MCID: FML023
MIFTS: 55

Familial Hemiplegic Migraine malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Familial Hemiplegic Migraine

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Aliases & Descriptions for Familial Hemiplegic Migraine:

Name: Familial Hemiplegic Migraine 11 23 48 24 25 13 68
Hemiplegic Migraine, Familial 48 25 27
Hemiplegic-Ophthalmoplegic Migraine 48 25
Hemiplegic Migraine, Familial Type 1 68
 
Migraine, Familial Hemiplegic 12
Hemiplegic Migraine Familial 50
Fhm 48

Characteristics:

GeneReviews:

23
Penetrance: penetrance for fhm1, 2, and 3 appears to be high and is estimated to be approximately 80% [jurkat-rott et al 2004, riant et al 2005]...


Classifications:



External Ids:

Disease Ontology11 DOID:0060178
ICD1030 G43.8
ICD9CM32 346.8
UMLS68 C0477373

Summaries for Familial Hemiplegic Migraine

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NIH Rare Diseases:48 Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. Treatment varies depending on signs and symptoms and may include use of anti migraine or anti seizure medications. Last updated: 11/28/2016

MalaCards based summary: Familial Hemiplegic Migraine, also known as hemiplegic migraine, familial, is related to alternating hemiplegia of childhood and migraine, familial hemiplegic, 2, and has symptoms including headache, headache and hyperexplexia. An important gene associated with Familial Hemiplegic Migraine is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways are Interaction between L1 and Ankyrins and Bile secretion. Affiliated tissues include bone, brain and trigeminal ganglion, and related mouse phenotypes are Increased viability with SS1P at EC90 and muscle.

Disease Ontology:11 A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.

Genetics Home Reference:25 Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.

Wikipedia:71 Familial hemiplegic migraine (FHM) is an autosomal dominant classical migraine subtype that typically... more...

GeneReviews for NBK1388

Related Diseases for Familial Hemiplegic Migraine

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Diseases in the Hemiplegic Migraine family:

Migraine, Familial Hemiplegic, 2 Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 1 familial hemiplegic migraine
Sporadic Hemiplegic Migraine Familial or Sporadic Hemiplegic Migraine

Diseases related to Familial Hemiplegic Migraine via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1alternating hemiplegia of childhood31.8ATP1A2, ATP1A3, CACNA1A, CALCA, XK
2migraine, familial hemiplegic, 211.9
3migraine, familial hemiplegic, 311.9
4migraine, familial hemiplegic, 111.9
5episodic ataxia11.4
6sporadic hemiplegic migraine11.2
7migraine with or without aura 111.1
8alternating hemiplegia of childhood 211.1
9hemiplegia alterans11.1
10hemiplegic migraine11.0
11neuronitis10.4
12ataxia10.3
13chromosome 8-derived supernumerary ring /marker10.3ATP1A2, CACNA1A, SCN1A
14surfactant dysfunction10.2ATP1A2, CACNA1A, SCN1A
15epilepsy10.2
16juvenile absence epilepsy10.2ATP1A2, ATP1A3, SCN1A
17thyroid crisis10.2ATP1A2, ATP1A3
18cerebellar ataxia10.2
19cerebritis10.2
20encephalopathy10.2
21oguchi disease-210.1CACNA1A, XK
22spinal cord infarction10.1GNB1, SCN1A
23hemiplegia10.0
24tricuspid valve disease10.0SCN5A, XK
25cadasil10.0
26tibial aplasia ectrodactyly hydrocephalus10.0ATP1A2, ATP1B1
27chronic intestinal vascular insufficiency9.9CACNA1A, SCN1A, XK
28migraine with aura9.8
29status epilepticus9.8
30retinitis9.8
31erdheim-chester disease9.8
32retinal degeneration9.8
33meningitis9.8
34hemicrania continua9.8
35febrile seizures9.8
36headache9.8
37acute salpingo-oophoritis9.8ATP1A2, ATP1A3, CACNA1A, CALCA, SCN1A
38angiomyolipoma9.7CACNA1A, NOTCH3, SCN1A, XK
39bird fancier's lung9.7SCN5A, XK
40pelvic inflammatory disease9.3ATP1A2, CACNA1A, KCNK18, NOTCH3, SCN1A
41hereditary neuropathies9.3ATP1A2, CACNA1A, CALCA, KCNK18, SCN1A
42albinism, oculocutaneous, type v9.0ATP1A2, CACNA1A, CALCA, KCNK18, NOTCH3, SCN1A
43ischemic colitis8.1ATP1A2, ATP1A3, CACNA1A, CALCA, GNAI2, NOTCH3
44paroxysmal cold hemoglobinuria7.2ATP1A2, ATP1A3, ATP1B1, CACNA1A, CALCA, GNAI2

