AHC
MCID: ALT001
MIFTS: 56

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 74 52 25 58 36 29 6 43 15 71
Alternating Hemiplegia 52 53 58
Ahc 12 52 58
Alternating Hemiplegia Syndrome 52 25
Hemiplegia, Alternating, of Childhood 39
Hemiplegia, Crossed 71

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050635
KEGG 36 H00998
MeSH 43 C536589
ICD10 32 G98
MESH via Orphanet 44 C536589
ICD10 via Orphanet 33 G98
UMLS via Orphanet 72 C0338488
UMLS 71 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 familial hemiplegic migraine and hemiplegia, 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 Reduced mammosphere formation and behavior/neurological

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 : 52 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 : 53 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 : 36 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 : 74 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 161)
# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 33.1 SLC1A3 SCN1A PRRT2 CALCA CACNA1A ATP1A3
2 hemiplegia 31.5 TAC1 SLC2A1 SLC1A3 SCN1A PES1 NR0B1
3 dystonia 31.5 SLC2A1 PRRT2 CIZ1 CACNA1A ATP1A3 ADCY5
4 migraine with or without aura 1 31.3 TAC1 SLC1A3 SCN1A PRRT2 CALCA CACNA1A
5 movement disease 31.3 SLC2A1 PRRT2 CIZ1 CACNA1A ATP1A3
6 hemiplegic migraine 31.2 SLC2A1 SCN1A PRRT2 CALCA CACNA1A ATP1A3
7 visual epilepsy 31.1 SLC2A1 SCN1A PRRT2 ATP1A3
8 aceruloplasminemia 31.1 SLC2A1 SLC1A3 PES1 CACNA1A ATP1A3
9 dystonia 12 31.0 PES1 CACNA1A ATP1A3
10 epilepsy 31.0 SLC2A1 SCN1A PRRT2 CACNA1A ATP1A3 ATP1A2
11 glut1 deficiency syndrome 2 30.8 SLC2A1 PRRT2
12 headache 30.8 TAC1 SCN1A CALCA CACNA1A ATP1A2
13 benign epilepsy with centrotemporal spikes 30.6 SLC2A1 SCN1A PRRT2 CACNA1A ATP1A2
14 torticollis 30.6 PRRT2 CIZ1 CACNA1A
15 episodic ataxia 30.5 SLC1A3 SCN1A PRRT2 CACNA1A ATP1A3 ATP1A2
16 bronchitis 30.4 TAC1 MMP9 CALCA
17 early infantile epileptic encephalopathy 30.3 SLC2A1 SCN1A PRRT2 CACNA1A ATP1A3 ATP1A2
18 alternating hemiplegia of childhood 2 13.1
19 alternating hemiplegia of childhood 1 13.0
20 benign nocturnal alternating hemiplegia of childhood 12.7
21 adrenal hypoplasia, congenital 12.5
22 medial medullary syndrome 11.6
23 hemiplegia alterans 11.5
24 chromosome xp21 deletion syndrome 11.4
25 episodic ataxia, type 6 11.3
26 conjunctivitis 10.7
27 hereditary episodic ataxia 10.7 SLC1A3 CACNA1A
28 carbamazepine allergy 10.7 TAC1 CALCA
29 multiple mucosal neuroma 10.6 PES1 CALCA
30 acute hemorrhagic conjunctivitis 10.6
31 perianal hematoma 10.6 TAC1 CALCA
32 sporadic hemiplegic migraine 10.6 SCN1A CACNA1A ATP1A2
33 nonsyndromic disorders of testicular development 10.6 NR5A1 NR0B1
34 paroxysmal choreoathetosis 10.6 SLC2A1 PRRT2
35 episodic ataxia, type 5 10.6 CACNA1A ATP1A2
36 plantar fasciitis 10.6 TAC1 PES1
37 calcific tendinitis 10.6 TAC1 PES1
38 epicondylitis 10.6 TAC1 PES1 CALCA
39 cluster headache 10.6 CALCA CACNA1A
40 multifocal dystonia 10.6 CIZ1 CACNA1A ATP1A3
41 dystonia, dopa-responsive 10.6 SLC2A1 PRRT2 ATP1A3
42 nerve compression syndrome 10.6 TAC1 PES1 CALCA
43 kohler's disease 10.6 PES1 CALCA
44 angiokeratoma circumscriptum 10.6 SLC2A1 MMP9
45 spinocerebellar ataxia 6 10.6 SCN1A CACNA1A ATP1A2
46 46,xy partial gonadal dysgenesis 10.6 NR5A1 NR0B1
47 atp1a3-related neurologic disorders 10.6
48 episodic ataxia, type 2 10.6 SCN1A CACNA1A ATP1A2
49 cerebellar disease 10.6 PES1 CACNA1A ATP1A3
50 myofascial pain syndrome 10.6 TAC1 CALCA

