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قالب
:
Channelopathy
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عدل
v
t
e
مرض وراثي
, membrane:
Channelopathy
Calcium channel
Voltage-gated
CACNA1A
(
Familial hemiplegic migraine 1
,
Episodic ataxia 2
,
Spinocerebellar ataxia type-6
) •
CACNA1C
(
Timothy syndrome
,
Brugada syndrome 3
,
Long QT syndrome 8
) •
CACNA1F
(
Ocular albinism 2
,
CSNB2A
) •
CACNA1S
(
Hypokalemic periodic paralysis 1
,
Thyrotoxic periodic paralysis 1
) •
CACNB2
(
Brugada syndrome 4
)
Ligand gated
RYR1
(
Malignant hyperthermia
,
Central core disease
) •
RYR2
(
CPVT1
,
ARVD2
)
Sodium channel
Voltage-gated
SCN1A
(
Familial hemiplegic migraine 3
,
GEFS+ 2
,
Febrile seizure 3A
) •
SCN1B
(
Brugada syndrome 6
,
GEFS+ 1
) •
SCN4A
(
Hypokalemic periodic paralysis 2
,
Hyperkalemic periodic paralysis
,
Paramyotonia congenita
,
Potassium-aggravated myotonia
) •
SCN4B
(
Long QT syndrome 10
) •
SCN5A
(
Brugada syndrome 1
,
Long QT syndrome 3
) •
SCN9A
(
Erythromelalgia
,
Febrile seizure 3B
,
Paroxysmal extreme pain disorder
,
Congenital insensitivity to pain
)
Constitutively active
SCNN1B
/
SCNN1G
(
Liddle's syndrome
) •
SCNN1A
/
SCNN1B
/
SCNN1G
(
Pseudohypoaldosteronism 1AR
)
Potassium channel
Voltage-gated
KCNA1
(
Episodic ataxia 1
) •
KCNA5
(
Familial atrial fibrillation 7
) •
KCNC3
(
Spinocerebellar ataxia type-13
) •
KCNE1
(
Jervell and Lange-Nielsen syndrome
,
Long QT syndrome 5
) •
KCNE2
(
Long QT syndrome 6
) •
KCNE3
(
Brugada syndrome 5
) •
KCNH2
(
Short QT syndrome
) •
KCNQ1
(
Jervell and Lange-Nielsen syndrome
,
Romano-Ward syndrome
,
Short QT syndrome
,
Long QT syndrome 1
,
Familial atrial fibrillation 3
) •
KCNQ2
(
BFNS1
}
Inward-rectifier
KCNJ1
(
Bartter syndrome 2
) •
KCNJ2
(
Andersen-Tawil syndrome
,
Long QT syndrome 7
,
Short QT syndrome
) •
KCNJ11
(
TNDM3
) •
KCNJ18
(
Thyrotoxic periodic paralysis 2
)
Chloride channel
CFTR
(
Cystic fibrosis
,
Congenital absence of the vas deferens
) •
CLCN1
(
Thomsen disease
,
Myotonia congenita
) •
CLCN5
(
Dent's disease
) •
CLCN7
(
Osteopetrosis A2, B4
•
BEST1
(
Vitelliform macular dystrophy
) •
CLCNKB
(
Bartter syndrome 3
)
TRP channel
TRPC6
(
FSGS2
) •
TRPML1
(
Mucolipidosis type IV
)
Connexin
GJA1
(
Oculodentodigital dysplasia
,
Hallermann–Streiff syndrome
,
Hypoplastic left heart syndrome
) •
GJB1
(
Charcot–Marie–Tooth disease X1
) •
GJB2
(
Keratitis–ichthyosis–deafness syndrome
,
Ichthyosis hystrix
,
Bart–Pumphrey syndrome
,
Vohwinkel syndrome
) •
GJB3
/
GJB4
(
Erythrokeratodermia variabilis
,
Progressive symmetric erythrokeratodermia
) •
GJB6
(
Clouston's hidrotic ectodermal dysplasia
)
Porin
AQP2
(
Nephrogenic diabetes insipidus 2
)
see also
ion channels
ب
بنيوية (
پروكسي
,
skel
,
cili
,
متق
,
نوا
,
sclr
) • تخليق دنا/رنا/پروتين (
دنسخ
,
trfc
,
tscr
,
tltn
) • غشاء (
icha
,
slcr
,
atpa
,
abct
,
othr
) • transduction (
iter
,
csrc
,
itra
),
trfk