familial hemiplegic migraine |
Disease ID | 1175 |
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Disease | familial hemiplegic migraine |
Definition | A migraine disorder characterized by individual and family history of aura that includes motor weakness. |
Synonym | familial hemiplegic migraine (disorder) familial hemiplegic migraines hemiplegic migraine, familial hemiplegic-ophthalmoplegic migraine möbius' syndrome i |
DOID | |
UMLS | C0338484 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0149931 | migraine | 5 C0007758 | cerebellar ataxia | 2 C0020538 | hypertension | 1 C0338480 | migraine without aura | 1 C1619734 | pulmonary arterial hypertension | 1 C0027765 | neurological disease | 1 C0149931 | migraine headaches | 1 C0042075 | urological diseases | 1 C0149931 | migraine headache | 1 C0004134 | ataxia | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:44) 170302 | ARX | 1.506 | DISEASES 23400 | ATP13A2 | 1.262 | DISEASES 477 | ATP1A2 | 8.047 | DISEASES 480 | ATP1A4 | 1.643 | DISEASES 773 | CACNA1A | 7.934 | DISEASES 777 | CACNA1E | 3.845 | DISEASES 778 | CACNA1F | 1.309 | DISEASES 8913 | CACNA1G | 1.399 | DISEASES 785 | CACNB4 | 3.05 | DISEASES 8573 | CASK | 1.835 | DISEASES 844 | CASQ1 | 1.925 | DISEASES 916 | CD3E | 1.705 | DISEASES 6792 | CDKL5 | 1.16 | DISEASES 1282 | COL4A1 | 1.194 | DISEASES 1284 | COL4A2 | 1.619 | DISEASES 1798 | DPAGT1 | 1.124 | DISEASES 1813 | DRD2 | 2.138 | DISEASES 10020 | GNE | 1.193 | DISEASES 2900 | GRIK4 | 1.749 | DISEASES 3736 | KCNA1 | 1.284 | DISEASES 9312 | KCNB2 | 2.668 | DISEASES 3758 | KCNJ1 | 1.097 | DISEASES 3766 | KCNJ10 | 1.114 | DISEASES 3762 | KCNJ5 | 1.065 | DISEASES 3765 | KCNJ9 | 2.718 | DISEASES 56660 | KCNK12 | 2.904 | DISEASES 338567 | KCNK18 | 4.382 | DISEASES 3786 | KCNQ3 | 1.279 | DISEASES 4524 | MTHFR | 1.888 | DISEASES 4784 | NFIX | 2.228 | DISEASES 378884 | NHLRC1 | 1.24 | DISEASES 4855 | NOTCH4 | 3.053 | DISEASES 64324 | NSD1 | 1.165 | DISEASES 8021 | NUP214 | 1.358 | DISEASES 5828 | PEX2 | 2.103 | DISEASES 112476 | PRRT2 | 3.752 | DISEASES 6331 | SCN5A | 1.74 | DISEASES 6335 | SCN9A | 2.627 | DISEASES 57419 | SLC24A3 | 2.598 | DISEASES 123041 | SLC24A4 | 2.297 | DISEASES 8671 | SLC4A4 | 1.115 | DISEASES 6863 | TAC1 | 1.075 | DISEASES 11277 | TREX1 | 1.202 | DISEASES 7442 | TRPV1 | 1.923 | DISEASES |
Locus | (Waiting for update.) |
Disease ID | 1175 |
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Disease | familial hemiplegic migraine |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0002076 | Migraine headaches | 7 HP:0001251 | Ataxia | 2 HP:0001259 | Coma | 2 HP:0002083 | Migraine without aura | 1 HP:0002059 | Degeneration of cerebrum | 1 HP:0006846 | Acute encephalopathy | 1 HP:0001269 | Hemiparesis | 1 HP:0001298 | Encephalopathy | 1 HP:0001945 | Fever | 1 HP:0002181 | Cerebral edema | 1 HP:0000969 | Dropsy | 1 HP:0000822 | Hypertension | 1 |
Disease ID | 1175 |
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Disease | familial hemiplegic migraine |
Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:16) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121908211 | 22836594 | 773 | CACNA1A | umls:C0338484 | BeFree | Effects of LPS on P2X3 receptors of trigeminal sensory neurons and macrophages from mice expressing the R192Q Cacna1a gene mutation of familial hemiplegic migraine-1. | 0.019272373 | 2013 | CACNA1A | 19 | 13371744 | C | T |
rs121908211 | 25877011 | 773 | CACNA1A | umls:C0338484 | BeFree | Transgenic mice carrying the R192Q missense mutation in the Cacna1a gene, which in patients causes familial hemiplegic migraine type 1 (FHM1), exhibit increased propensity to CSD. | 0.019272373 | 2015 | CACNA1A | 19 | 13371744 | C | T |
rs121908212 | 25274239 | 773 | CACNA1A | umls:C0338484 | BeFree | We herein describe a case of a 38-year-old man with familial hemiplegic migraine with a T666M mutation in the electrical potential-dependent calcium ion channel (CACNA1A) gene. | 0.019272373 | 2015 | CACNA1A | 19 | 13303877 | G | A |
rs121908212 | 9915947 | 773 | CACNA1A | umls:C0338484 | BeFree | Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. | 0.019272373 | 1999 | CACNA1A | 19 | 13303877 | G | A |
rs121908212 | 12756131 | 773 | CACNA1A | umls:C0338484 | BeFree | Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. | 0.019272373 | 2003 | CACNA1A | 19 | 13303877 | G | A |
rs121908212 | 18400034 | 773 | CACNA1A | umls:C0338484 | BeFree | Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families. | 0.019272373 | 2008 | CACNA1A | 19 | 13303877 | G | A |
rs121908214 | 15557518 | 773 | CACNA1A | umls:C0338484 | BeFree | Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG. | 0.019272373 | 2004 | CACNA1A | 19 | 13230185 | T | G |
rs121908214 | 15557518 | 477 | ATP1A2 | umls:C0338484 | BeFree | Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG. | 0.010857675 | 2004 | CACNA1A | 19 | 13230185 | T | G |
rs121908217 | 18400034 | 773 | CACNA1A | umls:C0338484 | BeFree | Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families. | 0.019272373 | 2008 | CACNA1A | 19 | 13308452 | C | T |
rs121908225 | 18400034 | 773 | CACNA1A | umls:C0338484 | BeFree | Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families. | 0.019272373 | 2008 | CACNA1A | 19 | 13365448 | G | A |
rs121908225 | 19520699 | 773 | CACNA1A | umls:C0338484 | BeFree | The CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT. | 0.019272373 | 2009 | CACNA1A | 19 | 13365448 | G | A |
rs121908225 | 18313928 | 773 | CACNA1A | umls:C0338484 | BeFree | The S218L CACNA1A mutation has been previously described in two families with familial hemiplegic migraine. | 0.019272373 | 2008 | CACNA1A | 19 | 13365448 | G | A |
rs121908225 | 15743764 | 773 | CACNA1A | umls:C0338484 | BeFree | Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma. | 0.019272373 | 2005 | CACNA1A | 19 | 13365448 | G | A |
rs121918799 | 23398611 | 6323 | SCN1A | umls:C0338484 | BeFree | To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism. | 0.005700279 | 2013 | SCN1A;LOC102724058 | 2 | 166015636 | G | C |
rs28933400 | 15557518 | 477 | ATP1A2 | umls:C0338484 | BeFree | Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG. | 0.010857675 | 2004 | ATP1A2 | 1 | 160135510 | T | C |
rs28933400 | 15557518 | 773 | CACNA1A | umls:C0338484 | BeFree | Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG. | 0.019272373 | 2004 | ATP1A2 | 1 | 160135510 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 1175 |
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Disease | familial hemiplegic migraine |
Case | (Waiting for update.) |