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 47 24 25 13 67
Hemiplegic Migraine, Familial 47 25 26
Hemiplegic-Ophthalmoplegic Migraine 47 25
Hemiplegic Migraine, Familial Type 1 67
 
Migraine, Familial Hemiplegic 12
Hemiplegic Migraine Familial 49
Fhm 47

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
ICD1029 G43.8
ICD9CM31 346.8
UMLS67 C0477373

Summaries for Familial Hemiplegic Migraine

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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.

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 muscle and normal.

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.

Wikipedia:70 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 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

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 Migraine26 24 SCN1A

Anatomical Context for Familial Hemiplegic Migraine

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MalaCards organs/tissues related to Familial Hemiplegic Migraine:

35
Bone, Brain, Trigeminal ganglion, Thalamus, Kidney, Cerebellum, Testes

Animal Models for Familial Hemiplegic Migraine or affiliated genes

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MGI Mouse Phenotypes related to Familial Hemiplegic Migraine:

40
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

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
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. (26032020)
2015
3
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
4
Familial hemiplegic migraine and spreading depression. (25143767)
2014
5
Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. (24646837)
2014
6
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. (23985897)
2013
7
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects. (24101488)
2013
8
Stroke and familial hemiplegic migraine. (22608661)
2012
9
Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine. (22117059)
2012
10
Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held. (22956801)
2012
11
Transient nonverbal learning disorder in a child suffering from Familial Hemiplegic Migraine. (21908445)
2011
12
Trigger factors for familial hemiplegic migraine. (21784774)
2011
13
Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice. (20631222)
2010
14
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. (19874388)
2009
15
FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2. (19007941)
2009
16
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2. (18728015)
2008
17
Familial hemiplegic migraine type 1 shows no hypersensitivity to nitric oxide. (18384418)
2008
18
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. (17397047)
2007
19
Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission. (15699344)
2005
20
Autopsy case of acute encephalopathy linked to familial hemiplegic migraine with cerebellar atrophy and mental retardation. (16193840)
2005
21
Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects. (15448138)
2004
22
Single-fiber EMG in familial hemiplegic migraine. (15557518)
2004
23
Toward a molecular genetic classification of familial hemiplegic migraine. (15115644)
2004
24
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. (15159495)
2004
25
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. (15534763)
2004
26
Serial MRI in a case of familial hemiplegic migraine. (12669159)
2003
27
New discoveries about the second gene for familial hemiplegic migraine, ATP1A2. (14636773)
2003
28
Magnetic resonance angiogram evidence of vasospasm in familial hemiplegic migraine. (12174974)
2002
29
Multimodal functional imaging of prolonged neurological deficits in a patient suffering from familial hemiplegic migraine. (12384224)
2002
30
A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria. (12023326)
2002
31
Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. (12235360)
2002
32
Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene. (11971066)
2002
33
Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus. (11735221)
2001
34
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. (11439943)
2001
35
Familial hemiplegic migraine and its abortive therapy with intravenous verapamil. (11706128)
2001
36
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. (11167897)
2000
37
Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. (10024348)
1999
38
Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis. (10202246)
1999
39
Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Dutch Migraine Genetics Research Group. (9566402)
1998
40
Wolff Award 1997. Involvement of a Ca2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Dutch Migraine Genetics Research Group. (9329229)
1997
41
Familial hemiplegic migraine: involvement of a calcium neuronal channel. (9436352)
1997
42
Familial hemiplegic migraine in developmental age: report of two cases. (9177612)
1996
43
Families linked and unlinked to chromosome 19 with familial hemiplegic migraine. (8734764)
1996
44
Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. (8572654)
1996
45
Common heredity of familial hemiplegic migraine and basilar artery migraine? (8706104)
1995
46
Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). (7486874)
1995
47
A gene for familial hemiplegic migraine maps to chromosome 19. (8220421)
1993
48
Respiratory arrest in familial hemiplegic migraine: a clinical and neuropathological study. (912273)
1977
49
Familial hemiplegic migraine. (13854572)
1960
50
Familial hemiplegic migraine. (13085199)
1953

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
1voltage-gated sodium channel complexGO:000151810.7SCN1A, SCN5A
2T-tubuleGO:003031510.3ATP1A2, SCN1A, SCN5A
3sodium:potassium-exchanging ATPase complexGO:000589010.0ATP1A2, ATP1A3, ATP1B1
4caveolaGO:00059019.7ATP1A2, ATP1B1, SCN5A
5intercalated discGO:00147049.1ATP1A2, ATP1B1, SCN1A, SCN5A
6myelin sheathGO:00432099.1ATP1A2, ATP1A3, ATP1B1, GNB1
7extracellular vesicleGO:19035618.9ATP1A2, ATP1A3, ATP1B1, GNAI2, GNB1
8sarcolemmaGO:00423838.8ATP1A2, ATP1A3, ATP1B1, OPRM1, SCN5A
9dendriteGO:00304258.7CACNA1A, GNAI2, GNB1, OPRM1
10intracellularGO:00056228.7ATP1B1, CALCA, GNB1, PRKCSH, SCN5A
11plasma membraneGO:00058865.5ATP1A2, 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:007138310.5ATP1A2, ATP1A3
2regulation of cardiac muscle cell contractionGO:008600410.5ATP1A2, SCN5A
3membrane depolarization during cardiac muscle cell action potentialGO:008601210.4ATP1A2, SCN5A
4response to glycosideGO:190341610.4ATP1A2, ATP1A3
5regulation of postsynaptic membrane potentialGO:006007810.4SCN1A, SCN5A
6gamma-aminobutyric acid signaling pathwayGO:000721410.4CACNA1A, GNAI2
7membrane depolarizationGO:005189910.4CACNA1A, SCN5A
8response to painGO:004826510.3CACNA1A, CALCA
9membrane depolarization during action potentialGO:008601010.2CACNA1A, SCN1A, SCN5A
10potassium ion import across plasma membraneGO:199057310.2ATP1A2, ATP1B1
11membrane repolarizationGO:008600910.2ATP1A2, ATP1B1
12relaxation of cardiac muscleGO:005511910.1ATP1A2, ATP1B1
13G-protein coupled acetylcholine receptor signaling pathwayGO:000721310.1GNAI2, GNB1
14neuronal action potentialGO:001922810.0SCN1A, SCN5A
15potassium ion importGO:00101079.9ATP1A2, ATP1A3, ATP1B1
16sodium ion export from cellGO:00363769.9ATP1A2, ATP1A3, ATP1B1
17establishment or maintenance of transmembrane electrochemical gradientGO:00102489.9ATP1A2, ATP1A3, ATP1B1
18cellular sodium ion homeostasisGO:00068839.9ATP1A2, ATP1A3, ATP1B1
19cell communication by electrical coupling involved in cardiac conductionGO:00860649.8ATP1A2, ATP1A3, ATP1B1
20cellular potassium ion homeostasisGO:00300079.8ATP1A2, ATP1A3, ATP1B1
21positive regulation of cytosolic calcium ion concentrationGO:00072049.8CACNA1A, CALCA, GNB1
22regulation of cardiac conductionGO:19037799.7ATP1A2, ATP1A3, ATP1B1
23adenylate cyclase-activating dopamine receptor signaling pathwayGO:00071919.5GNB1, OPRM1
24protein foldingGO:00064579.4GNAI2, GNB1, PRKCSH
25cardiac muscle contractionGO:00600489.3ATP1A2, ATP1A3, ATP1B1, SCN5A
26negative regulation of adenylate cyclase activityGO:00071949.2GNAI2, OPRM1
27sodium ion transportGO:00068149.2ATP1A2, ATP1A3, ATP1B1, SCN1A, SCN5A
28potassium ion transportGO:00068138.9ATP1A2, ATP1A3, ATP1B1, KCNK18
29cellular calcium ion homeostasisGO:00068748.9ATP1B1, CALCA, XK

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

idNameGO IDScoreTop Affiliating Genes
1steroid hormone bindingGO:199023910.6ATP1A2, ATP1A3
2voltage-gated sodium channel activityGO:000524810.6SCN1A, SCN5A
3potassium ion bindingGO:003095510.3ATP1A2, ATP1B1
4sodium ion bindingGO:003140210.0ATP1A2, ATP1B1, SCN1A
5sodium:potassium-exchanging ATPase activityGO:000539110.0ATP1A2, ATP1A3, ATP1B1
6protein bindingGO:00055155.0ATP1A2, ATP1A3, ATP1B1, CACNA1A, CALCA, GNAI2

Sources for Familial Hemiplegic Migraine

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
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44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
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57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet