MCID: FML023
MIFTS: 51

Familial Hemiplegic Migraine

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Familial Hemiplegic Migraine

MalaCards integrated aliases for Familial Hemiplegic Migraine:

Name: Familial Hemiplegic Migraine 12 23 49 24 28 14 69
Hemiplegic Migraine, Familial 72 49 24
Hemiplegic-Ophthalmoplegic Migraine 49 24
Migraine, Familial Hemiplegic 13
Hemiplegic Migraine Familial 51
Fhm 49

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 Ontology 12 DOID:0060178
ICD10 32 G43.8
ICD9CM 34 346.8

Summaries for Familial Hemiplegic Migraine

NIH Rare Diseases : 49 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 sporadic hemiplegic migraine and alternating hemiplegia of childhood. An important gene associated with Familial Hemiplegic Migraine is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. The drugs Nitroglycerin and Salmon Calcitonin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and trigeminal ganglion, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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.

Disease Ontology : 12 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 : 72 Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically... more...

GeneReviews: NBK1388

Related Diseases for Familial Hemiplegic Migraine

Diseases in the Hemiplegic Migraine family:

Migraine, Familial Hemiplegic, 1 Migraine, Familial Hemiplegic, 2
Migraine, Familial Hemiplegic, 3 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 50)
# Related Disease Score Top Affiliating Genes
1 sporadic hemiplegic migraine 32.1 ATP1A2 CACNA1A SCN1A
2 alternating hemiplegia of childhood 32.0 ATP1A2 ATP1A3 CACNA1A CALCA
3 migraine with or without aura 1 30.7 ATP1A2 ATP1A3 CACNA1A CALCA NOTCH3 SCN1A
4 headache 29.5 ATP1A2 CACNA1A CALCA SCN1A
5 hemiplegia 29.4 ATP1A2 ATP1A3 CACNA1A CALCA SCN1A
6 migraine with aura 29.4 ATP1A2 CACNA1A NOTCH3 SCN1A
7 hemiplegic migraine 29.1 ATP1A2 ATP1A3 CACNA1A CALCA GNAI2 NOTCH3
8 migraine, familial hemiplegic, 1 12.2
9 migraine, familial hemiplegic, 2 12.2
10 migraine, familial hemiplegic, 3 12.2
11 alternating hemiplegia of childhood 1 11.3
12 alternating hemiplegia of childhood 2 11.1
13 hemiplegia alterans 11.1
14 neuronitis 10.4
15 ataxia and polyneuropathy, adult-onset 10.4
16 epilepsy 10.3
17 encephalopathy 10.3
18 aceruloplasminemia 10.2
19 ataxia-oculomotor apraxia 3 10.2
20 cerebritis 10.2
21 cluster headache 10.2 CACNA1A CALCA
22 quadriplegia 10.2 ATP1A2 ATP1A3
23 visual epilepsy 10.1 ATP1A3 SCN1A
24 cerebellar disease 10.1 ATP1A3 CACNA1A
25 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1
26 spinocerebellar ataxia 6 10.1
27 hydrops, lactic acidosis, and sideroblastic anemia 10.1
28 autosomal dominant cerebellar ataxia 10.1
29 familial or sporadic hemiplegic migraine 10.1 ATP1A2 CACNA1A SCN1A
30 seizure disorder 10.1 ATP1A3 SCN1A
31 migraine without aura 10.0 ATP1A2 CACNA1A SCN1A
32 allergic hypersensitivity disease 10.0
33 episodic ataxia 10.0
34 nervous system disease 9.9 CACNA1A SCN1A TRPV1
35 pulmonary hypertension, primary, 1 9.9
36 aging 9.9
37 branchiootic syndrome 1 9.9
38 episodic pain syndrome, familial, 1 9.9
39 brain injury 9.9
40 traumatic brain injury 9.9
41 status epilepticus 9.9
42 retinitis 9.9
43 erdheim-chester disease 9.9
44 retinal degeneration 9.9
45 meningitis 9.9
46 hemicrania continua 9.9
47 febrile seizures 9.9
48 central nervous system disease 9.9 CACNA1A SCN1A TRPV1
49 bone resorption disease 9.8 CALCA TRPV1
50 bone remodeling disease 9.7 CALCA TRPV1

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



Diseases related to Familial Hemiplegic Migraine

Symptoms & Phenotypes for Familial Hemiplegic Migraine

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

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.01 NOTCH3 PRKCSH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.01 PRKCSH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.01 SCN5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.01 GNAI2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.01 SCN5A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.01 GNAI2 NOTCH3 SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.01 SCN5A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.01 GNAI2 NOTCH3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.01 NOTCH3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.01 SCN1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.01 SCN1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.01 SCN1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.01 SCN5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.01 SCN5A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.01 SCN1A GNAI2 NOTCH3 SCN5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.01 SCN5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.01 SCN1A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.01 PRKCSH
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.01 NOTCH3 SCN5A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.01 SCN5A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.01 GNAI2 NOTCH3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.01 SCN1A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.01 SCN1A NOTCH3 PRKCSH

MGI Mouse Phenotypes related to Familial Hemiplegic Migraine:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATP1A2 SCN1A SCN5A ATP1A3 TRPV1 CACNA1A
2 mortality/aging MP:0010768 9.92 NOTCH3 PRKCSH ATP1A2 SCN1A SCN5A ATP1A3
3 nervous system MP:0003631 9.76 ATP1A2 SCN1A SCN5A ATP1A3 TRPV1 CACNA1A
4 muscle MP:0005369 9.65 NOTCH3 ATP1A2 SCN5A ATP1A3 CACNA1A
5 normal MP:0002873 9.43 ATP1A2 SCN1A SCN5A CACNA1A GNAI2 NOTCH3
6 respiratory system MP:0005388 9.02 NOTCH3 ATP1A2 ATP1A3 CACNA1A GNAI2

Drugs & Therapeutics for Familial Hemiplegic Migraine

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitroglycerin Approved, Investigational 55-63-0 4510
2
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
3 Vasodilator Agents
4 Bone Density Conservation Agents
5 calcitonin
6 Calcitonin Gene-Related Peptide

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Completed NCT00541736 Nitroglycerine
2 Calcitonin Gene Related Peptide-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2. Completed NCT00358839 CGRP
3 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2 Completed NCT00257985 GTN
4 Calcitonin Gene-related Peptide in Familial Hemiplegic Migraine (FHM) and Migraine With Aura (MA) Completed NCT00687947 CGRP

Search NIH Clinical Center for Familial Hemiplegic Migraine

Genetic Tests for Familial Hemiplegic Migraine

Genetic tests related to Familial Hemiplegic Migraine:

# Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine 28

Anatomical Context for Familial Hemiplegic Migraine

MalaCards organs/tissues related to Familial Hemiplegic Migraine:

38
Brain, Bone, Trigeminal Ganglion, Thalamus, Kidney, Cerebellum, Testes

Publications for Familial Hemiplegic Migraine

Articles related to Familial Hemiplegic Migraine:

(show top 50) (show all 234)
# Title Authors Year
1
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. ( 28169007 )
2017
2
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. ( 28900389 )
2017
3
Enhanced susceptibility to cortical spreading depression in two types of Na<sup>+</sup>,K<sup>+</sup>-ATPase I+2 subunit-deficient mice as a model of familial hemiplegic migraine 2. ( 29041816 )
2017
4
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment. ( 28856914 )
2017
5
Mild Traumatic Brain Injury in a High School Football Player with Familial Hemiplegic Migraine: A Case Report. ( 28918117 )
2017
6
Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation: A Case Series. ( 28445178 )
2017
7
The I+2I^2 isoform combination dominates the astrocytic Na(+) /K(+) -ATPase activity and is rendered nonfunctional by the I+2.G301R familial hemiplegic migraine type 2-associated mutation. ( 28787093 )
2017
8
Hyperpolarization-activated current Ih in mouse trigeminal sensory neurons in a transgenic mouse model of familial hemiplegic migraine type-1. ( 28363781 )
2017
9
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1. ( 27314908 )
2016
10
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
11
A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. ( 27919014 )
2016
12
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
13
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. ( 27354390 )
2016
14
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. ( 26911348 )
2016
15
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. ( 26763045 )
2016
16
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
17
Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation. ( 27818813 )
2016
18
Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide. ( 27538634 )
2016
19
Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 25447936 )
2015
20
Cortical spreading depression and familial hemiplegic migraine 2015. ( 28132368 )
2015
21
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. ( 26032020 )
2015
22
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
23
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. ( 25411546 )
2015
24
Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura. ( 25948653 )
2015
25
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
26
Familial hemiplegic migraine type 1 associated with parkinsonism: a case report. ( 25969684 )
2015
27
Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis: A Case Report. ( 26087244 )
2015
28
Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. ( 24646837 )
2014
29
Pharmacological Correction of Gating Defects in the Voltage-Gated Cav2.1 Ca(2+) Channel due to a Familial Hemiplegic Migraine Mutation. ( 24411734 )
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
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. ( 24898624 )
2014
32
Familial hemiplegic migraine treated by sodium valproate and lamotrigine. ( 24443394 )
2014
33
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. ( 25274239 )
2014
34
Biochemical characterization of sporadic/familial hemiplegic migraine mutations. ( 24704353 )
2014
35
Two novel SCN1A mutations identified in families with familial hemiplegic migraine. ( 24707016 )
2014
36
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1. ( 24583041 )
2014
37
Familial hemiplegic migraine: A model for the genetic studies of migraine. ( 24707017 )
2014
38
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
39
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. ( 23918834 )
2014
40
Familial hemiplegic migraine and spreading depression. ( 25143767 )
2014
41
Acute encephalopathy in familial hemiplegic migraine with ATP1A2 mutation. ( 23761507 )
2013
42
Monozygotic twin sisters discordant for familial hemiplegic migraine. ( 24041236 )
2013
43
Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy. ( 24136331 )
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
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. ( 23985897 )
2013
46
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
47
TNFI+ levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraine. ( 23326332 )
2013
48
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. ( 24096472 )
2013
49
Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models. ( 23561701 )
2013
50
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects. ( 24101488 )
2013

Variations for Familial Hemiplegic Migraine

ClinVar genetic disease variations for Familial Hemiplegic Migraine:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918615 GRCh37 Chromosome 1, 160109525: 160109525
2 ATP1A2 NM_000702.3(ATP1A2): c.1261C> T (p.Arg421Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 1, 160098814: 160098814

Expression for Familial Hemiplegic Migraine

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

Pathways for Familial Hemiplegic Migraine

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 CACNA1A GNAI2 SCN1A SCN5A
2
Show member pathways
12.43 ATP1A2 ATP1A3 SCN1A SCN5A
3
Show member pathways
12.23 ATP1A2 ATP1A3 GNAI2 SCN5A
4
Show member pathways
12.05 ATP1A2 ATP1A3 SCN1A SCN5A
5
Show member pathways
11.91 ATP1A2 ATP1A3 GNAI2
6
Show member pathways
11.72 ATP1A2 ATP1A3 GNAI2
7 11.46 CALCA NOTCH3 SCN1A SCN5A
8 11.24 ATP1A2 ATP1A3
9 11.2 ATP1A2 ATP1A3
10 11.2 ATP1A2 ATP1A3 NOTCH3
11 11.14 ATP1A2 ATP1A3
12 11.05 ATP1A2 ATP1A3
13 10.93 SCN1A SCN5A
14 10.73 ATP1A2 ATP1A3

GO Terms for Familial Hemiplegic Migraine

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.73 ATP1A2 ATP1A3 CACNA1A TRPV1
2 sarcolemma GO:0042383 9.5 ATP1A2 ATP1A3 SCN5A
3 extracellular vesicle GO:1903561 9.43 ATP1A2 ATP1A3 GNAI2
4 voltage-gated sodium channel complex GO:0001518 9.4 SCN1A SCN5A
5 sodium:potassium-exchanging ATPase complex GO:0005890 9.37 ATP1A2 ATP1A3
6 intercalated disc GO:0014704 9.33 ATP1A2 SCN1A SCN5A
7 T-tubule GO:0030315 9.13 ATP1A2 SCN1A SCN5A
8 neuronal cell body GO:0043025 9.02 ATP1A3 CACNA1A CALCA SCN1A TRPV1
9 plasma membrane GO:0005886 10.06 ATP1A2 ATP1A3 CACNA1A GNAI2 NOTCH3 SCN1A

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 CACNA1A SCN1A SCN5A TRPV1
2 regulation of ion transmembrane transport GO:0034765 9.79 CACNA1A SCN1A SCN5A
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.76 CACNA1A CALCA TRPV1
4 visual learning GO:0008542 9.66 ATP1A2 ATP1A3
5 regulation of postsynaptic membrane potential GO:0060078 9.65 SCN1A SCN5A
6 response to heat GO:0009408 9.65 CALCA TRPV1
7 cellular response to nerve growth factor stimulus GO:1990090 9.64 CALCA TRPV1
8 regulation of heart rate GO:0002027 9.64 CALCA SCN5A
9 adult walking behavior GO:0007628 9.63 CACNA1A SCN1A
10 neuronal action potential GO:0019228 9.63 SCN1A SCN5A
11 ion transport GO:0006811 9.63 ATP1A2 ATP1A3 CACNA1A SCN1A SCN5A TRPV1
12 cellular response to amyloid-beta GO:1904646 9.62 ATP1A3 CACNA1A
13 sodium ion transport GO:0006814 9.62 ATP1A2 ATP1A3 SCN1A SCN5A
14 gamma-aminobutyric acid signaling pathway GO:0007214 9.61 CACNA1A GNAI2
15 potassium ion import GO:0010107 9.61 ATP1A2 ATP1A3
16 membrane depolarization GO:0051899 9.6 CACNA1A SCN5A
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 SCN1A SCN5A
18 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.57 CALCA TRPV1
19 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.56 ATP1A2 ATP1A3
20 cellular response to steroid hormone stimulus GO:0071383 9.55 ATP1A2 ATP1A3
21 cellular sodium ion homeostasis GO:0006883 9.54 ATP1A2 ATP1A3
22 cardiac muscle contraction GO:0060048 9.54 ATP1A2 ATP1A3 SCN5A
23 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.52 ATP1A2 ATP1A3
24 regulation of cardiac muscle cell contraction GO:0086004 9.51 ATP1A2 SCN5A
25 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.49 ATP1A2 SCN5A
26 behavioral response to pain GO:0048266 9.48 CACNA1A TRPV1
27 cellular potassium ion homeostasis GO:0030007 9.46 ATP1A2 ATP1A3
28 sodium ion export across plasma membrane GO:0036376 9.43 ATP1A2 ATP1A3
29 membrane depolarization during action potential GO:0086010 9.43 CACNA1A SCN1A SCN5A
30 response to glycoside GO:1903416 9.4 ATP1A2 ATP1A3
31 response to pain GO:0048265 9.13 CACNA1A CALCA TRPV1
32 ion transmembrane transport GO:0034220 9.1 ATP1A2 ATP1A3 CACNA1A SCN1A SCN5A TRPV1
33 transport GO:0006810 10.07 ATP1A2 ATP1A3 CACNA1A SCN1A SCN5A TRPV1

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.43 CACNA1A SCN1A SCN5A
2 phosphoprotein binding GO:0051219 9.4 PRKCSH TRPV1
3 sodium channel activity GO:0005272 9.37 SCN1A SCN5A
4 voltage-gated sodium channel activity GO:0005248 9.32 SCN1A SCN5A
5 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP1A2 ATP1A3
6 steroid hormone binding GO:1990239 8.96 ATP1A2 ATP1A3
7 ion channel activity GO:0005216 8.92 CACNA1A SCN1A SCN5A TRPV1

Sources for Familial Hemiplegic Migraine

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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