AHC
MCID: ALT001
MIFTS: 55

Alternating Hemiplegia of Childhood (AHC) malady

Neuronal diseases category

Summaries for Alternating Hemiplegia of Childhood

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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.

MalaCards: Alternating Hemiplegia of Childhood, also known as alternating hemiplegia syndrome, is related to hemiplegia and migraine. An important gene associated with Alternating Hemiplegia of Childhood is ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 polypeptide), and among its related pathways are Aldosterone-regulated sodium reabsorption and Carbohydrate digestion and absorption. The compounds lithium carbonate and 4-aminopyridine have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are integument and nervous system.

Genetics Home Reference:21 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:42 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

Wikipedia:63 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology, though... more...

Description from OMIM:46 104290,614820

Aliases & Classifications for Alternating Hemiplegia of Childhood

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
alternating hemiplegia of childhood:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

alternating hemiplegia of childhood 8 9 42 20 22 21 46 48 60
alternating hemiplegia syndrome 42 21
alternating hemiplegia 42 43
ahc 42 48
alternating hemiplegia in childhood 48


External Ids:

Disease Ontology8 DOID:0050635
MESH via Orphanet35 C536589
ICD10 via Orphanet26 G98
SNOMED-CT via Orphanet57 230466004
UMLS via Orphanet61 C0338488

Related Diseases for Alternating Hemiplegia of Childhood

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17GeneCards, 18GeneDecks
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Diseases in the Alternating Hemiplegia of Childhood family:

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

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1hemiplegia31.7NR0B1, ATP1A3, CACNA1A, ATP1A2
2migraine30.7ATP1A2, CACNA1A, SLC1A3, TAC1, CALCA
3familial hemiplegic migraine30.7CACNA1A, ATP1A2
4hemiplegic migraine30.2ATP1A2, CACNA1A
5alternating hemiplegia of childhood 210.5
6acute hemorrhagic conjunctivitis10.4
7acute conjunctivitis10.4
8conjunctivitis10.4
9x-linked adrenal hypoplasia congenita10.4
10cerebritis10.3
11rapid-onset dystonia-parkinsonism10.3
12atp1a2-related alternating hemiplegia of childhood10.3
13atp1a3-related alternating hemiplegia of childhood10.3
14benign familial nocturnal alternating hemiplegia of childhood10.3
15medial medullary syndrome10.2
16sporadic hemiplegic migraine10.2
17amyloidosis10.1
18adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.1
19monosomy xp2110.1
20quadriplegia10.0
21hemiplegia alterans10.0
22episodic ataxia10.0SLC1A3
23amyotrophic lateral sclerosis10.0SLC1A3
24dementia10.0SLC1A3
25pancreatitis10.0TAC1
26short stature10.0NR0B1
27psoriasis10.0TAC1
28hemangioma10.0SLC2A1
29ischemia10.0SLC1A3, ATP1A2
30allergic rhinitis10.0TAC1
31cerebellar degeneration10.0CACNA1A
32migraine without aura10.0CACNA1A, ATP1A2
33spinocerebellar ataxia type 310.0CACNA1A
34rhinitis10.0TAC1
35neuroendocrine tumor10.0CALCA
36pancreatic islet cell tumors10.0CALCA
37meningitis10.0MMP9
38obesity10.0NR0B1, SLC2A1
39movement disease10.0ATP1A3, SLC2A1
40osteosarcoma10.0SLC1A3, MMP9
41wilms tumor10.0NR0B1
42insulin resistance10.0TAC1, SLC2A1
43giant cell tumor10.0MMP9, CALCA
44diarrhea10.0CALCA, TAC1
45complex regional pain syndrome10.0TAC1, CALCA
46cluster headache10.0CACNA1A, CALCA
47epilepsy syndrome10.0ATP1A2, CACNA1A, SLC2A1
48mental retardation10.0SLC1A3, NR0B1, ATP1A2, CACNA1A
49adenocarcinoma10.0TAC1, SLC2A1, MMP9
50pain agnosia10.0TAC1, CALCA

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



Diseases related to alternating hemiplegia of childhood

Clinical Features for Alternating Hemiplegia of Childhood

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46OMIM
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Clinical features from OMIM:

104290,614820

Clinical synopsis from OMIM:

104290

Drugs & Therapeutics for Alternating Hemiplegia of Childhood

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Alternating Hemiplegia of Childhood

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20GeneTests, 22GTR
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Genetic tests related to Alternating Hemiplegia of Childhood:

id Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood20 22 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

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32MalaCards
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MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

32
Eye, Skeletal muscle

Animal Models for Alternating Hemiplegia of Childhood or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.8MMP9, TAC1, ATP1A2, CACNA1A, CALCA
2MP:00036316.8CALCA, SLC1A3, SLC2A1, MMP9, ATP1A2, ATP1A3
3MP:00053866.5SLC1A3, CALCA, CACNA1A, ATP1A3, ATP1A2, TAC1
4MP:00053766.5SLC2A1, MMP9, NR0B1, ATP1A2, ATP1A3, CACNA1A

Publications for Alternating Hemiplegia of Childhood

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50PubMed
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Articles related to Alternating Hemiplegia of Childhood:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. (24123283)
2014
2
Mutations in ATP1A3 cause alternating hemiplegia of childhood. (23043298)
2013
3
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. (24356855)
2013
4
Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood. (23672836)
2013
5
Alternating hemiplegia of childhood. (23622289)
2013
6
Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology. (21550738)
2012
7
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (22842232)
2012
8
An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins. (22378663)
2012
9
Child neurology: benign nocturnal alternating hemiplegia of childhood. (23109658)
2012
10
Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. (22494152)
2012
11
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients. (21945173)
2012
12
Absence of small-vessel abnormalities in alternating hemiplegia of childhood. (20826074)
2011
13
Clinical features of nine patients with alternating hemiplegia of childhood. (21449903)
2011
14
Alternating hemiplegia of childhood: successful treatment with topiramate and flunarizine, a case report. (21575320)
2011
15
Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution. (20817433)
2011
16
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). (21445818)
2010
17
Neonatal onset of bath-induced alternating hemiplegia of childhood. (19717320)
2010
18
Glut1 deficiency and alternating hemiplegia of childhood. (19996082)
2009
19
'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'. (18811707)
2008
20
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. (18498393)
2008
21
Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients]. (18462636)
2008
22
Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up. (16401872)
2006
23
Topiramate: a new agent for patients with alternating hemiplegia of childhood. (17177149)
2006
24
Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. (17236110)
2006
25
Brainstem dysfunction in alternating hemiplegia of childhood: a neurophysiological study. (16674759)
2006
26
Small vessel abnormalities in alternating hemiplegia of childhood: pathophysiologic implications. (16505301)
2006
27
General anesthesia for a patient with alternating hemiplegia of childhood. (16326684)
2005
28
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. (15286158)
2004
29
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. (15174025)
2004
30
Alternating hemiplegia of childhood: presentation of two cases regarding the extent of variability. (15075068)
2004
31
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. (14667076)
2003
32
Caesarean section under general anaesthetic in a woman with alternating hemiplegia of childhood. (15321538)
2002
33
Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. (11504600)
2001
34
Benign nocturnal alternating hemiplegia of childhood: six patients and long-term follow-up. (11673597)
2001
35
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. (11167897)
2000
36
Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. (11020638)
2000
37
Alternating hemiplegia of childhood or Hashimoto's encephalopathy? (10201439)
1999
38
A case of alternating hemiplegia of childhood with cerebellar atrophy. (9682890)
1998
39
Alternating hemiplegia of childhood: treatment of attacks with chloral hydrate and niaprazine. (9039526)
1997
40
Alternating hemiplegia of childhood: report of a case having a long history. (9134195)
1997
41
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. (7561937)
1995
42
Skeletal muscle mitochondrial dysfunction in alternating hemiplegia of childhood. (7574469)
1995
43
Alternating hemiplegia of childhood. (7768346)
1995
44
No structural or biochemical evidence for mitochondrial cytopathy in a case of alternating hemiplegia of childhood. (7979233)
1994
45
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? (8196689)
1994
46
Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. (8498840)
1993
47
Alternating hemiplegia of childhood: studies of regional cerebral blood flow using 99mTc-hexamethylpropylene amine oxime single-photon emission computed tomography. (8494333)
1993
48
Alternating hemiplegia of childhood: a study of 10 patients and results of flunarizine treatment. (8423908)
1993
49
Alternating hemiplegia of childhood: case report. (1624283)
1992
50
Rectal chloral hydrate for alternating hemiplegia of childhood. (2257994)
1990

Genetic Variations for Alternating Hemiplegia of Childhood

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Alternating Hemiplegia of Childhood:

