| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Myotonia congenita , dominant (Thomsen) - (AD) | 7.1 | | | Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
|
|
|  | * Myotonia recessive - CLC1 | | * Myotonia congenita, autosomal dominant, Thomsen disease - THD | | * Myotonia congenita, autosomal recessive, Becker disease - MCR |
|
| Myotonia, recessive (Becker) - (AR) | 7.2 | | | Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
|
|
| | * Myotonia recessive - CLC1 | | * Myotonia congenita, autosomal dominant, Thomsen disease - THD | | * Myotonia congenita, autosomal recessive, Becker disease - MCR |
|
| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Hyperkalemic periodic paralysis - (AD) | 7.3 | | | Sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Myotonia potassium-aggravatd | | * Sodium-channel myasthenia | | * Myasthenic syndrome, acetazolamide-responsive | | * Myasthenic syndrome, congenital, 16 - CMS16 | | * Severe foetal hypokinesia related to SCN4A | | * Congenital Myopathy 22B, severe fetal - CMYP22B | | * Congenital Myopathy 22A, classic - CMYP22A | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia |
|
| Hypokalemic periodic paralysis type 2 - (AD) | 7.4 | | | Sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Myotonia potassium-aggravatd | | * Sodium-channel myasthenia | | * Myasthenic syndrome, acetazolamide-responsive | | * Myasthenic syndrome, congenital, 16 - CMS16 | | * Severe foetal hypokinesia related to SCN4A | | * Congenital Myopathy 22B, severe fetal - CMYP22B | | * Congenital Myopathy 22A, classic - CMYP22A | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia |
|
| Hypokalaemic periodic paralysis - (AD) | 7.5 | | | ATPase, NA+/K+ transporting alpha-2 polypeptide
|
|
| | * Hypokalaemic periodic paralysis |
|
| Paramyotonia congenita - (AD) | 7.6 | | | Sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Myotonia potassium-aggravatd | | * Sodium-channel myasthenia | | * Myasthenic syndrome, acetazolamide-responsive | | * Myasthenic syndrome, congenital, 16 - CMS16 | | * Severe foetal hypokinesia related to SCN4A | | * Congenital Myopathy 22B, severe fetal - CMYP22B | | * Congenital Myopathy 22A, classic - CMYP22A | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia |
|
| Potassium aggravated myotonia - (AD) | 7.7 | | | Sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Myotonia potassium-aggravatd | | * Sodium-channel myasthenia | | * Myasthenic syndrome, acetazolamide-responsive | | * Myasthenic syndrome, congenital, 16 - CMS16 | | * Severe foetal hypokinesia related to SCN4A | | * Congenital Myopathy 22B, severe fetal - CMYP22B | | * Congenital Myopathy 22A, classic - CMYP22A | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia |
|
| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Hypokalaemic periodic paralysis type 1 - (AD) | 7.8 | | | Calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
| | * Hypokalemic periodic paralysis - CACNL1A3 | | * Congenital myopathy with ophthalmoplegia related to CACNA1S | | * Malignant hyperthermia susceptibility 5 - MHS5 | | * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 |
|
| Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD) | 7.9 | | | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
| | * Spinocerebellar ataxia 6 - SCA6 | | * Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA | | * Cerebellar ataxia, pure - CACNA1A | | * Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA | | * Episodic ataxia, type 2 - EA2 |
|
| Episodic ataxia type-2 - (AD) | 7.10 | | | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
| | * Spinocerebellar ataxia 6 - SCA6 | | * Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA | | * Cerebellar ataxia, pure - CACNA1A | | * Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA | | * Episodic ataxia, type 2 - EA2 |
|
| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Hypokalemic periodic paralysis - (AD) | 7.11 | | | Potassium voltage-gated channel, Isk-related family, member 3
|
|
| | * Brugada syndrome 6 - BRGDA6 | | * Hypokalaemic periodic paralysis - HOKPP |
|
| Episodic ataxia/myokymia syndrome - (AD) | 7.12 | | | Potassium voltage-gated channel, shaker-related subfamily, member 1
|
|
| | * Episodic ataxia with myokymia - EA1 |
|
| Thyrotoxic hypokalemic periodic paralysis | 7.13 | | | Kir2.6 (inwardly rectifying potassium channel 2.6)
|
|
| | * Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 |
|
Periodic paralysis, potassium sensitive cardiodysrythmic (Andersen’s syndrome)
see LQ7 under hereditary cardiomyopathies (group 10B, online only) | 7.14 | - | | - |
Long QT syndromes
see under hereditary cardiomyopathies (group 10B, online only) | 7.15 | - | | - |
