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GENATLAS PHENOTYPE

last update : 06-11-2017

Symbol	HANAC
Location	13q34
Name	hereditary angiopathy with nephropathy, aneurysms and muscle cramps
Corresponding gene	COL4A1
Main clinical features	hematuria associated with extrarenal manifestations, association of renal involvement, retinal arterial tortuosities, and muscular contractures retinal arterial tortuosities were present bilaterally, associated with episodes of superficial intraretinal hemorrhages with transient visual impairment which resolved spontaneously, without visual sequelae; muscle contractures were painful and paroxysmal
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
	cardiovascular
	neuromuscular
Type	disease

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