Table 3.
Partial list of oligogenic diseases (in which two, or a small number of, genes contribute in a major way to the phenotype).a
| Phenotype | Genes | Reference(s) |
|---|---|---|
| Bardet-Biedl syndrome “tri-allelic inheritance” | BBS2, BBS6 | (Katsanis et al., 2001) |
| Digenic inheritance (a review of 11 syndromes) | (2 genes each) | (Ming and Muenke, 2002) |
| Oligogenic inheritance (a review of 30 syndromes) | (2–4 genes each) | (Badano and Katsanis, 2002) |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | DAP12, TREM2 | (Paloneva et al., 2002) |
| Hirschsprung disease | (mutations in 8 genes) | (Carrasquillo et al., 2002) |
| Refsum disease | PHYH, PEX7 | (van den Brink et al., 2003; Jansen et al., 2004) |
| Bardet-Biedl syndrome | BBS1, BBS2, BBS6 | (Beales et al., 2003) |
| Cortisone reductase deficiency | HSD11B1, H6PDH | (Draper et al., 2003) |
| Holoprosencephaly | SHH, ZIC2, SIX3, TGIF | (Dubourg et al., 2004) |
| Polycystic ovary syndrome | HSD11B1, H6PDH | (San Millan et al., 2005) |
| Restless legs syndrome | BTBD9, MEIS1, MAP2K5, LBXCOR1 | (Mignot, 2007; Winkelmann et al., 2007) |
a
No new publications mentioning “tri-allelic digenic inheritance” have appeared since the 2005 paper. The term “oligogenic” has been used in several hundred publications, but the term now seems to be utilized quite loosely.