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Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Synonym(s) HANAC syndrome
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
  • I99
MeSH -
MedDRA -


Disease definition

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.


It has been described in three members from four generations of one family.

Clinical description

In contrast to other forms of familial hematuria, no glomerular abnormalities were observed in these patients and basal membrane thickness was normal. Expression of type IV collagen chains was also normal.

Genetic counseling

The mode of transmission is autosomal dominant.

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Detailed information

Clinical genetics review
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