Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   familial hemiplegic migraine
  

Disease ID 1175
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)
773  |  CACNA1A  |  GHR
112476  |  PRRT2  |  GHR
6323  |  SCN1A  |  GHR
477  |  ATP1A2  |  GHR
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
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
Disease familial hemiplegic migraine
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C2364072  |  depression
C1963101  |  encephalopathy
C0796095  |  c syndrome
C0085616  |  vasospasm
C0036572  |  seizures
C0033975  |  psychosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0085584  |  encephalopathy  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:16)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs12190821122836594773CACNA1Aumls:C0338484BeFreeEffects of LPS on P2X3 receptors of trigeminal sensory neurons and macrophages from mice expressing the R192Q Cacna1a gene mutation of familial hemiplegic migraine-1.0.0192723732013CACNA1A1913371744CT
rs12190821125877011773CACNA1Aumls:C0338484BeFreeTransgenic 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.0.0192723732015CACNA1A1913371744CT
rs12190821225274239773CACNA1Aumls:C0338484BeFreeWe 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.0.0192723732015CACNA1A1913303877GA
rs1219082129915947773CACNA1Aumls:C0338484BeFreeRecurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.0.0192723731999CACNA1A1913303877GA
rs12190821212756131773CACNA1Aumls:C0338484BeFreeExpanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.0.0192723732003CACNA1A1913303877GA
rs12190821218400034773CACNA1Aumls:C0338484BeFreeOf 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.0.0192723732008CACNA1A1913303877GA
rs12190821415557518773CACNA1Aumls:C0338484BeFreeTwelve 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.0.0192723732004CACNA1A1913230185TG
rs12190821415557518477ATP1A2umls:C0338484BeFreeTwelve 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.0.0108576752004CACNA1A1913230185TG
rs12190821718400034773CACNA1Aumls:C0338484BeFreeOf 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.0.0192723732008CACNA1A1913308452CT
rs12190822518400034773CACNA1Aumls:C0338484BeFreeOf 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.0.0192723732008CACNA1A1913365448GA
rs12190822519520699773CACNA1Aumls:C0338484BeFreeThe CACNA1A S218L mutation is associated with familial hemiplegic migraine, ataxia and/or ESCEATHT.0.0192723732009CACNA1A1913365448GA
rs12190822518313928773CACNA1Aumls:C0338484BeFreeThe S218L CACNA1A mutation has been previously described in two families with familial hemiplegic migraine.0.0192723732008CACNA1A1913365448GA
rs12190822515743764773CACNA1Aumls:C0338484BeFreeSpecific 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.0.0192723732005CACNA1A1913365448GA
rs121918799233986116323SCN1Aumls:C0338484BeFreeTo 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.0.0057002792013SCN1A;LOC1027240582166015636GC
rs2893340015557518477ATP1A2umls:C0338484BeFreeTwelve 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.0.0108576752004ATP1A21160135510TC
rs2893340015557518773CACNA1Aumls:C0338484BeFreeTwelve 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.0.0192723732004ATP1A21160135510TC
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 1175
Disease familial hemiplegic migraine
Case(Waiting for update.)