AHC
MCID: ALT001
MIFTS: 61

Alternating Hemiplegia of Childhood (AHC) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Alternating Hemiplegia of Childhood

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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 based summary: Alternating Hemiplegia of Childhood, also known as AHC, is related to hemiplegia and hemiplegic migraine, 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 Mineral absorption and Endocrine and other factor-regulated calcium reabsorption. The compounds lithium carbonate and ouabain have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are respiratory system and integument.

Disease Ontology:9 A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.

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

Genetics Home Reference:22 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:46 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most... (104290) more...

Wikipedia:64 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology, though... more...

Description from OMIM:46 614820

Aliases & Classifications for Alternating Hemiplegia of Childhood

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 48Orphanet, 61UMLS, 43NINDS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Alternating Hemiplegia of Childhood, Aliases & Descriptions:

Name: Alternating Hemiplegia of Childhood 9 10 42 21 23 22 46 48 61
Ahc 9 42 48 61
Alternating Hemiplegia Syndrome 42 22 61
 
Alternating Hemiplegia 42 43
Alternating Hemiplegia in Childhood 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
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


External Ids:

Disease Ontology9 DOID:0050635
MESH via Orphanet35 C536589
ICD10 via Orphanet27 G98
UMLS via Orphanet62 C0338488

Related Diseases for Alternating Hemiplegia of Childhood

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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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hemiplegia31.9CACNA1A, ATP1A2, ATP1A3
2hemiplegic migraine31.2CACNA1A, ATP1A2
3familial hemiplegic migraine31.1CACNA1A, ATP1A2
4migraine30.1CALCA, ATP1A2, CACNA1A, TAC1, SLC1A3
5alternating hemiplegia of childhood 210.6
6acute hemorrhagic conjunctivitis10.5
7conjunctivitis10.5
8dystonia10.5
9benign familial nocturnal alternating hemiplegia of childhood10.5
10x-linked adrenal hypoplasia congenita10.4
11episodic ataxia10.4SLC1A3
12cerebritis10.4
13atp1a2-related alternating hemiplegia of childhood10.4
14atp1a3-related alternating hemiplegia of childhood10.4
15medial medullary syndrome10.3
16sporadic hemiplegic migraine10.2
17hypotonia10.2
18infantile hypotonia10.2
19movement disease10.2ATP1A3, SLC2A1
20migraine without aura10.2ATP1A2, CACNA1A
21amyloidosis10.2
22adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.2
23monosomy xp2110.2
24quadriplegia10.1
25hemiplegia alterans10.1
26complex regional pain syndrome10.0TAC1, CALCA
27dermatitis10.0
28dosage-sensitive sex reversal10.0
29giant cell tumor10.0CALCA, MMP9
30mental retardation10.0SLC1A3, CACNA1A, ATP1A2
31cluster headache10.0CACNA1A, CALCA
32papillary carcinoma10.0SLC2A1, CALCA
33pain agnosia10.0CALCA, TAC1
34epilepsy syndrome10.0SLC2A1, CACNA1A, ATP1A2
35neuroendocrine tumor10.0CALCA, TAC1
36papillary thyroid carcinoma10.0CALCA, SLC2A1
37diarrhea10.0TAC1, CALCA
38thyroid hurthle cell carcinoma9.9CALCA, SLC2A1
39transitional cell carcinoma9.9MMP9, SLC2A1
40carcinoid syndrome9.8CALCA, TAC1
41breast cancer9.8MMP9, SLC2A1, TAC1
42astrocytoma9.8TAC1, SLC2A1, SLC1A3, MMP9
43hypertension9.8TAC1, CALCA, MMP9
44glioblastoma9.8TAC1, MMP9, SLC2A1, SLC1A3
45malignant glioma9.8MMP9, SLC1A3, TAC1, SLC2A1
46osteoarthritis9.8CALCA, MMP9, TAC1
47arthritis9.8CALCA, MMP9, TAC1
48neuropathy9.8CACNA1A, TAC1, CALCA
49schizophrenia9.8CACNA1A, TAC1, SLC2A1, SLC1A3
50diabetes mellitus9.6SLC2A1, CALCA, MMP9, TAC1

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:

614820,104290

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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Drug clinical trials:

Search ClinicalTrials for Alternating Hemiplegia of Childhood

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 Childhood21 23 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

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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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MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2CALCA, CACNA1A, MMP9, ATP1A2
2MP:00107717.6ATP1A2, MMP9, CACNA1A, CALCA, TAC1
3MP:00107687.0ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA, SLC2A1
4MP:00036317.0ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA, SLC1A3
5MP:00053766.9ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA, SLC1A3
6MP:00053866.5SLC2A1, ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA

Publications for Alternating Hemiplegia of Childhood

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Articles related to Alternating Hemiplegia of Childhood:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. (24824604)
2014
2
Genotype-phenotype correlations in alternating hemiplegia of childhood. (24431296)
2014
3
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. (25056583)
2014
4
Alternating hemiplegia of childhood: new diagnostic options. (24821639)
2014
5
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. (24123283)
2014
6
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
7
Mutations in ATP1A3 cause alternating hemiplegia of childhood. (23043298)
2013
8
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. (22899793)
2013
9
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. (24356855)
2013
10
Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood. (23672836)
2013
11
Benign nocturnal alternating hemiplegia of childhood: A new case with unusual findings. (23820111)
2013
12
Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology. (21550738)
2012
13
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. (22850527)
2012
14
Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations. (23460948)
2012
15
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (22842232)
2012
16
An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins. (22378663)
2012
17
Child neurology: benign nocturnal alternating hemiplegia of childhood. (23109658)
2012
18
Absence of small-vessel abnormalities in alternating hemiplegia of childhood. (20826074)
2011
19
Clinical features of nine patients with alternating hemiplegia of childhood. (21449903)
2011
20
Child neurology: alternating hemiplegia of childhood. (20368625)
2010
21
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). (21445818)
2010
22
International Classification of Functioning, Disability and Health in subjects with alternating hemiplegia of childhood. (19968522)
2009
23
Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood. (18492605)
2009
24
Glut1 deficiency and alternating hemiplegia of childhood. (19996082)
2009
25
Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings. (18618665)
2008
26
'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'. (18811707)
2008
27
The treatment and management of alternating hemiplegia of childhood. (17880649)
2007
28
Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up. (16401872)
2006
29
Topiramate: a new agent for patients with alternating hemiplegia of childhood. (17177149)
2006
30
Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. (17236110)
2006
31
Brainstem dysfunction in alternating hemiplegia of childhood: a neurophysiological study. (16674759)
2006
32
Alternating hemiplegia of childhood: a study of neuropsychological functioning. (15788223)
2005
33
General anesthesia for a patient with alternating hemiplegia of childhood. (16326684)
2005
34
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. (15534763)
2004
35
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. (14667076)
2003
36
Alpha[11C] methyl-L-typtophan positron emission tomography in patients with alternating hemiplegia of childhood. (12088079)
2002
37
Caesarean section under general anaesthetic in a woman with alternating hemiplegia of childhood. (15321538)
2002
38
Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. (11504600)
2001
39
Alternating hemiplegia of childhood in half-sisters. (10695898)
2000
40
Is alternating hemiplegia of childhood (AHC) a variant of migraine? (11167894)
2000
41
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. (11167897)
2000
42
Alternating hemiplegia of childhood or Hashimoto's encephalopathy? (10201439)
1999
43
Alternating hemiplegia of childhood: insights into its pathophysiology. (9477247)
1998
44
A case of alternating hemiplegia of childhood with cerebellar atrophy. (9682890)
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:

63
id Symbol AA change Variation ID SNP ID
1ATP1A2p.Thr378AsnVAR_019934rs28934002

Clinvar genetic disease variations for Alternating Hemiplegia of Childhood:

7
id Gene Name 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.2401G> A (p.Asp801Asn)single nucleotide variantPathogenicrs80356537GRCh37Chr 19, 42474557: 42474557
5ATP1A3NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys)single nucleotide variantPathogenicrs387907281GRCh37Chr 19, 42474436: 42474436
6ATP1A3NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro)single nucleotide variantPathogenicrs387907282GRCh37Chr 19, 42474448: 42474448
7ATP1A3NM_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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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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Pathways related to Alternating Hemiplegia of Childhood according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ATP1A2, ATP1A3
29.8ATP1A2, ATP1A3
39.8ATP1A2, ATP1A3
49.8ATP1A2, ATP1A3
59.8ATP1A2, ATP1A3
6
Show member pathways
calcium transport I37
9.8ATP1A2, ATP1A3
79.8ATP1A2, ATP1A3
8
Show member pathways
9.8ATP1A3, ATP1A2
99.8ATP1A3, ATP1A2
109.8ATP1A3, ATP1A2
11
Show member pathways
9.8ATP1A3, ATP1A2
12
Show member pathways
Synaptic Vesicle Pathway37
9.3SLC1A3, CACNA1A, ATP1A2
139.2SLC2A1, ATP1A2, ATP1A3
149.2SLC2A1, ATP1A2, ATP1A3
15
Show member pathways
9.2ATP1A3, ATP1A2, SLC2A1
16
Show member pathways
9.2TAC1, ATP1A2, ATP1A3
179.2MMP9, CACNA1A
189.2SLC1A3, TAC1, ATP1A3
199.1SLC2A1, MMP9
20
Show member pathways
8.8ATP1A3, ATP1A2, SLC1A3, SLC2A1

Compounds for genes affiliated with Alternating Hemiplegia of Childhood

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Compounds related to Alternating Hemiplegia of Childhood according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1lithium carbonate6010.2ATP1A2, ATP1A3
2ouabain44 1210.9TAC1, ATP1A2
34-aminopyridine44 2910.9TAC1, CACNA1A
4rp6758044 2910.8TAC1, CALCA
5gr 7363244 6010.8CALCA, TAC1
6resiniferatoxin44 2910.8TAC1, CALCA
7helospectin449.8TAC1, CALCA
8guanethidine44 1210.7TAC1, CALCA
9cromakalim44 2910.7TAC1, CALCA
10i-app449.7CALCA, TAC1
11capsazepine60 44 2911.7TAC1, CALCA
12thiorphan44 29 1211.7TAC1, CALCA
13ng-nitro-l-arginine449.7TAC1, CALCA
14phosphoramidon44 1210.7TAC1, CALCA
15digoxin44 60 50 25 1213.7TAC1, ATP1A2, ATP1A3
16furosemide44 60 29 50 25 1214.6CALCA, TAC1
17captopril44 60 50 29 1213.6TAC1, CALCA
18methacholine44 50 1211.6CALCA, TAC1
19clonidine44 50 29 1212.5TAC1, CALCA
20alpha lipoic acid449.4MMP9, SLC2A1
21glibenclamide44 29 50 6012.4CALCA, SLC2A1
22zoledronic acid449.4MMP9, CALCA
23verapamil44 29 50 25 1213.4CACNA1A, TAC1, SLC2A1
24l-nmma449.4MMP9, TAC1
25malate449.4SLC1A3, MMP9
26atropine44 29 1211.3TAC1, CALCA
27prostaglandin f2alpha449.2CALCA, TAC1, SLC2A1
28capsaicin44 2910.2TAC1, CALCA
29acetylcholine44 50 29 25 1213.2TAC1, CALCA, CACNA1A
30potassium44 25 1211.2TAC1, CACNA1A, ATP1A2, ATP1A3
31hydroxyproline44 25 1211.2MMP9, CALCA
32lactose44 1210.1MMP9, SLC2A1
33inositol449.1SLC2A1, SLC1A3, MMP9
34forskolin44 50 1211.1SLC2A1, TAC1, CALCA
35wortmannin449.1MMP9, SLC1A3, SLC2A1
362-deoxyglucose44 1210.0SLC2A1, CALCA
37glutamine449.0SLC2A1, SLC1A3, TAC1, CACNA1A
38actinomycin d448.9SLC2A1, TAC1, MMP9
39epinephrine44 25 1210.9MMP9, CALCA, TAC1
40norepinephrine44 25 1210.9MMP9, CALCA, TAC1
41sodium44 259.8ATP1A3, ATP1A2, CACNA1A, TAC1, SLC1A3
42pge2448.7TAC1, CALCA, MMP9
43lactate448.7SLC2A1, CALCA, MMP9
44gaba448.6MMP9, TAC1, SLC1A3, SLC2A1
45cysteine448.6SLC2A1, SLC1A3, TAC1, MMP9
46dopamine44 29 25 1211.4MMP9, CALCA, TAC1, SLC2A1
47estrogen448.4SLC2A1, TAC1, CALCA, MMP9
48calcium44 50 25 1211.0ATP1A2, MMP9, CACNA1A, CALCA, TAC1
49adenylate448.0SLC2A1, SLC1A3, TAC1, CALCA, MMP9
50glutamate447.2SLC2A1, SLC1A3, TAC1, CALCA, CACNA1A, MMP9

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase complexGO:0058909.8ATP1A2, ATP1A3
2caveolaGO:0059019.6SLC2A1, ATP1A2
3cell projectionGO:0429959.3SLC1A3, CACNA1A
4neuronal cell bodyGO:0430258.5SLC1A3, TAC1, CALCA, CACNA1A
5plasma membraneGO:0058867.7ATP1A3, ATP1A2, CACNA1A, TAC1, SLC1A3, SLC2A1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter uptakeGO:00150410.0SLC1A3, ATP1A2
2ATP biosynthetic processGO:00675410.0ATP1A2, ATP1A3
3visual learningGO:0085429.9ATP1A2, ATP1A3
4adult locomotory behaviorGO:0083449.9ATP1A2, ATP1A3
5sodium ion transmembrane transportGO:0357259.8ATP1A2, ATP1A3
6neuromuscular process controlling balanceGO:0508859.7SLC1A3, CACNA1A
7positive regulation of ossificationGO:0457789.6TAC1, CALCA
8response to painGO:0482659.6TAC1, CALCA
9regulation of insulin secretionGO:0507969.4SLC2A1, CACNA1A
10neuropeptide signaling pathwayGO:0072189.3TAC1, CALCA
11regulation of blood pressureGO:0082179.3TAC1, CALCA, ATP1A2
12embryo implantationGO:0075669.2MMP9, CALCA
13energy reserve metabolic processGO:0061129.2SLC2A1, CACNA1A
14positive regulation of cytosolic calcium ion concentrationGO:0072049.2CACNA1A, CALCA, TAC1
15synaptic transmissionGO:0072689.2CACNA1A, TAC1, SLC1A3
16transmembrane transportGO:0550859.1ATP1A3, ATP1A2, SLC1A3, SLC2A1

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

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:0053919.5ATP1A2, ATP1A3
2identical protein bindingGO:0428028.5SLC2A1, CALCA, MMP9

Products for genes affiliated with Alternating Hemiplegia of Childhood

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Sources for Alternating Hemiplegia of Childhood

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4CDC
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40NDF-RT
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