Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function is normal. Heterozygous mutations in COL4A3 or COL4A4 lead to reduced collagen network levels in the basement membrane.
Category
Urinary system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
Diseases of the urinary system
Glomerular diseases
GB4Y Other specified glomerular diseases
H00582 Benign familial hematuria
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00582 Benign familial hematuria
Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R
Title
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
