| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00747
|
Thyrotoxic hypokalemic periodic paralysis
|
... orally, to prevent rebound hyperkalemia. Mutations have been identified in TPP patients in an inwardly rectifying potassium channel, , that is expressed in muscle and transcriptionally regulated by thyroid ...
|
Nervous system disease; Musculoskeletal disease
|
|
KCNJ18 [HSA:100134444] [KO:K05005]
|
|
H00748
|
Andersen-Tawil syndrome
|
... patients have loss-of-function mutations in the KCNJ2 gene, which encodes the voltage-gated inward rectifier potassium channel, Kir2.1. However, described KCNJ2 mutations only account for approximately ...
|
Congenital malformation
|
|
KCNJ2 [HSA:3759] [KO:K04996]
|
|
H02236
|
Keppen-Lubinsky syndrome
|
... reduced facial adipose tissue and thin facial skin combined with severe developmental delay and hypertonia. KPLBS is caused by mutations in KCNJ6, which encodes an inwardly rectifying potassium channel.
|
Inherited metabolic disorder
|
|
KCNJ6 [HSA:3763] [KO:K05000]
|