Huntington's disease - Symptoms and causes - Mayo Clinic
2024年4月25日 · Huntington's disease follows an autosomal dominant inheritance pattern. This means that a person needs only one copy of the nontypical gene to develop the disorder. With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent.
Autosomal dominant inheritance pattern - Mayo Clinic
In an autosomal dominant disorder, the changed gene is a dominant gene. It's located on one of the nonsex chromosomes, called autosomes. Only one changed gene is needed for someone to be affected by this type of condition.
Epidermolysis bullosa - Symptoms and causes - Mayo Clinic
2024年6月12日 · Autosomal dominant inheritance pattern. In an autosomal dominant disorder, the changed gene is a dominant gene. It's located on one of the nonsex chromosomes, called autosomes. Only one changed gene is needed for someone …
Huntington's disease - Diagnosis and treatment - Mayo Clinic
2024年4月25日 · A preliminary diagnosis of Huntington's disease is based on your answers to questions, a general physical exam and your family medical history. Neurological tests and an evaluation of your mental health also is done.
Tay-Sachs disease - Symptoms and causes - Mayo Clinic
2022年1月21日 · Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents. The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A.
Polycystic kidney disease - Symptoms and causes - Mayo Clinic
2024年8月27日 · Autosomal dominant polycystic kidney disease (ADPKD). This is the most common type of ongoing kidney disease that's passed through families, also called inherited. Symptoms of ADPKD often start between the ages of 30 and 40.
Wilson's disease - Symptoms and causes - Mayo Clinic
2023年12月2日 · Autosomal recessive inheritance pattern. Wilson's disease is caused by a changed gene inherited from each parent. Inheriting a changed gene from just one parent rarely affects a person's health. But that person has one changed gene and one typical gene.
Ask the Mayo Mom: Polycystic kidney disease can affect children, …
2022年5月13日 · The two main types of polycystic kidney disease, caused by different genetic flaws, are: Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40.
Neurofibromatosis type 1 - Symptoms and causes - Mayo Clinic
Autosomal dominant inheritance pattern. In an autosomal dominant disorder, the changed gene is a dominant gene. It's located on one of the nonsex chromosomes, called autosomes. Only one changed gene is needed for someone to be affected by this type of condition.
Sickle cell anemia is an inherited form of anemia
2020年2月25日 · The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected.