MCID: ALT001
MIFTS: 48

Alternating Hemiplegia of Childhood

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood

MalaCards integrated aliases for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 12 72 72 49 24 55 36 28 13 14 69
Ahc 12 49 55
Alternating Hemiplegia Syndrome 49 24
Alternating Hemiplegia 49 50
Hemiplegia, Crossed 69

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050635
ICD10 32 G98
Orphanet 55 ORPHA2131
MESH via Orphanet 42 C536589
UMLS via Orphanet 70 C0338488
ICD10 via Orphanet 33 G98
KEGG 36 H00998

Summaries for Alternating Hemiplegia of Childhood

NIH Rare Diseases : 49 Alternating hemiplegia of childhood (AHC) is a severe disorder affecting the neurological system of children usually before 18 months of age. Classic AHC causes recurrent episodes of paralysis (hemiplegia) that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Symptoms disappear during sleep and return upon waking. The majority of affected children display some degree of developmental delay, abnormal eye (oculomotor) movements, uncontrolled limb movements (including ataxia, dystonia, and choreoathetosis) and seizures that occur in up to 50% of patients.  Treatment options are limited to therapies that can help with some of the symptoms. The majority of cases of classic AHC are caused by new mutation in the ATP1A3 gene that is not inherited. Thus, most patients with AHC with a mutation in ATP1A3 gene do not have a family history of the disorder.  Additional genes such as CACNA1A and ATP1A2 have been identified in some cases of AHC with an atypical clinical presentation.  ATP1A2 mutations were shown, however, to be more consistent with familial hemiplegic migraine. Last updated: 11/29/2012

MalaCards based summary : Alternating Hemiplegia of Childhood, also known as ahc, is related to adrenal hypoplasia, congenital and familial hemiplegic migraine, and has symptoms including hemiplegia, hemiplegia, post-ictal 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 Sodium oxybate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and skeletal muscle, and related phenotype is 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.

Genetics Home Reference : 24 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.

NINDS : 50 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.

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 all 43)
# Related Disease Score Top Affiliating Genes
1 adrenal hypoplasia, congenital 33.2 GK NR0B1 NR5A1
2 familial hemiplegic migraine 32.5 ATP1A2 ATP1A3 CACNA1A CALCA
3 chromosome xp21 deletion syndrome 31.8 CNR2 GK NR0B1
4 hemiplegia 30.7 ADCY5 ATP1A2 ATP1A3 CACNA1A CALCA SLC1A3
5 hemiplegic migraine 30.4 ATP1A2 ATP1A3 CACNA1A CALCA SLC2A1
6 migraine with or without aura 1 30.2 ATP1A2 ATP1A3 CACNA1A CALCA SLC1A3 TAC1
7 alternating hemiplegia of childhood 2 12.6
8 alternating hemiplegia of childhood 1 12.6
9 benign nocturnal alternating hemiplegia of childhood 12.4
10 acute hemorrhagic conjunctivitis 11.3
11 familial or sporadic hemiplegic migraine 10.5 ATP1A2 CACNA1A
12 sporadic hemiplegic migraine 10.5 ATP1A2 CACNA1A
13 episodic ataxia, type 6 10.4 CACNA1A SLC1A3
14 burn scar 10.4 CALCA TAC1
15 angiokeratoma circumscriptum 10.4 MMP9 SLC2A1
16 episodic ataxia 10.3 ATP1A2 CACNA1A SLC1A3
17 conjunctivitis 10.3
18 anorchia 10.3 NR5A1 SRY
19 aceruloplasminemia 10.2 ATP1A3 CACNA1A SLC2A1
20 vasomotor rhinitis 10.2 CALCA TAC1
21 headache 10.2 ATP1A2 CACNA1A CALCA TAC1
22 adrenal cortical hypofunction 10.2 GK NR0B1 NR5A1
23 46,xy partial gonadal dysgenesis 10.2 NR0B1 NR5A1 SRY
24 46,xx sex reversal 1 10.2 NR0B1 NR5A1 SRY
25 cluster headache 10.2 CACNA1A CALCA
26 hermaphroditism 10.2 NR0B1 SRY
27 46 xy gonadal dysgenesis 10.1 NR0B1 NR5A1 SRY
28 dystonia 10.1
29 glycerol kinase deficiency 10.1 CNR2 GK NR0B1
30 gonadal dysgenesis 10.1 NR0B1 NR5A1 SRY
31 urticaria pigmentosa 10.0 CALCA TAC1
32 wilms tumor 1 10.0 NR0B1 NR5A1 SLC2A1 SRY
33 amyloidosis 10.0
34 cryptorchidism, unilateral or bilateral 10.0 GNRHR NR5A1 SRY
35 cerebritis 9.9
36 gonadal disease 9.9 GNRHR NR0B1 NR5A1 SRY
37 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 9.8
38 epilepsy 9.8
39 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 9.8
40 encephalopathy 9.8
41 hypotonia 9.8
42 infantile hypotonia 9.8
43 kallmann syndrome 9.7 GNRHR NR0B1 NR5A1 PROP1

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

MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 ADCY5 ATP1A2 ATP1A3 CACNA1A 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
Sodium oxybate Approved Phase 1, Phase 2 502-85-2 5360545
2
Glycerol Approved, Investigational Phase 2 56-81-5 753
3 Adjuvants, Anesthesia Phase 1, Phase 2
4 Anesthetics Phase 1, Phase 2
5 Anesthetics, General Phase 1, Phase 2
6 Anesthetics, Intravenous Phase 1, Phase 2
7 Central Nervous System Depressants Phase 1, Phase 2
8 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO) Completed NCT00931164 Phase 1, Phase 2 Sodium Oxybate
2 Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood Active, not recruiting NCT02408354 Phase 2 Triheptanoin;Placebo
3 Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders Recruiting NCT00682513

Search NIH Clinical Center for 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 28

Anatomical Context for Alternating Hemiplegia of Childhood

MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

38
Eye, Testes, Skeletal Muscle, Cortex, Brain

Publications for Alternating Hemiplegia of Childhood

Articles related to Alternating Hemiplegia of Childhood:

(show top 50) (show all 119)
# Title Authors Year
1
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene. ( 29269014 )
2018
2
Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations. ( 28637637 )
2017
3
A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood. ( 28969699 )
2017
4
Motor function domains in alternating hemiplegia of childhood. ( 28543714 )
2017
5
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome. ( 28900444 )
2017
6
Challenges describing motor profiles in alternating hemiplegia of childhood. ( 28556907 )
2017
7
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. ( 28249736 )
2017
8
Diagnosis and Treatment of Alternating Hemiplegia of Childhood. ( 28337648 )
2017
9
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. ( 28716275 )
2017
10
Topiramate Therapy in Alternating Hemiplegia of Childhood. ( 28502069 )
2017
11
Recurrent Focal Seizures and Transient Hemiparesis: Think About Alternating Hemiplegia of Childhood. ( 29395725 )
2017
12
Alternating Hemiplegia of Childhood with Novel Features. ( 28138908 )
2017
13
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation. ( 27146299 )
2016
14
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. ( 27931826 )
2016
15
Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood. ( 27276195 )
2016
16
Recognizable facial features in patients with alternating hemiplegia of childhood. ( 27312461 )
2016
17
Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy. ( 28163531 )
2016
18
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. ( 27634470 )
2016
19
Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study. ( 26999520 )
2016
20
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. ( 26463346 )
2015
21
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. ( 25447930 )
2015
22
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. ( 25523819 )
2015
23
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 26322789 )
2015
24
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. ( 26297560 )
2015
25
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. ( 26410222 )
2015
26
A functional correlate of severity in alternating hemiplegia of childhood. ( 25681536 )
2015
27
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? ( 25662428 )
2015
28
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 25996915 )
2015
29
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. ( 24491413 )
2014
30
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. ( 24824604 )
2014
31
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. ( 24768197 )
2014
32
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. ( 24996492 )
2014
33
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. ( 24631656 )
2014
34
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. ( 24123283 )
2014
35
Genotype-phenotype correlations in alternating hemiplegia of childhood. ( 24431296 )
2014
36
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. ( 24842602 )
2014
37
Alternating hemiplegia of childhood: new diagnostic options. ( 24821639 )
2014
38
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. ( 25056583 )
2014
39
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood. ( 24532324 )
2014
40
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. ( 25439493 )
2014
41
Somatosensory system hyperexcitability in alternating hemiplegia of childhood. ( 25041520 )
2014
42
Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status. ( 24100174 )
2014
43
Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood. ( 23672836 )
2013
44
Benign nocturnal alternating hemiplegia of childhood: A new case with unusual findings. ( 23820111 )
2013
45
Mutations in ATP1A3 cause alternating hemiplegia of childhood. ( 23043298 )
2013
46
Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase I+3 missense mutant mice. ( 23527305 )
2013
47
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
48
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. ( 24356855 )
2013
49
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. ( 22899793 )
2013
50
Alternating hemiplegia of childhood. ( 23622289 )
2013

Variations for Alternating Hemiplegia of Childhood

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 ADCY5 ATP1A2 ATP1A3 NR5A1 SLC2A1
2 11.56 ATP1A2 ATP1A3 SLC2A1
3
Show member pathways
11.49 ATP1A2 CACNA1A SLC1A3
4 11.31 ADCY5 ATP1A2 ATP1A3
5 10.78 ADCY5 ATP1A2 ATP1A3 SLC2A1

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 neuron projection GO:0043005 9.56 ATP1A2 CALCA CNR2 SLC1A3
2 sarcolemma GO:0042383 9.33 ATP1A2 ATP1A3 SLC2A1
3 neuronal cell body GO:0043025 9.1 ATP1A3 CACNA1A CALCA CNR2 SLC1A3 TAC1
4 sodium:potassium-exchanging ATPase complex GO:0005890 8.96 ATP1A2 ATP1A3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.63 ATP1A2 CALCA TAC1
2 adrenal gland development GO:0030325 9.57 NR0B1 NR5A1
3 positive regulation of ossification GO:0045778 9.56 CALCA TAC1
4 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.55 ATP1A2 ATP1A3
5 cellular response to steroid hormone stimulus GO:0071383 9.54 ATP1A2 ATP1A3
6 cellular sodium ion homeostasis GO:0006883 9.52 ATP1A2 ATP1A3
7 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.51 ATP1A2 ATP1A3
8 neuromuscular process controlling balance GO:0050885 9.5 ADCY5 CACNA1A SLC1A3
9 male sex determination GO:0030238 9.49 NR0B1 SRY
10 cellular potassium ion homeostasis GO:0030007 9.48 ATP1A2 ATP1A3
11 sex determination GO:0007530 9.43 NR0B1 NR5A1
12 positive regulation of male gonad development GO:2000020 9.4 NR5A1 SRY
13 sodium ion export across plasma membrane GO:0036376 9.37 ATP1A2 ATP1A3
14 response to glycoside GO:1903416 9.26 ATP1A2 ATP1A3
15 positive regulation of cytosolic calcium ion concentration GO:0007204 9.26 ADCY5 CACNA1A CALCA TAC1
16 neurotransmitter uptake GO:0001504 9.16 ATP1A2 SLC1A3
17 response to pain GO:0048265 8.8 CACNA1A CALCA TAC1

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 ATP1A2 ATP1A3
2 steroid hormone binding GO:1990239 8.62 ATP1A2 ATP1A3

Sources for Alternating Hemiplegia of Childhood

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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