MCID: ALT001
MIFTS: 53

Alternating Hemiplegia of Childhood malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Alternating Hemiplegia of Childhood

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 46NINDS, 67UniProtKB/Swiss-Prot, 24GTR, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alternating Hemiplegia of Childhood:

Name: Alternating Hemiplegia of Childhood 49 10 11 45 22 23 12 51 65
Alternating Hemiplegia of Childhood 1 67 24 65
Ahc 10 45 51
Alternating Hemiplegia in Childhood 51 24
Alternating Hemiplegia Syndrome 45 23
 
Alternating Hemiplegia 45 46
Congenital Hypoplasia of Adrenal Gland 65
Hemiplegia, Crossed 65
Ahc1 67

Characteristics:

Orphanet epidemiological data:

51
alternating hemiplegia of childhood:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
alternating hemiplegia of childhood:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 104290
Disease Ontology10 DOID:0050635
ICD1027 G98
Orphanet51 2131
ICD10 via Orphanet28 G98
MESH via Orphanet37 C536589
UMLS via Orphanet66 C0338488
MeSH36 D006429
UMLS65 C0220766, C0278110, C0338488 C3549447, more

Summaries for Alternating Hemiplegia of Childhood

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NIH Rare Diseases:45 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 alternating hemiplegia of childhood 2 and atp1a2-related alternating hemiplegia of childhood, and has symptoms including generalized tonic-clonic seizures, episodic quadriplegia and episodic hemiplegia. An important gene associated with Alternating Hemiplegia of Childhood is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways are Proximal tubule bicarbonate reclamation and Bile secretion. Affiliated tissues include adrenal gland, eye and testes, and related mouse phenotypes are reproductive system and behavior/neurological.

Disease Ontology:10 A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.

Genetics Home Reference:23 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:49 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most... (104290) more...

NINDS:46 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:67 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:68 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology, though... more...

Related Diseases for Alternating Hemiplegia of Childhood

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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 top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1alternating hemiplegia of childhood 212.9
2atp1a2-related alternating hemiplegia of childhood12.8
3atp1a3-related alternating hemiplegia of childhood12.8
4benign familial nocturnal alternating hemiplegia of childhood12.7
5adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism11.7
6x-linked adrenal hypoplasia congenita11.7
7familial hemiplegic migraine10.5
8chromosome xp21 deletion syndrome10.5
9prostatitis10.4
10bladder urachal squamous cell carcinoma10.4MMP9, SLC2A1
11burns10.4CALCA, TAC1
12prostate cancer10.3
13pancreatitis10.3
14wallerian degeneration10.3
15colitis10.3ATP1A2, ATP1A3, CALCA
16immune system organ benign neoplasm10.3SLC2A1, TAC1
17anorectal atresia10.3NR5A1, SRY
18mixed gonadal dysgenesis10.3NR0B1, SRY
19hepatitis10.3
20sarcoma10.3
21retinitis10.3
22retinal hemangioblastoma10.2SLC2A1, TAC1
23dermis tumor10.2SLC2A1, TAC1
24hemoglobin zurich10.2ATP1A2, ATP1A3, CALCA, SLC2A1
25pheochromocytoma10.2
26behcet's disease10.2
27retinitis pigmentosa10.2
28actg2-related disorders10.2NR0B1, NR5A1, SRY
29albinism, oculocutaneous, type v10.2ATP1A2, CALCA, TAC1
30x-linked congenital stationary night blindness10.2GK, NR0B1, NR5A1
31nodular neuronal heterotopia10.2SOX9, SRY
32localized pulmonary fibrosis10.2CALCA, TAC1
33hemifacial spasm10.2ATP1A2, CALCA, SLC2A1, TAC1
34mental retardation, x-linked, syndromic, hedera type10.1CNR2, GK, NR0B1
35deafness, x-linked 310.1CNR2, GK, NR0B1
36schizophrenia10.1
37rheumatoid arthritis10.1
38myocardial infarction10.1
39systemic lupus erythematosus10.1
40lung cancer10.1
41asthma10.1
42coronary artery disease10.1
43hepatitis c virus10.1
44keratitis10.1
45smith-lemli-opitz syndrome10.1
46multiple myeloma10.1
47retinoblastoma10.1
48pick disease10.1
49prader-willi syndrome10.1
50nasopharyngeal carcinoma10.1

Graphical network of the top 20 diseases related to Alternating Hemiplegia of Childhood:



Diseases related to alternating hemiplegia of childhood

Symptoms for Alternating Hemiplegia of Childhood

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Symptoms by clinical synopsis from OMIM:

104290

Clinical features from OMIM:

104290

HPO human phenotypes related to Alternating Hemiplegia of Childhood:

(show all 8)
id Description Frequency HPO Source Accession
1 generalized tonic-clonic seizures typical (50%) HP:0002069
2 episodic quadriplegia HP:0200072
3 episodic hemiplegia HP:0012194
4 dystonia HP:0001332
5 mental deterioration HP:0001268
6 choreoathetosis HP:0001266
7 intellectual disability HP:0001249
8 nystagmus HP:0000639

Drugs & Therapeutics for Alternating Hemiplegia of Childhood

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlycerolexperimentalPhase 219156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2
R4733Phase 1, Phase 238502-85-25360545
Synonyms:
4-Hydroxybuttersaeure natriumsalz
4-Hydroxybutyrate sodium
4-Hydroxybutyric acid monosodium salt
4-Hydroxybutyric acid sodium salt
502-85-2
ARONIS24196
Anetamin
BUTYRIC ACID, 4-HYDROXY-, SODIUM SALT
Butanoic acid, 4-hydroxy-, monosodium salt
Butanoic acid, 4-hydroxy-, sodium salt
Butanoic acid, 4-hydroxy-, sodium salt (1:1)
Butyric acid, 4-hydroxy-, monosodium salt
Butyric acid, 4-hydroxy-, monosodium salt (8CI)
C4H7O3.Na
CHEMBL1200682
CID10412
D05866
EB 27
EINECS 207-953-3
GHB
Gamma OH
H-4040
H3635_SIGMA
HMS2091E15
Hydroxybutyric acid monosodium salt
 
LS-48077
MolPort-001-766-711
MolPort-006-717-541
NSC 84223
Natrium 4-hydroxybutyrat
OR28769
Oxybate sodium
Sodium 4-hydroxybutyrate
Sodium Oxybate [USAN]
Sodium Oxybutyrate
Sodium gamma-hydroxybutyrate
Sodium gammahydroxybutyrate
Sodium oxybate
Sodium oxybate (USAN)
Sodium-4-hydroxybutyrate
Somsanit
UNII-7G33012534
WY 3478
WY-3478
Xyrem
Xyrem (TN)
gamma-Hydroxy sodium butyrate
gamma-Hydroxybutyrate sodium
gamma-Hydroxybutyrate sodium salt
gamma-Hydroxybutyric acid sodium salt
gamma-Hydroxybutyric acid, sodium salt
3Central Nervous System DepressantsPhase 1, Phase 210016
4Anesthetics, IntravenousPhase 1, Phase 21943
5Anesthetics, GeneralPhase 1, Phase 22274
6AnestheticsPhase 1, Phase 27385

Interventional clinical trials:

idNameStatusNCT IDPhase
1Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO)CompletedNCT00931164Phase 1, Phase 2
2Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of ChildhoodRecruitingNCT02408354Phase 2

Search NIH Clinical Center for Alternating Hemiplegia of Childhood

Genetic Tests for Alternating Hemiplegia of Childhood

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Genetic tests related to Alternating Hemiplegia of Childhood:

id Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood22 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

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MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

33
Adrenal gland, Eye, Testes, Breast, Heart, Myeloid, T cells

Animal Models for Alternating Hemiplegia of Childhood or affiliated genes

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MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6AMH, CNR2, GNRHR, MMP9, NR0B1, NR5A1
2MP:00053867.5ATP1A2, ATP1A3, MMP9, NR5A1, PROP1, SLC1A3
3MP:00053767.1AMH, ATP1A2, ATP1A3, GNRHR, MMP9, NR0B1

Publications for Alternating Hemiplegia of Childhood

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Articles related to Alternating Hemiplegia of Childhood:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Hepatitis C in the Russian Federation: challenges and future directions. (27217802)
2016
2
Endobronchial chondroma: An unusual case of bronchial obstruction. (25770939)
2015
3
An elderly man with rapidly progressive depression and activities of daily living decline: Case report of late-onset hypogonadism syndrome. (26391538)
2015
4
Effect of gender and CYP2C9 and CYP2C8 polymorphisms on the pharmacokinetics of ibuprofen enantiomers. (26122864)
2015
5
Low density lipoprotein receptor-related protein 1 is upregulated in epicardial fat from type 2 diabetes mellitus patients and correlates with glucose and triglyceride plasma levels. (23096408)
2014
6
Correlation between interleukin-1 and the obesity of polycystic ovary syndrome]. (22455686)
2012
7
Connexin 43 interacts with Bax to regulate apoptosis of pancreatic cancer through a gap junction-independent pathway. (22736223)
2012
8
Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population. (22563200)
2012
9
Pathogenesis of endemic pemphigus foliaceus. (21605806)
2011
10
Juvenile systemic lupus erythematosus in a adolescent with acquired immunodeficiency syndrome. (21125180)
2010
11
In vitro interferon-gamma induction in whole blood samples is a test for tuberculous infection in children and adolescents]. (19642569)
2009
12
Discovery of novel inhibitors of human 11beta-hydroxysteroid dehydrogenase type 1. (18775471)
2009
13
TNF-alpha promoter methylation as a predictive biomarker for weight-loss response. (19584886)
2009
14
Psychological stress-reducing effect of chocolate enriched with gamma-aminobutyric acid (GABA) in humans: assessment of stress using heart rate variability and salivary chromogranin A. (19462324)
2009
15
The phylogenetic significance of peptidoglycan types: Molecular analysis of the genera Microbacterium and Aureobacterium based upon sequence comparison of gyrB, rpoB, recA and ppk and 16SrRNA genes. (16684595)
2007
16
Expression of high levels of human proteinase inhibitor 9 blocks both perforin/granzyme and Fas/Fas ligand-mediated cytotoxicity. (17490628)
2007
17
Bystander response in human lymphoblastoid TK6 cells. (17669438)
2007
18
Discovery of an oncogenic activity in p27Kip1 that causes stem cell expansion and a multiple tumor phenotype. (17626791)
2007
19
Family-based and case-control association studies of glutamate receptor GRIK3 Ser310Ala polymorphism in Polish patients and families with alcohol dependence. (16356644)
2006
20
Walker-Warburg Syndrome. (17070491)
2006
21
Blood volume and brain natriuretic peptide in congestive heart failure: a pilot study. (16290978)
2005
22
Uric acid as a mediator of endothelial dysfunction, inflammation, and vascular disease. (15660333)
2005
23
Hematopoietic prostaglandin D2 synthase in the chicken Harderian gland. (16046238)
2005
24
Immunological and pathobiological roles of fibulin-1 in breast cancer. (14691454)
2004
25
Synthesis and biological evaluation of 1,8-naphthyridin-4(1H)-on-3-carboxamide derivatives as new ligands of cannabinoid receptors. (15051060)
2004
26
Characterization of the segmental duplication LCR7-20 in the human genome. (14706455)
2004
27
Advances in estrogen receptor biology: prospects for improvements in targeted breast cancer therapy. (14680484)
2004
28
Serum leptin monitoring in anorectic patients during refeeding therapy. (12951634)
2003
29
Differential activation of the IGF binding protein-3 promoter by butyrate in prostate cancer cells. (11956160)
2002
30
Identity of the RNase MRP- and RNase P-associated Th/To autoantigen. (12483731)
2002
31
Activation peptide of carboxypeptidase B and anionic trypsinogen as early predictors of the severity of acute pancreatitis. (11167870)
2001
32
Hepatocyte growth factor induces pro-apoptotic genes in HepG2 hepatoma but not in B16-F1 melanoma cells. (11169978)
2001
33
Presence of a genistein-responsive inhibitory mechanism on interleukin-1alpha-induced NF-kappaB activation. (11737207)
2001
34
Defining roles for HOX and MEIS1 genes in induction of acute myeloid leukemia. (11113197)
2001
35
The p75 neurotrophin receptor, relative to other Schwann cell and melanoma markers, is abundantly Expressed in spindled melanomas. (11481518)
2001
36
Marsupial egg and embryo coats. (10729728)
2000
37
Halothane binding to a G protein coupled receptor in retinal membranes by photoaffinity labeling. (10913255)
2000
38
A synergistic interaction between histamine and vasoactive intestinal peptide (VIP) on cyclic AMP production in the chick pineal gland. (9789791)
1998
39
Heritable nephroblastoma (Wilms' tumor) in the Upjohn Sprague Dawley rat. (8799940)
1996
40
Effects of dobutamine on myocardial blood flow, contractile function, and bioenergetic responses distal to coronary stenosis: implications with regard to dobutamine stress testing. (7832107)
1995
41
Enhancing safety and outcomes with the newer antithrombotic and antiplatelet agents. (7668216)
1995
42
Malignant pulmonary interstitial emphysema. (8339675)
1993
43
Assignment of the lens intrinsic membrane protein MP19 structural gene to human chromosome 19. (1606837)
1992
44
Heme oxygenase is a positive acute-phase reactant in human Hep3B hepatoma cells. (1371418)
1992
45
Cassette EEG sleep recordings in Gilles de la Tourette syndrome. (1628407)
1992
46
Characterization by affinity cross-linking of a receptor for atrial natriuretic peptide in cultured human thyroid cells associated with reductions in both adenosine 3',5'-monophosphate production and thyroglobulin secretion. (2153696)
1990
47
Inhibition of antibody-dependent, cell-mediated cytotoxicity by serum from lepromatous leprosy patients. (4020209)
1985
48
Endoscopic papillotomy in the treatment of biliary tract disease: 258 procedures and results. (7307851)
1981
49
Deep keratitis associated with atypical lichen planus; report of a case. (18106939)
1948
50
A Practical Essay on Hemeralopia, or Night-Blindness, commonly called Nyctalopia; as it affects seaman and others, in the East and West Indies, China, the Mediterranean, and all Tropical Climates, in which a successful method of treating the disease is detailed. (20895225)
1814

Variations for Alternating Hemiplegia of Childhood

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

67
id Symbol AA change Variation ID SNP ID
1ATP1A2p.Thr378AsnVAR_019934rs28934002

Clinvar genetic disease variations for Alternating Hemiplegia of Childhood:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP1A2NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn)single nucleotide variantPathogenicrs28934002GRCh37Chr 1, 160098557: 160098557

Expression for genes affiliated with Alternating Hemiplegia of Childhood

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

Pathways for genes affiliated with Alternating Hemiplegia of Childhood

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GO Terms for genes affiliated with Alternating Hemiplegia of Childhood

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1response to glycosideGO:190341610.6ATP1A2, ATP1A3
2neurotransmitter uptakeGO:000150410.6ATP1A2, SLC1A3
3sex determinationGO:000753010.3NR0B1, SRY
4cellular potassium ion homeostasisGO:003000710.3ATP1A2, ATP1A3
5intracellular receptor signaling pathwayGO:003052210.2NR0B1, NR5A1
6ATP hydrolysis coupled proton transportGO:001599110.1ATP1A2, ATP1A3
7gonad developmentGO:000840610.1AMH, NR0B1
8visual learningGO:000854210.1ATP1A2, ATP1A3
9response to painGO:00482659.9CALCA, TAC1
10positive regulation of ossificationGO:00457789.9CALCA, TAC1
11response to yeastGO:00018789.9CALCA, TAC1
12antifungal humoral responseGO:00197329.9CALCA, TAC1
13male sex determinationGO:00302389.8NR0B1, SOX9, SRY
14cellular response to nerve growth factor stimulusGO:19900909.6CALCA, TAC1
15defense response to Gram-negative bacteriumGO:00508299.5CALCA, TAC1
16negative regulation of ossificationGO:00302799.5CALCA, SOX9
17cell differentiationGO:00301549.4NR0B1, NR5A1, SOX9, SRY

Sources for Alternating Hemiplegia of Childhood

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet