AHC1
MCID: ALT001
MIFTS: 50

Alternating Hemiplegia of Childhood (AHC1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood

Aliases & Descriptions for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 54 12 50 24 25 56 29 13 14 69
Alternating Hemiplegia of Childhood 1 66 29 69
Ahc 12 50 56
Alternating Hemiplegia Syndrome 50 25
Alternating Hemiplegia 50 51
Hemiplegia, Crossed 69
Ahc1 66

Characteristics:

Orphanet epidemiological data:

56
alternating hemiplegia of childhood
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Denmark); Age of onset: Infancy; Age of death: any age;

HPO:

32
alternating hemiplegia of childhood:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 104290
Disease Ontology 12 DOID:0050635
ICD10 33 G98
Orphanet 56 ORPHA2131
MESH via Orphanet 43 C536589
UMLS via Orphanet 70 C0338488
ICD10 via Orphanet 34 G98
MeSH 42 D006429

Summaries for Alternating Hemiplegia of Childhood

NIH Rare Diseases : 50 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 alternating hemiplegia of childhood 1, is related to infantile hypotonia and alternating hemiplegia of childhood 2, and has symptoms including dystonia, nystagmus and intellectual disability. 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 Thyroid hormone signaling pathway and Synaptic vesicle cycle. The drugs Sodium oxybate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and skeletal muscle.

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 : 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.

OMIM : 54 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most... (104290) more...

NINDS : 51 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.

UniProtKB/Swiss-Prot : 66 Alternating hemiplegia of childhood 1: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.

Wikipedia : 71 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain cause, though... more...

Related Diseases for Alternating Hemiplegia of Childhood

Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 2 Atp1a2-Related Alternating Hemiplegia of Childhood
Atp1a3-Related Alternating Hemiplegia of Childhood

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 infantile hypotonia 29.8 ATP1A2 CACNA1A CALCA TAC1
2 alternating hemiplegia of childhood 2 12.5
3 benign familial nocturnal alternating hemiplegia of childhood 12.3
4 atp1a2-related alternating hemiplegia of childhood 12.2
5 atp1a3-related alternating hemiplegia of childhood 12.2
6 adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 11.7
7 familial hemiplegic migraine 11.3
8 acute hemorrhagic conjunctivitis 11.2
9 x-linked adrenal hypoplasia congenita 11.2
10 chromosome xp21 deletion syndrome 10.9
11 hemiplegia 10.7
12 atrial fibrillation and stroke 10.3 ATP1A2 CACNA1A
13 acro-pectoro-renal dysplasia 10.3 ATP1A2 CACNA1A
14 conjunctivitis 10.2
15 placental abruption 10.2 ATP1A2 CACNA1A SLC1A3
16 laron dwarfism 10.2 CACNA1A SLC1A3
17 microscopic colitis 10.2 ATP1A2 CACNA1A CALCA
18 cytomegalovirus retinitis 10.2 GK NR0B1 NR5A1
19 duchenne muscular dystrophy 10.2 GK NR0B1 NR5A1
20 abl1 kd-related altered drug metabolism 10.2 NR0B1 NR5A1 SRY
21 centrotemporal epilepsy 10.2 NR0B1 NR5A1
22 autosomal dominant optic atrophy and late-onset deafness 10.2 NR0B1 NR5A1 SRY
23 parkinsonism with spasticity, x-linked 10.1 CNR2 GK NR0B1
24 cartilage disease 10.1 CALCA TAC1
25 antisynthetase syndrome 10.1 NR5A1 SRY
26 cardiomyopathy, dilated, 3b 10.1 CNR2 GK NR0B1
27 microcephaly 13, primary, autosomal recessive 10.1 ATP1A2 CACNA1A CALCA TAC1
28 farmer's lung 10.1 NR0B1 NR5A1 SRY
29 46 xx gonadal dysgenesis 10.1 NR0B1 NR5A1 SRY
30 hemorrhagic shock and encephalopathy syndrome 10.1 ATP1A2 ATP1A3 CACNA1A CALCA SLC2A1
31 kidney osteogenic sarcoma 10.1 MMP9 SLC2A1
32 dystonia 10.1
33 hemiplegic migraine 10.1
34 epidural neoplasm 10.0 GNRHR NR0B1 NR5A1 PROP1
35 amyloidosis 9.9
36 cerebritis 9.9
37 encephalopathy 9.7
38 capos syndrome 9.7
39 hypotonia 9.7
40 epilepsy 9.7
41 salpingo-oophoritis 9.5 ATP1A2 ATP1A3 CACNA1A CALCA GK MMP9
42 deafness, autosomal dominant 7 7.9 ATP1A2 ATP1A3 CACNA1A CALCA CBARP CNR2

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

Symptoms by clinical synopsis from OMIM:

104290

Clinical features from OMIM:

104290

Human phenotypes related to Alternating Hemiplegia of Childhood:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 nystagmus 32 HP:0000639
3 intellectual disability 32 HP:0001249
4 generalized tonic-clonic seizures 32 HP:0002069
5 mental deterioration 32 HP:0001268
6 choreoathetosis 32 HP:0001266
7 episodic hemiplegia 32 HP:0012194
8 episodic quadriplegia 32 HP:0200072

UMLS symptoms related to Alternating Hemiplegia of Childhood:


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

Drugs & Therapeutics for Alternating Hemiplegia of Childhood

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium oxybate Approved Phase 1, Phase 2 502-85-2 5360545
2
Glycerol Approved, Experimental 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:


id Name Status NCT ID Phase
1 Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO) Completed NCT00931164 Phase 1, Phase 2
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
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:

id Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood 1 29
2 Alternating Hemiplegia of Childhood 29 24 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

39
Eye, Testes, Skeletal Muscle, Cortex

Publications for Alternating Hemiplegia of Childhood

Articles related to Alternating Hemiplegia of Childhood:

(show top 50) (show all 111)
id Title Authors Year
1
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. ( 28249736 )
2017
2
Diagnosis and Treatment of Alternating Hemiplegia of Childhood. ( 28337648 )
2017
3
Topiramate Therapy in Alternating Hemiplegia of Childhood. ( 28502069 )
2017
4
Alternating Hemiplegia of Childhood with Novel Features. ( 28138908 )
2017
5
Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy. ( 28163531 )
2016
6
Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study. ( 26999520 )
2016
7
Recognizable facial features in patients with alternating hemiplegia of childhood. ( 27312461 )
2016
8
Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood. ( 27276195 )
2016
9
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. ( 27634470 )
2016
10
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation. ( 27146299 )
2016
11
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. ( 27931826 )
2016
12
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? ( 25662428 )
2015
13
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 25996915 )
2015
14
A functional correlate of severity in alternating hemiplegia of childhood. ( 25681536 )
2015
15
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. ( 26297560 )
2015
16
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. ( 25523819 )
2015
17
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. ( 26463346 )
2015
18
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. ( 25447930 )
2015
19
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. ( 26410222 )
2015
20
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. ( 26322789 )
2015
21
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. ( 24768197 )
2014
22
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. ( 24842602 )
2014
23
Alternating hemiplegia of childhood in Denmark: Clinical manifestations and ATP1A3 mutation status. ( 24100174 )
2014
24
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. ( 24824604 )
2014
25
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood. ( 24532324 )
2014
26
Alternating hemiplegia of childhood: new diagnostic options. ( 24821639 )
2014
27
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. ( 25439493 )
2014
28
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. ( 24996492 )
2014
29
Somatosensory system hyperexcitability in alternating hemiplegia of childhood. ( 25041520 )
2014
30
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. ( 25056583 )
2014
31
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. ( 24123283 )
2014
32
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. ( 24491413 )
2014
33
Genotype-phenotype correlations in alternating hemiplegia of childhood. ( 24431296 )
2014
34
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. ( 24631656 )
2014
35
Alternating hemiplegia of childhood. ( 23622289 )
2013
36
Mutations in ATP1A3 cause alternating hemiplegia of childhood. ( 23043298 )
2013
37
Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase I+3 missense mutant mice. ( 23527305 )
2013
38
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. ( 22899793 )
2013
39
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
40
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. ( 23409136 )
2013
41
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. ( 24356855 )
2013
42
Benign nocturnal alternating hemiplegia of childhood: A new case with unusual findings. ( 23820111 )
2013
43
Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood. ( 23672836 )
2013
44
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients. ( 21945173 )
2012
45
Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations. ( 23460948 )
2012
46
Alternating hemiplegia of childhood in chinese following long-term treatment with flunarizine or topiramate. ( 22494152 )
2012
47
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. ( 22842232 )
2012
48
Child neurology: benign nocturnal alternating hemiplegia of childhood. ( 23109658 )
2012
49
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. ( 22850527 )
2012
50
Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology. ( 21550738 )
2012

Variations for Alternating Hemiplegia of Childhood

UniProtKB/Swiss-Prot genetic disease variations for Alternating Hemiplegia of Childhood:

66
id Symbol AA change Variation ID SNP ID
1 ATP1A2 p.Thr378Asn VAR_019934 rs28934002

ClinVar genetic disease variations for Alternating Hemiplegia of Childhood:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn) single nucleotide variant Pathogenic rs28934002 GRCh37 Chromosome 1, 160098557: 160098557

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.4 ATP1A2 ATP1A3 SLC2A1
2
Show member pathways
11.19 ATP1A2 CACNA1A SLC1A3
3 10.65 ATP1A2 ATP1A3 SLC2A1

GO Terms for Alternating Hemiplegia of Childhood

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.46 ATP1A2 CALCA CNR2 SLC1A3
2 neuronal cell body GO:0043025 9.1 ATP1A3 CACNA1A CALCA CNR2 SLC1A3 TAC1
3 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 18)
id Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.65 ATP1A2 CALCA TAC1
2 adrenal gland development GO:0030325 9.58 NR0B1 NR5A1
3 positive regulation of ossification GO:0045778 9.57 CALCA TAC1
4 hormone metabolic process GO:0042445 9.56 CACNA1A NR5A1
5 cellular sodium ion homeostasis GO:0006883 9.55 ATP1A2 ATP1A3
6 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.54 ATP1A2 ATP1A3
7 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.52 ATP1A2 ATP1A3
8 male sex determination GO:0030238 9.51 NR0B1 SRY
9 cellular response to steroid hormone stimulus GO:0071383 9.49 ATP1A2 ATP1A3
10 cellular potassium ion homeostasis GO:0030007 9.46 ATP1A2 ATP1A3
11 sex determination GO:0007530 9.43 NR0B1 NR5A1
12 ATP hydrolysis coupled transmembrane transport GO:0090662 9.4 ATP1A2 ATP1A3
13 positive regulation of male gonad development GO:2000020 9.37 NR5A1 SRY
14 sodium ion export from cell GO:0036376 9.32 ATP1A2 ATP1A3
15 response to glycoside GO:1903416 9.26 ATP1A2 ATP1A3
16 neurotransmitter uptake GO:0001504 9.16 ATP1A2 SLC1A3
17 negative regulation of calcium ion transmembrane transport GO:1903170 8.96 ATP1A2 CBARP
18 response to pain GO:0048265 8.8 CACNA1A CALCA TAC1

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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