Graphical network of the top 20 diseases related to Familial Hemiplegic Migraine:



Diseases related to familial hemiplegic migraine

Symptoms & Phenotypes for Familial Hemiplegic Migraine

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UMLS symptoms related to Familial Hemiplegic Migraine:


headache, hyperexplexia, cerebellar ataxia, hemiparesis, hemiplegia, hallucinations, auditory, hallucinations, visual

GenomeRNAi Phenotypes related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00376-A-110.1ATP1A3, GNAI2, GNB1

MGI Mouse Phenotypes related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7ATP1A2, ATP1A3, ATP1B1, CACNA1A, NOTCH3, SCN5A
2MP:00028738.3ATP1A2, ATP1B1, CACNA1A, GNAI2, NOTCH3, OPRM1
3MP:00053868.3ATP1A2, ATP1A3, CACNA1A, GNAI2, GNB1, NOTCH3
4MP:00053887.9ATP1A2, ATP1A3, ATP1B1, CACNA1A, GNAI2, GNB1
5MP:00107687.3ATP1A2, ATP1A3, ATP1B1, CACNA1A, GNAI2, GNB1
6MP:00036316.8ATP1A2, ATP1A3, CACNA1A, GNAI2, GNB1, KCNK18

Drugs & Therapeutics for Familial Hemiplegic Migraine

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Drugs for Familial Hemiplegic Migraine (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitroglycerinapproved, investigational15055-63-04510
Synonyms:
1,2,3-Propanetrioltrinitrate
1,2,3-Propanetriyl nitrate
100292-13-5
105469-31-6
55-63-0
80066-48-4
8013-23-8
9010-02-0
AC1L1IBV
Adesitrin
Aldonitrin
Angibid
Angiolingual
Angiplex
Anglix
Angonist
Angorin
Anogesic
Aquo-Trimitrosan
BIDD:GT0142
BRN 1802063
Blasting gelatin
Blasting oil
Buccal
Buccard
C07455
C3H5N3O9
CCRIS 4089
CHEBI:28787
CHEMBL730
CID4510
CPD-143
Cardabid
Cardamist
Cardinit
Cardiodisco
Cellegesic
Chitamite
Colenitral
Cordipatch
Corditrine
Coro-Nitro
D00515
D005996
DB00727
Dauxona
Deponit
Deponit 5
Deponit TTS 10
Deponit TTS 5
Deponit-5
Diafusor
Discotrine
Dynamite
EINECS 200-240-8
Epinitril
GTN
GTN-Pohl
Gepan Nitroglicerin
Gilucor nitro
Gilustenon
Glonoin
Glycerin trinitrate
Glycerine trinitrate
Glycerintrinitrate
Glycerol trinitrate
Glycerol, nitric acid triester
Glyceroli trinitratis
Glyceroltrinitraat
Glyceroltrinitrat
Glyceryl
Glyceryl nitrate
Glyceryl trinitrate
Glycerylnitrat
Glytrin
HMS2094M15
HSDB 30
Herwicard
Herzer
IMX-150
Klavikordal
LS-7741
Lenitral
Lentonitrina
MED-2002
MQX-503
Mi-Trates
Millisrol
Minitram
Minitran
Minitran (TN)
Minitro
Mionitrat
Myocon
Myoglycerin
Myovin
NG
NITRO IV
NK-843
NTG
Natispray
Neos nitro OPT
Niglin
Niglycon
Niong
Niong Retard
Nirmin
Nit-Ret
Nitora
Nitradisc
Nitradisc Pad
Nitradisc TTS
Nitrangin
Nitrek
Nitriderm
Nitriderm TTS
Nitrine-TDC
Nitro Bid
Nitro Dur
Nitro Dur TTS
Nitro Mack Retard
Nitro Retard
Nitro Rorer
Nitro-Bid
Nitro-Dur 10
Nitro-Dur 5
Nitro-Gesanit Retard
Nitro-M-Bid
Nitro-Mack Retard
Nitro-Par
Nitro-Pflaster
Nitro-Span
Nitro-Time
Nitro-bid (TN)
Nitro-dur
Nitro-dur (TN)
Nitro-lent
NitroBid
NitroCor
 
NitroDur
NitroMist
NitroQuick
NitroQuik
Nitroard
Nitrobaat
Nitrobid Oint
Nitrobukal
Nitrocap
NitrocapT.D
NitrocapT.D.
Nitrocard
Nitrocerin
Nitrocine
Nitrocine 5
Nitroclyn
Nitrocontin
Nitrocontin Continus
Nitrocot
Nitroderm
Nitroderm TTS
Nitroderm TTS Ext
Nitroderm TTS-5
Nitrodisc
Nitrodyl
Nitrodyl TTS
Nitrogard
Nitrogard-SR
Nitroglicerina
Nitrogliceryna
Nitroglin
Nitroglycerin
Nitroglycerin (NG)
Nitroglycerin ointment
Nitroglycerin-ACC
Nitroglycerine
Nitroglycerol
Nitroglyn
Nitroject
Nitrol Ointment
Nitrolan
Nitroletten
Nitrolin
Nitrolingual
Nitrolingual Spray
Nitrolowe
Nitromack Retard
Nitromed
Nitromel
Nitromex
Nitromint
Nitromint Aerosol
Nitromint Retard
Nitromist
Nitromist (TN)
Nitronal Aqueous
Nitronet
Nitrong
Nitrong Retard
Nitrong parenteral
Nitrong-SR
Nitropatch
Nitropen
Nitropercuten
Nitroperlinit
Nitroplast
Nitroprol
Nitropront
Nitroprontan
Nitrorectal
Nitroretard
Nitrorex
Nitrospan
Nitrostabilin
Nitrostat
Nitrovis
Nitrozell retard
Nysconitrine
Percutol
Percutol Oint
Percutol Oint.
Perganit
Perglottal
Perlinganit
Plastranit
Polnitrin
Propane-1,2,3-triyl trinitrate
RCRA waste no. P081
Ratiopharm
Rectogesic
SDM No. 17
SK-106N
SK-866
SK-878
Soup
Spirit of glonoin
Susadrin
Suscard
Sustac
Sustak
Sustonit
TNG
Temponitrin
Top-Nitro
Transderm Nitro
Transderm nitro
Transderm-N TTS
Transderm-Nitro TTS
Transderm-nitro
Transderm-nitro (TN)
Transiderm-nitro
Tridil
Tridil sublin
Trinalgon
Trinipatch
Triniplas
Trinitrate, Glyceryl
Trinitrin
Trinitrin Tablets
Trinitrina Erba
Trinitrine
Trinitroglycerin
Trinitroglycerol
Trinitrol
Trinitrolong
Trinitron
Trinitrosan
Turicard
UN0143
UN0144
UN1204
UN3064
UN3319
UNII-G59M7S0WS3
Vascana
Vasoglyn
Vasolator
Vernies
Willong
c0061
nitroglycerin
2
Salmon Calcitoninapproved, investigational9147931-85-116129616
Synonyms:
135506-95-5
47931-85-1
Astronin
Biocalcin
Bionocalcin
C028815
C06865
C145H239N43O48S2
CALCITONIN, SALMON
Cadens
Calciben
Calcihexal
Calcimar
Calcimar (TN)
Calcimonta
Calcinil
Calcioton
Calcitonin (Salmon Synthetic)
Calcitonin (salmon)
Calcitonin 1 precursor
Calcitonin Salmon
Calcitonin [USAN:INN:BAN:JAN]
Calcitonin salmon
Calcitonin salmon (USAN/INN)
Calcitonin salmon (synthesis)
Calcitonin salmon (synthesis) (JAN)
Calcitonin salmon recombinant
Calcitonin vom lachs
Calcitonin, salmar
Calcitonin, salmon
Calcitonin, salmon, for bioassay
Calcitonin,salmon
Calcitonin-salmon
Calcitonina
Calcitonine de saumon
Calcitoran
Calco
Calogen
Calsynar
Calsynar Lyo L
Caltine
Casalm
Catonin
Cibacalcin
Cibacalcine
Citonina
 
D00249
EINECS 256-342-8
Eptacalcin
Forcaltonin
Fortical
Fortical (TN)
Ipocalcin
Isi-calcin
Kalsimin
Karil
LS-48624
Miacalcic
Miacalcin
Miacalcin (TN)
Miracalcic
Oseototal
Osseocalcina
Osteobion
Osteovis
Ostosalm
Ostostabil
Porostenina
Prontocalcin
Quosten
Riostin
Rulicalcin
Salcat
Salcatonin
Salcatyn
Salmocalcin
Salmofar
Salmon calcitonin
Salmon calcitonin I
Salmon calcitonin-(I-32)
Salmotonin
Sical
Stalcin
Staporos
Steocin
TZ-CT
Thyrocalcitonin (salmon)
Tonocalcin
UNII-7SFC6U2VI5
Ucecal
recombinant salmon calcitonin
salmon calcitonin (1-32)
synthetic salmon calcitonin
3
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
4Calcitonin Gene-Related Peptide91
5calcitonin103
6Bone Density Conservation Agents3266
7Vasodilator Agents3438
8pancreatin935

Interventional clinical trials:

idNameStatusNCT IDPhase
1Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic MigraineCompletedNCT00541736
2Calcitonin Gene Related Peptide-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2.CompletedNCT00358839
3Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2CompletedNCT00257985
4Calcitonin Gene-related Peptide in Familial Hemiplegic Migraine (FHM) and Migraine With Aura (MA)CompletedNCT00687947
5Genetic Analysis of Children With Cyclic Vomiting Syndrome (CVS) and MigrainesRecruitingNCT00727974

Search NIH Clinical Center for Familial Hemiplegic Migraine

Genetic Tests for Familial Hemiplegic Migraine

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Genetic tests related to Familial Hemiplegic Migraine:

id Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine27 24 SCN1A

Anatomical Context for Familial Hemiplegic Migraine

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MalaCards organs/tissues related to Familial Hemiplegic Migraine:

36
Bone, Brain, Trigeminal ganglion, Thalamus, Kidney, Cerebellum, Testes

Publications for Familial Hemiplegic Migraine

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Articles related to Familial Hemiplegic Migraine:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1. (27314908)
2016
2
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. (26911348)
2016
3
Loss of inhibition by brain natriuretic peptide over P2X3 receptors contributes to enhanced spike firing of trigeminal ganglion neurons in a mouse model of familial hemiplegic migraine type-1. (27346147)
2016
4
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. (27354390)
2016
5
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. (26763045)
2016
6
Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation. (27818813)
2016
7
Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide. (27538634)
2016
8
A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. (27919014)
2016
9
Inefficient constitutive inhibition of P2X3 receptors by brain natriuretic peptide system contributes to sensitization of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine. (27175010)
2016
10
Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation. (27226003)
2016
11
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. (26032020)
2015
12
Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice. (25481823)
2015
13
Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice. (25447936)
2015
14
Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis: A Case Report. (26087244)
2015
15
Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura. (25948653)
2015
16
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. (25411546)
2015
17
Familial hemiplegic migraine type 1 associated with parkinsonism: a case report. (25969684)
2015
18
Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans. (25741235)
2015
19
Familial hemiplegic migraine and spreading depression. (25143767)
2014
20
Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. (24646837)
2014
21
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. (25274239)
2014
22
Familial hemiplegic migraine: A model for the genetic studies of migraine. (24707017)
2014
23
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. (24898624)
2014
24
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. (23918834)
2014
25
Two novel SCN1A mutations identified in families with familial hemiplegic migraine. (24707016)
2014
26
Biochemical characterization of sporadic/familial hemiplegic migraine mutations. (24704353)
2014
27
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1. (24583041)
2014
28
An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation. (26675662)
2014
29
Familial hemiplegic migraine treated by sodium valproate and lamotrigine. (24443394)
2014
30
Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i. (24849341)
2014
31
Pharmacological Correction of Gating Defects in the Voltage-Gated Cav2.1 Ca(2+) Channel due to a Familial Hemiplegic Migraine Mutation. (24411734)
2014
32
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. (23985897)
2013
33
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects. (24101488)
2013
34
Monozygotic twin sisters discordant for familial hemiplegic migraine. (24041236)
2013
35
Acute encephalopathy in familial hemiplegic migraine with ATP1A2 mutation. (23761507)
2013
36
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. (24096472)
2013
37
Differential trigeminovascular nociceptive responses in the thalamus in the familial hemiplegic migraine 1 knock-in mouse: A Fos protein study. (24355314)
2013
38
Delayed recovery post anesthesia: an atypical presentation of familial hemiplegic migraine. (24347352)
2013
39
Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy. (24136331)
2013
40
TNFI+ levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraine. (23326332)
2013
41
The mechanism of functional up-regulation of P2X3 receptors of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine type 1 (FHM-1). (23577145)
2013
42
Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models. (23561701)
2013
43
Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions. (23954377)
2013
44
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels. (23430985)
2013
45
Stroke and familial hemiplegic migraine. (22608661)
2012
46
Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine. (22117059)
2012
47
Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held. (22956801)
2012
48
Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2). (22661290)
2012
49
Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels. (22549042)
2012
50
Variable manifestations of familial hemiplegic migraine associated with reversible cerebral edema in children. (22883286)
2012

Variations for Familial Hemiplegic Migraine

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Clinvar genetic disease variations for Familial Hemiplegic Migraine:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CACNA1ANM_001127221.1(CACNA1A): c.1997C> T (p.Thr666Met)SNVPathogenicrs121908212GRCh37Chr 19, 13414691: 13414691
2CACNA1ANM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln)SNVPathogenicrs121908217GRCh37Chr 19, 13419266: 13419266
3CACNA1ANM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr)SNVPathogenicrs121909326GRCh37Chr 19, 13346033: 13346033
4CACNA1ANG_011569.1: g.(286795_296853)_(303563_305019)deldeletionPathogenicGRCh38Chr 19, 13206442: 13224666

Expression for genes affiliated with Familial Hemiplegic Migraine

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Search GEO for disease gene expression data for Familial Hemiplegic Migraine.

Pathways for genes affiliated with Familial Hemiplegic Migraine

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Pathways related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:

(show all 22)
idSuper pathwaysScoreTop Affiliating Genes
19.9SCN1A, SCN5A
29.3ATP1A2, ATP1A3, ATP1B1
39.3ATP1A2, ATP1A3, ATP1B1
49.3ATP1A2, ATP1A3, ATP1B1
59.3ATP1A2, ATP1A3, ATP1B1
6
Show member pathways
9.3ATP1A2, ATP1A3, ATP1B1
79.3ATP1A2, ATP1A3, ATP1B1
89.3ATP1A2, ATP1A3, ATP1B1
99.3ATP1A2, ATP1A3, ATP1B1
109.3ATP1A2, ATP1A3, ATP1B1
119.3ATP1A2, ATP1A3, ATP1B1
129.2CALCA, GNAI2, GNB1
139.0ATP1A2, ATP1A3, ATP1B1, NOTCH3
14
Show member pathways
8.9ATP1A2, ATP1A3, ATP1B1, GNAI2
15
Show member pathways
8.9ATP1A2, ATP1A3, ATP1B1, GNAI2
16
Show member pathways
8.8CACNA1A, GNAI2, GNB1, SCN1A, SCN5A
178.7CALCA, NOTCH3, OPRM1, SCN1A, SCN5A
18
Show member pathways
8.7ATP1A2, ATP1A3, ATP1B1, SCN1A, SCN5A
19
Show member pathways
8.6CACNA1A, GNAI2, GNB1, OPRM1, SCN1A
20
Show member pathways
8.6ATP1A2, ATP1A3, ATP1B1, GNAI2, SCN5A
21
Show member pathways
8.4ATP1B1, CACNA1A, CALCA, GNAI2, GNB1
22
Show member pathways
7.9ATP1A2, ATP1A3, ATP1B1, KCNK18, SCN1A, SCN5A

