MCID: ALT001
MIFTS: 52

Alternating Hemiplegia of Childhood malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 12diseasecard, 66UMLS, 47NINDS, 68UniProtKB/Swiss-Prot, 25GTR, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 50 11 46 23 24 13 52 12 66
Ahc 11 46 52
Alternating Hemiplegia of Childhood 1 68 25
Alternating Hemiplegia in Childhood 52 25
Alternating Hemiplegia Syndrome 46 24
 
Alternating Hemiplegia 46 47
Congenital Hypoplasia of Adrenal Gland 66
Hemiplegia, Crossed 66
Ahc1 68

Characteristics:

Orphanet epidemiological data:

52
alternating hemiplegia of childhood:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Denmark); Age of onset: Infancy; Age of death: any age

HPO:

62
alternating hemiplegia of childhood:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 104290
Disease Ontology11 DOID:0050635
ICD1028 G98
Orphanet52 ORPHA2131
ICD10 via Orphanet29 G98
MESH via Orphanet38 C536589
UMLS via Orphanet67 C0338488
MeSH37 D006429

Summaries for Alternating Hemiplegia of Childhood

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NIH Rare Diseases:46 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 ahc, is related to alternating hemiplegia of childhood 2 and benign familial nocturnal alternating hemiplegia of childhood, and has symptoms including generalized tonic-clonic seizures, nystagmus and intellectual disability. 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 adrenal gland, eye and testes, and related mouse phenotype homeostasis/metabolism.

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:24 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:50 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most... (104290) more...

NINDS:47 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:68 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:69 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology, 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1alternating hemiplegia of childhood 212.5
2benign familial nocturnal alternating hemiplegia of childhood12.4
3atp1a2-related alternating hemiplegia of childhood12.4
4atp1a3-related alternating hemiplegia of childhood12.4
5adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism11.3
6x-linked adrenal hypoplasia congenita11.2
7hemiplegia10.8
8chromosome 8-derived supernumerary ring /marker10.7ATP1A2, CACNA1A
9familial hemiplegic migraine10.7
10surfactant dysfunction10.6ATP1A2, CACNA1A
11calpainopathy10.5CALCA, TAC1
12sarcocystosis10.5ATP1A2, CACNA1A, SLC1A3
13bladder urachal carcinoma10.5MMP9, SLC2A1
14cryptococcal meningitis10.5GK, NR0B1
15hereditary neuropathies10.5ATP1A2, CACNA1A, CALCA
16ischemic colitis10.4ATP1A2, ATP1A3, CACNA1A, CALCA
17tetraamelia with pulmonary hypoplasia10.4NR5A1, SRY
18duchenne muscular dystrophy10.4GK, NR0B1, NR5A1
19acute hemorrhagic conjunctivitis10.4
20conjunctivitis10.4
21drug-induced vasculitis10.4NR0B1, NR5A1, SRY
22abca1-related disorders10.3NR0B1, NR5A1, SRY
23myelocytic leukemia-like syndrome, familial, chronic10.3CACNA1A, CALCA
24parkinsonism with spasticity, x-linked10.3CNR2, GK, NR0B1
2546 xx gonadal dysgenesis10.3NR0B1, NR5A1, SRY
26cardiomyopathy, dilated, 3b10.3CNR2, GK, NR0B1
2748,xxxy syndrome10.3NR5A1, SRY
28albinism, oculocutaneous, type v10.3ATP1A2, CACNA1A, CALCA, TAC1
29mixed gonadal dysgenesis10.2NR0B1, NR5A1, SRY
30paroxysmal cold hemoglobinuria10.2ATP1A2, ATP1A3, CACNA1A, CALCA, SLC2A1
31dystonia10.2
32hemiplegic migraine10.2
33chromosome xp21 deletion syndrome10.1
34hidradenitis10.0GNRHR, NR0B1, NR5A1, SRY
35cerebritis10.0
36gemistocytic astrocytoma10.0MMP9, TAC1, XK
37oguchi disease-29.9CACNA1A, XK
38capos syndrome9.8
39encephalopathy9.8
40hypotonia9.8
41infantile hypotonia9.8
42acute salpingo-oophoritis9.8ATP1A2, ATP1A3, CACNA1A, CALCA, NR0B1, SLC1A3
43alternating hemiplegia of childhood4.7ATP1A2, ATP1A3, CACNA1A, CALCA, CNR2, GK

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



Diseases related to alternating hemiplegia of childhood

Symptoms for Alternating Hemiplegia of Childhood

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Symptoms by clinical synopsis from OMIM:

104290

Clinical features from OMIM:

104290

HPO human phenotypes related to Alternating Hemiplegia of Childhood:

(show all 8)
id Description Frequency HPO Source Accession
1 generalized tonic-clonic seizures typical (50%) HP:0002069
2 nystagmus HP:0000639
3 intellectual disability HP:0001249
4 choreoathetosis HP:0001266
5 mental deterioration HP:0001268
6 dystonia HP:0001332
7 episodic hemiplegia HP:0012194
8 episodic quadriplegia HP:0200072

UMLS symptoms related to Alternating Hemiplegia of Childhood:


hemiplegia, hemiplegia, flaccid, other specified hemiplegia and hemiparesis affecting unspecified side, hemiplegia, unspecified affecting unspecified side, hemiplegia, transient, hemiplegia, post-ictal, hemiplegia not affecting face, hemiplegia not affecting left side of face, hemiplegia not affecting right side of face

