Question: What are the symptoms of Alport syndrome ?
Answer: What are the signs and symptoms of Alport syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alport syndrome. 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. Signs and Symptoms Approximate number of patients (when available) Glomerulopathy 90% Retinopathy 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the lens 50% Aseptic leukocyturia 50% Cataract 50% Dry skin 50% Edema of the lower limbs 50% Hypertension 50% Migraine 50% Nephrotic syndrome 50% Pallor 50% Periorbital edema 50% Proteinuria 50% Renal insufficiency 50% Respiratory insufficiency 50% Tinnitus 50% Weight loss 50% Abdominal situs inversus 7.5% Abnormality of the macula 7.5% Corneal dystrophy 7.5% Feeding difficulties in infancy 7.5% Myopia 7.5% Nausea and vomiting 7.5% Neoplasm of the colon 7.5% Photophobia 7.5% Sarcoma 7.5% Thrombocytopenia 7.5% Uterine neoplasm 7.5% Anterior lenticonus - Congenital cataract - Corneal erosion - Diffuse glomerular basement membrane lamellation - Diffuse leiomyomatosis - Heterogeneous - Hypoparathyroidism - Ichthyosis - Microscopic hematuria - Nephritis - Progressive - Stage 5 chronic kidney disease - X-linked dominant inheritance - 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.
Source: GARD