CACNA1A - calcium voltage-gated channel subunit alpha1 A Gene

Also Known as BI; EA2; FHM; MHP; APCA; HPCA; MHP1; SCA6; DEE42; CAV2.1; EIEE42; CACNL1A4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 773

About CACNA1A

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:13,206,442-13,506,479 (from NCBI)

This gene has 59 transcripts (splice variants), 284 orthologues, 26 paralogues and is associated with 12 phenotypes. Biased expression in brain (RPKM 5.1), stomach (RPKM 1.8) and 6 other tissues.

Summary

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the Others act as auxiliary subunits regulating this activity. The distinctive properties of the Calcium Channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]

CACNA1A Products (5)

mRNA	Protein	Name
NM_000068.4	NP_000059.3	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1
NM_001127221.2	NP_001120693.1	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 3
NM_001127222.2	NP_001120694.1	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 4
NM_001174080.2	NP_001167551.1	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 5
NM_023035.3	NP_075461.2	voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables high voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	21883149	GOA
enables high voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	23376566	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8692999	GOA
enables syntaxin binding	IDA IDA: Inferred from direct assay	8692999	GOA
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	10753886	GOA
enables voltage-gated calcium channel activity	IGI IGI: Inferred from genetic interaction	21883149	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	24836863	GOA
involved in cellular response to amyloid-beta	IDA IDA: Inferred from direct assay	21883149	GOA
involved in cellular response to amyloid-beta	IGI IGI: Inferred from genetic interaction	21883149	GOA
involved in modulation of chemical synaptic transmission	IDA IDA: Inferred from direct assay	23376566	GOA
involved in positive regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	10753886	GOA
involved in response to amyloid-beta	IDA IDA: Inferred from direct assay	18216187	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell projection	IDA IDA: Inferred from direct assay	16595610	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	16595610	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16595610	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16595610	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNA1A Protein Structure

Ion_trans

Ca_chan_IQ

0
400
800
1200
1600
2000
2400
2506 a.a.

Protein Preferred Names	Protein Names
voltage-dependent P/Q-type calcium channel subunit alpha-1A	brain calcium channel 1

CACNA1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CACNA1A	O00555	UQCRC2	Homo sapiens	P22695	Pull Down	21078624
Intra	CACNA1A	O00555	ADGRL1	Homo sapiens	O94910	Y2H	21078624
Intra	CACNA1A	O00555	ADGRL1	Homo sapiens	O94910	Pull Down	21078624
Intra	CACNA1A	O00555	CSNK2B	Homo sapiens	P67870	Y2H	21078624
Intra	CACNA1A	O00555	CSNK2B	Homo sapiens	P67870	Pull Down	21078624
Intra	CACNA1A	O00555	ABI1	Homo sapiens	Q8IZP0	Pull Down	21078624
Intra	CACNA1A	O00555	ABI1	Homo sapiens	Q8IZP0	Y2H	21078624
Intra	CACNA1A	O00555	AMIGO2	Homo sapiens	Q86SJ2	Pull Down	21078624
Intra	CACNA1A	O00555	ARHGAP22	Homo sapiens	Q7Z5H3	Y2H	21078624
Intra	CACNA1A	O00555	ARHGAP22	Homo sapiens	Q7Z5H3	Pull Down	21078624
Intra	CACNA1A	O00555	DNAJB5	Homo sapiens	O75953	Y2H	21078624
Intra	CACNA1A	O00555	TSPOAP1	Homo sapiens	O95153	Pull Down	21078624
Intra	CACNA1A	O00555	YLPM1	Homo sapiens	P49750	Pull Down	21078624
Intra	CACNA1A	O00555	HIVEP1	Homo sapiens	P15822	Y2H	21078624
Intra	CACNA1A	O00555	HIVEP1	Homo sapiens	P15822	Pull Down	21078624
Intra	CACNA1A	O00555	MEGF8	Homo sapiens	Q7Z7M0	Pull Down	21078624
Intra	CACNA1A	O00555	MEGF8	Homo sapiens	Q7Z7M0	Y2H	21078624
Intra	CACNA1A	O00555	LTBP4	Homo sapiens	Q8N2S1	Pull Down	21078624
Intra	CACNA1A	O00555	MATN2	Homo sapiens	O00339	Pull Down	21078624

