AHC
MCID: ALT001
MIFTS: 51

Alternating Hemiplegia of Childhood (AHC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood

MalaCards integrated aliases for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 12 76 53 25 59 37 29 13 6 44 15 73
Ahc 12 53 59
Alternating Hemiplegia Syndrome 53 25
Alternating Hemiplegia 53 54
Hemiplegia, Alternating, of Childhood 40
Hemiplegia, Crossed 73

Characteristics:

Orphanet epidemiological data:

59
alternating hemiplegia of childhood
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Denmark); Age of onset: Infancy; Age of death: any age;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050635
ICD10 33 G98
MeSH 44 C536589
Orphanet 59 ORPHA2131
MESH via Orphanet 45 C536589
UMLS via Orphanet 74 C0338488
ICD10 via Orphanet 34 G98
KEGG 37 H00998

Summaries for Alternating Hemiplegia of Childhood

NINDS : 54 Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Oftentimes these episodes will resolve after sleep. Affected children may also have abnormal movements involving stiffening or "dance-like" movements of a limb, as well as walking and balance problems. Some children have seizures. Children may have normal or delayed development. There are both benign and more serious forms of the disorder. Alternating hemiplegia is primarily caused by mutations in the ATP1A3 gene. Occasionally, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. Mutations in these genes reduce the activity of an enzyme called Na+/K+ ATPase, which affects the signals that control muscle movement. However, it not yet clear how the reduced enzyme activity leads to the symptoms of the disorder.

MalaCards based summary : Alternating Hemiplegia of Childhood, also known as ahc, is related to adrenal hypoplasia, congenital and familial hemiplegic migraine, and has symptoms including hemiplegia, hemiplegia, flaccid and hemiplegia, transient. An important gene associated with Alternating Hemiplegia of Childhood is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are Aldosterone-regulated sodium reabsorption and Endocrine and other factor-regulated calcium reabsorption. The drugs Sodium oxybate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.

Genetics Home Reference : 25 Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.

NIH Rare Diseases : 53 Alternating hemiplegia of childhood (AHC) is a neurological disorder that usually affects children before 18 months of age. Classic AHC causes recurrent episodes of paralysis (hemiplegia) that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. A characteristic feature of AHC is that symptoms disappear during sleep and return upon waking. Many affected children display some degree of developmental delay, abnormal eye (oculomotor) movements, uncontrolled limb movements (including ataxia, dystonia, and choreoathetosis) and seizures.   The majority of cases of AHC are caused by a new change (called a mutation or pathogenic variant) in the ATP1A3 gene that is not inherited. Thus, most patients with AHC do not have a family history of the disorder. A small number of cases of AHC are caused by changes in the ATP1A2 gene. When this condition does run in families, it follows an autosomal dominant pattern of inheritance.Treatment is limited to therapies that can help reduce the severity and duration of symptoms. 

Wikipedia : 76 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder often caused by a mutation in... more...

Related Diseases for Alternating Hemiplegia of Childhood

Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 1 Alternating Hemiplegia of Childhood 2

Diseases related to Alternating Hemiplegia of Childhood via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 adrenal hypoplasia, congenital 33.3 GK NR0B1 NR5A1
2 familial hemiplegic migraine 32.5 ATP1A2 ATP1A3 CACNA1A CALCA
3 episodic ataxia, type 6 32.1 CACNA1A SLC1A3
4 chromosome xp21 deletion syndrome 31.9 CNR2 GK NR0B1
5 hemiplegia 31.2 ADCY5 ATP1A2 ATP1A3 CACNA1A CALCA SLC1A3
6 hemiplegic migraine 30.5 ATP1A2 ATP1A3 CACNA1A CALCA SLC2A1
7 alternating hemiplegia of childhood 2 12.8
8 alternating hemiplegia of childhood 1 12.8
9 benign nocturnal alternating hemiplegia of childhood 12.6
10 medial medullary syndrome 11.4
11 hemiplegia alterans 11.3
12 weber syndrome 11.2
13 conjunctivitis 10.5
14 acute hemorrhagic conjunctivitis 10.5
15 dystonia 10.3
16 sporadic hemiplegic migraine 10.3 ATP1A2 CACNA1A
17 familial or sporadic hemiplegic migraine 10.3 ATP1A2 CACNA1A
18 angiokeratoma circumscriptum 10.2 MMP9 SLC2A1
19 burn scar 10.2 CALCA TAC1
20 headache 10.2 ATP1A2 CACNA1A TAC1
21 episodic ataxia 10.2 ATP1A2 CACNA1A SLC1A3
22 diabetic foot ulcers 10.1 CALCA MMP9
23 amyloidosis 10.1
24 vasomotor rhinitis 10.1 CALCA TAC1
25 anorchia 10.1 NR5A1 SRY
26 adrenal cortical hypofunction 10.1 GK NR0B1 NR5A1
27 46,xy partial gonadal dysgenesis 10.1 NR0B1 NR5A1 SRY
28 gonadal dysgenesis 10.1 NR0B1 NR5A1 SRY
29 46,xx sex reversal 1 10.1 NR0B1 NR5A1 SRY
30 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.1 GK NR0B1
31 46 xy gonadal dysgenesis 10.1 NR0B1 NR5A1 SRY
32 glycerol kinase deficiency 10.1 CNR2 GK NR0B1
33 lipoid congenital adrenal hyperplasia 10.1 NR0B1 NR5A1 SRY
34 epilepsy 10.1
35 aceruloplasminemia 10.0 ATP1A3 CACNA1A SLC2A1
36 cluster headache 10.0 CACNA1A CALCA
37 46,xy sex reversal 2 10.0
38 dermatitis 10.0
39 glucose transporter type 1 deficiency syndrome 10.0
40 cryptorchidism, unilateral or bilateral 10.0 GNRHR NR5A1 SRY
41 migraine with or without aura 1 10.0 ATP1A2 ATP1A3 CACNA1A CALCA SLC1A3 TAC1
42 gonadal disease 9.9 GNRHR NR0B1 NR5A1 SRY
43 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 9.9
44 focal epilepsy 9.9
45 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 9.9
46 hypotonia 9.9
47 infantile hypotonia 9.9
48 encephalopathy 9.9
49 kallmann syndrome 9.9 GNRHR NR0B1 NR5A1 PROP1
50 moyamoya disease 1 9.8

Graphical network of the top 20 diseases related to Alternating Hemiplegia of Childhood:



Diseases related to Alternating Hemiplegia of Childhood

Symptoms & Phenotypes for Alternating Hemiplegia of Childhood

UMLS symptoms related to Alternating Hemiplegia of Childhood:


hemiplegia, hemiplegia, flaccid, hemiplegia, transient, hemiplegia, post-ictal

MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ADCY5 ATP1A2 ATP1A3 CACNA1A MMP9 NR5A1
2 homeostasis/metabolism MP:0005376 9.4 ADCY5 ATP1A2 ATP1A3 CACNA1A GNRHR MMP9

Drugs & Therapeutics for Alternating Hemiplegia of Childhood

Drugs for Alternating Hemiplegia of Childhood (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium oxybate Approved Phase 1, Phase 2 502-85-2 5360545
2
Glycerol Approved, Investigational Phase 2 56-81-5 753
3 Anesthetics, Intravenous Phase 1, Phase 2
4 Anesthetics Phase 1, Phase 2
5 Central Nervous System Depressants Phase 1, Phase 2
6 Adjuvants, Anesthesia Phase 1, Phase 2
7 Anesthetics, General Phase 1, Phase 2
8 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO) Completed NCT00931164 Phase 1, Phase 2 Sodium Oxybate
2 Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood Active, not recruiting NCT02408354 Phase 2 Triheptanoin;Placebo
3 Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders Recruiting NCT00682513

Search NIH Clinical Center for Alternating Hemiplegia of Childhood

Cochrane evidence based reviews: alternating hemiplegia of childhood

Genetic Tests for Alternating Hemiplegia of Childhood

Genetic tests related to Alternating Hemiplegia of Childhood:

# Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood 29

Anatomical Context for Alternating Hemiplegia of Childhood

MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

41
Eye, Brain, Testes, Skeletal Muscle, Cortex, Liver

Publications for Alternating Hemiplegia of Childhood

Articles related to Alternating Hemiplegia of Childhood:

(show top 50) (show all 164)
# Title Authors Year
1
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene. ( 29269014 )
2018
2
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. ( 29567111 )
2018
3
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. ( 29967203 )
2018
4
Novel E815K knock-in mouse model of alternating hemiplegia of childhood. ( 30071271 )
2018
5
Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal. ( 30194039 )
2018
6
Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood. ( 30362107 )
2018
7
Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics. ( 30548852 )
2018
8
Diagnosis and Treatment of Alternating Hemiplegia of Childhood. ( 28337648 )
2017
9
Topiramate Therapy in Alternating Hemiplegia of Childhood. ( 28502069 )
2017
10
Recurrent Focal Seizures and Transient Hemiparesis: Think About Alternating Hemiplegia of Childhood. ( 29395725 )
2017
11
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. ( 28249736 )
2017
12
Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations. ( 28637637 )
2017
13
Alternating Hemiplegia of Childhood with Novel Features. ( 28138908 )
2017
14
Challenges describing motor profiles in alternating hemiplegia of childhood. ( 28556907 )
2017
15
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood. ( 28969699 )
2017
16
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. ( 28716275 )
2017
17
Alternating hemiplegia of childhood: Clinical case and video description. ( 29620090 )
2017
18
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome. ( 28900444 )
2017
19
Motor function domains in alternating hemiplegia of childhood. ( 28543714 )
2017
20
Progressive Brain Atrophy in Alternating Hemiplegia of Childhood. ( 30363489 )
2017
21
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation. ( 27146299 )
2016
22
[Characteristic asymmetric abnormal eye movement and dystonic posture as the first symptoms of alternating hemiplegia of childhood]. ( 27149744 )
2016
23
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. ( 27931826 )
2016
24
Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study. ( 26999520 )
2016
25
Recognizable facial features in patients with alternating hemiplegia of childhood. ( 27312461 )
2016
26
Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood. ( 27276195 )
2016
27
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. ( 27634470 )
2016
28
Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy. ( 28163531 )
2016
29
Meeting the Challenge of Chronic Conditions in a Sustainable Manner: Building on the AHC Learning. ( 27009644 )
2016
30
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 26322789 )
2015
31
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? ( 25662428 )
2015
32
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. ( 26463346 )
2015
33
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. ( 26410222 )
2015
34
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 25996915 )
2015
35
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. ( 25523819 )
2015
36
[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood]. ( 26758322 )
2015
37
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. ( 25447930 )
2015
38
A functional correlate of severity in alternating hemiplegia of childhood. ( 25681536 )
2015
39
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. ( 24532324 )
2015
40
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. ( 26297560 )
2015
41
CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH. ( 26464492 )
2015
42
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. ( 25056583 )
2014
43
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. ( 24824604 )
2014
44
Genotype-phenotype correlations in alternating hemiplegia of childhood. ( 24431296 )
2014
45
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. ( 24768197 )
2014
46
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. ( 24842602 )
2014
47
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. ( 24631656 )
2014
48
Alternating hemiplegia of childhood: new diagnostic options. ( 24821639 )
2014
49
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. ( 24996492 )
2014
50
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. ( 25439493 )
2014

Variations for Alternating Hemiplegia of Childhood

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood:

6 (show top 50) (show all 272)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.1119G> A (p.Ser373=) single nucleotide variant Benign rs1063125 GRCh37 Chromosome 1, 160098543: 160098543
2 ATP1A2 NM_000702.3(ATP1A2): c.1119G> A (p.Ser373=) single nucleotide variant Benign rs1063125 GRCh38 Chromosome 1, 160128753: 160128753
3 ATP1A2 NM_000702.3(ATP1A2): c.1704C> T (p.Phe568=) single nucleotide variant Benign/Likely benign rs17846714 GRCh37 Chromosome 1, 160100264: 160100264
4 ATP1A2 NM_000702.3(ATP1A2): c.1704C> T (p.Phe568=) single nucleotide variant Benign/Likely benign rs17846714 GRCh38 Chromosome 1, 160130474: 160130474
5 ATP1A2 NM_000702.3(ATP1A2): c.1980C> T (p.Cys660=) single nucleotide variant Benign/Likely benign rs61734529 GRCh37 Chromosome 1, 160104950: 160104950
6 ATP1A2 NM_000702.3(ATP1A2): c.1980C> T (p.Cys660=) single nucleotide variant Benign/Likely benign rs61734529 GRCh38 Chromosome 1, 160135160: 160135160
7 ATP1A2 NM_000702.3(ATP1A2): c.2259C> T (p.Ala753=) single nucleotide variant Benign/Likely benign rs17846715 GRCh37 Chromosome 1, 160105367: 160105367
8 ATP1A2 NM_000702.3(ATP1A2): c.2259C> T (p.Ala753=) single nucleotide variant Benign/Likely benign rs17846715 GRCh38 Chromosome 1, 160135577: 160135577
9 ATP1A2 NM_000702.3(ATP1A2): c.2563+4C> T single nucleotide variant Benign/Likely benign rs3747626 GRCh37 Chromosome 1, 160106164: 160106164
10 ATP1A2 NM_000702.3(ATP1A2): c.2563+4C> T single nucleotide variant Benign/Likely benign rs3747626 GRCh38 Chromosome 1, 160136374: 160136374
11 ATP1A2 NM_000702.3(ATP1A2): c.2961C> T (p.Cys987=) single nucleotide variant Benign/Likely benign rs74123254 GRCh37 Chromosome 1, 160109701: 160109701
12 ATP1A2 NM_000702.3(ATP1A2): c.2961C> T (p.Cys987=) single nucleotide variant Benign/Likely benign rs74123254 GRCh38 Chromosome 1, 160139911: 160139911
13 ATP1A2 NM_000702.3(ATP1A2): c.1652-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200102433 GRCh37 Chromosome 1, 160100205: 160100205
14 ATP1A2 NM_000702.3(ATP1A2): c.1652-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200102433 GRCh38 Chromosome 1, 160130415: 160130415
15 ATP1A2 NM_000702.3(ATP1A2): c.2943-15C> T single nucleotide variant Benign/Likely benign rs111510835 GRCh37 Chromosome 1, 160109668: 160109668
16 ATP1A2 NM_000702.3(ATP1A2): c.2943-15C> T single nucleotide variant Benign/Likely benign rs111510835 GRCh38 Chromosome 1, 160139878: 160139878
17 ATP1A2 NM_000702.3(ATP1A2): c.-48C> G single nucleotide variant Benign/Likely benign rs41265761 GRCh37 Chromosome 1, 160085604: 160085604
18 ATP1A2 NM_000702.3(ATP1A2): c.-48C> G single nucleotide variant Benign/Likely benign rs41265761 GRCh38 Chromosome 1, 160115814: 160115814
19 ATP1A3 NM_152296.4(ATP1A3): c.1323G> A (p.Ala441=) single nucleotide variant Conflicting interpretations of pathogenicity rs34578730 GRCh37 Chromosome 19, 42485768: 42485768
20 ATP1A3 NM_152296.4(ATP1A3): c.1323G> A (p.Ala441=) single nucleotide variant Conflicting interpretations of pathogenicity rs34578730 GRCh38 Chromosome 19, 41981616: 41981616
21 ATP1A3 NM_152296.4(ATP1A3): c.2319T> C (p.Asn773=) single nucleotide variant Benign/Likely benign rs61733017 GRCh37 Chromosome 19, 42474639: 42474639
22 ATP1A3 NM_152296.4(ATP1A3): c.2319T> C (p.Asn773=) single nucleotide variant Benign/Likely benign rs61733017 GRCh38 Chromosome 19, 41970487: 41970487
23 ATP1A3 NM_152296.4(ATP1A3): c.666T> G (p.Thr222=) single nucleotide variant Benign/Likely benign rs2217342 GRCh37 Chromosome 19, 42489516: 42489516
24 ATP1A3 NM_152296.4(ATP1A3): c.666T> G (p.Thr222=) single nucleotide variant Benign/Likely benign rs2217342 GRCh38 Chromosome 19, 41985364: 41985364
25 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh37 Chromosome 1, 160090685: 160090688
26 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh38 Chromosome 1, 160120895: 160120898
27 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh37 Chromosome 1, 160100226: 160100226
28 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh38 Chromosome 1, 160130436: 160130436
29 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh37 Chromosome 1, 160106732: 160106732
30 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh38 Chromosome 1, 160136942: 160136942
31 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh37 Chromosome 1, 160093019: 160093019
32 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh38 Chromosome 1, 160123229: 160123229
33 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh37 Chromosome 1, 160090708: 160090708
34 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh38 Chromosome 1, 160120918: 160120918
35 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh37 Chromosome 1, 160093071: 160093071
36 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh38 Chromosome 1, 160123281: 160123281
37 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh37 Chromosome 1, 160098516: 160098516
38 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh38 Chromosome 1, 160128726: 160128726
39 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh37 Chromosome 1, 160099904: 160099904
40 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh38 Chromosome 1, 160130114: 160130114
41 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh37 Chromosome 1, 160100381: 160100381
42 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh38 Chromosome 1, 160130591: 160130591
43 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh37 Chromosome 1, 160109466: 160109466
44 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh38 Chromosome 1, 160139676: 160139676
45 ATP1A2 NM_000702.3(ATP1A2): c.1652-11C> G single nucleotide variant Benign/Likely benign rs17846713 GRCh37 Chromosome 1, 160100201: 160100201
46 ATP1A2 NM_000702.3(ATP1A2): c.1652-11C> G single nucleotide variant Benign/Likely benign rs17846713 GRCh38 Chromosome 1, 160130411: 160130411
47 ATP1A2 NM_000702.3(ATP1A2): c.3034+14C> T single nucleotide variant Benign/Likely benign rs41288127 GRCh37 Chromosome 1, 160109788: 160109788
48 ATP1A2 NM_000702.3(ATP1A2): c.3034+14C> T single nucleotide variant Benign/Likely benign rs41288127 GRCh38 Chromosome 1, 160139998: 160139998
49 ATP1A3 NM_152296.4(ATP1A3): c.154-5C> G single nucleotide variant Benign/Likely benign rs191645384 GRCh37 Chromosome 19, 42492296: 42492296
50 ATP1A3 NM_152296.4(ATP1A3): c.154-5C> G single nucleotide variant Benign/Likely benign rs191645384 GRCh38 Chromosome 19, 41988144: 41988144

Expression for Alternating Hemiplegia of Childhood

Search GEO for disease gene expression data for Alternating Hemiplegia of Childhood.

Pathways for Alternating Hemiplegia of Childhood

Pathways related to Alternating Hemiplegia of Childhood according to KEGG:

37
# Name Kegg Source Accession
1 Aldosterone-regulated sodium reabsorption hsa04960
2 Endocrine and other factor-regulated calcium reabsorption hsa04961
3 Proximal tubule bicarbonate reclamation hsa04964

GO Terms for Alternating Hemiplegia of Childhood

Cellular components related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.1 ATP1A3 CACNA1A CALCA CNR2 SLC1A3 TAC1
2 sodium:potassium-exchanging ATPase complex GO:0005890 8.96 ATP1A2 ATP1A3

Biological processes related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 ATP1A2 ATP1A3 CACNA1A FXYD6-FXYD2 SLC1A3
2 adrenal gland development GO:0030325 9.57 NR0B1 NR5A1
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.56 ADCY5 CACNA1A CALCA TAC1
4 cellular sodium ion homeostasis GO:0006883 9.55 ATP1A2 ATP1A3
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.54 ATP1A2 ATP1A3
6 regulation of blood pressure GO:0008217 9.54 ATP1A2 CALCA TAC1
7 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.52 ATP1A2 ATP1A3
8 cellular potassium ion homeostasis GO:0030007 9.51 ATP1A2 ATP1A3
9 neuromuscular process controlling balance GO:0050885 9.5 ADCY5 CACNA1A SLC1A3
10 cellular response to steroid hormone stimulus GO:0071383 9.49 ATP1A2 ATP1A3
11 sodium ion export across plasma membrane GO:0036376 9.48 ATP1A2 ATP1A3
12 neurotransmitter uptake GO:0001504 9.46 ATP1A2 SLC1A3
13 positive regulation of male gonad development GO:2000020 9.43 NR5A1 SRY
14 sex determination GO:0007530 9.4 NR0B1 NR5A1
15 response to glycoside GO:1903416 9.16 ATP1A2 ATP1A3
16 response to pain GO:0048265 9.13 CACNA1A CALCA TAC1
17 male sex determination GO:0030238 8.8 NR0B1 NR5A1 SRY

Molecular functions related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP1A2 ATP1A3
2 steroid hormone binding GO:1990239 8.62 ATP1A2 ATP1A3

Sources for Alternating Hemiplegia of Childhood

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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