GO Terms for genes affiliated with Familial Hemiplegic Migraine

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Cellular components related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1caveolaGO:000590110.1ATP1A2, ATP1B1, SCN5A
2T-tubuleGO:00303159.9ATP1A2, SCN1A, SCN5A
3voltage-gated sodium channel complexGO:00015189.9SCN1A, SCN5A
4intercalated discGO:00147049.8ATP1A2, ATP1B1, SCN1A, SCN5A
5sodium:potassium-exchanging ATPase complexGO:00058909.7ATP1A2, ATP1A3, ATP1B1
6dendriteGO:00304259.7CACNA1A, GNAI2, GNB1, OPRM1
7myelin sheathGO:00432099.6ATP1A2, ATP1A3, ATP1B1, GNB1
8extracellular vesicleGO:19035619.2ATP1A2, ATP1A3, ATP1B1, GNAI2, GNB1
9intracellularGO:00056229.1ATP1B1, CALCA, GNB1, PRKCSH, SCN5A
10sarcolemmaGO:00423838.9ATP1A2, ATP1A3, ATP1B1, OPRM1, SCN5A
11plasma membraneGO:00058866.0ATP1A2, ATP1A3, ATP1B1, CACNA1A, GNAI2, GNB1

Biological processes related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1cellular response to steroid hormone stimulusGO:007138310.6ATP1A2, ATP1A3
2membrane depolarizationGO:005189910.6CACNA1A, SCN5A
3neuronal action potentialGO:001922810.6SCN1A, SCN5A
4membrane depolarization during cardiac muscle cell action potentialGO:008601210.6ATP1A2, SCN5A
5gamma-aminobutyric acid signaling pathwayGO:000721410.5CACNA1A, GNAI2
6regulation of postsynaptic membrane potentialGO:006007810.5SCN1A, SCN5A
7response to glycosideGO:190341610.5ATP1A2, ATP1A3
8regulation of cardiac muscle cell contractionGO:008600410.5ATP1A2, SCN5A
9response to painGO:004826510.4CACNA1A, CALCA
10membrane depolarization during action potentialGO:008601010.3CACNA1A, SCN1A, SCN5A
11G-protein coupled acetylcholine receptor signaling pathwayGO:000721310.3GNAI2, GNB1
12membrane repolarizationGO:008600910.3ATP1A2, ATP1B1
13potassium ion import across plasma membraneGO:199057310.3ATP1A2, ATP1B1
14negative regulation of adenylate cyclase activityGO:000719410.2GNAI2, OPRM1
15adenylate cyclase-activating dopamine receptor signaling pathwayGO:000719110.2GNB1, OPRM1
16relaxation of cardiac muscleGO:005511910.2ATP1A2, ATP1B1
17positive regulation of cytosolic calcium ion concentrationGO:000720410.1CACNA1A, CALCA, GNB1
18cell communication by electrical coupling involved in cardiac conductionGO:008606410.0ATP1A2, ATP1A3, ATP1B1
19cellular potassium ion homeostasisGO:003000710.0ATP1A2, ATP1A3, ATP1B1
20cellular sodium ion homeostasisGO:000688310.0ATP1A2, ATP1A3, ATP1B1
21establishment or maintenance of transmembrane electrochemical gradientGO:001024810.0ATP1A2, ATP1A3, ATP1B1
22potassium ion importGO:001010710.0ATP1A2, ATP1A3, ATP1B1
23regulation of cardiac conductionGO:19037799.9ATP1A2, ATP1A3, ATP1B1
24protein foldingGO:00064579.9GNAI2, GNB1, PRKCSH
25sodium ion export from cellGO:00363769.8ATP1A2, ATP1A3, ATP1B1
26cardiac muscle contractionGO:00600489.7ATP1A2, ATP1A3, ATP1B1, SCN5A
27cellular calcium ion homeostasisGO:00068749.7ATP1B1, CALCA, XK
28potassium ion transportGO:00068139.1ATP1A2, ATP1A3, ATP1B1, KCNK18
29sodium ion transportGO:00068148.7ATP1A2, ATP1A3, ATP1B1, SCN1A, SCN5A

Molecular functions related to Familial Hemiplegic Migraine according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1potassium ion bindingGO:003095510.4ATP1A2, ATP1B1
2steroid hormone bindingGO:199023910.3ATP1A2, ATP1A3
3voltage-gated sodium channel activityGO:00052489.9SCN1A, SCN5A
4sodium ion bindingGO:00314029.7ATP1A2, ATP1B1, SCN1A
5sodium:potassium-exchanging ATPase activityGO:00053919.7ATP1A2, ATP1A3, ATP1B1
6protein bindingGO:00055155.4ATP1A2, ATP1A3, ATP1B1, CACNA1A, CALCA, GNAI2

Sources for Familial Hemiplegic Migraine

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet