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- ... been identified in people with maple syrup urine disease. These mutations most often cause the severe, classic ... becomes apparent soon after birth. Maple syrup urine disease gets its name from the distinctive sweet odor ...
- ... that cause a form of Charcot-Marie-Tooth disease known as type 2A. Charcot-Marie-Tooth disease damages the peripheral nerves, which can result in ... MFN2 gene mutations that cause Charcot-Marie-Tooth disease change single protein building blocks (amino acids) in ...
- ... gene have been found to cause Dowling-Degos disease. This condition results in various skin abnormalities, including a characteristic ... Most KRT5 gene mutations that cause Dowling-Degos disease lead to the production of a keratin 5 ...
- ... onset form of the disorder (known as Best disease) or the adult-onset form. Both types of ... with vitelliform macular dystrophy. More About This Health Condition MedlinePlus Genetics provides information about Age-related macular ...
- ... gene have been found to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a buildup of fat within ... to movement problems, neurological impairment, lung and liver disease, and speech and feeding problems. Many of the ...
- ... the COL4A3 gene can cause Alport syndrome, a condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these ... COL4A3 gene can cause a form of the condition called autosomal dominant Alport syndrome. Individuals with this ...
- ... symptoms of metachromatic leukodystrophy. More About This Health Condition In a few individuals, mutations in the PSAP ... disorder that resembles a severe form of Gaucher disease. Signs and symptoms of this condition include neurological ...
- ... most cases of this disorder. This destructive lung disease is caused by the abnormal overgrowth of smooth ... or sporadic LAM) or in combination with a condition called tuberous sclerosis complex (described below). Researchers suggest ...
- ... and problems with movement. More About This Health Condition Several mutations in the MAPT gene have been ... genetic variation increases the risk of developing this disease.The features of progressive supranuclear palsy appear to ...
- ... a disorder called lymphangioleiomyomatosis (LAM). This destructive lung disease is characterized by the abnormal overgrowth of smooth ... or sporadic LAM) or in combination with a condition called tuberous sclerosis complex (described below). Researchers suggest ...
