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Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

Orpha number ORPHA73229
Synonym(s) HANAC syndrome
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • H35.0
  • R31
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This 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. 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. The mode of transmission is autosomal dominant.


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Detailed information

Clinical genetics review
  • EN (2011)
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