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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.
- Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Childhood
- ICD-10: I99
- OMIM: 611773
- UMLS: C2673195
- MeSH: -
- GARD: 10889
- MedDRA: -
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.
- Clinical genetics review
- English (2016)