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autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.
Mondo Term and Equivalent IDs
MONDO:0012726:  autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
GARD:0010889: 
MESH:C567088: 
Orphanet:73229: 
SCTID:702428000: 
UMLS:C2673195: