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GENATLAS PHENOTYPE

last update : 15-06-2011

Symbol	HSANDHL
Location	19p13.2
Name	hereditary sensory and autonomic neuropathy with dementia and hearing loss
Other name(s)	hereditary sensory and autonomic neuropathy type 1
Other symbol(s)	HSAN1
Main clinical features	neurodegeneration with loss of sensation leading to painless extremities injuries , infections and resultant amputations, early onset dementia and sensorineural hearing loss, PMID: 21532572
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function	within the targeting-sequence domain of DNMT1

Remark(s)