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Episodic Ataxia, Type 2	Episodic Ataxia Type 2 EA2 Apca Capa Cerebellopathy, Hereditary Paroxysmal Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Episodic Ataxia With Nystagmus Ataxia, Episodic, With Nystagmus Episodic Ataxia, Nystagmus-Associated Ataxia, Familial Paroxysmal Acetazolamide-Responsive Episodic Ataxia Syndrome Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia Ataxia, Familial, Paroxysmal Nystagmus-Associated Episodic Ataxia Familial Paroxysmal Ataxia Episodic Ataxia 2 Ea-2 Episodic Ataxia Nystagmus-Associated Hereditary Paroxysmal Cerebellopathy Ataxia, Episodic, Type 2
Migraine, Familial Hemiplegic, 1	FHM1 Mhp1 Fhm Familial Hemiplegic Migraine 1 Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia Migraine, Hemiplegic, Familial, Type 1 Hemiplegic Migraine, Familial Type 1
Developmental And Epileptic Encephalopathy 42	DEE42 Epileptic Encephalopathy, Early Infantile, 42 Eiee42 Developmental And Epileptic Encephalopathy, 42 Early Infantile Epileptic Encephalopathy 42 Encephalopathy, Epileptic, Early Infantile, Type 42
Sporadic Hemiplegic Migraine	Non-Familial Hemiplegic Migraine Shm Migraine, Sporadic Hemiplegic Sporadic Hemiplegic Migraines
Benign Paroxysmal Torticollis Of Infancy
Developmental And Epileptic Encephalopathy 52	DEE52 Epileptic Encephalopathy, Early Infantile, 52 Eiee52 Developmental And Epileptic Encephalopathy, 52 Early Infantile Epileptic Encephalopathy 52
Familial Or Sporadic Hemiplegic Migraine
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Episodic Ataxia, Type 1	Episodic Ataxia Type 1 Episodic Ataxia/Myokymia Syndrome EA1 Episodic Ataxia With Myokymia Eam Ataxia, Episodic, With Myokymia Aem Paroxysmal Ataxia With Neuromyotonia, Hereditary Myokymia With Periodic Ataxia Episodic Ataxia 1 Aemk Ea-1 Paroxysmal Ataxia With Neuromyotonia Myokymia Isolated 1 MK1 Ataxia, Episodic, Type 1 Continuous Muscle Fiber Activity, Hereditary Isaacs Syndrome
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Spastic Paraparesis
Autosomal Dominant Cerebellar Ataxia Type Iii	Adca3 Adcaiii Autosomal Dominant Cerebellar Ataxia Type 3 Pure Cerebellar Syndrome-Mild Pyramidal Signs Syndrome Adca Iii
Machado-Joseph Disease	SCA3 MJD Spinocerebellar Ataxia 3 Azorean Disease Spinocerebellar Ataxia Type 3 Spinocerebellar Atrophy Azorean Neurologic Disease Spinopontine Atrophy Nigrospinodentatal Degeneration Spinocerebellar Atrophy Iii Spinocerebellar Atrophy Type 3 Azorean Ataxia Azorean Disease Of The Nervous System Machado Disease Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia Disease, Machado-Joseph Ataxia, Spinocerebellar
Cluster Headache	Headache, Cluster
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Cerebellar Degeneration
Hemiplegia	Infantile Hemiplegia Postnatal Infantile Hemiplegia Hemiplegia, Infantile
Primary Cerebellar Degeneration	Spinocerebellar Degenerations Cerebellar Degenerations, Primary Spinocerebellar Degeneration
Headache	Headache Disorder
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Migraine Without Aura	Common Migraine Migraine With Or Without Aura, Susceptibility To Migraine Without Aura, Susceptibility To Acute Migraine Without Aura
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Migraine, Familial Hemiplegic, 2	FHM2 Mhp2 Migraine, Familial Basilar Familial Hemiplegic Migraine 2 Familial Hemiplegic Migraine-2 Familiar Basilar Migraine Migraine, Hemiplegic, Familial, Type 2
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Central Nervous System Origin Vertigo	Vertigo Of Central Origin Vertigo Central Vestibular Vertigo
Spinocerebellar Ataxia 12	Spinocerebellar Ataxia Type 12 SCA12 Ataxia, Spinocerebellar, Type 12
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Trigeminal Neuralgia	Tic Douloureux Trifacial Neuralgia Trifocal Neuralgia Neuralgia Of The Fifth Cranial Nerve Neuralgia Of 5th Cranial Nerve Infraorbital Neuralgia
Spinocerebellar Ataxia 17	Spinocerebellar Ataxia Type 17 SCA17 Huntington Disease-Like 4 Hdl4 Olivopontocerebellar Atrophy V Cerebelloparenchymal Disorder Ii Opca5 Cpd2 Sca 17 Ataxia, Spinocerebellar, Type 17
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Torticollis	Contracture Of Neck Wry Neck Wry Neck/Torticollis
Migraine, Familial Hemiplegic, 3	FHM3 Familial Hemiplegic Migraine 3 Mhp3 Migraine, Hemiplegic, Familial, Type 3
Exfoliation Syndrome	Pseudoexfoliation Glaucoma Pseudoexfoliation Syndrome Exfoliation Syndrome, Susceptibility To XFS Exfoliation Glaucoma Xfg Pseudoexfoliation Of The Lens Pexg Pexs Exfoliative Syndrome Glaucoma Capsulare Pex Pseudo-Exfoliation Syndrome
Episodic Ataxia, Type 6	Episodic Ataxia Type 6 EA6 Episodic Ataxia 6 Ea-6 Ataxia, Episodic, Type 6
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Vestibular Nystagmus	Nystagmus Associated With Disorder Of The Vestibular System
Spinocerebellar Ataxia 14	Spinocerebellar Ataxia Type 14 SCA14 Ataxia, Spinocerebellar, Type 14
Episodic Ataxia, Type 5	Episodic Ataxia Type 5 EA5 Episodic Ataxia 5 Ea-5 Ataxia, Episodic, Type 5
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Spinocerebellar Ataxia 27	Spinocerebellar Ataxia Type 27 SCA27 Cerebellar Ataxia Autosomal Dominant Fgf14-Related Vestibulocerebellar Disorder With Predominant Ocular Signs Cerebellar Ataxia, Autosomal Dominant, Fgf14-Related Nystagmus 4, Congenital, Autosomal Dominant, Formerly Nys4, Formerly Ataxia, Spinocerebellar, Type 27
Episodic Ataxia, Type 7	Episodic Ataxia Type 7 EA7
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Syndrome Eaton-Lambert Syndrome Lems Lambert Eaton Myasthenic Syndrome Eaton Lambert Syndrome Lambert Eaton Syndrome Myasthenic Syndrome Of Lambert-Eaton Myasthenic-Myopathic Syndrome Of Lambert-Eaton Lems - [Lambert-Eaton Myasthenic Syndrome]
Spinocerebellar Ataxia 2	Spinocerebellar Ataxia Type 2 SCA2 Amyotrophic Lateral Sclerosis 13 Spinocerebellar Degeneration With Slow Eye Movements SDSEM Spinocerebellar Atrophy Ii Olivopontocerebellar Atrophy Ii Opca2 Cerebellar Degeneration With Slow Eye Movements Wadia-Swami Syndrome Amyotrophic Lateral Sclerosis Type 13 ALS13 Olivopontocerebellar Atrophy Holguin Type Spinocerebellar Ataxia Cuban Type Olivopontocerebellar Atrophy, Holguin Type Spinocerebellar Ataxia, Cuban Type Amyotrophic Lateral Sclerosis, Susceptibility To, 13 Olivopontocerebellar Atrophy 2 Sca 2 Spinocerebellar Ataxia With Slow Eye Movements Spinocerebellar Atrophy 2 Wadia Swami Syndrome Opca Ii Spinocerebellar Ataxia-2 Ataxia, Spinocerebellar, Type 2
Spinocerebellar Ataxia 31	Spinocerebellar Ataxia Type 31 SCA31 Spinocerebellar Ataxia 16q22-Linked Spinocerebellar Ataxia, 16q22-Linked Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Ataxia, Spinocerebellar, Type 31
Paraneoplastic Cerebellar Degeneration	Pcd Paraneoplastic Cerebellar Ataxia Rapidely Progressive Cerebellar Syndrome Subacute Cerebellar Degeneration
Episodic Ataxia, Type 3	Episodic Ataxia Type 3 EA3 Ataxia, Episodic, With Vertigo And Tinnitus Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Olivopontocerebellar Atrophy	Thomas Syndrome Olivopontocerebellar Atrophies Dejerine-Thomas Syndrome Thomas' Syndrome Wadia-Swami Syndrome Opca Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome Spinocerebellar Ataxia Type 2
Vertigo, Benign Recurrent	Benign Paroxysmal Positional Vertigo Bppv Vestibulopathy, Familial BRV Vertigo, Benign Paroxysmal Positional Benign Paroxysmal Positional Nystagmus Benign Recurrent Vertigo Familial Benign Recurrent Vertigo Familial Vestibulopathy Benign Paroxysmal Nystagmus Bppv - [Benign Positional Paroxysmal Vertigo]
Status Epilepticus	Grand Mal Status Epilepticus Grand Mal Status Gcse Generalized Convulsive Status Epilepticus Se Epilepsy With Status Epilepticus
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Restless Legs Syndrome	Wed Willis-Ekbom Disease Restless Leg Syndrome Ekbom Syndrome Wittmaack-Ekbom Syndrome Willis Ekbom Disease Ekbom'S Syndrome Rls Restless Legs Restless Legs Syndrome, Susceptibility To
Sotos Syndrome 2	Sotos2 Sotos Syndrome, Type 2
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Cowden Syndrome 5	CWS5 Cowden Syndrome, Type 5
Episodic Ataxia, Type 4	Episodic Ataxia Type 4 Periodic Vestibulocerebellar Ataxia Patx EA4 Ataxia, Periodic Vestibulocerebellar
Marshall-Smith Syndrome	MRSHSS Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome Mss
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Spinocerebellar Ataxia 18	Spinocerebellar Ataxia Type 18 SCA18 Smna Sensorimotor Neuropathy With Ataxia, Autosomal Dominant Sensorimotor Neuropathy With Ataxia Autosomal Dominant
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Childhood Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 47	DEE47 Epileptic Encephalopathy, Early Infantile, 47 Eiee47 Developmental And Epileptic Encephalopathy, 47 Early Infantile Epileptic Encephalopathy 47
Cerebellar Ataxia Type 48	Sca48
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Brain Small Vessel Disease 1	Col4a1-Related Brain Small Vessel Disease With Hemorrhage Col4a1-Related Familial Vascular Leukoencephalopathy Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy Brain Small Vessel Disease With Axenfeld-Riegar Anomaly Brain Small Vessel Disease With Hemorrhage Brain Small Vessel Disease With Or Without Ocular Anomalies Bsvd1 Infantile Hemiparesis Leukoencephalopathy With Axenfeld-Riegar Anomaly
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Hemidystonia
Vestibulocochlear Nerve Disease	Vestibulocochlear Nerve Diseases Acoustic Nerve Disease Cochlear Nerve Diseases Disturbance Of Vestibulocochlear Nerve Auditory Nerve Disorder Disorder Of Acoustovestibular Nerve Disorder Of Eighth Nerve Eighth Cranial Nerve Disorder Disease Of Eighth Cranial Nerve Disease Of Acoustic Nerve Disease Of Auditory Nerve Disorder Of 8th Cranial Nerve Auditory Nerve Lesion Cochlear Nerve Disorder
Vestibular Neuronitis	Vestibular Neuritis Epidemic Neurolabyrinthitis
Internuclear Ophthalmoplegia	Ophthalmoplegia Internuclearis Bielschowsky-Lutz-Cogan Syndrome Ino - [Internuclear Ophthalmoplegia] Lhermitte Syndrome Mlf - [Medial Longitudinal Fasciculus] Syndrome Internuclear Paralysis
Autosomal Recessive Cerebellar Ataxia	Arca
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Aoa1 Ataxia-Telangiectasia-Like Disorder EAOH Eoca-Ha Ataxia With Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia 1 Ataxia-Oculomotor Apraxia Syndrome AOA Ataxia-Telangiectasia-Like Syndrome Ataxia-Oculomotor Apraxia Type 1 Ataxia With Oculomotor Apraxia Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia Early-Onset Cerebellar Ataxia With Hypoalbuminemia Adult Onset Ataxia With Oculomotor Apraxia Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia Scan2 Scar1 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Atld Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia Cerebellar Ataxia Early-Onset With Hypoalbuminemia Ataxia-Oculomotor Apraxia Spinocerebellar Ataxia, Autosomal Recessive 1
Developmental And Epileptic Encephalopathy 21	DEE21 Epileptic Encephalopathy, Early Infantile, 21 Eiee21 Developmental And Epileptic Encephalopathy, 21 Early Infantile Epileptic Encephalopathy 21 Encephalopathy, Epileptic, Early Infantile, Type 21
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 8	Arca1 Autosomal Recessive Cerebellar Ataxia Type 1 SCAR8 Autosomal Recessive Spinocerebellar Ataxia 8 Autosomal Recessive Ataxia, Beauce Type Recessive Ataxia Of Beauce Syne1-Related Autosomal Recessive Cerebellar Ataxia Ataxia, Recessive, Of Beauce Cerebellar Ataxia, Autosomal Recessive, Type 1 Spinocerebellar Ataxia Autosomal Recessive 8 Autosomal Recessive Ataxia Beauce Type Spinocerebellar Ataxia, Autosomal Recessive, 8 Ataxia Recessive Of Beauce Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
Episodic Ataxia, Type 8	Episodic Ataxia Type 8 EA8 Episodic Ataxia With Slurred Speech
