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MCID: ALT001
MIFTS: 51

Alternating Hemiplegia of Childhood

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Alternating Hemiplegia of Childhood

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MalaCards integrated aliases for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 12 77 54 26 60 38 30 13 6 45 15 74
Ahc 12 54 60
Alternating Hemiplegia Syndrome 54 26
Alternating Hemiplegia 54 55
Hemiplegia, Alternating, of Childhood 41
Hemiplegia, Crossed 74

Characteristics:

Orphanet epidemiological data:

60
alternating hemiplegia of childhood
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Denmark); Age of onset: Infancy; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050635
KEGG 38 H00998
MeSH 45 C536589
ICD10 34 G98
MESH via Orphanet 46 C536589
ICD10 via Orphanet 35 G98
UMLS via Orphanet 75 C0338488
Orphanet 60 ORPHA2131
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Summaries for Alternating Hemiplegia of Childhood

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NINDS : 55 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 Glycerol and Sodium oxybate have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, 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 : 26 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 : 54 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 : 77 Alternating hemiplegia of childhood is an ultra-rare neurological disorder named for the transient... more...

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Related Diseases for Alternating Hemiplegia of Childhood

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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 52)
# Related Disease Score Top Affiliating Genes
1 adrenal hypoplasia, congenital 33.5 GK NR0B1 NR5A1
2 familial hemiplegic migraine 32.7 ATP1A2 ATP1A3 CACNA1A CALCA
3 episodic ataxia, type 6 32.4 CACNA1A SLC1A3
4 chromosome xp21 deletion syndrome 32.1 GK NR0B1
5 hemiplegia 31.0 ADCY5 ATP1A2 ATP1A3 CACNA1A CALCA SLC1A3
6 hemiplegic migraine 30.5 ATP1A2 ATP1A3 CACNA1A CALCA SLC2A1
7 alternating hemiplegia of childhood 2 12.9
8 alternating hemiplegia of childhood 1 12.9
9 benign nocturnal alternating hemiplegia of childhood 12.6
10 medial medullary syndrome 11.5
11 hemiplegia alterans 11.4
12 weber syndrome 11.2
13 conjunctivitis 10.5
14 acute hemorrhagic conjunctivitis 10.5
15 sporadic hemiplegic migraine 10.4 ATP1A2 CACNA1A
16 familial or sporadic hemiplegic migraine 10.4 ATP1A2 CACNA1A
17 angiokeratoma circumscriptum 10.3 MMP9 SLC2A1
18 burn scar 10.3 CALCA TAC1
19 episodic ataxia 10.3 ATP1A2 CACNA1A SLC1A3
20 diabetic foot ulcers 10.3 CALCA MMP9
21 dystonia 10.3
22 vasomotor rhinitis 10.3 CALCA TAC1
23 headache 10.3 ATP1A2 CACNA1A TAC1
24 46,xy partial gonadal dysgenesis 10.2 NR0B1 NR5A1
25 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2 GK NR0B1
26 amyloidosis 10.2
27 adrenal cortical hypofunction 10.2 GK NR0B1 NR5A1
28 visual epilepsy 10.1 ATP1A3 SLC2A1 TANGO2
29 aceruloplasminemia 10.1 ATP1A3 CACNA1A SLC2A1
30 46,xx sex reversal 1 10.1 NR0B1 NR5A1
31 gonadal disease 10.1 GNRHR NR0B1 NR5A1
32 epilepsy 10.1
33 migraine with or without aura 1 10.0 ATP1A2 CACNA1A CALCA SLC1A3 TAC1
34 lymphangiectasia, pulmonary, congenital 10.0
35 46,xy sex reversal 2 10.0
36 dermatitis 10.0
37 glucose transporter type 1 deficiency syndrome 10.0
38 cluster headache 10.0 CACNA1A CALCA
39 dystonia 12 9.9
40 kearns-sayre syndrome 9.9
41 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 9.9
42 glut1 deficiency syndrome 2 9.9
43 focal epilepsy 9.9
44 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 9.9
45 hypotonia 9.9
46 infantile hypotonia 9.9
47 seizure disorder 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
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Symptoms & Phenotypes for Alternating Hemiplegia of Childhood

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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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 ADCY5 ATP1A2 ATP1A3 CACNA1A FXYD6 MMP9
2 homeostasis/metabolism MP:0005376 9.77 ADCY5 ATP11A ATP1A2 ATP1A3 CACNA1A GNRHR
3 nervous system MP:0003631 9.32 ATP11A ATP1A2 ATP1A3 CACNA1A MMP9 NR5A1
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Drugs & Therapeutics for Alternating Hemiplegia of Childhood

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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
Glycerol Approved, Investigational Phase 2 56-81-5 753
2
Sodium oxybate Approved Phase 1, Phase 2 502-85-2 5360545
3 Protective Agents Phase 2
4 Anesthetics, Intravenous Phase 1, Phase 2
5 Central Nervous System Depressants Phase 1, Phase 2
6 Anesthetics Phase 1, Phase 2
7 Adjuvants, Anesthesia Phase 1, Phase 2
8 Anesthetics, General Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood Unknown status NCT02408354 Phase 2 Triheptanoin;Placebo
2 Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO) Completed NCT00931164 Phase 1, Phase 2 Sodium Oxybate
3 Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders Recruiting NCT00682513
4 Natural History Study of ATP1A3-related Disease Active, not recruiting NCT03857607

Search NIH Clinical Center for Alternating Hemiplegia of Childhood

Cochrane evidence based reviews: alternating hemiplegia of childhood

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Genetic Tests for Alternating Hemiplegia of Childhood

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Genetic tests related to Alternating Hemiplegia of Childhood:

# Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood 30
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Anatomical Context for Alternating Hemiplegia of Childhood

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MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

42
Eye, Testes, Brain, Kidney, Liver, Skeletal Muscle, Cortex
Sources

Publications for Alternating Hemiplegia of Childhood

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Articles related to Alternating Hemiplegia of Childhood:

(show top 50) (show all 187)
# Title Authors Year
1
Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood. ( 30362107 )
2019
2
Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood. ( 30621840 )
2019
3
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition. ( 30650451 )
2019
4
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing. ( 30657467 )
2019
5
Alternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option. ( 30834869 )
2019
6
ATP1A3 mosaicism in families with alternating hemiplegia of childhood. ( 30891744 )
2019
7
An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole. ( 30893129 )
2019
8
Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics. ( 30548852 )
2018
9
Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome. ( 30562231 )
2018
10
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene. ( 29269014 )
2018
11
Recurrent Focal Seizures and Transient Hemiparesis: Think About Alternating Hemiplegia of Childhood. ( 29395725 )
2018
12
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. ( 29567111 )
2018
13
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. ( 29967203 )
2018
14
Novel E815K knock-in mouse model of alternating hemiplegia of childhood. ( 30071271 )
2018
15
Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal. ( 30194039 )
2018
16
[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood]. ( 30392204 )
2018
17
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. ( 27931826 )
2017
18
Alternating Hemiplegia of Childhood with Novel Features. ( 28138908 )
2017
19
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. ( 28249736 )
2017
20
Diagnosis and Treatment of Alternating Hemiplegia of Childhood. ( 28337648 )
2017
21
Topiramate Therapy in Alternating Hemiplegia of Childhood. ( 28502069 )
2017
22
Motor function domains in alternating hemiplegia of childhood. ( 28543714 )
2017
23
Challenges describing motor profiles in alternating hemiplegia of childhood. ( 28556907 )
2017
24
Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations. ( 28637637 )
2017
25
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. ( 28716275 )
2017
26
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome. ( 28900444 )
2017
27
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood. ( 28969699 )
2017
28
Alternating hemiplegia of childhood: Clinical case and video description. ( 29620090 )
2017
29
Progressive Brain Atrophy in Alternating Hemiplegia of Childhood. ( 30363489 )
2017
30
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. ( 26463346 )
2016
31
Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study. ( 26999520 )
2016
32
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation. ( 27146299 )
2016
33
Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood. ( 27276195 )
2016
34
Recognizable facial features in patients with alternating hemiplegia of childhood. ( 27312461 )
2016
35
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. ( 27634470 )
2016
36
Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy. ( 28163531 )
2016
37
Meeting the Challenge of Chronic Conditions in a Sustainable Manner: Building on the AHC Learning. ( 27009644 )
2016
38
[Characteristic asymmetric abnormal eye movement and dystonic posture as the first symptoms of alternating hemiplegia of childhood]. ( 27149744 )
2016
39
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. ( 24532324 )
2015
40
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. ( 24824604 )
2015
41
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. ( 25447930 )
2015
42
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. ( 25523819 )
2015
43
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment? ( 25662428 )
2015
44
A functional correlate of severity in alternating hemiplegia of childhood. ( 25681536 )
2015
45
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 25996915 )
2015
46
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. ( 26297560 )
2015
47
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 26322789 )
2015
48
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. ( 26410222 )
2015
49
CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH. ( 26464492 )
2015
50
[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood]. ( 26758322 )
2015
Sources

Variations for Alternating Hemiplegia of Childhood

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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_152296.5(ATP1A3): c.154-5C> G single nucleotide variant Benign/Likely benign rs191645384 GRCh37 Chromosome 19, 42492296: 42492296
50 ATP1A3 NM_152296.5(ATP1A3): c.154-5C> G single nucleotide variant Benign/Likely benign rs191645384 GRCh38 Chromosome 19, 41988144: 41988144
Sources

Expression for Alternating Hemiplegia of Childhood

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

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Pathways related to Alternating Hemiplegia of Childhood according to KEGG:

38
# 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

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

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 67
Show member pathways
 12.93 ADCY5 ATP11A ATP1A2 ATP1A3 FXYD6 SLC1A3
2
Aldosterone synthesis and secretion 38
Show member pathways
 12.3 ADCY5 ATP1A2 ATP1A3 NR0B1 NR5A1 SLC2A1
3
Ion channel transport 67
Show member pathways
 12.16 ATP11A ATP1A2 ATP1A3 FXYD6
4
Synaptic vesicle cycle 38
Show member pathways
 11.69 ATP1A2 CACNA1A SLC1A3
5
Thyroid hormone signaling pathway 38
11.67 ATP1A2 ATP1A3 SLC2A1
6
Pancreatic secretion 38
11.49 ADCY5 ATP1A2 ATP1A3
7
Lung fibrosis 1
11.13 ATP11A CALCA MMP9
8
Proximal tubule bicarbonate reclamation 38
10.82 ATP1A2 ATP1A3
9
Bile secretion 38
10.78 ADCY5 ATP1A2 ATP1A3 SLC2A1
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GO Terms for Alternating Hemiplegia of Childhood

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase complex GO:0005890 8.96 ATP1A2 ATP1A3
2 neuronal cell body GO:0043025 8.92 ATP1A3 CACNA1A SLC1A3 TAC1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.95 ATP1A2 ATP1A3 CACNA1A FXYD6 SLC1A3
2 adrenal gland development GO:0030325 9.56 NR0B1 NR5A1
3 cellular sodium ion homeostasis GO:0006883 9.54 ATP1A2 ATP1A3
4 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.52 ATP1A2 ATP1A3
5 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.51 ATP1A2 ATP1A3
6 regulation of blood pressure GO:0008217 9.5 ATP1A2 CALCA TAC1
7 cellular potassium ion homeostasis GO:0030007 9.49 ATP1A2 ATP1A3
8 cellular response to steroid hormone stimulus GO:0071383 9.48 ATP1A2 ATP1A3
9 male sex determination GO:0030238 9.46 NR0B1 NR5A1
10 positive regulation of cytosolic calcium ion concentration GO:0007204 9.46 ADCY5 CACNA1A CALCA TAC1
11 sodium ion export across plasma membrane GO:0036376 9.43 ATP1A2 ATP1A3
12 neuromuscular process controlling balance GO:0050885 9.43 ADCY5 CACNA1A SLC1A3
13 neurotransmitter uptake GO:0001504 9.4 ATP1A2 SLC1A3
14 sex determination GO:0007530 9.37 NR0B1 NR5A1
15 response to glycoside GO:1903416 8.96 ATP1A2 ATP1A3
16 response to pain GO:0048265 8.62 CACNA1A TAC1

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
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Sources for Alternating Hemiplegia of Childhood

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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