Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 235400 (trait) , 609814 (trait) , 134370 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2002

Cross-species summary: A progressive inflammation of the capillary loops in the glomeruli of the kidney, in which the glomeruli become enlarged as a result of proliferation of mesangial cells and irregular thickening of the capillary walls, due to massive glomeruli deposits of complement component C3 and the terminal C5b-C9 complement complex.

Species-specific name: Porcine dense deposit disease; Hereditary factor H deficiency

Species-specific symbol: MPGN II

Species-specific description: In pigs, this disorder is due to a deficiency of complement factor H, a protein whose task is to restrict the formation of C3 convertase. The hypermetabolism of the excess C3 results in deposits of complement in the kidneys, and in hypocomplementaemia.

Inheritance: From matings designed to investigate the inheritance of this disorder, Jansen et al. (1995) obtained convincing evidence of autosomal recessive inheritance.

Molecular basis: By cloning and sequencing a very likely candidate gene (based on knowledge that the disorder is due to deficiency of Factor H), Hegasy et al. (2002) discovered that the molecular basis for this disorder is a missense mutation (T3610G) in the gene for factor H, resulting in an I1166R amino-acid substitution. [FN 13 Jan 2003; 21 Sep 2012]

Associated gene: