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GENATLAS PHENOTYPE

last update : 22-01-2010

Symbol	TSD
Location	15q23
Name	Tay-Sachs disease
Other name(s)	GM2-gangliosidosis, type I B variant GM2 gangliosidosis hexosaminidase a deficiency
Corresponding gene	HEXA
Other symbol(s)	HEXA
Main clinical features	infantile form is usually fatal by age 2 or 3 years, juvenile, adult types, progressive neurodegenerative disorder progressive neurological deterioration, mainly affecting cognitive, motor and spinocerebellar functions
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	hexosaminidase A, alpha polypeptide (HEXA)

Remark(s)