OMIA 000636-9823 : Membranoproliferative glomerulonephritis type II in Sus scrofa |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
235400 (trait)
,
609814 (trait)
,
134370 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal
Considered a defect:
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:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CFH | complement factor H | Sus scrofa | NW_018085100.1 (2468667..2570975) | CFH | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 177 | Membranoproliferative glomerulonephritis type II | CFH | missense | Naturally occurring variant | Sscrofa11.1 | 10 | c.3610T>G | p.(I1166R) | CFH is located on Chr10 in Sscrofa10.2 g.2553907T>G, but recorded as 'unplaced/NW_018085100.1' in Sscrofa11.1. | 2002 | 12466119 | The genomic location on Sscrofa11.1 was determined by Stephanie Shields (27/05/2020) |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2011 | Vezzali, E., Manno, R.A., Salerno, D., Oberto, G., Nyska, A., Ramot, Y. : | |
| Spontaneous glomerulonephritis in Göttingen minipigs. Toxicol Pathol 39:700-5, 2011. Pubmed reference: 21628719. DOI: 10.1177/0192623311406930. | ||
| 2002 | Hegasy, G.A., Manuelian, T., Hogasen, K., Jansen, J.H., Zipfel, P.F. : | |
| The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II - Point mutations in the factor H coding sequence block protein secretion American Journal of Pathology 161:2027-2034, 2002. Pubmed reference: 12466119. DOI: 10.1016/S0002-9440(10)64481-1. | ||
| 1998 | Jansen, J.H., Hogasen, K., Harboe, M., Hovig, T. : | |
| In situ complement activation in porcine membranoproliferative glomerulonephritis type II Kidney International 53:331-349, 1998. Pubmed reference: 9461093. DOI: 10.1046/j.1523-1755.1998.00765.x. | ||
| 1997 | Hogasen, K., Jansen, J.H., Harboe, M. : | |
| Eradication of porcine factor H deficiency in Norway Veterinary Record 140:392-395, 1997. Pubmed reference: 9141221. | ||
| 1995 | Hogasen, K., Jansen, J.H., Mollnes, T.E., Hovdenes, J., Harboe, M. : | |
| Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency Journal of Clinical Investigation 95:1054-1061, 1995. Pubmed reference: 7883953. DOI: 10.1172/JCI117751. | ||
| Jansen, J.H., Hogasen, K., Grondahl, A.M. : | ||
| Porcine membranoproliferative glomerulonephritis type II - an autosomal recessive deficiency of factor H Veterinary Record 137:240-244, 1995. Pubmed reference: 8533215. | ||
| 1993 | Jansen, J.H. : | |
| Porcine membranoproliferative glomerulonephritis with intramembranous dense deposits (porcine dense deposit disease) APMIS 101:281-189, 1993. Pubmed reference: 8323737. | ||
| Jansen, J.H., Hogasen, K., Mollnes, T.E. : | ||
| Extensive Complement Activation in Hereditary Porcine Membranoproliferative Glomerulonephritis Type-II (Porcine Dense Deposit Disease) American Journal of Pathology 143:1356-1365, 1993. Pubmed reference: 8238252. |
Edit History
- Created by Frank Nicholas on 01 Dec 2009
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012