AHC
MCID: ALT001
MIFTS: 53

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 episodic ataxia, type 6, 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 154)
# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 33.2 SLC1A3 PRRT2 CALCA CACNA1A ATP1A3 ATP1A2
2 episodic ataxia, type 6 32.2 SLC1A3 CACNA1A
3 hemiplegia 31.7 TAC1 SLC2A1 SLC1A3 PES1 NR0B1 MMP9
4 movement disease 31.4 SLC2A1 PRRT2 CACNA1A ATP1A3
5 migraine with or without aura 1 31.3 TAC1 SLC1A3 PRRT2 MMP9 CALCA CACNA1A
6 dystonia 12 30.9 SLC2A1 PES1 CACNA1A ATP1A3
7 glut1 deficiency syndrome 2 30.8 SLC2A1 PRRT2
8 headache 30.8 TAC1 CALCA CACNA1A ATP1A2
9 migraine, familial hemiplegic, 1 30.7 SLC1A3 PRRT2 CACNA1A ATP1A2
10 migraine, familial hemiplegic, 2 30.6 SLC1A3 PRRT2 CACNA1A ATP1A3 ATP1A2
11 episodic ataxia 30.6 SLC1A3 PRRT2 CACNA1A ATP1A3 ATP1A2
12 torticollis 30.5 PRRT2 CACNA1A
13 early infantile epileptic encephalopathy 30.4 SLC2A1 PRRT2 CACNA1A ATP1A3 ATP1A2
14 bronchitis 30.4 TAC1 MMP9 CALCA
15 alternating hemiplegia of childhood 2 13.1
16 alternating hemiplegia of childhood 1 13.0
17 benign nocturnal alternating hemiplegia of childhood 12.7
18 adrenal hypoplasia, congenital 12.5
19 medial medullary syndrome 11.6
20 hemiplegia alterans 11.5
21 chromosome xp21 deletion syndrome 11.4
22 conjunctivitis 10.7
23 sporadic hemiplegic migraine 10.7 CACNA1A ATP1A2
24 hereditary episodic ataxia 10.7 SLC1A3 CACNA1A
25 carbamazepine allergy 10.7 TAC1 CALCA
26 acute hemorrhagic conjunctivitis 10.6
27 multiple mucosal neuroma 10.6 PES1 CALCA
28 nonsyndromic disorders of testicular development 10.6 NR5A1 NR0B1
29 episodic ataxia, type 5 10.6 CACNA1A ATP1A2
30 cluster headache 10.6 CALCA CACNA1A
31 paroxysmal choreoathetosis 10.6 SLC2A1 PRRT2
32 plantar fasciitis 10.6 TAC1 PES1
33 perianal hematoma 10.6 TAC1 CALCA
34 dystonia 10.6
35 charcot-marie-tooth disease, axonal, type 2dd 10.6 ATP1A4 ATP1A1
36 familial or sporadic hemiplegic migraine 10.6 PRRT2 CACNA1A ATP1A2
37 46,xy partial gonadal dysgenesis 10.6 NR5A1 NR0B1
38 epicondylitis 10.6 TAC1 PES1 CALCA
39 atp1a3-related neurologic disorders 10.6
40 causalgia 10.6 TAC1 CALCA
41 dystonia, dopa-responsive 10.6 SLC2A1 PRRT2 ATP1A3
42 cerebellar disease 10.6 PES1 CACNA1A ATP1A3
43 detrusor sphincter dyssynergia 10.6 TAC1 CALCA
44 angiokeratoma circumscriptum 10.6 SLC2A1 MMP9
45 electroclinical syndrome 10.6 SLC2A1 PRRT2 CACNA1A
46 hemidystonia 10.6 CACNA1A ATP1A3
47 asymmetric motor neuropathy 10.6 PES1 ALLC
48 myofascial pain syndrome 10.6 TAC1 CALCA
49 sensory peripheral neuropathy 10.6 TAC1 PES1 CALCA
50 multifocal dystonia 10.6 CACNA1A ATP1A3

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 9.77 ADCY5 ATP1A1 ATP1A2 ATP1A3 CACNA1A CTSA
2 homeostasis/metabolism MP:0005376 9.53 ADCY5 ATP1A1 ATP1A2 ATP1A3 ATP1A4 CACNA1A

Drugs & Therapeutics for Alternating Hemiplegia of Childhood

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

(show all 6)
# 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 Anesthetics, General Phase 1, Phase 2
6 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 Completed 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 Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Prospective Observational Natural History and Therapy Study Recruiting NCT04020848
4 Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3 Active, not recruiting NCT00682513
5 Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project Active, not recruiting NCT03857607

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 316)
# Title Authors PMID Year
1
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 6 61
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. 61 6
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
Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood. 61
32489883 2020
10
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2. 61
32454213 2020
11
Social impairments in alternating hemiplegia of childhood. 61
32031250 2020
12
Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype. 61
32348881 2020
13
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. 61
32339621 2020
14
Ketamine Infusion for Super Refractory Status Epilepticus in Alternating Hemiplegia of Childhood. 61
32016945 2020
15
Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases. 61
30550795 2020
16
Magnetic resonance imaging volumetric analysis in patients with Alternating hemiplegia of childhood: A pilot study. 61
32115366 2020
17
Brain volumetrics in alternating hemiplegia of childhood. 61
32376083 2020
18
White matter and cerebellar involvement in alternating hemiplegia of childhood. 61
31950366 2020
19
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia. 61
29895895 2020
20
Epilepsy and brain channelopathies from infancy to adulthood. 61
31838630 2020
21
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time. 61
32123049 2020
22
Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation. 61
32043468 2020
23
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. 61
31959558 2020
24
Management of Alternating Hemiplegia of Childhood: A Review. 61
31836335 2020
25
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
26
Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population. 61
31942761 2020
27
[Alternating hemiplegia]. 61
32323947 2020
28
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations. 61
32280259 2020
29
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. 61
31425744 2019
30
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. 61
31608932 2019
31
Alternating hemiplegia and paroxysmal torticollis caused by SCN4A mutation: A new phenotype? 61
31492720 2019
32
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. 61
31361359 2019
33
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder. 61
31538084 2019
34
The epileptology of alternating hemiplegia of childhood. 61
31484714 2019
35
Monocular nystagmus in a patient with alternating hemiplegia of childhood. 61
31427486 2019
36
ATP1A3 mosaicism in families with alternating hemiplegia of childhood. 61
30891744 2019
37
Physical Therapy for a Patient With Alternating Hemiplegia of Childhood: A Case Report. 61
31220019 2019
38
An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole. 61
30893129 2019
39
Heart rate variability in a patient with alternating hemiplegia. 61
31218164 2019
40
Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities. 61
31158946 2019
41
Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics. 61
30548852 2019
42
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3. 61
30862413 2019
43
Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood. 61
30362107 2019
44
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
45
A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant. 61
30392841 2019
46
Alternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option. 61
30834869 2019
47
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
48
Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood. 61
30621840 2019
49
Fever-related ataxia: a case report of CAPOS syndrome. 61
31410291 2019
50
G-Causality Brain Connectivity Differences of Finger Movements between Motor Execution and Motor Imagery. 61
31662834 2019

Variations for Alternating Hemiplegia of Childhood

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A3 NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn)SNV Likely pathogenic 667000 19:42474628-42474628 19:41970476-41970476
2 ATP1A2 NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile)SNV Uncertain significance 293128 rs867416764 1:160094118-160094118 1:160124328-160124328
3 ATP1A2 NM_000702.4(ATP1A2):c.*1333dupduplication Uncertain significance 293172 rs538086614 1:160112439-160112440 1:160142649-160142650
4 ATP1A2 NM_000702.4(ATP1A2):c.*1482deldeletion Uncertain significance 293174 rs886045430 1:160112594-160112594 1:160142804-160142804
5 ATP1A2 NM_000702.4(ATP1A2):c.*1643_*1646deldeletion Uncertain significance 293181 rs533473532 1:160112752-160112755 1:160142962-160142965
6 ATP1A2 NM_000702.4(ATP1A2):c.*1241deldeletion Uncertain significance 293166 rs886045426 1:160112351-160112351 1:160142561-160142561
7 ATP1A2 NM_000702.4(ATP1A2):c.*1630C>TSNV Uncertain significance 293180 rs886045433 1:160112742-160112742 1:160142952-160142952
8 ATP1A2 NM_000702.4(ATP1A2):c.*1547_*1548delinsTTindel Uncertain significance 293177 rs886045432 1:160112659-160112660 1:160142869-160142870
9 ATP1A3 NM_152296.5(ATP1A3):c.-130_-127GACG[3]short repeat Uncertain significance 329436 rs879996553 19:42498343-42498346 19:41994191-41994194
10 ATP1A3 NM_152296.4(ATP1A3):c.-186G>ASNV Uncertain significance 329438 rs886054478 19:42498414-42498414 19:41994262-41994262
11 ATP1A2 NM_000702.4(ATP1A2):c.*1496deldeletion Benign 293175 rs138196662 1:160112595-160112595 1:160142805-160142805
12 ATP1A2 NM_000702.4(ATP1A2):c.13-11_13-8deldeletion Benign 166705 rs373796693 1:160090682-160090685 1:160120892-160120895

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 SLC2A1 SLC1A3 ATP1A4 ATP1A3 ATP1A2 ATP1A1
2
Show member pathways
12.7 MMP9 ATP1A4 ATP1A3 ATP1A2 ATP1A1
3
Show member pathways
12.56 TAC1 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
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
12.38 ATP1A4 ATP1A3 ATP1A2 ATP1A1
8 12.24 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
9
Show member pathways
12.1 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
10
Show member pathways
11.93 ATP1A4 ATP1A3 ATP1A2 ATP1A1
11 11.85 SLC2A1 ATP1A4 ATP1A3 ATP1A2 ATP1A1
12 11.76 ATP1A4 ATP1A3 ATP1A2 ATP1A1
13 11.66 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
14 11.52 ATP1A4 ATP1A3 ATP1A2 ATP1A1
15 11.46 ATP1A4 ATP1A3 ATP1A2 ATP1A1
16 11.38 ATP1A4 ATP1A3 ATP1A2 ATP1A1
17 11.19 ATP1A4 ATP1A3 ATP1A2 ATP1A1
18 11.05 SLC2A1 ATP1A4 ATP1A3 ATP1A2 ATP1A1 ADCY5
19 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:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.8 TAC1 SLC1A3 PRRT2 GJD2 CACNA1A ATP1A3
2 cell GO:0005623 9.76 TAC1 CALCA CACNA1A ATP1A4 ATP1A3 ATP1A2
3 organelle membrane GO:0031090 9.63 ATP1A3 ATP1A2 ATP1A1
4 sarcolemma GO:0042383 9.61 SLC2A1 ATP1A2 ATP1A1
5 caveola GO:0005901 9.58 SLC2A1 ATP1A2 ATP1A1
6 intercalated disc GO:0014704 9.54 SLC2A1 ATP1A2 ATP1A1
7 neuronal cell body GO:0043025 9.43 TAC1 SLC1A3 CALCA CACNA1A ATP1A3 ATP1A2
8 photoreceptor inner segment membrane GO:0060342 9.32 ATP1A3 ATP1A1
9 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 10.06 SLC1A3 CACNA1A ATP1A4 ATP1A3 ATP1A2 ATP1A1
2 transmembrane transport GO:0055085 10.05 SLC2A1 SLC1A3 GJD2 CACNA1A ATP1A1
3 chemical synaptic transmission GO:0007268 9.93 TAC1 SLC1A3 GJD2 CACNA1A
4 ion transmembrane transport GO:0034220 9.92 CACNA1A ATP1A4 ATP1A3 ATP1A2 ATP1A1
5 positive regulation of cytosolic calcium ion concentration GO:0007204 9.87 TAC1 CALCA CACNA1A ADCY5
6 potassium ion transport GO:0006813 9.86 ATP1A4 ATP1A3 ATP1A2 ATP1A1
7 potassium ion transmembrane transport GO:0071805 9.85 SLC1A3 ATP1A4 ATP1A3 ATP1A2
8 sodium ion transport GO:0006814 9.84 ATP1A4 ATP1A3 ATP1A2 ATP1A1
9 proton transmembrane transport GO:1902600 9.8 SLC25A3 ATP1A4 ATP1A3 ATP1A2 ATP1A1
10 cellular response to mechanical stimulus GO:0071260 9.79 SLC2A1 ATP1A2 ATP1A1
11 regulation of blood pressure GO:0008217 9.78 TAC1 CALCA ATP1A2 ATP1A1
12 neuromuscular process controlling balance GO:0050885 9.75 SLC1A3 CACNA1A ADCY5
13 regulation of cardiac conduction GO:1903779 9.73 ATP1A4 ATP1A3 ATP1A2 ATP1A1
14 response to pain GO:0048265 9.69 TAC1 CALCA CACNA1A
15 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.67 ATP1A3 ATP1A2 ATP1A1
16 potassium ion import across plasma membrane GO:1990573 9.67 ATP1A4 ATP1A3 ATP1A2 ATP1A1
17 regulation of the force of heart contraction GO:0002026 9.65 ATP1A2 ATP1A1
18 response to amyloid-beta GO:1904645 9.65 MMP9 CACNA1A
19 neurotransmitter uptake GO:0001504 9.64 SLC1A3 ATP1A2
20 regulation of cardiac muscle cell contraction GO:0086004 9.64 ATP1A2 ATP1A1
21 male sex determination GO:0030238 9.63 NR5A1 NR0B1
22 cellular response to steroid hormone stimulus GO:0071383 9.63 ATP1A3 ATP1A2 ATP1A1
23 relaxation of cardiac muscle GO:0055119 9.62 ATP1A2 ATP1A1
24 membrane repolarization GO:0086009 9.62 ATP1A2 ATP1A1
25 positive regulation of heart contraction GO:0045823 9.61 ATP1A2 ATP1A1
26 negative regulation of heart contraction GO:0045822 9.6 ATP1A2 ATP1A1
27 sex determination GO:0007530 9.59 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 sodium ion export across plasma membrane GO:0036376 9.46 ATP1A4 ATP1A3 ATP1A2 ATP1A1
31 cellular potassium ion homeostasis GO:0030007 9.26 ATP1A4 ATP1A3 ATP1A2 ATP1A1
32 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 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 cation-transporting ATPase activity GO:0019829 9.4 ATP1A4 ATP1A2
3 steroid hormone binding GO:1990239 9.33 ATP1A3 ATP1A2 ATP1A1
4 potassium ion binding GO:0030955 9.32 ATP1A2 ATP1A1
5 sodium ion binding GO:0031402 9.26 ATP1A2 ATP1A1
6 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP1A4 ATP1A3 ATP1A2 ATP1A1
7 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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