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

GenomeRNAi Phenotypes related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 ATP1A1 ATP1A3 ATP1A4 CTSA GJD2 NR0B1

MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADCY5 ATP1A1 ATP1A2 ATP1A3 CACNA1A CIZ1
2 homeostasis/metabolism MP:0005376 9.83 ADCY5 ATP1A1 ATP1A2 ATP1A3 ATP1A4 CACNA1A
3 nervous system MP:0003631 9.36 ATP1A2 ATP1A3 CACNA1A GJD2 MMP9 NR5A1

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 Anesthetics Phase 1, Phase 2
5 Adjuvants, Anesthesia Phase 1, Phase 2
6 Central Nervous System Depressants 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:

40
Eye, Skin, Brain, Testes, Cortex, Heart, Smooth Muscle

Publications for Alternating Hemiplegia of Childhood

Articles related to Alternating Hemiplegia of Childhood:

(show top 50) (show all 301)
# Title Authors PMID Year
1
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 61 6
24842602 2014
2
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 6 61
22850527 2012
3
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 6 61
22842232 2012
4
ATP1A3-Related Neurologic Disorders 6 61
20301294 2008
5
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 6 61
15286158 2004
6
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. 6 61
15174025 2004
7
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. 6 61
14667076 2003
8
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 6
19652145 2009
9
Epilepsy and brain channelopathies from infancy to adulthood. 61
31838630 2019
10
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. 61
31425744 2019
11
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. 61
31608932 2019
12
Management of Alternating Hemiplegia of Childhood: A Review. 61
31836335 2019
13
Alternating hemiplegia and paroxysmal torticollis caused by SCN4A mutation: A new phenotype? 61
31492720 2019
14
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. 61
31361359 2019
15
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder. 61
31538084 2019
16
The epileptology of alternating hemiplegia of childhood. 61
31484714 2019
17
Monocular nystagmus in a patient with alternating hemiplegia of childhood. 61
31427486 2019
18
ATP1A3 mosaicism in families with alternating hemiplegia of childhood. 61
30891744 2019
19
Physical Therapy for a Patient With Alternating Hemiplegia of Childhood: A Case Report. 61
31220019 2019
20
Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities. 61
31158946 2019
21
Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics. 61
30548852 2019
22
An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole. 61
30893129 2019
23
Heart rate variability in a patient with alternating hemiplegia. 61
31218164 2019
24
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3. 61
30862413 2019
25
Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood. 61
30362107 2019
26
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition. 61
30650451 2019
27
A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant. 61
30392841 2019
28
Alternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option. 61
30834869 2019
29
Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood. 61
30621840 2019
30
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing. 61
30657467 2019
31
Fever-related ataxia: a case report of CAPOS syndrome. 61
31410291 2019
32
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2019
33
G-Causality Brain Connectivity Differences of Finger Movements between Motor Execution and Motor Imagery. 61
31662834 2019
34
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. 61
30423015 2018
35
Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome. 61
30562231 2018
36
Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases. 61
30550795 2018
37
[Genotype-phenotype correlation in patients with alternating hemiplegia of childhood]. 61
30392204 2018
38
Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal. 61
30194039 2018
39
Novel E815K knock-in mouse model of alternating hemiplegia of childhood. 61
30071271 2018
40
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations. 61
29861155 2018
41
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. 61
29801192 2018
42
Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review. 61
30011403 2018
43
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. 61
29922587 2018
44
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations. 61
29397530 2018
45
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report. 61
29625811 2018
46
Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction. 61
29889309 2018
47
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. 61
29967203 2018
48
Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. 61
29567111 2018
49
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia. 61
29895895 2018
50
ATP1A3-related epileptic encephalopathy responding to ketogenic diet. 61
29395663 2018

Variations for Alternating Hemiplegia of Childhood

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood:

6 (show top 50) (show all 137) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A3 NC_000019.10:g.41970476A>Tundetermined variant Likely pathogenic 667000
2 ATP1A3 NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)SNV Conflicting interpretations of pathogenicity 329411 rs781822752 19:42482126-42482126 19:41977974-41977974
3 ATP1A2 NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)SNV Conflicting interpretations of pathogenicity 293126 rs148929192 1:160093164-160093164 1:160123374-160123374
4 ATP1A2 NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=)SNV Conflicting interpretations of pathogenicity 293134 rs374749325 1:160105238-160105238 1:160135448-160135448
5 ATP1A3 NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)SNV Conflicting interpretations of pathogenicity 329421 rs782312004 19:42486241-42486241 19:41982089-41982089
6 ATP1A3 NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)SNV Conflicting interpretations of pathogenicity 329415 rs375255226 19:42482414-42482414 19:41978262-41978262
7 ATP1A3 NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)SNV Conflicting interpretations of pathogenicity 157924 rs34578730 19:42485768-42485768 19:41981616-41981616
8 ATP1A2 NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)SNV Conflicting interpretations of pathogenicity 194183 rs141467566 1:160100226-160100226 1:160130436-160130436
9 ATP1A2 NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)SNV Conflicting interpretations of pathogenicity 195466 rs146839867 1:160106732-160106732 1:160136942-160136942
10 ATP1A2 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)SNV Conflicting interpretations of pathogenicity 197162 rs187733403 1:160093019-160093019 1:160123229-160123229
11 ATP1A2 NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=)SNV Conflicting interpretations of pathogenicity 204869 rs55741021 1:160098516-160098516 1:160128726-160128726
12 ATP1A2 NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)SNV Conflicting interpretations of pathogenicity 204888 rs142348542 1:160099904-160099904 1:160130114-160130114
13 ATP1A2 NM_000702.4(ATP1A2):c.1652-7C>ASNV Conflicting interpretations of pathogenicity 136450 rs200102433 1:160100205-160100205 1:160130415-160130415
14 ATP1A2 NM_000702.4(ATP1A2):c.627T>C (p.Cys209=)SNV Conflicting interpretations of pathogenicity 293129 rs139229302 1:160094217-160094217 1:160124427-160124427
15 ATP1A2 NM_000702.4(ATP1A2):c.*25T>CSNV Uncertain significance 293136 rs768950032 1:160111137-160111137 1:160141347-160141347
16 ATP1A2 NM_000702.4(ATP1A2):c.*383C>TSNV Uncertain significance 293145 rs528397631 1:160111495-160111495 1:160141705-160141705
17 ATP1A2 NM_000702.4(ATP1A2):c.*1290T>CSNV Uncertain significance 293171 rs886045428 1:160112402-160112402 1:160142612-160142612
18 ATP1A2 NM_000702.4(ATP1A2):c.*1355C>TSNV Uncertain significance 293173 rs190096000 1:160112467-160112467 1:160142677-160142677
19 ATP1A2 NM_000702.4(ATP1A2):c.*1643_*1646deldeletion Uncertain significance 293181 rs533473532 1:160112755-160112758 1:160142965-160142968
20 ATP1A2 NM_000702.4(ATP1A2):c.*1035A>GSNV Uncertain significance 293161 rs886045425 1:160112147-160112147 1:160142357-160142357
21 ATP1A2 NM_000702.4(ATP1A2):c.*1207G>TSNV Uncertain significance 293163 rs566535472 1:160112319-160112319 1:160142529-160142529
22 ATP1A2 NM_000702.4(ATP1A2):c.*1241deldeletion Uncertain significance 293166 rs886045426 1:160112353-160112353 1:160142563-160142563
23 ATP1A2 NM_000702.4(ATP1A2):c.*2065G>ASNV Uncertain significance 293186 rs886045436 1:160113177-160113177 1:160143387-160143387
24 ATP1A2 NM_000702.4(ATP1A2):c.-70G>ASNV Uncertain significance 293123 rs569640199 1:160085582-160085582 1:160115792-160115792
25 ATP1A2 NM_000702.4(ATP1A2):c.*1630C>TSNV Uncertain significance 293180 rs886045433 1:160112742-160112742 1:160142952-160142952
26 ATP1A2 NM_000702.4(ATP1A2):c.*1953T>CSNV Uncertain significance 293185 rs767882535 1:160113065-160113065 1:160143275-160143275
27 ATP1A2 NM_000702.4(ATP1A2):c.*2147T>GSNV Uncertain significance 293188 rs886045438 1:160113259-160113259 1:160143469-160143469
28 ATP1A2 NM_000702.4(ATP1A2):c.631-6C>TSNV Uncertain significance 293130 rs886045416 1:160094920-160094920 1:160125130-160125130
29 ATP1A2 NM_000702.4(ATP1A2):c.754G>A (p.Ala252Thr)SNV Uncertain significance 293131 rs886045417 1:160097347-160097347 1:160127557-160127557
30 ATP1A2 NM_000702.4(ATP1A2):c.1674A>G (p.Pro558=)SNV Uncertain significance 293133 rs769798147 1:160100234-160100234 1:160130444-160130444
31 ATP1A2 NM_000702.4(ATP1A2):c.*120A>GSNV Uncertain significance 293138 rs886045419 1:160111232-160111232 1:160141442-160141442
32 ATP1A2 NM_000702.4(ATP1A2):c.*1333dupduplication Uncertain significance 293172 rs538086614 1:160112445-160112445 1:160142655-160142655
33 ATP1A2 NM_000702.4(ATP1A2):c.*1482deldeletion Uncertain significance 293174 rs886045430 1:160112594-160112594 1:160142804-160142804
34 ATP1A2 NM_000702.4(ATP1A2):c.*870G>ASNV Uncertain significance 293155 rs886045423 1:160111982-160111982 1:160142192-160142192
35 ATP1A2 NM_000702.4(ATP1A2):c.*932T>CSNV Uncertain significance 293157 rs183455719 1:160112044-160112044 1:160142254-160142254
36 ATP1A2 NM_000702.4(ATP1A2):c.*648A>GSNV Uncertain significance 293149 rs886045422 1:160111760-160111760 1:160141970-160141970
37 ATP1A2 NM_000702.4(ATP1A2):c.*1000T>ASNV Uncertain significance 293158 rs116194737 1:160112112-160112112 1:160142322-160142322
38 ATP1A2 NM_000702.4(ATP1A2):c.*1245A>CSNV Uncertain significance 293167 rs886045427 1:160112357-160112357 1:160142567-160142567
39 ATP1A2 NM_000702.4(ATP1A2):c.*1284C>ASNV Uncertain significance 293169 rs78507938 1:160112396-160112396 1:160142606-160142606
40 ATP1A2 NM_000702.4(ATP1A2):c.111G>A (p.Val37=)SNV Uncertain significance 293124 rs886045414 1:160090794-160090794 1:160121004-160121004
41 ATP1A2 NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile)SNV Uncertain significance 293128 rs867416764 1:160094118-160094118 1:160124328-160124328
42 ATP1A2 NM_000702.4(ATP1A2):c.*18C>TSNV Uncertain significance 293135 rs886045418 1:160111130-160111130 1:160141340-160141340
43 ATP1A2 NM_000702.4(ATP1A2):c.*143G>TSNV Uncertain significance 293140 rs886045420 1:160111255-160111255 1:160141465-160141465
44 ATP1A2 NM_000702.4(ATP1A2):c.*175C>TSNV Uncertain significance 293142 rs886045421 1:160111287-160111287 1:160141497-160141497
45 ATP1A2 NM_000702.4(ATP1A2):c.*286G>CSNV Uncertain significance 293144 rs542623068 1:160111398-160111398 1:160141608-160141608
46 ATP1A2 NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=)SNV Uncertain significance 204892 rs771085157 1:160100381-160100381 1:160130591-160130591
47 ATP1A3 NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)SNV Uncertain significance 329407 rs886054473 19:42474651-42474651 19:41970499-41970499
48 ATP1A3 NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile)SNV Uncertain significance 329410 rs201391210 19:42482107-42482107 19:41977955-41977955
49 ATP1A3 NM_152296.5(ATP1A3):c.1806+14T>CSNV Uncertain significance 329412 rs377372631 19:42482289-42482289 19:41978137-41978137
50 ATP1A3 NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)SNV Uncertain significance 329423 rs782266448 19:42489154-42489154 19:41985002-41985002

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:

36
# 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

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 SLC2A1 SLC1A3 ATP1A4 ATP1A3 ATP1A2 ATP1A1
2
Show member pathways
12.71 SCN1A ATP1A4 ATP1A3 ATP1A2 ATP1A1
3
Show member pathways
12.69 MMP9 ATP1A4 ATP1A3 ATP1A2 ATP1A1
4
Show member pathways
12.53 SLC2A1 NR5A1 NR0B1 ATP1A4 ATP1A3 ATP1A2
5
Show member pathways
12.46 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
6
Show member pathways
12.44 GJD2 CALCA CACNA1A ATP1A4 ADCY5
7
Show member pathways
12.39 ATP1A4 ATP1A3 ATP1A2 ATP1A1
8
Show member pathways
12.39 TAC1 SCN1A ATP1A4 ATP1A3 ATP1A2 ATP1A1
9 12.26 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
10
Show member pathways
12.11 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
11
Show member pathways
11.93 ATP1A4 ATP1A3 ATP1A2 ATP1A1
12 11.88 SLC2A1 ATP1A4 ATP1A3 ATP1A2 ATP1A1
13 11.75 ATP1A4 ATP1A3 ATP1A2 ATP1A1
14 11.73 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
15 11.54 ATP1A4 ATP1A3 ATP1A2 ATP1A1
16 11.48 ATP1A4 ATP1A3 ATP1A2 ATP1A1
17 11.41 ATP1A4 ATP1A3 ATP1A2 ATP1A1
18 11.24 ATP1A4 ATP1A3 ATP1A2 ATP1A1
19 10.96 SLC2A1 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
20 10.62 ATP1A4 ATP1A3 ATP1A2 ATP1A1

GO Terms for Alternating Hemiplegia of Childhood

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.37 SLC2A1 SLC25A3 SLC1A3 SCN1A PRRT2 PES1
2 plasma membrane GO:0005886 10.25 TAC1 SLC2A1 SLC1A3 SCN1A PRRT2 GJD2
3 cell GO:0005623 9.92 TAC1 CALCA CACNA1A ATP1A4 ATP1A3 ATP1A2
4 synapse GO:0045202 9.8 TAC1 SLC1A3 PRRT2 GJD2 CACNA1A ATP1A3
5 sarcolemma GO:0042383 9.65 SLC2A1 ATP1A2 ATP1A1
6 caveola GO:0005901 9.63 SLC2A1 ATP1A2 ATP1A1
7 neuronal cell body GO:0043025 9.63 TAC1 SLC1A3 SCN1A CALCA CACNA1A ATP1A3
8 extracellular vesicle GO:1903561 9.58 ATP1A3 ATP1A2 ATP1A1
9 T-tubule GO:0030315 9.54 SCN1A ATP1A2 ATP1A1
10 intercalated disc GO:0014704 9.26 SLC2A1 SCN1A ATP1A2 ATP1A1
11 sodium:potassium-exchanging ATPase complex GO:0005890 8.92 ATP1A4 ATP1A3 ATP1A2 ATP1A1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.07 SLC1A3 SCN1A CACNA1A ATP1A4 ATP1A3 ATP1A2
2 chemical synaptic transmission GO:0007268 9.91 TAC1 SLC1A3 GJD2 CACNA1A
3 ion transmembrane transport GO:0034220 9.91 SCN1A CACNA1A ATP1A4 ATP1A3 ATP1A2 ATP1A1
4 positive regulation of cytosolic calcium ion concentration GO:0007204 9.86 TAC1 CALCA CACNA1A ADCY5
5 potassium ion transport GO:0006813 9.85 ATP1A4 ATP1A3 ATP1A2 ATP1A1
6 regulation of membrane potential GO:0042391 9.83 SCN1A CACNA1A ATP1A4
7 regulation of blood pressure GO:0008217 9.8 TAC1 CALCA ATP1A2 ATP1A1
8 sodium ion transport GO:0006814 9.8 SCN1A ATP1A4 ATP1A3 ATP1A2 ATP1A1
9 cellular response to mechanical stimulus GO:0071260 9.77 SLC2A1 ATP1A2 ATP1A1
10 regulation of cardiac conduction GO:1903779 9.76 ATP1A4 ATP1A3 ATP1A2 ATP1A1
11 neuromuscular process controlling balance GO:0050885 9.74 SLC1A3 CACNA1A ADCY5
12 response to pain GO:0048265 9.71 TAC1 CALCA CACNA1A
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 ATP1A3 ATP1A2 ATP1A1
14 potassium ion import across plasma membrane GO:1990573 9.67 ATP1A4 ATP1A3 ATP1A2 ATP1A1
15 regulation of the force of heart contraction GO:0002026 9.65 ATP1A2 ATP1A1
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 SCN1A ATP1A1
17 cellular response to steroid hormone stimulus GO:0071383 9.65 ATP1A3 ATP1A2 ATP1A1
18 response to amyloid-beta GO:1904645 9.64 MMP9 CACNA1A
19 maintenance of protein location in nucleus GO:0051457 9.64 NR5A1 CIZ1
20 regulation of cardiac muscle cell contraction GO:0086004 9.63 ATP1A2 ATP1A1
21 neuromuscular process controlling posture GO:0050884 9.63 SCN1A PRRT2
22 male sex determination GO:0030238 9.62 NR5A1 NR0B1
23 relaxation of cardiac muscle GO:0055119 9.62 ATP1A2 ATP1A1
24 membrane repolarization GO:0086009 9.61 ATP1A2 ATP1A1
25 negative regulation of heart contraction GO:0045822 9.59 ATP1A2 ATP1A1
26 neurotransmitter uptake GO:0001504 9.58 SLC1A3 ATP1A2
27 sex determination GO:0007530 9.58 NR5A1 NR0B1
28 cellular sodium ion homeostasis GO:0006883 9.56 ATP1A4 ATP1A3 ATP1A2 ATP1A1
29 response to glycoside GO:1903416 9.5 ATP1A3 ATP1A2 ATP1A1
30 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.46 ATP1A4 ATP1A3 ATP1A2 ATP1A1
31 sodium ion export across plasma membrane GO:0036376 9.26 ATP1A4 ATP1A3 ATP1A2 ATP1A1
32 cellular potassium ion homeostasis GO:0030007 8.92 ATP1A4 ATP1A3 ATP1A2 ATP1A1

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

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.54 ATP1A3 ATP1A2 ATP1A1
2 steroid hormone binding GO:1990239 9.33 ATP1A3 ATP1A2 ATP1A1
3 potassium ion binding GO:0030955 9.32 ATP1A2 ATP1A1
4 sodium ion binding GO:0031402 9.26 ATP1A2 ATP1A1
5 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP1A4 ATP1A3 ATP1A2 ATP1A1
6 potassium-transporting ATPase activity GO:0008556 8.92 ATP1A4 ATP1A3 ATP1A2 ATP1A1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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