AHC
MCID: ALT001
MIFTS: 54

Alternating Hemiplegia of Childhood (AHC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood

MalaCards integrated aliases for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 12 75 53 25 59 37 29 6 44 15 72
Alternating Hemiplegia 53 54 59
Ahc 12 53 59
Alternating Hemiplegia Syndrome 53 25
Hemiplegia, Alternating, of Childhood 40
Hemiplegia, Crossed 72

Characteristics:

Orphanet epidemiological data:

59
alternating hemiplegia of childhood
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Denmark); Age of onset: Infancy; Age of death: any age;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050635
KEGG 37 H00998
MeSH 44 C536589
ICD10 33 G98
MESH via Orphanet 45 C536589
ICD10 via Orphanet 34 G98
UMLS via Orphanet 73 C0338488
UMLS 72 C0278110 C0338488

Summaries for Alternating Hemiplegia of Childhood

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. In addition to paralysis, affected individuals can have sudden attacks of uncontrollable muscle activity; these can cause involuntary limb movements (choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), or shortness of breath (dyspnea). People with alternating hemiplegia of childhood may also experience sudden redness and warmth (flushing) or unusual paleness (pallor) of the skin. These attacks can occur during or separately from episodes of hemiplegia. The episodes of hemiplegia or uncontrolled movements can be triggered by certain factors, such as stress, extreme tiredness, cold temperatures, or bathing, although the trigger is not always known. A characteristic feature of alternating hemiplegia of childhood is that all symptoms disappear while the affected person is sleeping but can reappear shortly after awakening. The number and length of the episodes initially worsen throughout childhood but then begin to decrease over time. The uncontrollable muscle movements may disappear entirely, but the episodes of hemiplegia occur throughout life. Alternating hemiplegia of childhood also causes mild to severe cognitive problems. Almost all affected individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time.

MalaCards based summary : Alternating Hemiplegia of Childhood, also known as alternating hemiplegia, is related to adrenal hypoplasia, congenital and familial hemiplegic migraine, 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/superpathways are Aldosterone-regulated sodium reabsorption and Endocrine and other factor-regulated calcium reabsorption. The drugs Glycerol and Sodium oxybate have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.

NIH Rare Diseases : 53 Alternating hemiplegia of childhood (AHC) is a neurological disorder that usually affects children 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. A characteristic feature of AHC is that symptoms disappear during sleep and return upon waking. Many affected children display some degree of developmental delay, abnormal eye (oculomotor) movements, uncontrolled limb movements (including ataxia, dystonia, and choreoathetosis) and seizures. The majority of cases of AHC are caused by a new change (called a mutation or pathogenic variant) in the ATP1A3 gene that is not inherited. Thus, most patients with AHC do not have a family history of the disorder. A small number of cases of AHC are caused by changes in the ATP1A2 gene. When this condition does run in families, it follows an autosomal dominant pattern of inheritance.Treatment is limited to therapies that can help reduce the severity and duration of symptoms.

NINDS : 54 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. Alternating hemiplegia is primarily caused by mutations in the ATP1A3 gene. Occasionally, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. Mutations in these genes reduce the activity of an enzyme called Na+/K+ ATPase, which affects the signals that control muscle movement. However, it not yet clear how the reduced enzyme activity leads to the symptoms of the disorder.

KEGG : 37
Alternating hemiplegia of childhood (AHC) is a rare disorder with onset before 18 months of age. The earliest manifestations of AHC are recurrent bilateral attacks of hemiplegia lasting minutes to days, abnormal ocular movements, and autonomic disturbances. A characteristic feature of AHC is the disappearance of all abnormalities when the child falls asleep.

Wikipedia : 75 Alternating hemiplegia of childhood is an ultra-rare neurological disorder named for the transient... more...

Related Diseases for Alternating Hemiplegia of Childhood

Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 1 Alternating Hemiplegia of Childhood 2

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 adrenal hypoplasia, congenital 34.2 NR5A1 NR0B1 GK
2 familial hemiplegic migraine 33.0 CALCA CACNA1A ATP1A3 ATP1A2
3 episodic ataxia, type 6 32.8 SLC1A3 CACNA1A
4 chromosome xp21 deletion syndrome 32.5 NR0B1 GK
5 migraine with or without aura 1 31.0 TAC1 SLC1A3 CALCA CACNA1A ATP1A2
6 hemiplegia 30.9 TAC1 SLC2A1 SLC1A3 CALCA CACNA1A ATP1A3
7 hemiplegic migraine 30.8 SLC2A1 CALCA CACNA1A ATP1A3 ATP1A2
8 visual epilepsy 30.7 TANGO2 SLC2A1 ATP1A3
9 headache 30.7 TAC1 CACNA1A ATP1A2
10 aceruloplasminemia 30.6 SLC2A1 CACNA1A ATP1A3
11 episodic ataxia 30.6 SLC1A3 CACNA1A ATP1A2
12 alternating hemiplegia of childhood 2 13.1
13 alternating hemiplegia of childhood 1 13.0
14 benign nocturnal alternating hemiplegia of childhood 12.7
15 medial medullary syndrome 11.6
16 hemiplegia alterans 11.5
17 conjunctivitis 10.7
18 familial or sporadic hemiplegic migraine 10.7 CACNA1A ATP1A2
19 sporadic hemiplegic migraine 10.6 CACNA1A ATP1A2
20 acute hemorrhagic conjunctivitis 10.6
21 atp1a3-related neurologic disorders 10.6
22 dystonia 10.6
23 angiokeratoma circumscriptum 10.6 SLC2A1 MMP9
24 46,xy partial gonadal dysgenesis 10.4 NR5A1 NR0B1
25 vasomotor rhinitis 10.4 TAC1 CALCA
26 pathologic nystagmus 10.4
27 ataxia and polyneuropathy, adult-onset 10.4
28 movement disease 10.4
29 hypogonadotropic hypogonadism 10.4
30 hypogonadism 10.4
31 hypogonadotropism 10.4
32 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.3 NR0B1 GK
33 status epilepticus 10.3
34 hypotonia 10.3
35 adrenal cortical hypofunction 10.3 NR5A1 NR0B1 GK
36 cluster headache 10.2 CALCA CACNA1A
37 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 10.2
38 alacrima, achalasia, and mental retardation syndrome 10.2
39 locked-in syndrome 10.2
40 quadriplegia 10.2
41 epilepsy 10.2
42 seizure disorder 10.2
43 46,xy sex reversal 2 10.2
44 amyloidosis 10.2
45 chorea, childhood-onset, with psychomotor retardation 10.1
46 choreatic disease 10.1
47 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 10.1
48 autonomic dysfunction 10.1
49 gonadal disease 10.1 NR5A1 NR0B1 GNRHR
50 dystonia 12 10.1

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

UMLS symptoms related to Alternating Hemiplegia of Childhood:


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

MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ADCY5 ATP1A2 ATP1A3 CACNA1A FXYD6 MMP9
2 homeostasis/metabolism MP:0005376 9.4 ADCY5 ATP1A2 ATP1A3 CACNA1A GNRHR MMP9

Drugs & Therapeutics for Alternating Hemiplegia of Childhood

Drugs for Alternating Hemiplegia of Childhood (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2 56-81-5 753
2
Sodium oxybate Approved Phase 1, Phase 2 502-85-2 5360545
3 Protective Agents Phase 2
4 Adjuvants, Anesthesia Phase 1, Phase 2
5 Central Nervous System Depressants Phase 1, Phase 2
6 Anesthetics Phase 1, Phase 2
7 Anesthetics, General Phase 1, Phase 2
8 Anesthetics, Intravenous Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 "Etude Pilote, Comparative, Monocentrique, randomisée, en Cross Over, en Double Aveugle, Contre Placebo, Testant l'efficacité de l'Huile triheptanoïne Dans Les Hémiplégies Alternantes de l'Enfant" HEMIHEP Unknown status NCT02408354 Phase 2 Triheptanoin;Placebo
2 Single-center Phase I/II Trial of Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO Trial) Completed NCT00931164 Phase 1, Phase 2 Sodium Oxybate
3 Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3 Recruiting NCT00682513
4 Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project Active, not recruiting NCT03857607
5 Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Prospective Observational Natural History and Therapy Study Not yet recruiting NCT04020848

Search NIH Clinical Center for Alternating Hemiplegia of Childhood

Cochrane evidence based reviews: alternating hemiplegia of childhood

Genetic Tests for Alternating Hemiplegia of Childhood

Genetic tests related to Alternating Hemiplegia of Childhood:

# Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood 29

Anatomical Context for Alternating Hemiplegia of Childhood

MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

41
Eye, Skin, Brain, Testes, Heart, Smooth Muscle, Cortex

Publications for Alternating Hemiplegia of Childhood

Articles related to Alternating Hemiplegia of Childhood:

(show top 50) (show all 294)
# Title Authors PMID Year
1
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 38 71
24842602 2014
2
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 38 71
22842232 2012
3
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 38 71
22850527 2012
4
ATP1A3-Related Neurologic Disorders 38 71
20301294 2008
5
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 38 71
15286158 2004
6
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. 38 71
15174025 2004
7
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. 38 71
14667076 2003
8
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 71
19652145 2009
9
Monocular nystagmus in a patient with alternating hemiplegia of childhood. 38
31427486 2019
10
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. 38
31425744 2019
11
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. 38
31361359 2019
12
ATP1A3 mosaicism in families with alternating hemiplegia of childhood. 38
30891744 2019
13
Physical Therapy for a Patient With Alternating Hemiplegia of Childhood: A Case Report. 38
31220019 2019
14
Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities. 38
31158946 2019
15
Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics. 38
30548852 2019
16
An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole. 38
30893129 2019
17
Heart rate variability in a patient with alternating hemiplegia. 38
31218164 2019
18
Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood. 38
30362107 2019
19
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3. 38
30862413 2019
20
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition. 38
30650451 2019
21
A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant. 38
30392841 2019
22
Alternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option. 38
30834869 2019
23
Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood. 38
30621840 2019
24
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing. 38
30657467 2019
25
Fever-related ataxia: a case report of CAPOS syndrome. 38
31410291 2019
26
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 38
30690204 2019
27
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. 38
30423015 2018
28
Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome. 38
30562231 2018
29
Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases. 38
30550795 2018
30
[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood]. 38
30392204 2018
31
Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal. 38
30194039 2018
32
Novel E815K knock-in mouse model of alternating hemiplegia of childhood. 38
30071271 2018
33
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations. 38
29861155 2018
34
Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review. 38
30011403 2018
35
Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity. 38
29801192 2018
36
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. 38
29922587 2018
37
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations. 38
29397530 2018
38
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report. 38
29625811 2018
39
Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction. 38
29889309 2018
40
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. 38
29567111 2018
41
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. 38
29967203 2018
42
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia. 38
29895895 2018
43
ATP1A3-related epileptic encephalopathy responding to ketogenic diet. 38
29395663 2018
44
Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation. 38
29610157 2018
45
ATP1A3-related disorders: An update. 38
29291920 2018
46
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. 38
29396171 2018
47
Recurrent Focal Seizures and Transient Hemiparesis: Think About Alternating Hemiplegia of Childhood. 38
29395725 2018
48
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene. 38
29269014 2018
49
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. 38
29305691 2018
50
Topiramate Therapy in Alternating Hemiplegia of Childhood. 38
28502069 2017

Variations for Alternating Hemiplegia of Childhood

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A3 NM_152296.5(ATP1A3): c.1905C> T (p.Ala635=) single nucleotide variant Conflicting interpretations of pathogenicity rs781822752 19:42482126-42482126 19:41977974-41977974
2 ATP1A2 NM_000702.4(ATP1A2): c.1652-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200102433 1:160100205-160100205 1:160130415-160130415
3 ATP1A3 NM_152296.5(ATP1A3): c.1323G> A (p.Ala441=) single nucleotide variant Conflicting interpretations of pathogenicity rs34578730 19:42485768-42485768 19:41981616-41981616
4 ATP1A2 NM_000702.4(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 1:160100226-160100226 1:160130436-160130436
5 ATP1A2 NM_000702.4(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 1:160106732-160106732 1:160136942-160136942
6 ATP1A2 NM_000702.4(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 1:160093019-160093019 1:160123229-160123229
7 ATP1A2 NM_000702.4(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 1:160098516-160098516 1:160128726-160128726
8 ATP1A2 NM_000702.4(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 1:160099904-160099904 1:160130114-160130114
9 ATP1A2 NM_000702.4(ATP1A2): c.627T> C (p.Cys209=) single nucleotide variant Conflicting interpretations of pathogenicity rs139229302 1:160094217-160094217 1:160124427-160124427
10 ATP1A2 NM_000702.4(ATP1A2): c.339C> T (p.Tyr113=) single nucleotide variant Conflicting interpretations of pathogenicity rs148929192 1:160093164-160093164 1:160123374-160123374
11 ATP1A2 NM_000702.4(ATP1A2): c.2130C> T (p.Ala710=) single nucleotide variant Conflicting interpretations of pathogenicity rs374749325 1:160105238-160105238 1:160135448-160135448
12 ATP1A3 NM_152296.5(ATP1A3): c.1011C> T (p.Thr337=) single nucleotide variant Conflicting interpretations of pathogenicity rs782312004 19:42486241-42486241 19:41982089-41982089
13 ATP1A3 NM_152296.5(ATP1A3): c.1695C> T (p.Asp565=) single nucleotide variant Conflicting interpretations of pathogenicity rs375255226 19:42482414-42482414 19:41978262-41978262
14 ATP1A3 NM_152296.5(ATP1A3): c.909C> T (p.Leu303=) single nucleotide variant Uncertain significance rs782266448 19:42489154-42489154 19:41985002-41985002
15 ATP1A3 NM_152296.5(ATP1A3): c.-148T> G single nucleotide variant Uncertain significance rs769525784 19:42498376-42498376 19:41994224-41994224
16 ATP1A3 NM_152296.5(ATP1A3): c.2307C> T (p.Thr769=) single nucleotide variant Uncertain significance rs886054473 19:42474651-42474651 19:41970499-41970499
17 ATP1A3 NM_152296.5(ATP1A3): c.1924G> A (p.Val642Ile) single nucleotide variant Uncertain significance rs201391210 19:42482107-42482107 19:41977955-41977955
18 ATP1A3 NM_152296.5(ATP1A3): c.1806+14T> C single nucleotide variant Uncertain significance rs377372631 19:42482289-42482289 19:41978137-41978137
19 ATP1A3 NM_152296.5(ATP1A3): c.607-7C> A single nucleotide variant Uncertain significance rs782819736 19:42489582-42489582 19:41985430-41985430
20 ATP1A3 NM_152296.5(ATP1A3): c.270C> T (p.Phe90=) single nucleotide variant Uncertain significance rs782539594 19:42492175-42492175 19:41988023-41988023
21 ATP1A3 NM_152296.5(ATP1A3): c.153+7C> T single nucleotide variant Uncertain significance rs782082118 19:42492463-42492463 19:41988311-41988311
22 ATP1A3 NM_152296.5(ATP1A3): c.2688+11C> A single nucleotide variant Uncertain significance rs782430886 19:42473576-42473576 19:41969424-41969424
23 ATP1A2 NM_000702.4(ATP1A2): c.285C> T (p.Phe95=) single nucleotide variant Uncertain significance rs886045415 1:160093110-160093110 1:160123320-160123320
24 ATP1A2 NM_000702.4(ATP1A2): c.*147C> T single nucleotide variant Uncertain significance rs574763789 1:160111259-160111259 1:160141469-160141469
25 ATP1A2 NM_000702.4(ATP1A2): c.360G> A (p.Glu120=) single nucleotide variant Uncertain significance rs369061211 1:160093185-160093185 1:160123395-160123395
26 ATP1A2 NM_000702.4(ATP1A2): c.1572G> A (p.Glu524=) single nucleotide variant Uncertain significance rs775192056 1:160100002-160100002 1:160130212-160130212
27 ATP1A2 NM_000702.4(ATP1A2): c.*1630C> T single nucleotide variant Uncertain significance rs886045433 1:160112742-160112742 1:160142952-160142952
28 ATP1A2 NM_000702.4(ATP1A2): c.*910A> G single nucleotide variant Uncertain significance rs886045424 1:160112022-160112022 1:160142232-160142232
29 ATP1A2 NM_000702.4(ATP1A2): c.*1212G> C single nucleotide variant Uncertain significance rs558677583 1:160112324-160112324 1:160142534-160142534
30 ATP1A2 NM_000702.4(ATP1A2): c.*1547_*1548delinsTT indel Uncertain significance rs886045432 1:160112659-160112660 1:160142869-160142870
31 ATP1A2 NM_000702.4(ATP1A2): c.*1815G> C single nucleotide variant Uncertain significance rs886045435 1:160112927-160112927 1:160143137-160143137
32 ATP1A2 NM_000702.4(ATP1A2): c.*2070C> T single nucleotide variant Uncertain significance rs886045437 1:160113182-160113182 1:160143392-160143392
33 ATP1A3 NM_152296.5(ATP1A3): c.*280T> A single nucleotide variant Uncertain significance rs886054472 19:42470809-42470809 19:41966657-41966657
34 ATP1A2 NM_000702.4(ATP1A2): c.*25T> C single nucleotide variant Uncertain significance rs768950032 1:160111137-160111137 1:160141347-160141347
35 ATP1A2 NM_000702.4(ATP1A2): c.*383C> T single nucleotide variant Uncertain significance rs528397631 1:160111495-160111495 1:160141705-160141705
36 ATP1A2 NM_000702.4(ATP1A2): c.*1035A> G single nucleotide variant Uncertain significance rs886045425 1:160112147-160112147 1:160142357-160142357
37 ATP1A2 NM_000702.4(ATP1A2): c.*1207G> T single nucleotide variant Uncertain significance rs566535472 1:160112319-160112319 1:160142529-160142529
38 ATP1A2 NM_000702.4(ATP1A2): c.*1241del deletion Uncertain significance rs886045426 1:160112353-160112353 1:160142563-160142563
39 ATP1A2 NM_000702.4(ATP1A2): c.*1290T> C single nucleotide variant Uncertain significance rs886045428 1:160112402-160112402 1:160142612-160142612
40 ATP1A2 NM_000702.4(ATP1A2): c.*1355C> T single nucleotide variant Uncertain significance rs190096000 1:160112467-160112467 1:160142677-160142677
41 ATP1A2 NM_000702.4(ATP1A2): c.*1643_*1646del deletion Uncertain significance rs533473532 1:160112755-160112758 1:160142965-160142968
42 ATP1A2 NM_000702.4(ATP1A2): c.*2065G> A single nucleotide variant Uncertain significance rs886045436 1:160113177-160113177 1:160143387-160143387
43 ATP1A2 NM_000702.4(ATP1A2): c.-70G> A single nucleotide variant Uncertain significance rs569640199 1:160085582-160085582 1:160115792-160115792
44 ATP1A2 NM_000702.4(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 1:160100381-160100381 1:160130591-160130591
45 ATP1A2 NM_000702.4(ATP1A2): c.111G> A (p.Val37=) single nucleotide variant Uncertain significance rs886045414 1:160090794-160090794 1:160121004-160121004
46 ATP1A2 NM_000702.4(ATP1A2): c.528G> T (p.Met176Ile) single nucleotide variant Uncertain significance rs867416764 1:160094118-160094118 1:160124328-160124328
47 ATP1A2 NM_000702.4(ATP1A2): c.*18C> T single nucleotide variant Uncertain significance rs886045418 1:160111130-160111130 1:160141340-160141340
48 ATP1A2 NM_000702.4(ATP1A2): c.*143G> T single nucleotide variant Uncertain significance rs886045420 1:160111255-160111255 1:160141465-160141465
49 ATP1A2 NM_000702.4(ATP1A2): c.*175C> T single nucleotide variant Uncertain significance rs886045421 1:160111287-160111287 1:160141497-160141497
50 ATP1A2 NM_000702.4(ATP1A2): c.*286G> C single nucleotide variant Uncertain significance rs542623068 1:160111398-160111398 1:160141608-160141608

Expression for Alternating Hemiplegia of Childhood

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

Pathways for Alternating Hemiplegia of Childhood

Pathways related to Alternating Hemiplegia of Childhood according to KEGG:

37
# Name Kegg Source Accession
1 Aldosterone-regulated sodium reabsorption hsa04960
2 Endocrine and other factor-regulated calcium reabsorption hsa04961
3 Proximal tubule bicarbonate reclamation hsa04964

GO Terms for Alternating Hemiplegia of Childhood

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase complex GO:0005890 8.96 ATP1A3 ATP1A2
2 neuronal cell body GO:0043025 8.92 TAC1 SLC1A3 CACNA1A ATP1A3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.95 SLC1A3 FXYD6 CACNA1A ATP1A3 ATP1A2
2 adrenal gland development GO:0030325 9.56 NR5A1 NR0B1
3 cellular sodium ion homeostasis GO:0006883 9.54 ATP1A3 ATP1A2
4 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.52 ATP1A3 ATP1A2
5 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.51 ATP1A3 ATP1A2
6 regulation of blood pressure GO:0008217 9.5 TAC1 CALCA ATP1A2
7 sodium ion export across plasma membrane GO:0036376 9.49 ATP1A3 ATP1A2
8 male sex determination GO:0030238 9.48 NR5A1 NR0B1
9 cellular response to steroid hormone stimulus GO:0071383 9.46 ATP1A3 ATP1A2
10 positive regulation of cytosolic calcium ion concentration GO:0007204 9.46 TAC1 CALCA CACNA1A ADCY5
11 cellular potassium ion homeostasis GO:0030007 9.43 ATP1A3 ATP1A2
12 neuromuscular process controlling balance GO:0050885 9.43 SLC1A3 CACNA1A ADCY5
13 sex determination GO:0007530 9.4 NR5A1 NR0B1
14 neurotransmitter uptake GO:0001504 9.37 SLC1A3 ATP1A2
15 response to glycoside GO:1903416 8.96 ATP1A3 ATP1A2
16 response to pain GO:0048265 8.62 TAC1 CACNA1A

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP1A3 ATP1A2
2 steroid hormone binding GO:1990239 8.62 ATP1A3 ATP1A2

Sources for Alternating Hemiplegia of Childhood

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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