FHM
MCID: FML023
MIFTS: 51

Familial Hemiplegic Migraine (FHM)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Hemiplegic Migraine

MalaCards integrated aliases for Familial Hemiplegic Migraine:

Name: Familial Hemiplegic Migraine 12 24 53 25 29 6 15 73
Hemiplegic Migraine, Familial 76 53 25
Hemiplegic-Ophthalmoplegic Migraine 53 25
Migraine, Familial Hemiplegic 13
Hemiplegic Migraine Familial 55
Fhm 53

Characteristics:

GeneReviews:

24
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

Summaries for Familial Hemiplegic Migraine

NIH Rare Diseases : 53 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.

MalaCards based summary : Familial Hemiplegic Migraine, also known as hemiplegic migraine, familial, is related to sporadic hemiplegic migraine and migraine with or without aura 1. An important gene associated with Familial Hemiplegic Migraine is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are Cardiac conduction and Aldosterone synthesis and secretion. The drugs Topiramate and Neuroprotective Agents 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)

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 : 76 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 41)
# Related Disease Score Top Affiliating Genes
1 sporadic hemiplegic migraine 32.8 ATP1A2 CACNA1A SCN1A
2 migraine with or without aura 1 31.5 ATP1A2 ATP1A3 CACNA1A CALCA NOTCH3 SCN1A
3 hemiplegic migraine 31.1 ATP1A2 ATP1A3 ATP1B1 CACNA1A CALCA NOTCH3
4 epilepsy 30.4 ATP1A2 ATP1A3 CACNA1A SCN1A
5 alternating hemiplegia of childhood 30.2 ATP1A2 ATP1A3 CACNA1A CALCA
6 headache 30.0 ATP1A2 CACNA1A SCN1A
7 hemiplegia 30.0 ATP1A2 ATP1A3 CACNA1A CALCA SCN1A
8 migraine with aura 29.8 ATP1A2 CACNA1A NOTCH3 SCN1A
9 migraine, familial hemiplegic, 1 12.4
10 migraine, familial hemiplegic, 2 12.4
11 migraine, familial hemiplegic, 3 12.4
12 alternating hemiplegia of childhood 1 11.4
13 migraine with or without aura 6 11.3
14 alternating hemiplegia of childhood 2 11.3
15 depression 10.5
16 encephalopathy 10.4
17 aceruloplasminemia 10.4
18 spinocerebellar ataxia 6 10.2
19 autosomal dominant cerebellar ataxia 10.2
20 episodic ataxia 10.2
21 cluster headache 10.1 CACNA1A CALCA
22 cerebellar disease 10.1 ATP1A3 CACNA1A
23 familial or sporadic hemiplegic migraine 10.0 ATP1A2 CACNA1A SCN1A
24 migraine without aura 10.0 ATP1A2 CACNA1A SCN1A
25 episodic ataxia, type 2 10.0
26 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.0
27 pulmonary hypertension, primary, 1 10.0
28 brain injury 10.0
29 traumatic brain injury 10.0
30 status epilepticus 10.0
31 erdheim-chester disease 10.0
32 retinal degeneration 10.0
33 hemicrania continua 10.0
34 lipogranulomatosis 10.0
35 febrile seizures 10.0
36 bone resorption disease 9.9 CALCA TRPV1
37 nervous system disease 9.9 CACNA1A SCN1A TRPV1
38 thyrotoxic periodic paralysis 9.9 ATP1A2 ATP1B1
39 polycystic kidney disease 2 with or without polycystic liver disease 9.9 PRKCSH TRPV1
40 bone remodeling disease 9.9 CALCA TRPV1
41 neuroma 9.8 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:

26 (show all 15)
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.95 ATP1A2 ATP1A3 CACNA1A NOTCH3 SCN1A SCN5A
2 mortality/aging MP:0010768 9.92 ATP1A2 ATP1A3 ATP1B1 CACNA1A NOTCH3 PRKCSH
3 cardiovascular system MP:0005385 9.85 ATP1A2 ATP1B1 NOTCH3 SCN1A SCN5A TRPV1
4 muscle MP:0005369 9.73 ATP1A2 ATP1A3 ATP1B1 CACNA1A NOTCH3 SCN5A
5 nervous system MP:0003631 9.7 ATP1A2 ATP1A3 CACNA1A NOTCH3 SCN1A SCN5A
6 normal MP:0002873 9.43 ATP1A2 ATP1B1 CACNA1A NOTCH3 SCN1A SCN5A
7 respiratory system MP:0005388 9.1 ATP1A2 ATP1A3 ATP1B1 CACNA1A NOTCH3 SCN1A

Drugs & Therapeutics for Familial Hemiplegic Migraine

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 2 97240-79-4 5284627
2 Neuroprotective Agents Phase 2
3 Anticonvulsants Phase 2
4 Anti-Obesity Agents Phase 2
5 Protective Agents Phase 2
6
Nitroglycerin Approved, Investigational Not Applicable 55-63-0 4510
7
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
8
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
9 Vasodilator Agents Not Applicable
10 Bone Density Conservation Agents Not Applicable
11 calcitonin Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Continuous Treatment Study of Topiramate in Migraine Participants Completed NCT01799590 Phase 2 Topiramate
2 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Completed NCT00541736 Not Applicable Nitroglycerine
3 Calcitonin Gene Related Peptide-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2. Completed NCT00358839 Not Applicable CGRP
4 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2 Completed NCT00257985 Not Applicable GTN
5 Calcitonin Gene-related Peptide in Familial Hemiplegic Migraine (FHM) and Migraine With Aura (MA) Completed NCT00687947 Not Applicable 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 29

Anatomical Context for Familial Hemiplegic Migraine

MalaCards organs/tissues related to Familial Hemiplegic Migraine:

41
Brain, Bone, Trigeminal Ganglion, Kidney, Testes, Smooth Muscle, Cerebellum

Publications for Familial Hemiplegic Migraine

Articles related to Familial Hemiplegic Migraine:

(show top 50) (show all 244)
# Title Authors Year
1
Smooth muscle Ca<sup>2+</sup> sensitization causes hypercontractility of middle cerebral arteries in mice bearing the familial hemiplegic migraine type 2 associated mutation. ( 29513112 )
2018
2
Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA. ( 29986598 )
2018
3
Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine. ( 30038559 )
2018
4
Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2. ( 30097147 )
2018
5
Ultrastructural changes in microvessels in familial hemiplegic migraine with CACNA1A mutation. ( 30148448 )
2018
6
Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report. ( 30498473 )
2018
7
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment. ( 28856914 )
2017
8
Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation: A Case Series. ( 28445178 )
2017
9
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
10
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. ( 28900389 )
2017
11
Hyperpolarization-activated current Ih in mouse trigeminal sensory neurons in a transgenic mouse model of familial hemiplegic migraine type-1. ( 28363781 )
2017
12
Mild Traumatic Brain Injury in a High School Football Player with Familial Hemiplegic Migraine: A Case Report. ( 28918117 )
2017
13
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
14
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. ( 28169007 )
2017
15
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. ( 26763045 )
2016
16
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. ( 26911348 )
2016
17
A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. ( 27919014 )
2016
18
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
19
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1. ( 27314908 )
2016
20
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
21
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. ( 27354390 )
2016
22
Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation. ( 27818813 )
2016
23
Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide. ( 27538634 )
2016
24
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
25
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. ( 25411546 )
2015
26
Cortical spreading depression and familial hemiplegic migraine 2015. ( 28132368 )
2015
27
Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis: A Case Report. ( 26087244 )
2015
28
Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura. ( 25948653 )
2015
29
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. ( 26032020 )
2015
30
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
31
Familial hemiplegic migraine type 1 associated with parkinsonism: a case report. ( 25969684 )
2015
32
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
33
Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 25447936 )
2015
34
Pharmacological Correction of Gating Defects in the Voltage-Gated Cav2.1 Ca(2+) Channel due to a Familial Hemiplegic Migraine Mutation. ( 24411734 )
2014
35
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. ( 23918834 )
2014
36
Familial hemiplegic migraine: A model for the genetic studies of migraine. ( 24707017 )
2014
37
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. ( 25274239 )
2014
38
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. ( 24898624 )
2014
39
Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. ( 24646837 )
2014
40
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
41
Biochemical characterization of sporadic/familial hemiplegic migraine mutations. ( 24704353 )
2014
42
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
43
Familial hemiplegic migraine and spreading depression. ( 25143767 )
2014
44
Two novel SCN1A mutations identified in families with familial hemiplegic migraine. ( 24707016 )
2014
45
Familial hemiplegic migraine treated by sodium valproate and lamotrigine. ( 24443394 )
2014
46
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. ( 23985897 )
2014
47
Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy. ( 24136331 )
2014
48
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1. ( 24583041 )
2014
49
Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models. ( 28509957 )
2014
50
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels. ( 23430985 )
2013

Variations for Familial Hemiplegic Migraine

ClinVar genetic disease variations for Familial Hemiplegic Migraine:

6 (show top 50) (show all 461)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh37 Chromosome 1, 160109525: 160109525
2 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh38 Chromosome 1, 160139735: 160139735
3 ATP1A2 NM_000702.3(ATP1A2): c.1244C> T (p.Thr415Met) single nucleotide variant Uncertain significance rs121918618 GRCh37 Chromosome 1, 160098797: 160098797
4 ATP1A2 NM_000702.3(ATP1A2): c.1244C> T (p.Thr415Met) single nucleotide variant Uncertain significance rs121918618 GRCh38 Chromosome 1, 160129007: 160129007
5 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh37 Chromosome 2, 166903445: 166903445
6 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh38 Chromosome 2, 166046935: 166046935
7 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh37 Chromosome 2, 166897864: 166897864
8 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh38 Chromosome 2, 166041354: 166041354
9 SCN1A NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr) single nucleotide variant Benign rs2298771 GRCh37 Chromosome 2, 166892788: 166892788
10 SCN1A NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr) single nucleotide variant Benign rs2298771 GRCh38 Chromosome 2, 166036278: 166036278
11 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh37 Chromosome 2, 166868775: 166868775
12 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh38 Chromosome 2, 166012265: 166012265
13 SCN1A NM_006920.4(SCN1A): c.5749C> G (p.Arg1917Gly) single nucleotide variant Benign/Likely benign rs121917956 GRCh37 Chromosome 2, 166848003: 166848003
14 SCN1A NM_006920.4(SCN1A): c.5749C> G (p.Arg1917Gly) single nucleotide variant Benign/Likely benign rs121917956 GRCh38 Chromosome 2, 165991493: 165991493
15 SCN1A NM_006920.5(SCN1A): c.1811G> A (p.Arg604His) single nucleotide variant Benign/Likely benign rs121918769 GRCh37 Chromosome 2, 166900411: 166900411
16 SCN1A NM_006920.5(SCN1A): c.1811G> A (p.Arg604His) single nucleotide variant Benign/Likely benign rs121918769 GRCh38 Chromosome 2, 166043901: 166043901
17 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh37 Chromosome 2, 166872146: 166872146
18 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh38 Chromosome 2, 166015636: 166015636
19 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh37 Chromosome 1, 160106360: 160106360
20 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh38 Chromosome 1, 160136570: 160136570
21 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 NCBI36 Chromosome 1, 158372984: 158372984
22 SCN1A NM_001165963.1(SCN1A): c.1131A> C (p.Arg377=) single nucleotide variant Conflicting interpretations of pathogenicity rs114137271 GRCh37 Chromosome 2, 166904176: 166904176
23 SCN1A NM_001165963.1(SCN1A): c.1131A> C (p.Arg377=) single nucleotide variant Conflicting interpretations of pathogenicity rs114137271 GRCh38 Chromosome 2, 166047666: 166047666
24 SCN1A NM_001165963.1(SCN1A): c.1171-10_1171-9delTT deletion Benign/Likely benign rs372840031 GRCh37 Chromosome 2, 166903495: 166903496
25 SCN1A NM_001165963.1(SCN1A): c.1171-10_1171-9delTT deletion Benign/Likely benign rs372840031 GRCh38 Chromosome 2, 166046985: 166046986
26 SCN1A NM_001165963.1(SCN1A): c.1662+9C> A single nucleotide variant Benign/Likely benign rs7559148 GRCh37 Chromosome 2, 166901544: 166901544
27 SCN1A NM_001165963.1(SCN1A): c.1662+9C> A single nucleotide variant Benign/Likely benign rs7559148 GRCh38 Chromosome 2, 166045034: 166045034
28 SCN1A NM_001165963.1(SCN1A): c.2889T> C (p.Ala963=) single nucleotide variant Benign/Likely benign rs144679294 GRCh37 Chromosome 2, 166894343: 166894343
29 SCN1A NM_001165963.1(SCN1A): c.2889T> C (p.Ala963=) single nucleotide variant Benign/Likely benign rs144679294 GRCh38 Chromosome 2, 166037833: 166037833
30 SCN1A NM_001165963.1(SCN1A): c.345T> C (p.Asn115=) single nucleotide variant Benign/Likely benign rs61741123 GRCh37 Chromosome 2, 166915118: 166915118
31 SCN1A NM_001165963.1(SCN1A): c.345T> C (p.Asn115=) single nucleotide variant Benign/Likely benign rs61741123 GRCh38 Chromosome 2, 166058608: 166058608
32 SCN1A NM_001165963.1(SCN1A): c.4731T> C (p.Asn1577=) single nucleotide variant Conflicting interpretations of pathogenicity rs145296488 GRCh37 Chromosome 2, 166850777: 166850777
33 SCN1A NM_001165963.1(SCN1A): c.4731T> C (p.Asn1577=) single nucleotide variant Conflicting interpretations of pathogenicity rs145296488 GRCh38 Chromosome 2, 165994267: 165994267
34 SCN1A NM_001165963.1(SCN1A): c.5418G> A (p.Glu1806=) single nucleotide variant Benign/Likely benign rs140237315 GRCh37 Chromosome 2, 166848367: 166848367
35 SCN1A NM_001165963.1(SCN1A): c.5418G> A (p.Glu1806=) single nucleotide variant Benign/Likely benign rs140237315 GRCh38 Chromosome 2, 165991857: 165991857
36 SCN1A NM_001165963.1(SCN1A): c.5864T> C (p.Ile1955Thr) single nucleotide variant Benign/Likely benign rs35735053 GRCh37 Chromosome 2, 166847921: 166847921
37 SCN1A NM_001165963.1(SCN1A): c.5864T> C (p.Ile1955Thr) single nucleotide variant Benign/Likely benign rs35735053 GRCh38 Chromosome 2, 165991411: 165991411
38 ATP1A2 NM_000702.3(ATP1A2): c.1119G> A (p.Ser373=) single nucleotide variant Benign rs1063125 GRCh37 Chromosome 1, 160098543: 160098543
39 ATP1A2 NM_000702.3(ATP1A2): c.1119G> A (p.Ser373=) single nucleotide variant Benign rs1063125 GRCh38 Chromosome 1, 160128753: 160128753
40 ATP1A2 NM_000702.3(ATP1A2): c.129G> A (p.Lys43=) single nucleotide variant Benign rs61734527 GRCh37 Chromosome 1, 160090993: 160090993
41 ATP1A2 NM_000702.3(ATP1A2): c.129G> A (p.Lys43=) single nucleotide variant Benign rs61734527 GRCh38 Chromosome 1, 160121203: 160121203
42 ATP1A2 NM_000702.3(ATP1A2): c.1704C> T (p.Phe568=) single nucleotide variant Benign/Likely benign rs17846714 GRCh37 Chromosome 1, 160100264: 160100264
43 ATP1A2 NM_000702.3(ATP1A2): c.1704C> T (p.Phe568=) single nucleotide variant Benign/Likely benign rs17846714 GRCh38 Chromosome 1, 160130474: 160130474
44 ATP1A2 NM_000702.3(ATP1A2): c.1980C> T (p.Cys660=) single nucleotide variant Benign/Likely benign rs61734529 GRCh37 Chromosome 1, 160104950: 160104950
45 ATP1A2 NM_000702.3(ATP1A2): c.1980C> T (p.Cys660=) single nucleotide variant Benign/Likely benign rs61734529 GRCh38 Chromosome 1, 160135160: 160135160
46 ATP1A2 NM_000702.3(ATP1A2): c.2259C> T (p.Ala753=) single nucleotide variant Benign/Likely benign rs17846715 GRCh37 Chromosome 1, 160105367: 160105367
47 ATP1A2 NM_000702.3(ATP1A2): c.2259C> T (p.Ala753=) single nucleotide variant Benign/Likely benign rs17846715 GRCh38 Chromosome 1, 160135577: 160135577
48 ATP1A2 NM_000702.3(ATP1A2): c.2563+4C> T single nucleotide variant Benign/Likely benign rs3747626 GRCh37 Chromosome 1, 160106164: 160106164
49 ATP1A2 NM_000702.3(ATP1A2): c.2563+4C> T single nucleotide variant Benign/Likely benign rs3747626 GRCh38 Chromosome 1, 160136374: 160136374
50 ATP1A2 NM_000702.3(ATP1A2): c.2961C> T (p.Cys987=) single nucleotide variant Benign/Likely benign rs74123254 GRCh37 Chromosome 1, 160109701: 160109701

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 ATP1A2 ATP1A3 ATP1B1 SCN1A SCN5A
2
Show member pathways
12.52 ATP1A2 ATP1A3 ATP1B1 SCN5A
3 12.35 CALCA NOTCH3 SCN1A SCN5A
4
Show member pathways
12.29 ATP1A2 ATP1A3 ATP1B1 TRPV1
5
Show member pathways
12.25 ATP1B1 CACNA1A CALCA
6
Show member pathways
12.14 ATP1A2 ATP1A3 ATP1B1 SCN1A SCN5A
7
Show member pathways
12.05 ATP1A2 ATP1A3 ATP1B1
8
Show member pathways
11.95 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
14 11.22 ATP1A2 ATP1A3 ATP1B1
15 11.14 ATP1A2 ATP1A3 ATP1B1
16 11.05 SCN1A SCN5A
17 11 ATP1A2 ATP1A3 ATP1B1
18 10.99 ATP1A2 ATP1A3 ATP1B1 NOTCH3
19 10.49 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)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.73 ATP1A3 CALCA SCN1A SCN5A
2 sarcolemma GO:0042383 9.58 ATP1A2 ATP1B1 SCN5A
3 neuronal cell body GO:0043025 9.55 ATP1A3 CACNA1A CALCA SCN1A TRPV1
4 caveola GO:0005901 9.54 ATP1A2 ATP1B1 SCN5A
5 extracellular vesicle GO:1903561 9.5 ATP1A2 ATP1A3 ATP1B1
6 voltage-gated sodium channel complex GO:0001518 9.46 SCN1A SCN5A
7 T-tubule GO:0030315 9.43 ATP1A2 SCN1A SCN5A
8 sodium:potassium-exchanging ATPase complex GO:0005890 9.13 ATP1A2 ATP1A3 ATP1B1
9 intercalated disc GO:0014704 8.92 ATP1A2 ATP1B1 SCN1A SCN5A
10 integral component of membrane GO:0016021 10.1 ATP1A2 ATP1A3 ATP1B1 CACNA1A NOTCH3 SCN1A
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 34)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 CACNA1A SCN1A SCN5A TRPV1
2 ion transmembrane transport GO:0034220 9.83 CACNA1A SCN1A SCN5A TRPV1
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.8 CACNA1A CALCA TRPV1
4 regulation of ion transmembrane transport GO:0034765 9.79 CACNA1A SCN1A SCN5A
5 potassium ion transport GO:0006813 9.79 ATP1A2 ATP1A3 ATP1B1
6 cardiac muscle contraction GO:0060048 9.67 ATP1A2 ATP1B1 SCN5A
7 response to heat GO:0009408 9.66 CALCA TRPV1
8 ATP metabolic process GO:0046034 9.66 ATP1A2 ATP1B1
9 cellular response to nerve growth factor stimulus GO:1990090 9.65 CALCA TRPV1
10 adult walking behavior GO:0007628 9.65 CACNA1A SCN1A
11 cellular response to amyloid-beta GO:1904646 9.65 ATP1A3 CACNA1A
12 potassium ion import across plasma membrane GO:1990573 9.65 ATP1A2 ATP1A3 ATP1B1
13 ATP hydrolysis coupled proton transport GO:0015991 9.64 ATP1A2 ATP1A3
14 neuronal action potential GO:0019228 9.64 SCN1A SCN5A
15 membrane depolarization GO:0051899 9.63 CACNA1A SCN5A
16 potassium ion import GO:0010107 9.63 ATP1A2 ATP1A3 ATP1B1
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1A SCN5A
18 response to pain GO:0048265 9.61 CACNA1A CALCA TRPV1
19 membrane depolarization during action potential GO:0086010 9.6 SCN1A SCN5A
20 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.59 CALCA TRPV1
21 cellular response to steroid hormone stimulus GO:0071383 9.58 ATP1A2 ATP1A3
22 regulation of cardiac muscle cell contraction GO:0086004 9.58 ATP1A2 SCN5A
23 cellular sodium ion homeostasis GO:0006883 9.58 ATP1A2 ATP1A3 ATP1B1
24 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.57 ATP1A2 SCN5A
25 relaxation of cardiac muscle GO:0055119 9.56 ATP1A2 ATP1B1
26 behavioral response to pain GO:0048266 9.55 CACNA1A TRPV1
27 membrane repolarization GO:0086009 9.54 ATP1A2 ATP1B1
28 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.54 ATP1A2 ATP1A3 ATP1B1
29 response to glycoside GO:1903416 9.51 ATP1A2 ATP1A3
30 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.5 ATP1A2 ATP1A3 ATP1B1
31 cellular potassium ion homeostasis GO:0030007 9.43 ATP1A2 ATP1A3 ATP1B1
32 sodium ion transport GO:0006814 9.35 ATP1A2 ATP1A3 ATP1B1 SCN1A SCN5A
33 sodium ion export across plasma membrane GO:0036376 9.33 ATP1A2 ATP1A3 ATP1B1
34 ion transport GO:0006811 9.17 ATP1A2 ATP1A3 ATP1B1 CACNA1A SCN1A SCN5A

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 9.54 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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