This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources.
We inherit genes from our biological parents in specific ways. One of the ways is called autosomal recessive inheritance. Autosomes don't affect an offspring's gender. Most people don't know they carry a recessive gene for a disease until they have a child with the disease, or they have another family member with the disease. It's estimated that all people carry about 5 or more recessive genes that cause genetic diseases or condition.
Alternative titles; symbols. Other entities represented in this entry:. Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.
Tay-Sachs disease is an inherited disease caused by an abnormal gene. People with this abnormal gene do not have an important enzyme called hexosaminidase A HEXA that helps to break down a fatty material called ganglioside GM2. This material builds up in the brain, and eventually damages nerve cells and causes neurological problems. Infants usually begin to show signs of the disease between 3 months and 6 months of age.