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GENATLAS PHENOTYPE

last update : 20-10-2015

Symbol	HSAN2A
Location	12p13.33
Name	hereditary sensory and autonomic neuropathy, type IIA
Other name(s)	acroosteolysis, neurogenic acroosteolysis Giaccai type Morvan disease neuropathy progressive sensory, of children
Corresponding gene	WNK1
Main clinical features	with impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons distal and proximal sensory loss that is caused by the reduction or absence of peripheral sensory nerves
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	hereditary sensory neuropathy, type II gene

Remark(s)

Genotype/Phenotype correlations

truncation of the HSN2 protein associated with an early childhood onset of a predominantly sensoryneuropathy, complicated by acromutilations in both upper and lower limbs