| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00745
|
Hyperkalemic periodic paralysis
|
... gain-of-function mutations in the alpha-subunit of the skeletal muscle voltage-gated sodium channel, Nav1.4. However, 20% of cases remain genetically undefined, suggesting genetic heterogeneity. HYPP is ...
|
Nervous system disease; Musculoskeletal disease
|
|
(HYPP) SCN4A [HSA:6329] [KO:K04837]
|
|
H00771
|
Inherited erythromelalgia
Primary erythromelalgia
|
... has been largely ineffective, and partial relief of symptoms comes from cooling the affected extremities. Dominantly inherited gain-of-function mutations in SCN9A, the gene encoding Nav1.7, cause IEM.
|
Skin disease
|
|
SCN9A [HSA:6335] [KO:K04841]
|
|
H00772
|
Paroxysmal extreme pain disorder
|
... dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7. Severe pain in PEPD patients along with flushing is induced ...
|
Nervous system disease
|
|
SCN9A [HSA:6335] [KO:K04841]
|
|
H00774
|
Congenital insensitivity to pain
|
... condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP present with a history of not ever experiencing ...
|
Nervous system disease
|
|
(CIP) SCN9A [HSA:6335] [KO:K04841]
(MARSIS) ZFHX2 [HSA:85446] [KO:K09379]
|