62
id Symbol AA change Variation ID SNP ID
1ATP1A2p.Thr378AsnVAR_019934rs28934002

Expression for genes affiliated with Alternating Hemiplegia of Childhood

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alternating Hemiplegia of Childhood

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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29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 53Reactome
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Compounds for genes affiliated with Alternating Hemiplegia of Childhood

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59Tocris Bioscience, 44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Alternating Hemiplegia of Childhood according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1lithium carbonate5910.2ATP1A3, ATP1A2
24-aminopyridine44 2810.8CACNA1A, TAC1
3rp6758044 2810.7TAC1, CALCA
4gr 7363244 5910.7TAC1, CALCA
5resiniferatoxin44 2810.7CALCA, TAC1
6helospectin449.7CALCA, TAC1
7digoxin44 49 59 11 2413.7TAC1, ATP1A2, ATP1A3
8guanethidine44 1110.7TAC1, CALCA
9cromakalim44 2810.7TAC1, CALCA
10i-app449.6CALCA, TAC1
11ouabain44 1110.6TAC1, ATP1A2
12capsazepine44 59 2811.6TAC1, CALCA
13thiorphan44 28 1111.6CALCA, TAC1
14ng-nitro-l-arginine449.6TAC1, CALCA
15phosphoramidon44 1110.4CALCA, TAC1
16furosemide44 49 59 28 11 2414.4TAC1, CALCA
17verapamil44 49 28 11 2413.3SLC2A1, TAC1, CACNA1A
18potassium44 11 2411.2TAC1, ATP1A2, ATP1A3, CACNA1A
19prostaglandin f2alpha449.2CALCA, TAC1, SLC2A1
20zoledronic acid449.2MMP9, CALCA
21alpha lipoic acid449.1SLC2A1, MMP9
22inositol449.0SLC1A3, SLC2A1, MMP9
23glutamine449.0CACNA1A, TAC1, SLC2A1, SLC1A3
24sodium44 249.9CACNA1A, ATP1A3, ATP1A2, TAC1, SLC1A3
25epinephrine44 11 2410.7MMP9, TAC1, CALCA
26gaba448.6TAC1, MMP9, SLC2A1, SLC1A3
27acetylcholine44 49 28 11 2412.6TAC1, CACNA1A, CALCA
28norepinephrine44 11 2410.4CALCA, TAC1, MMP9
29dexamethasone44 49 28 1111.4NR0B1, TAC1, MMP9, SLC2A1
30dopamine44 28 11 2411.3CALCA, TAC1, MMP9, SLC2A1
31testosterone44 59 11 2411.3MMP9, TAC1, NR0B1, CALCA
32cysteine448.1NR0B1, TAC1, MMP9, SLC2A1, SLC1A3
33adenylate448.0CALCA, TAC1, MMP9, SLC2A1, SLC1A3
34estrogen447.9SLC2A1, MMP9, TAC1, NR0B1, CALCA
35glutamate447.3SLC1A3, SLC2A1, MMP9, TAC1, ATP1A2, CACNA1A

GO Terms for genes affiliated with Alternating Hemiplegia of Childhood

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16Gene Ontology
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Cellular components related to Alternating Hemiplegia of Childhood according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase complexGO:0058909.8ATP1A2, ATP1A3
2neuronal cell bodyGO:0430258.2SLC1A3, TAC1, CACNA1A, CALCA

Biological processes related to Alternating Hemiplegia of Childhood according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter uptakeGO:00150410.0SLC1A3, ATP1A2
2ATP biosynthetic processGO:0067549.9ATP1A2, ATP1A3
3visual learningGO:0085429.7ATP1A3, ATP1A2
4neuromuscular process controlling balanceGO:0508859.7SLC1A3, CACNA1A
5adult locomotory behaviorGO:0083449.5ATP1A2, ATP1A3
6response to painGO:0482659.4CALCA, TAC1
7regulation of blood pressureGO:0082179.2TAC1, ATP1A2, CALCA
8elevation of cytosolic calcium ion concentrationGO:0072049.1CALCA, CACNA1A, TAC1
9transmembrane transportGO:0550859.1SLC1A3, SLC2A1, ATP1A2, ATP1A3
10embryo implantationGO:0075669.0MMP9, CALCA

Molecular functions related to Alternating Hemiplegia of Childhood according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:0053919.8ATP1A2, ATP1A3

Products for genes affiliated with Alternating Hemiplegia of Childhood

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Sources for Alternating Hemiplegia of Childhood

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet