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GENATLAS PHENOTYPE

last update : 07-01-2009

Symbol	CMT4D
Location	8q24.22
Name	Charcot-Marie-tooth disease, type 4D
Other name(s)	Charcot-Marie-tooth neuropathy, type 4D
Corresponding gene	NDRG1
Other symbol(s)	HMSNL, HMSN4D
Main clinical features	hereditary motor and sensory neuropathy, demyelinating, Lom Gypsy kindred, with early onset, presenting with muscle weakness and wasting, tendon areflexia, skeletal and foot deformities, sensory loss, severely decreased nerve conduction velocities, sensory neural deafness and upper limb weakness in the second or third decade, neve biopsy showing demyelination and remyelination associated with axonal involvement at IRM, subcortical white matter abnormalities
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	N-myc downstream regulated gene 1

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		truncated protein

Remark(s)

truncating mutations