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sodium oxybatePhase 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
GlycerolPhase 221056-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin,anhydrous
Glycerine
Glycerinum
Glyceritol
 
Glycerol
Glycerol 85%
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane

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 ChildhoodRecruitingNCT02408354Phase 2

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 125
2 Alternating Hemiplegia of Childhood25 23 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

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MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

34
Adrenal gland, Eye, Testes, Skeletal muscle, Cortex

Animal Models for Alternating Hemiplegia of Childhood or affiliated genes

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MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.9ATP1A2, ATP1A3, CACNA1A, GNRHR, KPNB1, MMP9

Publications for Alternating Hemiplegia of Childhood

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Articles related to Alternating Hemiplegia of Childhood:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Recognizable facial features in patients with alternating hemiplegia of childhood. (27312461)
2016
2
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. (27634470)
2016
3
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation. (27146299)
2016
4
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? (25662428)
2015
5
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. (25523819)
2015
6
A functional correlate of severity in alternating hemiplegia of childhood. (25681536)
2015
7
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. (25447930)
2015
8
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. (26463346)
2015
9
Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. (24768197)
2014
10
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. (24824604)
2014
11
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. (25056583)
2014
12
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. (25439493)
2014
13
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood. (24532324)
2014
14
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. (24996492)
2014
15
Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status. (24100174)
2014
16
Somatosensory system hyperexcitability in alternating hemiplegia of childhood. (25041520)
2014
17
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
18
Mutations in ATP1A3 cause alternating hemiplegia of childhood. (23043298)
2013
19
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. (22899793)
2013
20
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. (24356855)
2013
21
Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood. (23672836)
2013
22
Benign nocturnal alternating hemiplegia of childhood: A new case with unusual findings. (23820111)
2013
23
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. (23409136)
2013
24
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients. (21945173)
2012
25
Absence of small-vessel abnormalities in alternating hemiplegia of childhood. (20826074)
2011
26
Clinical features of nine patients with alternating hemiplegia of childhood. (21449903)
2011
27
Alternating hemiplegia of childhood: successful treatment with topiramate and flunarizine, a case report. (21575320)
2011
28
Child neurology: alternating hemiplegia of childhood. (20368625)
2010
29
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). (21445818)
2010
30
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. (20974617)
2010
31
Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings. (18618665)
2008
32
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. (18498393)
2008
33
The treatment and management of alternating hemiplegia of childhood. (17880649)
2007
34
Topiramate: a new agent for patients with alternating hemiplegia of childhood. (17177149)
2006
35
Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. (17236110)
2006
36
Small vessel abnormalities in alternating hemiplegia of childhood: pathophysiologic implications. (16505301)
2006
37
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. (15534763)
2004
38
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. (15174025)
2004
39
Alternating hemiplegia of childhood: presentation of two cases regarding the extent of variability. (15075068)
2004
40
Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. (11504600)
2001
41
Alternating hemiplegia of childhood in half-sisters. (10695898)
2000
42
Is alternating hemiplegia of childhood (AHC) a variant of migraine? (11167894)
2000
43
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. (11167897)
2000
44
Successful trial of amantadine hydrochloride for two patients with alternating hemiplegia of childhood. (11508550)
2000
45
Alternating hemiplegia of childhood: report of a case having a long history. (9134195)
1997
46
Skeletal muscle mitochondrial dysfunction in alternating hemiplegia of childhood. (7574469)
1995
47
Benign familial nocturnal alternating hemiplegia of childhood. (7936227)
1994
48
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? (8196689)
1994
49
Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. (8498840)
1993
50
Rectal chloral hydrate for alternating hemiplegia of childhood. (2257994)
1990

Variations for Alternating Hemiplegia of Childhood

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

68
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)single nucleotide variantPathogenicrs28934002GRCh37Chr 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
1sodium:potassium-exchanging ATPase complexGO:000589010.7ATP1A2, ATP1A3
2neuron projectionGO:00430059.5ATP1A2, CALCA, CNR2, SLC1A3
3neuronal cell bodyGO:00430259.1CACNA1A, CALCA, CNR2, SLC1A3, TAC1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to glycosideGO:190341610.6ATP1A2, ATP1A3
2cellular response to steroid hormone stimulusGO:007138310.6ATP1A2, ATP1A3
3neurotransmitter uptakeGO:000150410.6ATP1A2, SLC1A3
4sodium ion export from cellGO:003637610.5ATP1A2, ATP1A3
5establishment or maintenance of transmembrane electrochemical gradientGO:001024810.5ATP1A2, ATP1A3
6cellular sodium ion homeostasisGO:000688310.5ATP1A2, ATP1A3
7cell communication by electrical coupling involved in cardiac conductionGO:008606410.4ATP1A2, ATP1A3
8cellular potassium ion homeostasisGO:003000710.4ATP1A2, ATP1A3
9positive regulation of ossificationGO:004577810.2CALCA, TAC1
10hormone metabolic processGO:004244510.1CACNA1A, NR5A1
11male sex determinationGO:003023810.0NR0B1, SRY
12positive regulation of male gonad developmentGO:20000209.8NR5A1, SRY
13response to painGO:00482659.7CACNA1A, CALCA, TAC1
14male gonad developmentGO:00085849.4NR0B1, NR5A1, SRY

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

idNameGO IDScoreTop Affiliating Genes
1steroid hormone bindingGO:199023910.3ATP1A2, ATP1A3
2sodium:potassium-exchanging ATPase activityGO:000539110.1ATP1A2, ATP1A3

Sources for Alternating Hemiplegia of Childhood

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet