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Achromatopsia
Achromatopsia, is a medical syndrome that exhibits symptoms relating to at least five separate individual disorders.
Achromatopsia, is a medical syndrome that exhibits symptoms relating to at least five separate individual disorders.
Andersen-Tawil syndrome
Andersen–Tawil syndrome. also called Andersen syndrome and Long QT syndrome 7 is a form of long QT syndrome.
Andersen–Tawil syndrome. also called Andersen syndrome and Long QT syndrome 7 is a form of long QT syndrome.
Andersen–Tawil syndrome
Andersen–Tawil syndrome. also called Andersen syndrome and Long QT syndrome 7 is a form of long QT syndrome.
Andersen–Tawil syndrome. also called Andersen syndrome and Long QT syndrome 7 is a form of long QT syndrome.
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy is a rare epileptic disorder that causes frequent violent seizures during sleep.
Autosomal dominant nocturnal frontal lobe epilepsy is a rare epileptic disorder that causes frequent violent seizures during sleep.
Autosomal dominant polycystic kidney
Autosomal dominant polycystic kidney disease ("ADPKD", "autosomal dominant PKD" or "Adult-onset PKD") is an inherited systemic disorder that predominantly affects the kidneys, but may affect oth...
Autosomal dominant polycystic kidney disease ("ADPKD", "autosomal dominant PKD" or "Adult-onset PKD") is an inherited systemic disorder that predominantly affects the kidneys, but may affect oth...
Bartter syndrome
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle.
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle.
Benign familial neonatal convulsions
Benign familial neonatal convulsions (BFNC) aka Benign familial neonatal seizures (BFNS) is a rare autosomal dominant inherited form of epilepsy.
Benign familial neonatal convulsions (BFNC) aka Benign familial neonatal seizures (BFNS) is a rare autosomal dominant inherited form of epilepsy.
Benign familial neonatal epilepsy
Benign familial neonatal epilepsy is a rare autosomal dominant inherited form of epilepsy.
Benign familial neonatal epilepsy is a rare autosomal dominant inherited form of epilepsy.
Brugada syndrome
The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Calciumopathy
A calciumopathy is a disease caused by disruption to the use of calcium within a cell.
A calciumopathy is a disease caused by disruption to the use of calcium within a cell.
Channelome
The channelome, sometimes "ion channelome", is an expression used to describe the complete set of ion channels expressed in a biological tissue or organism.
The channelome, sometimes "ion channelome", is an expression used to describe the complete set of ion channels expressed in a biological tissue or organism.
Channelopathy
Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.
Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.
Childhood absence epilepsy
Childhood absence epilepsy (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which occurs in otherwise normal children.
Childhood absence epilepsy (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which occurs in otherwise normal children.
Congenital hyperinsulinism
Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion.
Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion.
Congenital insensitivity to pain
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions where a person cannot feel (and has never felt) physical pain.
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions where a person cannot feel (and has never felt) physical pain.
Cystic fibrosis
Cystic fibrosis is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Cystic fibrosis is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Dent's disease
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules of the kidney.
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules of the kidney.
Episodic ataxia
Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement).
Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement).
Erythromelalgia
Erythromelalgia, also known as Mitchell's disease, acromelalgia, red neuralgia, or erythermalgia, is a rare neurovascular peripheral pain disorder in which blood vessels,...
Erythromelalgia, also known as Mitchell's disease, acromelalgia, red neuralgia, or erythermalgia, is a rare neurovascular peripheral pain disorder in which blood vessels,...
Familial atrial fibrillation
Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm.
Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm.
Familial hemiplegic migraine
Familial hemiplegic migraine (FHM) is an autosomal dominant classical migraine subtype that typically includes hemiparesis (weakness of half the body) during the aura phase.
Familial hemiplegic migraine (FHM) is an autosomal dominant classical migraine subtype that typically includes hemiparesis (weakness of half the body) during the aura phase.
Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis is a cause of nephrotic syndrome in children and adolescents, as well as an important cause of kidney failure in adults.
Focal segmental glomerulosclerosis is a cause of nephrotic syndrome in children and adolescents, as well as an important cause of kidney failure in adults.
Generalized epilepsy with febrile seizures plus
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where afflicted individuals can exhibit numerous epilepsy phenotypes.
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where afflicted individuals can exhibit numerous epilepsy phenotypes.
Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis is a genetic disorder which occurs in both humans and horses, where it is also known as Impressive Syndrome.
Hyperkalemic periodic paralysis is a genetic disorder which occurs in both humans and horses, where it is also known as Impressive Syndrome.
Hypokalemic periodic paralysis
Hypokalemic periodic paralysis is a rare channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood.
Hypokalemic periodic paralysis is a rare channelopathy characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood.
Hypokalemic sensory overstimulation
Hypokalemic sensory overstimulation is a form of attention deficit hyperactivity disorder that has several similarities to disorders of ion channels, in particular to the muscle disorder hypokal...
Hypokalemic sensory overstimulation is a form of attention deficit hyperactivity disorder that has several similarities to disorders of ion channels, in particular to the muscle disorder hypokal...
Hypomagnesemia with secondary hypocalcemia
Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting intestinal magnesium absorption.
Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting intestinal magnesium absorption.
Juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic generalized epilepsy, representing 5-10% of all epilepsies.
Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic generalized epilepsy, representing 5-10% of all epilepsies.
Long QT syndrome
The long QT syndrome is a rare inborn heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes.
The long QT syndrome is a rare inborn heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes.
Maculopathy
A maculopathy is any pathological condition of the macula, an area at the centre of the retina that is associated with highly sensitive, accurate vision.
A maculopathy is any pathological condition of the macula, an area at the centre of the retina that is associated with highly sensitive, accurate vision.
Malignant hyperthermia
Malignant hyperthermia (MH) or malignant hyperpyrexia is a rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia; specifi...
Malignant hyperthermia (MH) or malignant hyperpyrexia is a rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia; specifi...
Mucolipidosis type IV
Mucolipidosis type IV (ML IV) is an autosomal recessive lysosomal storage disorder.
Mucolipidosis type IV (ML IV) is an autosomal recessive lysosomal storage disorder.
Myotonia congenita
Congenital myotonia is a genetic, neuromuscular channelopathy that affects skeletal muscles.
Congenital myotonia is a genetic, neuromuscular channelopathy that affects skeletal muscles.
Nonsyndromic deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms.
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms.
Paramyotonia congenita
Paramyotonia Congenita (PC), also known as Paramyotonia congenita of von Eulenburg or Eulenburg disease, is a rare congenital autosomal dominant neuromuscular disorder characterized ...
Paramyotonia Congenita (PC), also known as Paramyotonia congenita of von Eulenburg or Eulenburg disease, is a rare congenital autosomal dominant neuromuscular disorder characterized ...
Paroxysmal extreme pain disorder
Paroxysmal extreme pain disorder, originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well...
Paroxysmal extreme pain disorder, originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well...
Periodic paralysis
Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis (rarely death) from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or e...
Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis (rarely death) from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or e...
Potassium-aggravated myotonia
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle.
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle.
Retinitis pigmentosa
Retinitis pigmentosa is a group of genetic eye conditions that can lead to complete blindness.
Retinitis pigmentosa is a group of genetic eye conditions that can lead to complete blindness.
Rolandic epilepsy
In neurology and pediatrics, benign rolandic epilepsy or benign epilepsy with centrotemporal spikes is the most common epilepsy syndrome in childhood.
In neurology and pediatrics, benign rolandic epilepsy or benign epilepsy with centrotemporal spikes is the most common epilepsy syndrome in childhood.
Romano-Ward syndrome
Romano-Ward syndrome, is the major variant of long QT syndrome.
Romano-Ward syndrome, is the major variant of long QT syndrome.
Short QT syndrome
Short QT syndrome is a genetic disease of the electrical system of the heart.
Short QT syndrome is a genetic disease of the electrical system of the heart.
Spinocerebellar ataxia type-13
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs ...
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs ...
Spinocerebellar ataxia type-6
Spinocerebellar ataxia type 6 is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, incontinence, peripheral n...
Spinocerebellar ataxia type 6 is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, incontinence, peripheral n...
Thomsen disease
Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction.
Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction.
Timothy syndrome
Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythm...
Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythm...
X-linked congenital stationary night blindness
X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal disorder.
X-linked congenital stationary night blindness (CSNB) is a rare X-linked non-progressive retinal disorder.