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	alternating hemiplegia of childhood

Disease ID	676
Disease	alternating hemiplegia of childhood
Definition	Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology,[1] though growing evidence strongly supports mutation of the ATP1A3 gene as the primary cause of this disease.[2][3] AHC is named for the transient episodes, often referred to as attacks or episodes, of hemiplegia from which those with the disorder suffer. These hemiplegic attacks can cause anything from mild weakness to complete paralysis on one or both sides of the body, and they can vary greatly in duration. Attacks may also alternate from one side of the body to the other, or alternate between affecting one or both sides during a single attack. AHC is associated with many symptoms besides hemiplegia, and the majority of these become apparent in early infancy. AHC typically presents before the age of 18 months. Normally, hemiplegia and other associated symptoms cease completely with sleep, but they may recur upon waking.[4] The disorder was only recently discovered, having first been characterized in 1971.[1][5] AHC is also extremely rare – approximately 1 in 1,000,000 people have this disorder. Besides hemiplegia, symptoms of the disorder include an extremely broad range of neurological and developmental impairments which are not well understood. Much of the literature about AHC is purposefully vague in this respect due to a lack of information on the disorder.[4] - Wikipedia Reference: https://en.wikipedia.org/wiki/alternating hemiplegia of childhood
Synonym	alternating childhood hemiplegia alternating hemiplegia childhood alternating hemiplegia of childhood (disorder) alternating hemiplegia syndrome
Orphanet	ORPHANET:2131
DOID	DOID:0050635
UMLS	C0338488
SNOMED-CT	SNOMEDCT_US_2016_09_01:230466004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0149931 \| migraine \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 773 \| CACNA1A \| ORPHANET 478 \| ATP1A3 \| CTD_human;ORPHANET;GHR 6507 \| SLC1A3 \| ORPHANET 477 \| ATP1A2 \| CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:54) 10006 \| ABI1 \| 2.369 \| DISEASES 111 \| ADCY5 \| 1.901 \| DISEASES 153 \| ADRB1 \| 1.245 \| DISEASES 477 \| ATP1A2 \| 5.038 \| DISEASES 480 \| ATP1A4 \| 1.911 \| DISEASES 773 \| CACNA1A \| 3.171 \| DISEASES 6354 \| CCL7 \| 1.102 \| DISEASES 64072 \| CDH23 \| 1.837 \| DISEASES 25792 \| CIZ1 \| 2.411 \| DISEASES 1269 \| CNR2 \| 3.236 \| DISEASES 1369 \| CPN1 \| 1.54 \| DISEASES 79947 \| DHDDS \| 1.171 \| DISEASES 1756 \| DMD \| 1.723 \| DISEASES 1761 \| DMRT1 \| 2.325 \| DISEASES 56940 \| DUSP22 \| 2.494 \| DISEASES 1847 \| DUSP5 \| 1.347 \| DISEASES 1995 \| ELAVL3 \| 1.342 \| DISEASES 54898 \| ELOVL2 \| 2.437 \| DISEASES 2323 \| FLT3LG \| 1.551 \| DISEASES 85476 \| GFM1 \| 1.994 \| DISEASES 10052 \| GJC1 \| 1.954 \| DISEASES 2710 \| GK \| 3.697 \| DISEASES 2774 \| GNAL \| 2.281 \| DISEASES 3329 \| HSPD1 \| 1.589 \| DISEASES 3347 \| HTN3 \| 1.598 \| DISEASES 3785 \| KCNQ2 \| 1.212 \| DISEASES 3897 \| L1CAM \| 1.707 \| DISEASES 3953 \| LEPR \| 1.335 \| DISEASES 4112 \| MAGEB1 \| 2.985 \| DISEASES 4113 \| MAGEB2 \| 2.697 \| DISEASES 4692 \| NDN \| 1.613 \| DISEASES 7080 \| NKX2-1 \| 2.084 \| DISEASES 190 \| NR0B1 \| 5.777 \| DISEASES 9971 \| NR1H4 \| 1.274 \| DISEASES 2516 \| NR5A1 \| 3.874 \| DISEASES 2494 \| NR5A2 \| 1.806 \| DISEASES 4905 \| NSF \| 1.582 \| DISEASES 10611 \| PDLIM5 \| 1.764 \| DISEASES 23646 \| PLD3 \| 2.347 \| DISEASES 10687 \| PNMA2 \| 1.265 \| DISEASES 5422 \| POLA1 \| 2.356 \| DISEASES 112476 \| PRRT2 \| 1.371 \| DISEASES 5962 \| RDX \| 1.316 \| DISEASES 6335 \| SCN9A \| 2.514 \| DISEASES 8910 \| SGCE \| 1.495 \| DISEASES 6513 \| SLC2A1 \| 3.297 \| DISEASES 6520 \| SLC3A2 \| 1.704 \| DISEASES 9597 \| SMAD5-AS1 \| 3.404 \| DISEASES 55553 \| SOX6 \| 1.994 \| DISEASES 6736 \| SRY \| 3.292 \| DISEASES 6752 \| SSTR2 \| 1.099 \| DISEASES 6863 \| TAC1 \| 1.463 \| DISEASES 7520 \| XRCC5 \| 1.211 \| DISEASES 2547 \| XRCC6 \| 1.032 \| DISEASES
Locus	Symbol \| Locus(Total Locus:4) SLC1A3 \| 5p13.2 CACNA1A \| 19p13.13 ATP1A2 \| 1q23.2 ATP1A3 \| 19q13.2

Disease ID	676
Disease	alternating hemiplegia of childhood
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0002076 \| Migraine headaches \| 1

Disease ID	676
Disease	alternating hemiplegia of childhood
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0474454 \| apneic attack
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
ATP1A3	chr19:g.42474363_42474367delins, heterozygous;NM_001256213.1, NP_001243142.1;c.(2545_2549delinsTC), p.(Arg849_Ile850delinsSer)	doi:10.1038/gim.2016.1	A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs387907281	24631656	478	ATP1A3	umls:C0338488	BeFree	The aim of this study was to determine the functional consequences of six ATP1A3 mutations (S137Y, D220N, I274N, D801N, E815K, and G947R) associated with AHC.	0.245700279	2014	ATP1A3	19	41970284	C	T
rs398122887	24631656	478	ATP1A3	umls:C0338488	BeFree	The aim of this study was to determine the functional consequences of six ATP1A3 mutations (S137Y, D220N, I274N, D801N, E815K, and G947R) associated with AHC.	0.245700279	2014	ATP1A3	19	41967744	C	T,G
rs80356537	24631656	478	ATP1A3	umls:C0338488	BeFree	The aim of this study was to determine the functional consequences of six ATP1A3 mutations (S137Y, D220N, I274N, D801N, E815K, and G947R) associated with AHC.	0.245700279	2014	ATP1A3	19	41970405	C	T,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	676
Disease	alternating hemiplegia of childhood
Case	(Waiting for update.)

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