Table 1.
Human diseases associated with abnormal KIR channel function.
| Protein | Gene | Syndrome/Disease Character (OMIM)1 | Main Affected System(s) | Recent Review |
|---|---|---|---|---|
| KIR1.1 | KCNJ1 | Bartter syndrome, type 2 (241200) | Kidney; head; face; ear; eye; vascular; gastrointestinal; skeleton; skeletal muscle; CNS; platelets | [33] |
| KIR2.1 | KCNJ2 | Andersen syndrome (170390) Familial atrium fibrillation 9 (613980) Short QT syndrome 3 (609622) |
Head; face; ear; eye; teeth; heart; skeleton; CNS | [34,35] |
| KIR2.2 | KCNJ12 | Non-described | ||
| KIR2.3 | KCNJ4 | Non-described | ||
| KIR2.4 | KCNJ14 | Non-described | ||
| KIR2.6 | KCNJ18 | Thyrotoxic hypokalemic periodic paralysis (613239) | Cardiovascular; skeletal muscle; CNS; eye | [36] |
| KIR3.1 | KCNJ3 | Non-described | ||
| KIR3.2 | KCNJ6 | Keppen–Lubinsky Syndrome (614098) | CNS; head; skin; skeleton; eye, face | No review available |
| KIR3.3 | KCNJ9 | Non-described | ||
| KIR3.4 | KCNJ5 | Familial hyperaldosteronism 3 (613677) Long QT syndrome 13 (613485) |
Cardiovascular; kidney; skeletal muscle | [39,40] |
| KIR4.1 | KCNJ10 | Digenic enlarged vestibular aqueduct (600791) EAST/SESAME syndrome (612780) |
Ear (hearing); vascular; kidney; CNS | [41] |
| KIR4.2 | KCNJ15 | Non-described | ||
| KIR5.1 | KCNJ16 | Non-described | ||
| KIR6.1 | KCNJ8 | Cantú syndrome (239850) | Head; face; cardiovascular; skeleton; hair; CNS | [42] |
| KIR6.2 | KCNJ11 | Transient neonatal diabetes mellitus 3 (610582) Permanent neonatal diabetes with or without neurologic features (606176) Familial hyperinsulinemic hypoglycemia 2 (601820) Maturity-onset diabetes of the young 13 (616329) Susceptible to diabetes mellitus 2 (125853) |
Pancreas (beta-cells); CNS | [43] |
| KIR7.1 | KCNJ13 | Leber congenital amaurosis 16 (614186) Snowflake vitreoretinal degeneration (193230) |
Eye (retina) | [44] |
OMIM1: OMIM®—Online Mendelian Inheritance in Man® https://omim.org assessed on 24 July 2019, CNS, central neural system.