Phacogenic Glaucoma
Focal Dystonia	Dystonia, Focal, Task-Specific
Peripheral Vertigo	Vertigo, Peripheral
Spinocerebellar Ataxia, Autosomal Recessive 14	Autosomal Recessive Spinocerebellar Ataxia 14 SCAR14 Sparca1 Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur Autosomal Recessive Spinocerebellar Ataxia Type 14 Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome Sparca Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 Spinocerebellar Ataxia, Autosomal Recessive, 14 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1 Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
Adolescence-Adult Electroclinical Syndrome
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
Spinocerebellar Ataxia 40	Spinocerebellar Ataxia Type 40 SCA40 Ataxia, Spinocerebellar, Type 40
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Paroxysmal Extreme Pain Disorder	PEPD Familial Rectal Pain Pexpd Submandibular, Ocular, And Rectal Pain With Flushing Pain, Submandibular, Ocular, And Rectal, With Flushing Rectal Pain, Familial Submandibular, Ocular And Rectal Pain With Flushing Familial Rectal Syndrome Frp Pain Disorder, Paroxysmal, Extreme
Multiple System Atrophy 1	Multiple System Atrophy Shy-Drager Syndrome Msa MSA1 Multiple System Atrophy 1, Susceptibility To Sporadic Olivopontocerebellar Atrophy Multisystem Atrophy Msa1, Susceptibility To Multiple System Atrophy, Susceptibility To Opca Progressive Autonomic Failure With Multiple System Atrophy Sds
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Neonatal Period Electroclinical Syndrome
Spinocerebellar Ataxia 38	Spinocerebellar Ataxia Type 38 SCA38 Ataxia, Spinocerebellar, Type 38
Fleck Retina, Familial Benign	FRFB Familial Benign Flecked Retina Familial Benign Fleck Retina
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Aoa2 Ataxia With Oculomotor Apraxia Type 2 Scar1 SCAN2 Ataxia-Oculomotor Apraxia 2 Ataxia-Ocular Apraxia 2 Ataxia-Oculomotor Apraxia Type 2 Scan 2 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly Scar1, Formerly Autosomal Recessive Spinocerebellar Ataxia-1 Spinocerebellar Ataxia, Autosomal Recessive, 1 Ataxia-Ocular Apraxia-2 Spinocerebellar Ataxia, Autosomal Recessive 1
Retinal Arteries, Tortuosity Of	Retinal Arterial Tortuosity Retinal Hemorrhage With Vascular Tortuosity RATOR Tortuosity Of Retinal Arteries Retinal Arteriolar Tortuosity Familial Isolated Retinal Arterial Tortuosity Tortuosity, Arteries, Retinal
Spinocerebellar Ataxia, Autosomal Recessive 17	Autosomal Recessive Spinocerebellar Ataxia 17 SCAR17 Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 17 Spinocerebellar Ataxia, Autosomal Recessive, 17 Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Choreatic Disease	Chorea Hereditary Chorea
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	CADASIL2 Cadasil 2 Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2 Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease Htra1-Related Autosomal Dominant Cerebral Angiopathy Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2 Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
Movement Disease	Movement Disorders Movement Disorder
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Fragile X-Associated Tremor/Ataxia Syndrome	Fxtas Syndrome Fragile X Tremor/Ataxia Syndrome Fxtas
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia Type 8 SCA8 Ataxia, Spinocerebellar, Type 8
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Spastic Ataxia	Spax Ataxia, Spastic
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01791	CACNA1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21232	Cacna1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27749	Cacna1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CACNA1A	VGNC	VGNC:26672
Felis catus	CACNA1A	VGNC	VGNC:60293
Macaca mulatta	CACNA1A	VGNC	VGNC:70498
Rattus norvegicus	CACNA1A	RGD	RGD:2244
Mus musculus	CACNA1A	MGD	MGI:109482
Canis familiaris	CACNA1A	VGNC	VGNC:38631
Others	CACNA1A	NCBI