MCID: FML023
MIFTS: 50

Familial Hemiplegic Migraine

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Familial Hemiplegic Migraine

MalaCards integrated aliases for Familial Hemiplegic Migraine:

Name: Familial Hemiplegic Migraine 12 23 50 24 25 29 14 69
Hemiplegic-Ophthalmoplegic Migraine 50 25
Hemiplegic Migraine, Familial 50 25
Migraine, Familial Hemiplegic 13
Hemiplegic Migraine Familial 52
Fhm 50

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 33 G43.8
ICD9CM 35 346.8
UMLS 69 C0477373

Summaries for Familial Hemiplegic Migraine

NIH Rare Diseases : 50 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-ophthalmoplegic migraine, is related to alternating hemiplegia of childhood and migraine, familial hemiplegic, 2. An important gene associated with Familial Hemiplegic Migraine is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Vascular smooth muscle contraction 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 mortality/aging

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.

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 : 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, 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 48)
id Related Disease Score Top Affiliating Genes
1 alternating hemiplegia of childhood 32.0 ATP1A2 ATP1A3 CACNA1A CALCA
2 migraine, familial hemiplegic, 2 11.9
3 migraine, familial hemiplegic, 3 11.9
4 migraine, familial hemiplegic, 1 11.9
5 hemiplegic migraine 11.6
6 episodic ataxia 11.3
7 sporadic hemiplegic migraine 11.1
8 hemiplegia alterans 11.0
9 migraine with or without aura 1 11.0
10 alternating hemiplegia of childhood 2 11.0
11 coarse face hypotonia constipation 10.4 CACNA1A CALCA
12 babesiosis 10.4 ATP1A2 CACNA1A
13 neuronitis 10.4
14 prolapse of female genital organ 10.4 ATP1A2 ATP1A3
15 glans penis cancer 10.3 ATP1A3 SCN1A
16 ataxia 10.3
17 spinocerebellar degeneration 10.3 ATP1A3 SCN1A
18 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.2 ATP1A2 CACNA1A SCN1A
19 epilepsy 10.2
20 encephalopathy 10.2
21 aneurysm 10.2 ATP1A2 CACNA1A SCN1A
22 cerebritis 10.2
23 cerebellar ataxia 10.2
24 hemiplegia 10.0
25 physical disorder 10.0 CALCA TRPV1
26 prostate carcinoma in situ 9.9 CACNA1A SCN1A TRPV1
27 tibial hemimelia cleft lip palate 9.9 ATP1A2 ATP1B1
28 bone deterioration disease 9.9 CALCA TRPV1
29 connective tissue cancer 9.9 CALCA TRPV1
30 headache 9.8
31 status epilepticus 9.8
32 retinitis 9.8
33 erdheim-chester disease 9.8
34 retinal degeneration 9.8
35 meningitis 9.8
36 hemicrania continua 9.8
37 brain injury 9.8
38 traumatic brain injury 9.8
39 migraine with aura 9.8
40 febrile seizures 9.8
41 hypersomnia 9.8 ATP1A2 CACNA1A CALCA SCN1A
42 pelvic inflammatory disease 9.7 ATP1A2 CACNA1A NOTCH3 SCN1A
43 spastic ataxia 1 9.6 PRKCSH TRPV1
44 acute salpingo-oophoritis 9.4 ATP1A2 ATP1A3 CACNA1A CALCA SCN1A
45 autism 19 9.4 PRKCSH TRPV1
46 albinism, oculocutaneous, type v 8.8 ATP1A2 CACNA1A CALCA NOTCH3 SCN1A TRPV1
47 hemolytic uremic syndrome, atypical, childhood 7.0 ATP1A2 ATP1A3 ATP1B1 CACNA1A CALCA NOTCH3
48 ischemic colitis 6.5 ATP1A2 ATP1A3 ATP1B1 CACNA1A CALCA NOTCH3

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:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 NOTCH3 PRKCSH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.6 PRKCSH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.6 NOTCH3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.6 NOTCH3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.6 NOTCH3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.6 SCN1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.6 SCN1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.6 SCN1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 NOTCH3 SCN1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.6 SCN1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.6 PRKCSH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 NOTCH3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.6 NOTCH3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.6 SCN1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.6 NOTCH3 PRKCSH SCN1A

MGI Mouse Phenotypes related to Familial Hemiplegic Migraine:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.92 CACNA1A NOTCH3 PRKCSH SCN1A SCN5A ATP1A2
2 behavior/neurological MP:0005386 9.91 ATP1A2 ATP1A3 CACNA1A NOTCH3 SCN1A SCN5A
3 muscle MP:0005369 9.73 ATP1A2 ATP1A3 ATP1B1 CACNA1A NOTCH3 SCN5A
4 nervous system MP:0003631 9.7 ATP1A2 ATP1A3 CACNA1A NOTCH3 SCN1A SCN5A
5 normal MP:0002873 9.43 ATP1A2 ATP1B1 CACNA1A NOTCH3 SCN1A SCN5A
6 respiratory system MP:0005388 9.02 ATP1A2 ATP1A3 ATP1B1 CACNA1A NOTCH3

Drugs & Therapeutics for Familial Hemiplegic Migraine

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

(show all 6)
id 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 Calcitonin Gene-Related Peptide
4 calcitonin
5 Vasodilator Agents
6 Bone Density Conservation Agents

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine 29 24 SCN1A

Anatomical Context for Familial Hemiplegic Migraine

MalaCards organs/tissues related to Familial Hemiplegic Migraine:

39
Brain, Bone, Trigeminal Ganglion, Testes, Kidney, Cerebellum, Thalamus

Publications for Familial Hemiplegic Migraine

Articles related to Familial Hemiplegic Migraine:

(show top 50) (show all 233)
id Title Authors Year
1
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment. ( 28856914 )
2017
2
Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation: A Case Series. ( 28445178 )
2017
3
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. ( 28169007 )
2017
4
Mild Traumatic Brain Injury in a High School Football Player with Familial Hemiplegic Migraine: A Case Report. ( 28918117 )
2017
5
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
6
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. ( 28900389 )
2017
7
Hyperpolarization-activated current Ih in mouse trigeminal sensory neurons in a transgenic mouse model of familial hemiplegic migraine type-1. ( 28363781 )
2017
8
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1. ( 27314908 )
2016
9
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. ( 26911348 )
2016
10
A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. ( 27919014 )
2016
11
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
12
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. ( 27354390 )
2016
13
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
14
Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation. ( 27818813 )
2016
15
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
16
Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide. ( 27538634 )
2016
17
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. ( 26763045 )
2016
18
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. ( 25411546 )
2015
19
Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis: A Case Report. ( 26087244 )
2015
20
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
21
Familial hemiplegic migraine type 1 associated with parkinsonism: a case report. ( 25969684 )
2015
22
Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 25447936 )
2015
23
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
24
Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura. ( 25948653 )
2015
25
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. ( 26032020 )
2015
26
Cortical spreading depression and familial hemiplegic migraine 2015. ( 28132368 )
2015
27
Familial hemiplegic migraine and spreading depression. ( 25143767 )
2014
28
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. ( 23918834 )
2014
29
Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. ( 24646837 )
2014
30
Familial hemiplegic migraine: A model for the genetic studies of migraine. ( 24707017 )
2014
31
Biochemical characterization of sporadic/familial hemiplegic migraine mutations. ( 24704353 )
2014
32
Pharmacological Correction of Gating Defects in the Voltage-Gated Cav2.1 Ca(2+) Channel due to a Familial Hemiplegic Migraine Mutation. ( 24411734 )
2014
33
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1. ( 24583041 )
2014
34
Two novel SCN1A mutations identified in families with familial hemiplegic migraine. ( 24707016 )
2014
35
Familial hemiplegic migraine treated by sodium valproate and lamotrigine. ( 24443394 )
2014
36
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
37
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. ( 24898624 )
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
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. ( 25274239 )
2014
40
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. ( 23985897 )
2013
41
Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy. ( 24136331 )
2013
42
Delayed recovery post anesthesia: an atypical presentation of familial hemiplegic migraine. ( 24347352 )
2013
43
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels. ( 23430985 )
2013
44
TNFI+ levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraine. ( 23326332 )
2013
45
Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models. ( 23561701 )
2013
46
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects. ( 24101488 )
2013
47
Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions. ( 23954377 )
2013
48
Monozygotic twin sisters discordant for familial hemiplegic migraine. ( 24041236 )
2013
49
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. ( 24096472 )
2013
50
Acute encephalopathy in familial hemiplegic migraine with ATP1A2 mutation. ( 23761507 )
2013

Variations for Familial Hemiplegic Migraine

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 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 ATP1A2 ATP1A3 ATP1B1 SCN5A
2
Show member pathways
12.56 ATP1A2 ATP1A3 ATP1B1 SCN1A SCN5A
3 12.32 CALCA NOTCH3 SCN1A SCN5A
4
Show member pathways
12.29 ATP1A2 ATP1A3 ATP1B1 TRPV1
5
Show member pathways
12.16 ATP1A2 ATP1A3 ATP1B1
6
Show member pathways
12.14 ATP1A2 ATP1A3 ATP1B1 SCN1A SCN5A
7
Show member pathways
12.05 ATP1A2 ATP1A3 ATP1B1
8
Show member pathways
11.94 ATP1A2 ATP1A3 ATP1B1
9
Show member pathways
11.81 ATP1A2 ATP1A3 ATP1B1
10 11.68 ATP1A2 ATP1A3 ATP1B1
11 11.55 ATP1A2 ATP1A3 ATP1B1
12 11.48 ATP1A2 ATP1A3 ATP1B1
13 11.32 ATP1A2 ATP1A3 ATP1B1 NOTCH3
14 11.29 ATP1A2 ATP1A3 ATP1B1
15 11.22 ATP1A2 ATP1A3 ATP1B1
16 11.14 ATP1A2 ATP1A3 ATP1B1
17 11.05 SCN1A SCN5A
18 11 ATP1A2 ATP1A3 ATP1B1
19 10.16 ATP1A2 ATP1A3 ATP1B1

GO Terms for Familial Hemiplegic Migraine

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.67 ATP1A3 CALCA SCN1A
2 neuronal cell body GO:0043025 9.65 ATP1A3 CACNA1A CALCA SCN1A TRPV1
3 myelin sheath GO:0043209 9.63 ATP1A2 ATP1A3 ATP1B1
4 caveola GO:0005901 9.58 ATP1A2 ATP1B1 SCN5A
5 extracellular vesicle GO:1903561 9.54 ATP1A2 ATP1A3 ATP1B1
6 T-tubule GO:0030315 9.5 ATP1A2 SCN1A SCN5A
7 sarcolemma GO:0042383 9.46 ATP1A2 ATP1A3 ATP1B1 SCN5A
8 voltage-gated sodium channel complex GO:0001518 9.43 SCN1A SCN5A
9 sodium:potassium-exchanging ATPase complex GO:0005890 9.13 ATP1A2 ATP1A3 ATP1B1
10 intercalated disc GO:0014704 8.92 ATP1A2 ATP1B1 SCN1A SCN5A
11 plasma membrane GO:0005886 10.08 ATP1A2 ATP1A3 ATP1B1 CACNA1A NOTCH3 SCN1A

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

(show all 38)
id 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 9.81 CACNA1A SCN1A SCN5A
3 potassium ion transport GO:0006813 9.81 ATP1A2 ATP1A3 ATP1B1
4 positive regulation of cytosolic calcium ion concentration GO:0007204 9.8 CACNA1A CALCA TRPV1
5 regulation of cardiac conduction GO:1903779 9.71 ATP1A2 ATP1A3 ATP1B1
6 membrane depolarization during action potential GO:0086010 9.7 CACNA1A SCN1A SCN5A
7 ion transport GO:0006811 9.7 ATP1A2 ATP1A3 ATP1B1 CACNA1A SCN1A SCN5A
8 potassium ion import GO:0010107 9.69 ATP1A2 ATP1A3 ATP1B1
9 response to heat GO:0009408 9.68 CALCA TRPV1
10 visual learning GO:0008542 9.67 ATP1A2 ATP1A3
11 regulation of postsynaptic membrane potential GO:0060078 9.67 SCN1A SCN5A
12 ATP metabolic process GO:0046034 9.67 ATP1A2 ATP1B1
13 response to pain GO:0048265 9.67 CACNA1A CALCA TRPV1
14 cellular response to nerve growth factor stimulus GO:1990090 9.66 CALCA TRPV1
15 regulation of heart rate GO:0002027 9.66 CALCA SCN5A
16 adult walking behavior GO:0007628 9.65 CACNA1A SCN1A
17 neuronal action potential GO:0019228 9.65 SCN1A SCN5A
18 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.65 ATP1A2 ATP1A3 ATP1B1
19 membrane depolarization GO:0051899 9.64 CACNA1A SCN5A
20 cellular sodium ion homeostasis GO:0006883 9.63 ATP1A2 ATP1A3 ATP1B1
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1A SCN5A
22 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.62 CALCA TRPV1
23 behavioral response to pain GO:0048266 9.61 CACNA1A TRPV1
24 regulation of cardiac muscle cell contraction GO:0086004 9.61 ATP1A2 SCN5A
25 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.61 ATP1A2 ATP1A3 ATP1B1
26 relaxation of cardiac muscle GO:0055119 9.6 ATP1A2 ATP1B1
27 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.59 ATP1A2 SCN5A
28 cellular response to steroid hormone stimulus GO:0071383 9.58 ATP1A2 ATP1A3
29 membrane repolarization GO:0086009 9.58 ATP1A2 ATP1B1
30 cellular potassium ion homeostasis GO:0030007 9.58 ATP1A2 ATP1A3 ATP1B1
31 potassium ion import across plasma membrane GO:1990573 9.57 ATP1A2 ATP1B1
32 cardiac muscle contraction GO:0060048 9.56 ATP1A2 ATP1A3 ATP1B1 SCN5A
33 response to glycoside GO:1903416 9.55 ATP1A2 ATP1A3
34 ATP hydrolysis coupled transmembrane transport GO:0090662 9.54 ATP1A2 ATP1A3 ATP1B1
35 sodium ion export from cell GO:0036376 9.5 ATP1A2 ATP1A3 ATP1B1
36 sodium ion transport GO:0006814 9.35 ATP1A2 ATP1A3 ATP1B1 SCN1A SCN5A
37 ion transmembrane transport GO:0034220 9.1 ATP1A2 ATP1A3 ATP1B1 SCN1A SCN5A TRPV1
38 transport GO:0006810 10.1 ATP1A2 ATP1A3 ATP1B1 CACNA1A SCN1A SCN5A

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.54 CACNA1A SCN1A SCN5A
2 phosphoprotein binding GO:0051219 9.46 PRKCSH TRPV1
3 sodium channel activity GO:0005272 9.43 SCN1A SCN5A
4 voltage-gated sodium channel activity GO:0005248 9.4 SCN1A SCN5A
5 potassium ion binding GO:0030955 9.32 ATP1A2 ATP1B1
6 sodium ion binding GO:0031402 9.26 ATP1A2 ATP1B1
7 ion channel activity GO:0005216 9.26 CACNA1A SCN1A SCN5A TRPV1
8 steroid hormone binding GO:1990239 9.16 ATP1A2 ATP1A3
9 sodium:potassium-exchanging ATPase activity GO:0005391 8.8 ATP1A2 ATP1A3 ATP1B1

Sources for Familial Hemiplegic Migraine

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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