MCID: ALT001
MIFTS: 52

Alternating Hemiplegia of Childhood malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories

Aliases & Classifications for Alternating Hemiplegia of Childhood

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 46NINDS, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 49 10 11 45 22 23 12 51 65
Ahc 10 45 51
Alternating Hemiplegia in Childhood 51 24
Alternating Hemiplegia Syndrome 45 23
Alternating Hemiplegia 45 46
 
Congenital Hypoplasia of Adrenal Gland 65
Alternating Hemiplegia of Childhood 1 67
Hemiplegia, Crossed 65
Ahc1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
alternating hemiplegia of childhood:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 104290
Disease Ontology10 DOID:0050635
Orphanet51 2131
ICD10 via Orphanet28 G98
MESH via Orphanet37 C536589
UMLS via Orphanet66 C0338488
MeSH36 D006429

Summaries for Alternating Hemiplegia of Childhood

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NIH Rare Diseases:45 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 hemiplegia and alternating hemiplegia of childhood 2, and has symptoms including generalized tonic-clonic seizures, autosomal dominant inheritance and nystagmus. An important gene associated with Alternating Hemiplegia of Childhood is ATP1A2 (ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide), and among its related pathways are Proximal tubule bicarbonate reclamation and Synaptic vesicle cycle. Affiliated tissues include eye, adrenal gland and skeletal muscle, and related mouse phenotypes are reproductive system and nervous system.

Disease Ontology:10 A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.

NINDS:46 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.

Genetics Home Reference:23 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:49 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most... (104290) more...

UniProtKB/Swiss-Prot:67 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:68 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 50)
idRelated DiseaseScoreTop Affiliating Genes
1hemiplegia11.2
2alternating hemiplegia of childhood 210.8
3dystonia10.6
4hemiplegic migraine10.6
5acute hemorrhagic conjunctivitis10.5
6conjunctivitis10.5
7familial hemiplegic migraine10.5
8atp1a2-related alternating hemiplegia of childhood10.5
9atp1a3-related alternating hemiplegia of childhood10.5
10benign familial nocturnal alternating hemiplegia of childhood10.5
11x-linked adrenal hypoplasia congenita10.4
12cerebritis10.4
13bassoe syndrome10.3ATP1A2, CACNA1A
14medial medullary syndrome10.3
15adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.3
16chronic berylliosis10.3ATP1A2, CACNA1A
17stargardt macular degeneration10.3ATP1A2, CACNA1A
18capos syndrome10.2
19cerebral palsy10.2
20mood disorder10.2
21encephalopathy10.2
22hypotonia10.2
23infantile hypotonia10.2
24indolent systemic mastocytosis10.2MMP9, SLC2A1
25hemifacial spasm10.2ATP1A2, CACNA1A, CALCA
26esophagus squamous cell papilloma10.2ATP1A2, CACNA1A, SLC1A3
27chromosome xp21 deletion syndrome10.2
28amyloidosis10.2
29burns10.2CALCA, TAC1
30cluttering10.2CACNA1A, CALCA
31homocarnosinosis10.2ATP1A2, ATP1A3, CACNA1A, CALCA
32x-linked congenital stationary night blindness10.1GK, NR0B1, NR5A1
33actg2-related disorders10.1NR0B1, NR5A1, SRY
34pigmented paravenous retinochoroidal atrophy10.1NR0B1, NR5A1, SRY
35chronic closed-angle glaucoma10.1NR0B1, NR5A1, SRY
36swyer-james syndrome10.1NR0B1, NR5A1, SRY
37migraine with or without aura 110.1ATP1A2, CACNA1A, CALCA, TAC1
38anorectal atresia10.1NR5A1, SRY
39hemoglobin zurich10.1ATP1A2, ATP1A3, CACNA1A, CALCA, SLC2A1
40congenital vascular cavernous malformations10.1CALCA, CNR2
41gonococcal seminal vesiculitis10.1NR0B1, NR5A1, SRY
42gonadal dysgenesis10.1NR0B1, NR5A1, SRY
43episodic ataxia, type 610.1
44quadriplegia10.1
45hemiplegia alterans10.1
46dermatitis10.1
4748,xxxy syndrome10.0NR5A1, SRY
48epidural spinal canal angiolipoma9.9GNRHR, NR0B1, NR5A1, PROP1
49hemoglobinopathy9.9ATP1A2, ATP1A3, CACNA1A, CALCA, NR0B1, SLC1A3
50alternating hemiplegia of childhood7.8ATP1A2, 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 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 9)
id Description Frequency HPO Source Accession
1 generalized tonic-clonic seizures typical (50%) HP:0002069
2 autosomal dominant inheritance HP:0000006
3 nystagmus HP:0000639
4 intellectual disability HP:0001249
5 choreoathetosis HP:0001266
6 mental deterioration HP:0001268
7 dystonia HP:0001332
8 episodic hemiplegia HP:0012194
9 episodic quadriplegia HP:0200072

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
GlycerolexperimentalPhase 217656-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2
R4733Phase 1, Phase 235502-85-25360545
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

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 Childhood22 24 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

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MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

33
Eye, Adrenal gland, Skeletal muscle, Testes

Animal Models for Alternating Hemiplegia of Childhood or affiliated genes

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MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3CACNA1A, CNR2, GNRHR, MMP9, NR0B1, NR5A1
2MP:00036318.1ATP1A2, ATP1A3, CACNA1A, CALCA, GK, MMP9
3MP:00053867.8ATP1A2, ATP1A3, CACNA1A, CALCA, GK, MMP9
4MP:00053767.3ATP1A2, ATP1A3, CACNA1A, CALCA, GK, GNRHR

Publications for Alternating Hemiplegia of Childhood

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Articles related to Alternating Hemiplegia of Childhood:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. (26410222)
2015
2
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? (25662428)
2015
3
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. (25523819)
2015
4
A functional correlate of severity in alternating hemiplegia of childhood. (25681536)
2015
5
Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. (24768197)
2014
6
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. (24824604)
2014
7
Genotype-phenotype correlations in alternating hemiplegia of childhood. (24431296)
2014
8
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. (25056583)
2014
9
Alternating hemiplegia of childhood: new diagnostic options. (24821639)
2014
10
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. (25439493)
2014
11
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. (24123283)
2014
12
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
13
Mutations in ATP1A3 cause alternating hemiplegia of childhood. (23043298)
2013
14
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. (22899793)
2013
15
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. (24356855)
2013
16
Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology. (21550738)
2012
17
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. (22850527)
2012
18
Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations. (23460948)
2012
19
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (22842232)
2012
20
An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins. (22378663)
2012
21
Absence of small-vessel abnormalities in alternating hemiplegia of childhood. (20826074)
2011
22
Child neurology: alternating hemiplegia of childhood. (20368625)
2010
23
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). (21445818)
2010
24
International Classification of Functioning, Disability and Health in subjects with alternating hemiplegia of childhood. (19968522)
2009
25
Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood. (18492605)
2009
26
Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings. (18618665)
2008
27
'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'. (18811707)
2008
28
The treatment and management of alternating hemiplegia of childhood. (17880649)
2007
29
Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up. (16401872)
2006
30
Topiramate: a new agent for patients with alternating hemiplegia of childhood. (17177149)
2006
31
Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. (17236110)
2006
32
Brainstem dysfunction in alternating hemiplegia of childhood: a neurophysiological study. (16674759)
2006
33
Alternating hemiplegia of childhood: a study of neuropsychological functioning. (15788223)
2005
34
General anesthesia for a patient with alternating hemiplegia of childhood. (16326684)
2005
35
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. (15534763)
2004
36
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. (14667076)
2003
37
Alpha[11C] methyl-L-typtophan positron emission tomography in patients with alternating hemiplegia of childhood. (12088079)
2002
38
Caesarean section under general anaesthetic in a woman with alternating hemiplegia of childhood. (15321538)
2002
39
Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. (11504600)
2001
40
Alternating hemiplegia of childhood in half-sisters. (10695898)
2000
41
Is alternating hemiplegia of childhood (AHC) a variant of migraine? (11167894)
2000
42
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. (11167897)
2000
43
Alternating hemiplegia of childhood or Hashimoto's encephalopathy? (10201439)
1999
44
Alternating hemiplegia of childhood: insights into its pathophysiology. (9477247)
1998
45
Alternating hemiplegia of childhood: treatment of attacks with chloral hydrate and niaprazine. (9039526)
1997
46
Alternating hemiplegia of childhood: report of a case having a long history. (9134195)
1997
47
Skeletal muscle mitochondrial dysfunction in alternating hemiplegia of childhood. (7574469)
1995
48
No structural or biochemical evidence for mitochondrial cytopathy in a case of alternating hemiplegia of childhood. (7979233)
1994
49
Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. (8498840)
1993
50
Single-photon emission computed tomography investigations of alternating hemiplegia of childhood. (8335150)
1993

Variations for Alternating Hemiplegia of Childhood

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

67
id Symbol AA change Variation ID SNP ID
1ATP1A2p.Thr378AsnVAR_019934rs28934002

Clinvar genetic disease variations for Alternating Hemiplegia of Childhood:

5 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP1A3NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn)single nucleotide variantPathogenicrs267606670GRCh37Chr 19, 42472989: 42472989
2ATP1A2NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn)single nucleotide variantPathogenicrs28934002GRCh37Chr 1, 160098557: 160098557
3ATP1A3NM_152296.4(ATP1A3): c.2839G> C (p.Gly947Arg)single nucleotide variantPathogenicrs398122887GRCh38Chr 19, 41967744: 41967744
4ATP1A3NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys)single nucleotide variantPathogenicrs587777771GRCh38Chr 19, 41970275: 41970275
5ATP1A3NM_152296.4(ATP1A3): c.410C> A (p.Ser137Tyr)single nucleotide variantPathogenicrs542652468GRCh38Chr 19, 41986177: 41986177
6ATP1A3NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe)single nucleotide variantPathogenicrs542652468GRCh38Chr 19, 41986177: 41986177
7ATP1A3NM_152296.4(ATP1A3): c.419A> T (p.Gln140Leu)single nucleotide variantPathogenicrs606231427GRCh38Chr 19, 41986168: 41986168
8ATP1A3NM_152296.4(ATP1A3): c.821T> A (p.Ile274Asn)single nucleotide variantPathogenicrs80356532GRCh38Chr 19, 41985090: 41985090
9ATP1A3NM_152296.4(ATP1A3): c.965T> A (p.Val322Asp)single nucleotide variantPathogenicrs606231428GRCh38Chr 19, 41984946: 41984946
10ATP1A3NM_152296.4(ATP1A3): c.998G> T (p.Cys333Phe)single nucleotide variantPathogenicrs606231430GRCh38Chr 19, 41982102: 41982102
11ATP1A3NM_152296.4(ATP1A3): c.1003A> C (p.Thr335Pro)single nucleotide variantPathogenicrs606231431GRCh38Chr 19, 41982097: 41982097
12ATP1A3NM_152296.4(ATP1A3): c.1072G> T (p.Gly358Cys)single nucleotide variantPathogenicrs606231432GRCh38Chr 19, 41982028: 41982028
13ATP1A3NM_152296.4(ATP1A3): c.1112T> C (p.Leu371Pro)single nucleotide variantPathogenicrs606231433GRCh38Chr 19, 41981988: 41981988
14ATP1A3NM_152296.4(ATP1A3): c.2264G> C (p.Gly755Ala)single nucleotide variantPathogenicrs606231434GRCh38Chr 19, 41970542: 41970542
15ATP1A3NM_152296.4(ATP1A3): c.2263G> A (p.Gly755Ser)single nucleotide variantPathogenicrs557052809GRCh38Chr 19, 41975629: 41975629
16ATP1A3NM_152296.4(ATP1A3): c.2263G> T (p.Gly755Cys)single nucleotide variantPathogenicrs557052809GRCh38Chr 19, 41975629: 41975629
17ATP1A3NM_152296.4(ATP1A3): c.2270T> C (p.Leu757Pro)single nucleotide variantPathogenicrs606231436GRCh38Chr 19, 41970536: 41970536
18ATP1A3NM_152296.4(ATP1A3): c.2312C> A (p.Thr771Asn)single nucleotide variantPathogenicrs557939077GRCh38Chr 19, 41970494: 41970494
19ATP1A3NM_152296.4(ATP1A3): c.2316C> A (p.Ser772Arg)single nucleotide variantPathogenicrs534926223GRCh38Chr 19, 41970490: 41970490
20ATP1A3NM_152296.4(ATP1A3): c.2318A> G (p.Asn773Ser)single nucleotide variantPathogenicrs606231437GRCh38Chr 19, 41970488: 41970488
21ATP1A3NM_152296.4(ATP1A3): c.2318A> T (p.Asn773Ile)single nucleotide variantPathogenicrs606231437GRCh38Chr 19, 41970488: 41970488
22ATP1A3NM_152296.4(ATP1A3): c.2411C> T (p.Thr804Ile)single nucleotide variantPathogenicrs606231438GRCh38Chr 19, 41970395: 41970395
23ATP1A3NM_152296.4(ATP1A3): c.2415C> G (p.Asp805Glu)single nucleotide variantPathogenicrs606231439GRCh38Chr 19, 41970391: 41970391
24ATP1A3NM_152296.4(ATP1A3): c.2417T> G (p.Met806Arg)single nucleotide variantPathogenicrs549006436GRCh38Chr 19, 41970389: 41970389
25ATP1A3NM_152296.4(ATP1A3): c.2428A> T (p.Ile810Phe)single nucleotide variantPathogenicrs606231440GRCh38Chr 19, 41970299: 41970299
26ATP1A3NM_152296.4(ATP1A3): c.2429T> G (p.Ile810Ser)single nucleotide variantPathogenicrs536681257GRCh38Chr 19, 41970298: 41970298
27ATP1A3NM_152296.4(ATP1A3): c.2542+1G> Asingle nucleotide variantPathogenicrs606231441GRCh38Chr 19, 41970184: 41970184
28ATP1A3NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp)single nucleotide variantPathogenicrs606231442GRCh38Chr 19, 41969523: 41969523
29ATP1A3NM_152296.4(ATP1A3): c.2755_2757delGTC (p.Val919del)deletionPathogenicrs606231443GRCh38Chr 19, 41968847: 41968849
30ATP1A3NM_152296.4(ATP1A3): c.2767G> T (p.Asp923Tyr)single nucleotide variantPathogenicrs267606670GRCh38Chr 19, 41968837: 41968837
31ATP1A3NM_152296.4(ATP1A3): c.2780G> A (p.Cys927Tyr)single nucleotide variantPathogenicrs606231444GRCh38Chr 19, 41968824: 41968824
32ATP1A3NM_152296.4(ATP1A3): c.2780G> T (p.Cys927Phe)single nucleotide variantPathogenicrs606231444GRCh38Chr 19, 41968824: 41968824
33ATP1A3NM_152296.4(ATP1A3): c.2781C> G (p.Cys927Trp)single nucleotide variantPathogenicrs606231445GRCh38Chr 19, 41968823: 41968823
34ATP1A3NM_152296.4(ATP1A3): c.2864C> A (p.Ala955Asp)single nucleotide variantPathogenicrs606231446GRCh38Chr 19, 41967719: 41967719
35ATP1A3NM_152296.4(ATP1A3): c.2974G> T (p.Asp992Tyr)single nucleotide variantPathogenicrs606231447GRCh38Chr 19, 41967288: 41967288
36ATP1A3NM_152296.4(ATP1A3): c.2401G> C (p.Asp801His)single nucleotide variantLikely pathogenicrs80356537GRCh37Chr 19, 42474557: 42474557
37ATP1A3NM_152296.4(ATP1A3): c.2401G> A (p.Asp801Asn)single nucleotide variantPathogenicrs80356537GRCh37Chr 19, 42474557: 42474557
38ATP1A3NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys)single nucleotide variantPathogenicrs387907281GRCh37Chr 19, 42474436: 42474436
39ATP1A3NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro)single nucleotide variantPathogenicrs387907282GRCh37Chr 19, 42474448: 42474448
40ATP1A3NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg)single nucleotide variantPathogenicrs398122887GRCh37Chr 19, 42471896: 42471896

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 pathways (with members indented)ScoreTop Affiliating Genes
110.1ATP1A2, ATP1A3
2
Show member pathways
9.9ATP1A2, CACNA1A, SLC1A3
39.9ATP1A2, ATP1A3, SLC2A1
49.9ATP1A2, 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:000589010.5ATP1A2, ATP1A3
2neuron projectionGO:00430059.3ATP1A2, CALCA, CNR2, SLC1A3
3neuronal cell bodyGO:00430259.2CACNA1A, CALCA, CNR2, SLC1A3, TAC1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cellular response to steroid hormone stimulusGO:007138310.6ATP1A2, ATP1A3
2response to glycosideGO:190341610.6ATP1A2, ATP1A3
3neurotransmitter uptakeGO:000150410.6ATP1A2, SLC1A3
4cellular sodium ion homeostasisGO:000688310.6ATP1A2, ATP1A3
5sodium ion export from cellGO:003637610.6ATP1A2, ATP1A3
6cell communication by electrical coupling involved in cardiac conductionGO:008606410.6ATP1A2, ATP1A3
7cellular potassium ion homeostasisGO:003000710.5ATP1A2, ATP1A3
8sex determinationGO:000753010.5NR0B1, SRY
9response to yeastGO:000187810.2CALCA, TAC1
10antifungal humoral responseGO:001973210.2CALCA, TAC1
11positive regulation of ossificationGO:004577810.2CALCA, TAC1
12cellular response to nerve growth factor stimulusGO:199009010.2CALCA, TAC1
13hormone metabolic processGO:004244510.0CACNA1A, NR5A1
14positive regulation of male gonad developmentGO:20000209.9NR5A1, SRY
15positive regulation of cytosolic calcium ion concentrationGO:00072049.9CACNA1A, CALCA, TAC1
16regulation of blood pressureGO:00082179.8ATP1A2, CALCA, TAC1
17response to painGO:00482659.8CACNA1A, CALCA, TAC1
18male sex determinationGO:00302389.7NR0B1, SRY
19male gonad developmentGO:00085849.6NR0B1, NR5A1, SRY

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

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:000539110.1ATP1A2, ATP1A3
2steroid hormone bindingGO:19902399.8ATP1A2, ATP1A3

Sources for Alternating Hemiplegia of Childhood

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet