churchill Livingston Elsevier; 2002;
- Jen JC, Baloh RW. Herediatry endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In: Bogousslavsky J, Caplan L., eds. Uncommon Causes of Stroke. 2nd ed. Cambridge University Press; 2001;
- Seifried C, Sitzer M, Jen J, Auburer G. HERNS. A rare, hereditary, multisystem disease with cerebral microangiopathy. Nervenartz. 2005;
- Cohn AC, Kotschet K, Veitch A, Delatycki MB, McCombe MF. Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin Experiment Ophthalmol. April 2005; 33(2):181-183.