PedAM

Pediatric Disease Annotations & Medicines


	hemiplegic migraine

Disease ID	1945
Disease	hemiplegic migraine
Synonym	hemiplegic migraine (disorder) hemiplegic migraines
UMLS	C0270862
SNOMED-CT	SNOMEDCT_US_2016_09_01:59292006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0149931 \| migraine \| 8 C0007758 \| cerebellar ataxia \| 3 C0004134 \| ataxia \| 2 C0040997 \| trigeminal neuralgia \| 2 C0149931 \| migraines \| 1 C0409974 \| lupus erythematosus \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0003857 \| arteriovenous malformation \| 1 C0025362 \| mental retardation \| 1 C0206138 \| crest syndrome \| 1 C0149931 \| migraine headaches \| 1 C0018991 \| hemiplegia \| 1 C1720189 \| episodic ataxia \| 1 C0338488 \| alternating hemiplegia of childhood \| 1 C0149931 \| migraine headache \| 1 C0006663 \| calcinosis \| 1 C0154723 \| migraine with aura \| 1 C0014544 \| epilepsy \| 1 C0338480 \| migraine without aura \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1945
Disease	hemiplegic migraine
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0002076 \| Migraine headaches \| 9 HP:0001251 \| Ataxia \| 4 HP:0001259 \| Coma \| 2 HP:0000969 \| Dropsy \| 2 HP:0100661 \| Trigeminal neuralgia \| 2 HP:0002181 \| Cerebral edema \| 2 HP:0001269 \| Hemiparesis \| 1 HP:0006846 \| Acute encephalopathy \| 1 HP:0002077 \| Migraine with aura \| 1 HP:0002083 \| Migraine without aura \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001945 \| Fever \| 1 HP:0002131 \| Intermittent cerebellar ataxia \| 1 HP:0003761 \| Calcinosis \| 1 HP:0002301 \| Hemiplegia \| 1 HP:0002073 \| Cerebellar ataxia, progressive \| 1 HP:0002059 \| Degeneration of cerebrum \| 1 HP:0003470 \| Inability to move \| 1 HP:0012721 \| Venous malformations \| 1 HP:0001249 \| Mental retardation \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0001317 \| Abnormality of the cerebellum \| 1 HP:0006548 \| Pulmonary av malformation \| 1 HP:0011157 \| Auras \| 1 HP:0001250 \| Seizures \| 1

Disease ID	1945
Disease	hemiplegic migraine
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0035304 \| retinal degeneration C0013604 \| oedema
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908212	15210532	773	CACNA1A	umls:C0270862	BeFree	A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia.	0.009153079	2004	CACNA1A	19	13303877	G	A
rs121908212	11814735	773	CACNA1A	umls:C0270862	BeFree	Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable clinical features and that paroxysmal hemiplegic migraine attacks and progressive cerebellar atrophy should have distinct mechanisms of pathogenesis.	0.009153079	2002	CACNA1A	19	13303877	G	A
rs121908225	20071244	773	CACNA1A	umls:C0270862	BeFree	Here we report a sporadic case of FHM1 linked to S218L CACNA1A gene mutation with the triad of prolonged hemiplegic migraine, cerebellar symptoms, and epileptic seizures.	0.009153079	2010	CACNA1A	19	13365448	G	A
rs121908230	18400034	773	CACNA1A	umls:C0270862	BeFree	CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.	0.009153079	2008	CACNA1A	19	13262789	C	T
rs121918799	23398611	6323	SCN1A	umls:C0270862	BeFree	Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.	0.001357209	2013	SCN1A;LOC102724058	2	166015636	G	C

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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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