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 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 headache. An important gene associated with Familial Hemiplegic Migraine is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Aldosterone synthesis and secretion. The drugs Topiramate and Anticonvulsants 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 : 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.

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 : 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 47)
# Related Disease Score Top Affiliating Genes
1 sporadic hemiplegic migraine 32.7 ATP1A2 CACNA1A SCN1A
2 headache 29.9 ATP1A2 CACNA1A SCN1A
3 alternating hemiplegia of childhood 29.6 ATP1A2 ATP1A3 CACNA1A CALCA
4 migraine with aura 29.2 ATP1A2 CACNA1A NOTCH3 SCN1A
5 hemiplegia 29.0 ATP1A2 ATP1A3 CACNA1A CALCA SCN1A
6 migraine with or without aura 1 28.8 ATP1A2 ATP1A3 CACNA1A CALCA NOTCH3 SCN1A
7 hemiplegic migraine 27.1 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 12.0
11 alternating hemiplegia of childhood 1 11.3
12 alternating hemiplegia of childhood 2 11.1
13 neuronitis 10.4
14 depression 10.4
15 quadriplegia 10.3 ATP1A2 ATP1A3
16 cluster headache 10.3 CACNA1A CALCA
17 epilepsy 10.3
18 cerebritis 10.3
19 encephalopathy 10.3
20 aceruloplasminemia 10.2
21 ataxia-oculomotor apraxia 3 10.2
22 cerebellar disease 10.2 ATP1A3 CACNA1A
23 familial or sporadic hemiplegic migraine 10.2 ATP1A2 CACNA1A SCN1A
24 spinocerebellar ataxia 6 10.1
25 autosomal dominant cerebellar ataxia 10.1
26 migraine without aura 10.1 ATP1A2 CACNA1A SCN1A
27 episodic ataxia 10.0
28 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9
29 pulmonary hypertension, primary, 1 9.9
30 aging 9.9
31 brain injury 9.9
32 traumatic brain injury 9.9
33 status epilepticus 9.9
34 retinitis 9.9
35 erdheim-chester disease 9.9
36 retinal degeneration 9.9
37 meningitis 9.9
38 hemicrania continua 9.9
39 lipogranulomatosis 9.9
40 febrile seizures 9.9
41 bone resorption disease 9.8 CALCA TRPV1
42 nervous system disease 9.8 CACNA1A SCN1A TRPV1
43 polycystic kidney disease 2 with or without polycystic liver disease 9.7 PRKCSH TRPV1
44 bone remodeling disease 9.7 CALCA TRPV1
45 trehalase deficiency 9.6 ATP1A2 ATP1A3 CACNA1A SCN1A
46 neuroma 9.5 CALCA TRPV1
47 central nervous system disease 9.3 CACNA1A NOTCH3 SCN1A 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 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.03 NOTCH3 PRKCSH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.03 SCN5A GNAI2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.03 PRKCSH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.03 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.03 GNAI2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.03 SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.03 NOTCH3 SCN5A GNAI2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.03 SCN5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.03 NOTCH3 GNAI2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.03 NOTCH3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.03 SCN1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.03 SCN1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.03 SCN1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.03 SCN5A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.03 SCN5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.03 NOTCH3 SCN5A SCN1A GNAI2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.03 SCN5A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.03 SCN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.03 PRKCSH
20 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.03 SCN5A NOTCH3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.03 SCN5A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.03 NOTCH3 GNAI2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.03 SCN1A
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.03 SCN1A NOTCH3 PRKCSH

MGI Mouse Phenotypes related to Familial Hemiplegic Migraine:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 NOTCH3 ATP1A2 SCN1A ATP1A3 SCN5A CACNA1A
2 mortality/aging MP:0010768 9.92 GNAI2 NOTCH3 PRKCSH ATP1A2 SCN1A ATP1A3
3 cardiovascular system MP:0005385 9.85 GNAI2 NOTCH3 ATP1A2 SCN1A SCN5A TRPV1
4 nervous system MP:0003631 9.76 GNAI2 NOTCH3 ATP1A2 SCN1A ATP1A3 SCN5A
5 muscle MP:0005369 9.65 NOTCH3 ATP1A2 ATP1A3 SCN5A CACNA1A
6 normal MP:0002873 9.43 GNAI2 NOTCH3 ATP1A2 SCN1A SCN5A CACNA1A
7 respiratory system MP:0005388 9.1 GNAI2 NOTCH3 ATP1A2 SCN1A ATP1A3 CACNA1A

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 Anticonvulsants Phase 2
3 Anti-Obesity Agents Phase 2
4 Neuroprotective 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, Thalamus, Testes, Smooth Muscle, Cerebellum

Publications for Familial Hemiplegic Migraine

Articles related to Familial Hemiplegic Migraine:

(show top 50) (show all 236)
# 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
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment. ( 28856914 )
2017
3
Familial Hemiplegic Migraine With Asymmetric Encephalopathy Secondary to ATP1A2 Mutation: A Case Series. ( 28445178 )
2017
4
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
5
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. ( 28900389 )
2017
6
Hyperpolarization-activated current Ih in mouse trigeminal sensory neurons in a transgenic mouse model of familial hemiplegic migraine type-1. ( 28363781 )
2017
7
Mild Traumatic Brain Injury in a High School Football Player with Familial Hemiplegic Migraine: A Case Report. ( 28918117 )
2017
8
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
9
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. ( 28169007 )
2017
10
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. ( 26763045 )
2016
11
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. ( 26911348 )
2016
12
A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. ( 27919014 )
2016
13
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
14
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1. ( 27314908 )
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
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. ( 27354390 )
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
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
20
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. ( 25411546 )
2015
21
Cortical spreading depression and familial hemiplegic migraine 2015. ( 28132368 )
2015
22
Familial Hemiplegic Migraine and Recurrent Episodes of Psychosis: A Case Report. ( 26087244 )
2015
23
Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura. ( 25948653 )
2015
24
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. ( 26032020 )
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 type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice. ( 25481823 )
2015
28
Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 25447936 )
2015
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
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. ( 23918834 )
2014
31
Familial hemiplegic migraine: A model for the genetic studies of migraine. ( 24707017 )
2014
32
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. ( 25274239 )
2014
33
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. ( 24898624 )
2014
34
Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. ( 24646837 )
2014
35
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
36
Biochemical characterization of sporadic/familial hemiplegic migraine mutations. ( 24704353 )
2014
37
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
38
Familial hemiplegic migraine and spreading depression. ( 25143767 )
2014
39
Two novel SCN1A mutations identified in families with familial hemiplegic migraine. ( 24707016 )
2014
40
Familial hemiplegic migraine treated by sodium valproate and lamotrigine. ( 24443394 )
2014
41
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1. ( 24583041 )
2014
42
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels. ( 23430985 )
2013
43
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. ( 24096472 )
2013
44
Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions. ( 23954377 )
2013
45
Acute encephalopathy in familial hemiplegic migraine with ATP1A2 mutation. ( 23761507 )
2013
46
Differential trigeminovascular nociceptive responses in the thalamus in the familial hemiplegic migraine 1 knock-in mouse: A Fos protein study. ( 24355314 )
2013
47
Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models. ( 23561701 )
2013
48
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
49
Monozygotic twin sisters discordant for familial hemiplegic migraine. ( 24041236 )
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
(show top 50) (show all 363)
# 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.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh37 Chromosome 1, 160106360: 160106360
4 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh38 Chromosome 1, 160136570: 160136570
5 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 NCBI36 Chromosome 1, 158372984: 158372984
6 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh37 Chromosome 1, 160090685: 160090688
7 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh38 Chromosome 1, 160120895: 160120898
8 SCN1A NM_001165963.1(SCN1A): c.1889G> A (p.Arg630Gln) single nucleotide variant Uncertain significance rs145670933 GRCh37 Chromosome 2, 166900333: 166900333
9 SCN1A NM_001165963.1(SCN1A): c.1889G> A (p.Arg630Gln) single nucleotide variant Uncertain significance rs145670933 GRCh38 Chromosome 2, 166043823: 166043823
10 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh37 Chromosome 1, 160100226: 160100226
11 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh38 Chromosome 1, 160130436: 160130436
12 SCN1A NM_001165963.1(SCN1A): c.2421C> T (p.Phe807=) single nucleotide variant Benign/Likely benign rs145101180 GRCh37 Chromosome 2, 166896101: 166896101
13 SCN1A NM_001165963.1(SCN1A): c.2421C> T (p.Phe807=) single nucleotide variant Benign/Likely benign rs145101180 GRCh38 Chromosome 2, 166039591: 166039591
14 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh37 Chromosome 1, 160106732: 160106732
15 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh38 Chromosome 1, 160136942: 160136942
16 SCN1A NM_001165963.1(SCN1A): c.4945C> T (p.Leu1649=) single nucleotide variant Benign/Likely benign rs148546224 GRCh37 Chromosome 2, 166848840: 166848840
17 SCN1A NM_001165963.1(SCN1A): c.4945C> T (p.Leu1649=) single nucleotide variant Benign/Likely benign rs148546224 GRCh38 Chromosome 2, 165992330: 165992330
18 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh37 Chromosome 1, 160093019: 160093019
19 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh38 Chromosome 1, 160123229: 160123229
20 ATP1A2 NM_000702.3(ATP1A2): c.836G> A (p.Arg279Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs373178892 GRCh37 Chromosome 1, 160097429: 160097429
21 ATP1A2 NM_000702.3(ATP1A2): c.836G> A (p.Arg279Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs373178892 GRCh38 Chromosome 1, 160127639: 160127639
22 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh37 Chromosome 1, 160090708: 160090708
23 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh38 Chromosome 1, 160120918: 160120918
24 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh37 Chromosome 1, 160093071: 160093071
25 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh38 Chromosome 1, 160123281: 160123281
26 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh37 Chromosome 1, 160098516: 160098516
27 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh38 Chromosome 1, 160128726: 160128726
28 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh37 Chromosome 1, 160099904: 160099904
29 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh38 Chromosome 1, 160130114: 160130114
30 ATP1A2 NM_000702.3(ATP1A2): c.1691G> A (p.Arg564Gln) single nucleotide variant Uncertain significance rs765936799 GRCh37 Chromosome 1, 160100251: 160100251
31 ATP1A2 NM_000702.3(ATP1A2): c.1691G> A (p.Arg564Gln) single nucleotide variant Uncertain significance rs765936799 GRCh38 Chromosome 1, 160130461: 160130461
32 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh37 Chromosome 1, 160100381: 160100381
33 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh38 Chromosome 1, 160130591: 160130591
34 ATP1A2 NM_000702.3(ATP1A2): c.2374A> G (p.Ile792Val) single nucleotide variant Uncertain significance rs758749177 GRCh37 Chromosome 1, 160105718: 160105718
35 ATP1A2 NM_000702.3(ATP1A2): c.2374A> G (p.Ile792Val) single nucleotide variant Uncertain significance rs758749177 GRCh38 Chromosome 1, 160135928: 160135928
36 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh37 Chromosome 1, 160109466: 160109466
37 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh38 Chromosome 1, 160139676: 160139676
38 ATP1A2 NM_000702.3(ATP1A2): c.2967C> T (p.Phe989=) single nucleotide variant Benign rs138826759 GRCh37 Chromosome 1, 160109707: 160109707
39 ATP1A2 NM_000702.3(ATP1A2): c.2967C> T (p.Phe989=) single nucleotide variant Benign rs138826759 GRCh38 Chromosome 1, 160139917: 160139917
40 SCN1A NM_001165963.1(SCN1A): c.1882T> A (p.Ser628Thr) single nucleotide variant Uncertain significance rs752639991 GRCh37 Chromosome 2, 166900340: 166900340
41 SCN1A NM_001165963.1(SCN1A): c.1882T> A (p.Ser628Thr) single nucleotide variant Uncertain significance rs752639991 GRCh38 Chromosome 2, 166043830: 166043830
42 SCN1A NM_001165963.1(SCN1A): c.1000C> G (p.Leu334Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201870762 GRCh37 Chromosome 2, 166905424: 166905424
43 SCN1A NM_001165963.1(SCN1A): c.1000C> G (p.Leu334Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201870762 GRCh38 Chromosome 2, 166048914: 166048914
44 SCN1A NM_001165963.1(SCN1A): c.1410C> T (p.Ser470=) single nucleotide variant Conflicting interpretations of pathogenicity rs142571794 GRCh37 Chromosome 2, 166901805: 166901805
45 SCN1A NM_001165963.1(SCN1A): c.1410C> T (p.Ser470=) single nucleotide variant Conflicting interpretations of pathogenicity rs142571794 GRCh38 Chromosome 2, 166045295: 166045295
46 ATP1A2 NM_000702.3(ATP1A2): c.335C> A (p.Ala112Asp) single nucleotide variant Uncertain significance rs878854140 GRCh37 Chromosome 1, 160093160: 160093160
47 ATP1A2 NM_000702.3(ATP1A2): c.335C> A (p.Ala112Asp) single nucleotide variant Uncertain significance rs878854140 GRCh38 Chromosome 1, 160123370: 160123370
48 ATP1A2 NM_000702.3(ATP1A2): c.2636G> A (p.Arg879Gln) single nucleotide variant Uncertain significance rs761597771 GRCh38 Chromosome 1, 160136642: 160136642
49 ATP1A2 NM_000702.3(ATP1A2): c.2636G> A (p.Arg879Gln) single nucleotide variant Uncertain significance rs761597771 GRCh37 Chromosome 1, 160106432: 160106432
50 ATP1A2 NM_000702.3(ATP1A2): c.1652-11C> G single nucleotide variant Likely benign rs17846713 GRCh37 Chromosome 1, 160100201: 160100201

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 CACNA1A GNAI2 SCN1A SCN5A
2
Show member pathways
12.64 ATP1A2 ATP1A3 GNAI2 SCN5A
3
Show member pathways
12.4 ATP1A2 ATP1A3 SCN1A SCN5A
4
Show member pathways
12.23 ATP1A2 ATP1A3 TRPV1
5
Show member pathways
12.21 CACNA1A CALCA GNAI2
6
Show member pathways
11.88 ATP1A2 ATP1A3 GNAI2
7
Show member pathways
11.85 ATP1A2 ATP1A3 SCN1A SCN5A
8
Show member pathways
11.65 ATP1A2 ATP1A3 GNAI2
9 11.46 CALCA NOTCH3 SCN1A SCN5A
10 11.4 ATP1A2 ATP1A3 NOTCH3
11 11.24 ATP1A2 ATP1A3
12 11.2 ATP1A2 ATP1A3
13 11.14 ATP1A2 ATP1A3
14 11.02 ATP1A2 ATP1A3
15 10.91 SCN1A SCN5A
16 10.68 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 9.71 ATP1A2 ATP1A3 CACNA1A TRPV1
2 extracellular vesicle GO:1903561 9.43 ATP1A2 ATP1A3 GNAI2
3 voltage-gated sodium channel complex GO:0001518 9.37 SCN1A SCN5A
4 intercalated disc GO:0014704 9.33 ATP1A2 SCN1A SCN5A
5 sodium:potassium-exchanging ATPase complex GO:0005890 9.32 ATP1A2 ATP1A3
6 T-tubule GO:0030315 9.13 ATP1A2 SCN1A SCN5A
7 neuronal cell body GO:0043025 9.02 ATP1A3 CACNA1A CALCA SCN1A TRPV1
8 plasma membrane GO:0005886 10.03 ATP1A2 ATP1A3 CACNA1A GNAI2 NOTCH3 SCN1A

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 CACNA1A SCN1A SCN5A TRPV1
2 regulation of ion transmembrane transport GO:0034765 9.76 CACNA1A SCN1A SCN5A
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.75 CACNA1A CALCA TRPV1
4 response to heat GO:0009408 9.65 CALCA TRPV1
5 cardiac muscle contraction GO:0060048 9.65 ATP1A2 SCN5A
6 cellular response to nerve growth factor stimulus GO:1990090 9.64 CALCA TRPV1
7 potassium ion import GO:0010107 9.64 ATP1A2 ATP1A3
8 regulation of heart rate GO:0002027 9.63 CALCA SCN5A
9 ion transport GO:0006811 9.63 ATP1A2 ATP1A3 CACNA1A SCN1A SCN5A TRPV1
10 adult walking behavior GO:0007628 9.62 CACNA1A SCN1A
11 ATP hydrolysis coupled proton transport GO:0015991 9.62 ATP1A2 ATP1A3
12 neuronal action potential GO:0019228 9.61 SCN1A SCN5A
13 cellular response to amyloid-beta GO:1904646 9.61 ATP1A3 CACNA1A
14 gamma-aminobutyric acid signaling pathway GO:0007214 9.6 CACNA1A GNAI2
15 membrane depolarization GO:0051899 9.59 CACNA1A SCN5A
16 cellular sodium ion homeostasis GO:0006883 9.57 ATP1A2 ATP1A3
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.56 SCN1A SCN5A
18 sodium ion transport GO:0006814 9.56 ATP1A2 ATP1A3 SCN1A SCN5A
19 cellular potassium ion homeostasis GO:0030007 9.55 ATP1A2 ATP1A3
20 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.54 CALCA TRPV1
21 sodium ion export across plasma membrane GO:0036376 9.52 ATP1A2 ATP1A3
22 cellular response to steroid hormone stimulus GO:0071383 9.51 ATP1A2 ATP1A3
23 membrane depolarization during action potential GO:0086010 9.5 CACNA1A SCN1A SCN5A
24 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.49 ATP1A2 ATP1A3
25 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 ATP1A2 ATP1A3
26 regulation of cardiac muscle cell contraction GO:0086004 9.46 ATP1A2 SCN5A
27 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.43 ATP1A2 SCN5A
28 behavioral response to pain GO:0048266 9.4 CACNA1A TRPV1
29 response to glycoside GO:1903416 9.37 ATP1A2 ATP1A3
30 response to pain GO:0048265 9.13 CACNA1A CALCA TRPV1
31 ion transmembrane transport GO:0034220 9.1 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 9.5 CACNA1A SCN1A SCN5A
2 phosphoprotein binding GO:0051219 9.43 PRKCSH TRPV1
3 sodium channel activity GO:0005272 9.4 SCN1A SCN5A
4 voltage-gated sodium channel activity GO:0005248 9.37 SCN1A SCN5A
5 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP1A2 ATP1A3
6 ion channel activity GO:0005216 9.26 CACNA1A SCN1A SCN5A TRPV1
7 steroid hormone binding GO:1990239 9.16 ATP1A2 ATP1A3
8 cation channel activity GO:0005261 8.92 CACNA1A SCN1A SCN5A TRPV1

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
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51 NDF-RT
54 NINDS
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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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