AHC1
MCID: ALT001
MIFTS: 50

Alternating Hemiplegia of Childhood (AHC1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 49NINDS, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 52 11 48 24 25 54 27 12 13 68
Alternating Hemiplegia of Childhood 1 70 27 68
Ahc 11 48 54
Alternating Hemiplegia Syndrome 48 25
 
Alternating Hemiplegia 48 49
Hemiplegia, Crossed 68
Ahc1 70

Characteristics:

Orphanet epidemiological data:

54
alternating hemiplegia of childhood:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Denmark); Age of onset: Infancy; Age of death: any age

HPO:

64
alternating hemiplegia of childhood:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 104290
Disease Ontology11 DOID:0050635
ICD1030 G98
Orphanet54 ORPHA2131
MESH via Orphanet40 C536589
UMLS via Orphanet69 C0338488
ICD10 via Orphanet31 G98
MeSH39 D006429

Summaries for Alternating Hemiplegia of Childhood

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NIH Rare Diseases:48 Alternating hemiplegia of childhood (ahc) is a severe disorder affecting the neurological system of children usually 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. symptoms disappear during sleep and return upon waking. the majority of affected children display some degree of developmental delay, abnormal eye (oculomotor) movements, uncontrolled limb movements (including ataxia, dystonia, and choreoathetosis) and seizures that occur in up to 50% of patients.  treatment options are limited to therapies that can help with some of the symptoms. the majority of cases of classic ahc are caused by new mutation in the atp1a3 gene that is not inherited. thus, most patients with ahc with a mutation in atp1a3 gene do not have a family history of the disorder.  additional genes such as cacna1a and atp1a2 have been identified in some cases of ahc with an atypical clinical presentation.  atp1a2 mutations were shown, however, to be more consistent with familial hemiplegic migraine. last updated: 11/29/2012

MalaCards based summary: Alternating Hemiplegia of Childhood, also known as alternating hemiplegia of childhood 1, is related to infantile hypotonia and alternating hemiplegia of childhood 2, 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 are Synaptic vesicle cycle and Thyroid hormone signaling pathway. Affiliated tissues include eye, testes and cortex.

Disease Ontology:11 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.

OMIM:52 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most... (104290) more...

NINDS:49 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. Most children do not have a family history of the disorder; however, recent studies have show that some children with a family history have mutations in the genes CACNA1A, SCN1A, and ATP1A2. Mutations in the ATP1A2 gene have previously been associated with families affect by familial hemiplegic migraine.

UniProtKB/Swiss-Prot:70 Alternating hemiplegia of childhood 1: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.

Wikipedia:71 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain cause, though... more...

Related Diseases for Alternating Hemiplegia of Childhood

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Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 2 Atp1a2-Related Alternating Hemiplegia of Childhood
Atp1a3-Related Alternating Hemiplegia of Childhood

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1infantile hypotonia29.8ATP1A2, CACNA1A, CALCA, TAC1
2alternating hemiplegia of childhood 212.5
3benign familial nocturnal alternating hemiplegia of childhood12.3
4atp1a2-related alternating hemiplegia of childhood12.2
5atp1a3-related alternating hemiplegia of childhood12.2
6adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism11.7
7familial hemiplegic migraine11.3
8acute hemorrhagic conjunctivitis11.2
9x-linked adrenal hypoplasia congenita11.2
10chromosome xp21 deletion syndrome10.9
11hemiplegia10.7
12atrial fibrillation and stroke10.3ATP1A2, CACNA1A
13acro-pectoro-renal dysplasia10.3ATP1A2, CACNA1A
14conjunctivitis10.2
15placental abruption10.2ATP1A2, CACNA1A, SLC1A3
16laron dwarfism10.2CACNA1A, SLC1A3
17microscopic colitis10.2ATP1A2, CACNA1A, CALCA
18cytomegalovirus retinitis10.2GK, NR0B1, NR5A1
19duchenne muscular dystrophy10.2GK, NR0B1, NR5A1
20abl1 kd-related altered drug metabolism10.2NR0B1, NR5A1, SRY
21centrotemporal epilepsy10.2NR0B1, NR5A1
22autosomal dominant optic atrophy and late-onset deafness10.2NR0B1, NR5A1, SRY
23parkinsonism with spasticity, x-linked10.1CNR2, GK, NR0B1
24cartilage disease10.1CALCA, TAC1
25antisynthetase syndrome10.1NR5A1, SRY
26cardiomyopathy, dilated, 3b10.1CNR2, GK, NR0B1
27microcephaly 13, primary, autosomal recessive10.1ATP1A2, CACNA1A, CALCA, TAC1
28farmer's lung10.1NR0B1, NR5A1, SRY
2946 xx gonadal dysgenesis10.1NR0B1, NR5A1, SRY
30hemorrhagic shock and encephalopathy syndrome10.1ATP1A2, ATP1A3, CACNA1A, CALCA, SLC2A1
31kidney osteogenic sarcoma10.1MMP9, SLC2A1
32dystonia10.1
33hemiplegic migraine10.1
34epidural neoplasm10.0GNRHR, NR0B1, NR5A1, PROP1
35amyloidosis9.9
36cerebritis9.9
37capos syndrome9.7
38epilepsy9.7
39encephalopathy9.7
40hypotonia9.7
41salpingo-oophoritis9.5ATP1A2, ATP1A3, CACNA1A, CALCA, GK, MMP9
42deafness, autosomal dominant 77.9ATP1A2, ATP1A3, CACNA1A, CALCA, CBARP, CNR2

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

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Symptoms by clinical synopsis from OMIM:

104290

Clinical features from OMIM:

104290

Human phenotypes related to Alternating Hemiplegia of Childhood:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 nystagmus64 HP:0000639
2 intellectual disability64 HP:0001249
3 choreoathetosis64 HP:0001266
4 mental deterioration64 HP:0001268
5 dystonia64 HP:0001332
6 generalized tonic-clonic seizures64 HP:0002069
7 episodic hemiplegia64 HP:0012194
8 episodic quadriplegia64 HP:0200072

UMLS symptoms related to Alternating Hemiplegia of Childhood:


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

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)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sodium oxybateapprovedPhase 1, Phase 238502-85-25360545
Synonyms:
4-Hydroxybuttersaeure natriumsalz
4-Hydroxybutyrate sodium
4-Hydroxybutyric acid monosodium salt
4-Hydroxybutyric acid sodium salt
502-85-2
ARONIS24196
Anetamin
BUTYRIC ACID, 4-HYDROXY-, SODIUM SALT
Butanoic acid, 4-hydroxy-, monosodium salt
Butanoic acid, 4-hydroxy-, sodium salt
Butanoic acid, 4-hydroxy-, sodium salt (1:1)
Butyric acid, 4-hydroxy-, monosodium salt
Butyric acid, 4-hydroxy-, monosodium salt (8CI)
C4H7O3.Na
CHEMBL1200682
CID10412
D05866
EB 27
EINECS 207-953-3
GHB
Gamma OH
H-4040
H3635_SIGMA
HMS2091E15
Hydroxybutyric acid monosodium salt
 
LS-48077
MolPort-001-766-711
MolPort-006-717-541
NSC 84223
Natrium 4-hydroxybutyrat
OR28769
Oxybate sodium
Sodium 4-hydroxybutyrate
Sodium Oxybate [USAN]
Sodium Oxybutyrate
Sodium gamma-hydroxybutyrate
Sodium gammahydroxybutyrate
Sodium oxybate
Sodium oxybate (USAN)
Sodium-4-hydroxybutyrate
Somsanit
UNII-7G33012534
WY 3478
WY-3478
Xyrem
Xyrem (TN)
gamma-Hydroxy sodium butyrate
gamma-Hydroxybutyrate sodium
gamma-Hydroxybutyrate sodium salt
gamma-Hydroxybutyric acid sodium salt
gamma-Hydroxybutyric acid, sodium salt
2
Glycerolexperimental, approvedPhase 223856-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
3Central Nervous System DepressantsPhase 1, Phase 213403
4Anesthetics, IntravenousPhase 1, Phase 22538
5AnestheticsPhase 1, Phase 29596
6Anesthetics, GeneralPhase 1, Phase 22934
7Adjuvants, AnesthesiaPhase 1, Phase 21674
8Protective AgentsPhase 27443

Interventional clinical trials:

idNameStatusNCT IDPhase
1Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO)CompletedNCT00931164Phase 1, Phase 2
2Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of ChildhoodActive, not recruitingNCT02408354Phase 2
3Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement DisordersRecruitingNCT00682513

Search NIH Clinical Center for Alternating Hemiplegia of Childhood

Genetic Tests for Alternating Hemiplegia of Childhood

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Genetic tests related to Alternating Hemiplegia of Childhood:

id Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood 127
2 Alternating Hemiplegia of Childhood27 24 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

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MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

36
Eye, Testes, Cortex, Skeletal muscle

Publications for Alternating Hemiplegia of Childhood

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Articles related to Alternating Hemiplegia of Childhood:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. (28249736)
2017
2
Diagnosis and Treatment of Alternating Hemiplegia of Childhood. (28337648)
2017
3
Topiramate Therapy in Alternating Hemiplegia of Childhood. (28502069)
2017
4
Alternating Hemiplegia of Childhood with Novel Features. (28138908)
2017
5
Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy. (28163531)
2016
6
Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study. (26999520)
2016
7
Recognizable facial features in patients with alternating hemiplegia of childhood. (27312461)
2016
8
Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood. (27276195)
2016
9
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. (27634470)
2016
10
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation. (27146299)
2016
11
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. (27931826)
2016
12
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? (25662428)
2015
13
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. (25996915)
2015
14
A functional correlate of severity in alternating hemiplegia of childhood. (25681536)
2015
15
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. (26297560)
2015
16
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. (25523819)
2015
17
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. (26463346)
2015
18
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. (25447930)
2015
19
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. (26410222)
2015
20
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. (26322789)
2015
21
Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. (24768197)
2014
22
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. (24842602)
2014
23
Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status. (24100174)
2014
24
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. (24824604)
2014
25
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood. (24532324)
2014
26
Alternating hemiplegia of childhood: new diagnostic options. (24821639)
2014
27
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. (25439493)
2014
28
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. (24996492)
2014
29
Somatosensory system hyperexcitability in alternating hemiplegia of childhood. (25041520)
2014
30
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. (25056583)
2014
31
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. (24123283)
2014
32
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. (24491413)
2014
33
Genotype-phenotype correlations in alternating hemiplegia of childhood. (24431296)
2014
34
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. (24631656)
2014
35
Alternating hemiplegia of childhood. (23622289)
2013
36
Mutations in ATP1A3 cause alternating hemiplegia of childhood. (23043298)
2013
37
Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase I+3 missense mutant mice. (23527305)
2013
38
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. (22899793)
2013
39
Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood. (23681173)
2013
40
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. (23409136)
2013
41
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. (24356855)
2013
42
Benign nocturnal alternating hemiplegia of childhood: A new case with unusual findings. (23820111)
2013
43
Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood. (23672836)
2013
44
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients. (21945173)
2012
45
Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations. (23460948)
2012
46
Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. (22494152)
2012
47
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (22842232)
2012
48
Child neurology: benign nocturnal alternating hemiplegia of childhood. (23109658)
2012
49
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. (22850527)
2012
50
Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology. (21550738)
2012

Variations for Alternating Hemiplegia of Childhood

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UniProtKB/Swiss-Prot genetic disease variations for Alternating Hemiplegia of Childhood:

70
id Symbol AA change Variation ID SNP ID
1ATP1A2p.Thr378AsnVAR_019934rs28934002

Clinvar genetic disease variations for Alternating Hemiplegia of Childhood:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP1A2NM_ 000702.3(ATP1A2): c.1133C> A (p.Thr378Asn)SNVPathogenicrs28934002GRCh37Chr 1, 160098557: 160098557

Expression for genes affiliated with Alternating Hemiplegia of Childhood

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

Pathways for genes affiliated with Alternating Hemiplegia of Childhood

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9ATP1A2, CACNA1A, SLC1A3
29.9ATP1A2, ATP1A3, SLC2A1
39.9ATP1A2, ATP1A3, SLC2A1

GO Terms for genes affiliated with Alternating Hemiplegia of Childhood

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

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:004300510.2ATP1A2, CALCA, CNR2, SLC1A3
2sodium:potassium-exchanging ATPase complexGO:000589010.1ATP1A2, ATP1A3
3neuronal cell bodyGO:00430259.4ATP1A3, CACNA1A, CALCA, CNR2, SLC1A3, TAC1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1ATP hydrolysis coupled transmembrane transportGO:009066210.7ATP1A2, ATP1A3
2cell communication by electrical coupling involved in cardiac conductionGO:008606410.7ATP1A2, ATP1A3
3cellular potassium ion homeostasisGO:003000710.7ATP1A2, ATP1A3
4cellular response to steroid hormone stimulusGO:007138310.7ATP1A2, ATP1A3
5cellular sodium ion homeostasisGO:000688310.7ATP1A2, ATP1A3
6establishment or maintenance of transmembrane electrochemical gradientGO:001024810.7ATP1A2, ATP1A3
7neurotransmitter uptakeGO:000150410.6ATP1A2, SLC1A3
8hormone metabolic processGO:004244510.6CACNA1A, NR5A1
9adrenal gland developmentGO:003032510.6NR0B1, NR5A1
10positive regulation of ossificationGO:004577810.5CALCA, TAC1
11response to glycosideGO:190341610.5ATP1A2, ATP1A3
12male sex determinationGO:003023810.5NR0B1, SRY
13positive regulation of male gonad developmentGO:200002010.5NR5A1, SRY
14regulation of blood pressureGO:000821710.3ATP1A2, CALCA, TAC1
15sex determinationGO:000753010.1NR0B1, NR5A1
16response to painGO:004826510.1CACNA1A, CALCA, TAC1
17sodium ion export from cellGO:003637610.1ATP1A2, ATP1A3
18negative regulation of calcium ion transmembrane transportGO:190317010.0ATP1A2, CBARP

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

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:000539110.3ATP1A2, ATP1A3
2steroid hormone bindingGO:199023910.1ATP1A2, ATP1A3

Sources for Alternating Hemiplegia of Childhood

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet