FHM2
MCID: MGR030
MIFTS: 49

Migraine, Familial Hemiplegic, 2 (FHM2)

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

Aliases & Classifications for Migraine, Familial Hemiplegic, 2

MalaCards integrated aliases for Migraine, Familial Hemiplegic, 2:

Name: Migraine, Familial Hemiplegic, 2 56 73 71
Migraine, Familial Basilar 56 13 6
Fhm2 56 12 73
Mhp2 56 12 73
Familial Hemiplegic Migraine Type 2 29 6
Familial Hemiplegic Migraine 2 12 15
Migraine, Hemiplegic, Familial, Type 2 39
Familial Hemiplegic Migraine-2 12
Familiar Basilar Migraine 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset 6 to 30 years
highly variable frequency and duration of episodes
headaches last hours to days
neurologic signs last hours to days
episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
reduced penetrance (approximately 87%)
genetic heterogeneity (see fhm1 )
alternating hemiplegia of childhood is an allelic disorder with an overlapping phenotype


HPO:

31
migraine, familial hemiplegic, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



Summaries for Migraine, Familial Hemiplegic, 2

UniProtKB/Swiss-Prot : 73 Migraine, familial hemiplegic, 2: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.

MalaCards based summary : Migraine, Familial Hemiplegic, 2, also known as migraine, familial basilar, is related to familial or sporadic hemiplegic migraine and episodic ataxia, type 2, and has symptoms including fever, hemiparesis and hemiplegia. An important gene associated with Migraine, Familial Hemiplegic, 2 is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. Affiliated tissues include brain and smooth muscle, and related phenotypes are intellectual disability and fever

Disease Ontology : 12 A familial hemiplegic migraine that has material basis in heterozygous mutation in ATP1A2 on 1q23.2.

More information from OMIM: 602481 PS141500

Related Diseases for Migraine, Familial Hemiplegic, 2

Diseases in the Familial Hemiplegic Migraine family:

Migraine, Familial Hemiplegic, 1 Migraine, Familial Hemiplegic, 2
Migraine, Familial Hemiplegic, 3 Sporadic Hemiplegic Migraine
Familial or Sporadic Hemiplegic Migraine

Diseases related to Migraine, Familial Hemiplegic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 familial or sporadic hemiplegic migraine 30.7 SCN1A PRRT2 CACNA1A ATP1A2
2 episodic ataxia, type 2 30.5 SCN1A CACNA1A ATP1A2
3 sporadic hemiplegic migraine 30.3 SCN1A CACNA1A ATP1A2
4 benign epilepsy with centrotemporal spikes 30.3 SCN1A PRRT2 ATP1A2
5 headache 30.2 SCN1A KCNK18 CACNA1A ATP1A2
6 visual epilepsy 29.9 SCN1A PRRT2 ATP1A3
7 hemiplegia 29.9 SLC1A3 SCN1A CACNA1A ATP1A3 ATP1A2
8 familial hemiplegic migraine 29.9 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A3
9 migraine, familial hemiplegic, 1 29.5 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A2
10 migraine with aura 29.2 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A3
11 migraine, familial hemiplegic, 3 28.5 SLC4A4 SLC1A3 SCN1A PRRT2 MTDH KCNK18
12 migraine with or without aura 1 28.3 TSPAN2 SLC4A4 SLC24A3 SLC1A3 SLC1A2 SCN1A
13 ocular motor apraxia 10.4
14 hereditary episodic ataxia 10.3 SLC1A3 CACNA1A
15 hemidystonia 10.3 CACNA1A ATP1A3
16 multifocal dystonia 10.3 CACNA1A ATP1A3
17 spinocerebellar ataxia, autosomal recessive 14 10.3 CACNA1A ATP1A3
18 reflex epilepsy 10.3 SCN1A PRRT2
19 torticollis 10.3 PRRT2 CACNA1A
20 episodic ataxia, type 6 10.3 SLC1A3 CACNA1A
21 ataxia and polyneuropathy, adult-onset 10.2
22 atp1a3-related neurologic disorders 10.2
23 episodic ataxia, type 5 10.2 SCN1A CACNA1A ATP1A2
24 benign familial neonatal epilepsy 10.2 SCN1A PRRT2
25 spinocerebellar ataxia 6 10.2 SCN1A CACNA1A ATP1A2
26 adolescence-adult electroclinical syndrome 10.2 SCN1A CACNA1A
27 episodic ataxia, type 1 10.2 SCN1A CACNA1A
28 dystonia, dopa-responsive 10.2 PRRT2 ATP1A3
29 infancy electroclinical syndrome 10.2 SCN1A PRRT2 ATP1A2
30 photosensitive epilepsy 10.2 SCN1A CACNA1A
31 electroclinical syndrome 10.2 SCN1A PRRT2 CACNA1A
32 wernicke encephalopathy 10.1 SLC1A3 SLC1A2
33 apraxia 10.1
34 speech disorder 10.1
35 febrile seizures 10.1
36 seizure disorder 10.1
37 movement disease 10.1 PRRT2 CACNA1A ATP1A3
38 status epilepticus 10.1 SLC1A2 SCN1A CACNA1A
39 obsessive-compulsive disorder 10.1
40 alacrima, achalasia, and mental retardation syndrome 10.1
41 aphasia 10.1
42 viral meningitis 10.1
43 allergic hypersensitivity disease 10.1
44 focal epilepsy 10.1
45 pathologic nystagmus 10.1
46 encephalopathy 10.1
47 leukoencephalopathy, hereditary diffuse, with spheroids 10.1 SLC1A3 SLC1A2 SCN1A
48 hereditary ataxia 10.0 SLC1A3 CACNA1A ATP1A3
49 epileptic encephalopathy, early infantile, 1 10.0 SCN1A CACNA1A
50 temporal lobe epilepsy 10.0 SLC1A3 SLC1A2 SCN1A

Graphical network of the top 20 diseases related to Migraine, Familial Hemiplegic, 2:



Diseases related to Migraine, Familial Hemiplegic, 2

Symptoms & Phenotypes for Migraine, Familial Hemiplegic, 2

Human phenotypes related to Migraine, Familial Hemiplegic, 2:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 fever 31 HP:0001945
3 dysphasia 31 HP:0002357
4 vertigo 31 HP:0002321
5 dysarthria 31 HP:0001260
6 aphasia 31 HP:0002381
7 hemiparesis 31 HP:0001269
8 diplopia 31 HP:0000651
9 hemiplegia 31 HP:0002301
10 confusion 31 HP:0001289
11 coma 31 HP:0001259
12 episodic ataxia 31 HP:0002131
13 drowsiness 31 HP:0002329
14 blurred vision 31 HP:0000622
15 apraxia 31 HP:0002186
16 migraine with aura 31 HP:0002077
17 seizure 31 HP:0001250
18 transient unilateral blurring of vision 31 HP:0001125

Symptoms via clinical synopsis from OMIM:

56
Metabolic Features:
fever

Head And Neck Eyes:
hemianopic blurring of vision

Neurologic Central Nervous System:
dysphasia
migraine
aphasia
hemiparesis
hemiplegia
more

Clinical features from OMIM:

602481

UMLS symptoms related to Migraine, Familial Hemiplegic, 2:


fever, hemiparesis, hemiplegia

MGI Mouse Phenotypes related to Migraine, Familial Hemiplegic, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 AJAP1 ATP1A2 ATP1A3 CACNA1A PRRT2 SCN1A
2 nervous system MP:0003631 9.36 AJAP1 ATP1A2 ATP1A3 CACNA1A KCNK18 PRRT2

Drugs & Therapeutics for Migraine, Familial Hemiplegic, 2

Search Clinical Trials , NIH Clinical Center for Migraine, Familial Hemiplegic, 2

Genetic Tests for Migraine, Familial Hemiplegic, 2

Genetic tests related to Migraine, Familial Hemiplegic, 2:

# Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine Type 2 29 ATP1A2

Anatomical Context for Migraine, Familial Hemiplegic, 2

MalaCards organs/tissues related to Migraine, Familial Hemiplegic, 2:

40
Brain, Smooth Muscle

Publications for Migraine, Familial Hemiplegic, 2

Articles related to Migraine, Familial Hemiplegic, 2:

(show top 50) (show all 88)
# Title Authors PMID Year
1
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 61 6 56
15459825 2004
2
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. 6 61 56
15159495 2004
3
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. 6 56 61
12539047 2003
4
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. 56 6
25138102 2015
5
PRRT2 and hemiplegic migraine: a complex association. 56 6
24928127 2014
6
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. 56 6
17473835 2007
7
Familial basilar migraine associated with a new mutation in the ATP1A2 gene. 56 6
16344534 2005
8
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 6 56
12953268 2003
9
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome. 56 6
9579893 1997
10
Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine. 6 61
22117059 2012
11
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. 6 61
17952365 2007
12
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. 61 56
16437583 2006
13
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. 61 6
15133718 2004
14
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. 56 61
12601705 2003
15
Familial Hemiplegic Migraine 61 6
20301562 2001
16
Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. 61 56
9403481 1997
17
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 56
20837964 2010
18
Calcitonin gene-related peptide does not cause the familial hemiplegic migraine phenotype. 56
18779512 2008
19
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. 56
18028456 2008
20
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. 56
18056581 2007
21
Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine. 6
17877748 2007
22
Genomewide significant linkage to migrainous headache on chromosome 5q21. 56
16080125 2005
23
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. 6
16037212 2005
24
Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II. 56
15985592 2005
25
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. 6
15308625 2004
26
Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1. 56
10569214 1999
27
Astrocyte dysfunction increases cortical dendritic excitability and promotes cranial pain in familial migraine. 61
32548257 2020
28
Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review. 61
31766058 2020
29
Astrocytes in Atp1a2-deficient heterozygous mice exhibit hyperactivity after induction of cortical spreading depression. 61
32237043 2020
30
Na+/K+-ATPase α isoform deficiency results in distinct spreading depolarization phenotypes. 61
30819023 2020
31
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
32
Abnormal neurovascular coupling as a cause of excess cerebral vasodilation in familial migraine. 61
31710670 2019
33
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions. 61
30922082 2019
34
Smooth muscle Ca2+ sensitization causes hypercontractility of middle cerebral arteries in mice bearing the familial hemiplegic migraine type 2 associated mutation. 61
29513112 2019
35
Involvement of the Na+ ,K+ -ATPase isoforms in control of cerebral perfusion. 61
30768809 2019
36
Increased susceptibility to cortical spreading depression and epileptiform activity in a mouse model for FHM2. 61
30446731 2018
37
Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2. 61
30097147 2018
38
Enhanced susceptibility to cortical spreading depression in two types of Na+,K+-ATPase α2 subunit-deficient mice as a model of familial hemiplegic migraine 2. 61
29041816 2018
39
Genetic insights into migraine and glutamate: a protagonist driving the headache. 61
27423601 2016
40
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. 61
27354390 2016
41
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. 61
26911348 2016
42
Insights into the Pathology of the α2-Na(+)/K(+)-ATPase in Neurological Disorders; Lessons from Animal Models. 61
27199775 2016
43
The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence. 61
27313535 2016
44
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. 61
25411546 2015
45
Biochemical changes in the brain of hemiplegic migraine patients measured with 7 tesla 1H-MRS. 61
24651393 2014
46
Familial hemiplegic migraine treated by sodium valproate and lamotrigine. 61
24443394 2014
47
Biochemical characterization of sporadic/familial hemiplegic migraine mutations. 61
24704353 2014
48
Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 61
24921013 2014
49
Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci. 61
24286483 2014
50
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. 61
24096472 2014

Variations for Migraine, Familial Hemiplegic, 2

ClinVar genetic disease variations for Migraine, Familial Hemiplegic, 2:

6 (show top 50) (show all 148) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 deletion Pathogenic 559476
2 ATP1A2 NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro)SNV Pathogenic 12917 rs28933398 1:160105635-160105635 1:160135845-160135845
3 ATP1A2 NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg)SNV Pathogenic 12918 rs28933399 1:160106455-160106455 1:160136665-160136665
4 ATP1A2 NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr)SNV Pathogenic 12919 rs28933400 1:160105300-160105300 1:160135510-160135510
5 ATP1A2 NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg)SNV Pathogenic 12922 rs121918612 1:160097494-160097494 1:160127704-160127704
6 ATP1A2 NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala)SNV Pathogenic 12923 rs121918613 1:160098457-160098457 1:160128667-160128667
7 ATP1A2 NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)SNV Pathogenic 12924 rs121918614 1:160105260-160105260 1:160135470-160135470
8 ATP1A2 NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)SNV Pathogenic 12926 rs121918616 1:160100073-160100073 1:160130283-160130283
9 ATP1A2 NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr)SNV Pathogenic 12927 rs121918617 1:160097450-160097450 1:160127660-160127660
10 ATP1A2 NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)SNV Pathogenic 12930 rs121918620 1:160098551-160098551 1:160128761-160128761
11 ATP1A2 NM_000702.4(ATP1A2):c.571G>A (p.Val191Met)SNV Pathogenic 222078 rs869025341 1:160094161-160094161 1:160124371-160124371
12 ATP1A2 NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)SNV Likely pathogenic 12925 rs121918615 1:160109525-160109525 1:160139735-160139735
13 ATP1A2 NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln)SNV Likely pathogenic 12920 rs28933401 1:160105036-160105036 1:160135246-160135246
14 ATP1A2 NM_000702.4(ATP1A2):c.2115+8C>TSNV Conflicting interpretations of pathogenicity 874765 1:160105093-160105093 1:160135303-160135303
15 ATP1A2 NM_000702.4(ATP1A2):c.2563+15G>ASNV Conflicting interpretations of pathogenicity 876691 1:160106175-160106175 1:160136385-160136385
16 ATP1A2 NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn)SNV Conflicting interpretations of pathogenicity 432411 rs374501280 1:160100012-160100012 1:160130222-160130222
17 ATP1A2 NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys)SNV Conflicting interpretations of pathogenicity 841998 1:160091015-160091015 1:160121225-160121225
18 ATP1A2 NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=)SNV Conflicting interpretations of pathogenicity 698248 1:160098570-160098570 1:160128780-160128780
19 ATP1A2 NM_000702.4(ATP1A2):c.2285-7C>TSNV Conflicting interpretations of pathogenicity 704429 1:160105622-160105622 1:160135832-160135832
20 ATP1A2 NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu)SNV Conflicting interpretations of pathogenicity 874764 1:160104985-160104985 1:160135195-160135195
21 ATP1A2 NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)SNV Conflicting interpretations of pathogenicity 12929 rs121918619 1:160093018-160093018 1:160123228-160123228
22 ATP1A2 NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=)SNV Conflicting interpretations of pathogenicity 204892 rs771085157 1:160100381-160100381 1:160130591-160130591
23 ATP1A2 NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys)SNV Conflicting interpretations of pathogenicity 204898 rs796052277 1:160105782-160105782 1:160135992-160135992
24 ATP1A2 NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)SNV Conflicting interpretations of pathogenicity 194183 rs141467566 1:160100226-160100226 1:160130436-160130436
25 ATP1A2 NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=)SNV Conflicting interpretations of pathogenicity 194713 rs143969080 1:160105756-160105756 1:160135966-160135966
26 ATP1A2 NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)SNV Conflicting interpretations of pathogenicity 195466 rs146839867 1:160106732-160106732 1:160136942-160136942
27 ATP1A2 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)SNV Conflicting interpretations of pathogenicity 197162 rs187733403 1:160093019-160093019 1:160123229-160123229
28 ATP1A2 NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=)SNV Conflicting interpretations of pathogenicity 204869 rs55741021 1:160098516-160098516 1:160128726-160128726
29 ATP1A2 NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)SNV Conflicting interpretations of pathogenicity 204888 rs142348542 1:160099904-160099904 1:160130114-160130114
30 ATP1A2 NM_000702.4(ATP1A2):c.1674A>G (p.Pro558=)SNV Conflicting interpretations of pathogenicity 293133 rs769798147 1:160100234-160100234 1:160130444-160130444
31 ATP1A2 NM_000702.4(ATP1A2):c.*932T>CSNV Conflicting interpretations of pathogenicity 293157 rs183455719 1:160112044-160112044 1:160142254-160142254
32 ATP1A2 NM_000702.4(ATP1A2):c.627T>C (p.Cys209=)SNV Conflicting interpretations of pathogenicity 293129 rs139229302 1:160094217-160094217 1:160124427-160124427
33 ATP1A2 NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=)SNV Conflicting interpretations of pathogenicity 387509 rs376128790 1:160100008-160100008 1:160130218-160130218
34 ATP1A2 NM_000702.4(ATP1A2):c.1461+5G>ASNV Conflicting interpretations of pathogenicity 385392 rs199906945 1:160099195-160099195 1:160129405-160129405
35 ATP1A2 NM_000702.4(ATP1A2):c.*870G>ASNV Uncertain significance 293155 rs886045423 1:160111982-160111982 1:160142192-160142192
36 ATP1A2 NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met)SNV Uncertain significance 390229 rs373276446 1:160106751-160106751 1:160136961-160136961
37 ATP1A2 NM_000702.4(ATP1A2):c.*2065G>ASNV Uncertain significance 293186 rs886045436 1:160113177-160113177 1:160143387-160143387
38 ATP1A2 NM_000702.4(ATP1A2):c.-70G>ASNV Uncertain significance 293123 rs569640199 1:160085582-160085582 1:160115792-160115792
39 ATP1A2 NM_000702.4(ATP1A2):c.285C>T (p.Phe95=)SNV Uncertain significance 293125 rs886045415 1:160093110-160093110 1:160123320-160123320
40 ATP1A2 NM_000702.4(ATP1A2):c.360G>A (p.Glu120=)SNV Uncertain significance 293127 rs369061211 1:160093185-160093185 1:160123395-160123395
41 ATP1A2 NM_000702.4(ATP1A2):c.*910A>GSNV Uncertain significance 293156 rs886045424 1:160112022-160112022 1:160142232-160142232
42 ATP1A2 NM_000702.4(ATP1A2):c.*147C>TSNV Uncertain significance 293141 rs574763789 1:160111259-160111259 1:160141469-160141469
43 ATP1A2 NM_000702.4(ATP1A2):c.*1815G>CSNV Uncertain significance 293184 rs886045435 1:160112927-160112927 1:160143137-160143137
44 ATP1A2 NM_000702.4(ATP1A2):c.*2070C>TSNV Uncertain significance 293187 rs886045437 1:160113182-160113182 1:160143392-160143392
45 ATP1A2 NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys)SNV Uncertain significance 387342 rs779985796 1:160098835-160098835 1:160129045-160129045
46 ATP1A2 NM_000702.4(ATP1A2):c.*25T>CSNV Uncertain significance 293136 rs768950032 1:160111137-160111137 1:160141347-160141347
47 ATP1A2 NM_000702.4(ATP1A2):c.*383C>TSNV Uncertain significance 293145 rs528397631 1:160111495-160111495 1:160141705-160141705
48 ATP1A2 NM_000702.4(ATP1A2):c.*1035A>GSNV Uncertain significance 293161 rs886045425 1:160112147-160112147 1:160142357-160142357
49 ATP1A2 NM_000702.4(ATP1A2):c.*1207G>TSNV Uncertain significance 293163 rs566535472 1:160112319-160112319 1:160142529-160142529
50 ATP1A2 NM_000702.4(ATP1A2):c.*1284C>ASNV Uncertain significance 293169 rs78507938 1:160112396-160112396 1:160142606-160142606

UniProtKB/Swiss-Prot genetic disease variations for Migraine, Familial Hemiplegic, 2:

73
# Symbol AA change Variation ID SNP ID
1 ATP1A2 p.Arg689Gln VAR_019935 rs28933401
2 ATP1A2 p.Met731Thr VAR_019936 rs28933400
3 ATP1A2 p.Leu764Pro VAR_019937 rs28933398
4 ATP1A2 p.Trp887Arg VAR_019938 rs28933399
5 ATP1A2 p.Gly715Arg VAR_065685 rs155324577
6 ATP1A2 p.Gly874Ser VAR_069991
7 ATP1A2 p.Arg1007Trp VAR_069992 rs746795369

Expression for Migraine, Familial Hemiplegic, 2

Search GEO for disease gene expression data for Migraine, Familial Hemiplegic, 2.

Pathways for Migraine, Familial Hemiplegic, 2

Pathways related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 SLC4A4 SLC24A3 SLC1A3 SLC1A2 ATP1A3 ATP1A2
2
Show member pathways
12.43 SLC1A3 SLC1A2 SCN1A CACNA1A
3
Show member pathways
12.38 SCN1A KCNK18 ATP1A3 ATP1A2 ATP13A1
4 11.59 SLC4A4 ATP1A3 ATP1A2
5 11.5 SLC4A4 ATP1A3 ATP1A2
6
Show member pathways
11.37 SLC1A3 SLC1A2 CACNA1A ATP1A2
7 10.83 SLC1A3 SLC1A2
8
Show member pathways
10.22 SLC1A3 SLC1A2
9 10.16 SLC4A4 ATP1A3 ATP1A2

GO Terms for Migraine, Familial Hemiplegic, 2

Cellular components related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.03 TSPAN2 SLC4A4 SLC24A3 SLC1A3 SLC1A2 SCN1A
2 membrane GO:0016020 10.03 TSPAN2 SLC4A4 SLC24A3 SLC1A3 SLC1A2 SCN1A
3 integral component of plasma membrane GO:0005887 9.97 TSPAN2 SLC4A4 SLC24A3 SLC1A3 SLC1A2 KCNK18
4 cell GO:0005623 9.91 SLC4A4 SLC24A3 CACNA1A ATP1A3 ATP1A2 ATP13A1
5 synapse GO:0045202 9.85 SLC1A3 PRRT2 CACNA1A ATP1A3 ATP1A2
6 axon GO:0030424 9.78 SLC1A2 SCN1A PRRT2 ATP1A3
7 neuronal cell body GO:0043025 9.77 SLC1A3 SCN1A CACNA1A ATP1A3 ATP1A2
8 integral component of membrane GO:0016021 9.5 TSPAN2 SLC4A4 SLC24A3 SLC1A3 SLC1A2 SCN1A
9 sodium:potassium-exchanging ATPase complex GO:0005890 9.4 ATP1A3 ATP1A2
10 membrane protein complex GO:0098796 9.32 SLC1A3 SLC1A2
11 spanning component of plasma membrane GO:0044214 9.13 SLC4A4 SLC24A3 AJAP1

Biological processes related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.88 SLC4A4 SLC24A3 SLC1A3 SLC1A2 SCN1A CACNA1A
2 regulation of membrane potential GO:0042391 9.77 SLC4A4 SCN1A CACNA1A
3 ion transmembrane transport GO:0034220 9.77 SCN1A CACNA1A ATP1A3 ATP1A2 ATP13A1
4 potassium ion transport GO:0006813 9.73 SLC24A3 KCNK18 ATP1A3 ATP1A2
5 anion transmembrane transport GO:0098656 9.67 SLC4A4 SLC24A3 SLC1A2
6 glutamate secretion GO:0014047 9.62 SLC1A3 SLC1A2
7 adult walking behavior GO:0007628 9.62 SCN1A CACNA1A
8 sodium ion transmembrane transport GO:0035725 9.62 SLC4A4 SLC24A3 SCN1A ATP1A2
9 response to light stimulus GO:0009416 9.61 SLC1A3 SLC1A2
10 cellular sodium ion homeostasis GO:0006883 9.61 ATP1A3 ATP1A2
11 L-glutamate transmembrane transport GO:0015813 9.6 SLC1A3 SLC1A2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 ATP1A3 ATP1A2
13 cellular potassium ion homeostasis GO:0030007 9.58 ATP1A3 ATP1A2
14 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.57 ATP1A3 ATP1A2
15 neurotransmitter uptake GO:0001504 9.56 SLC1A3 ATP1A2
16 cellular response to steroid hormone stimulus GO:0071383 9.55 ATP1A3 ATP1A2
17 potassium ion transmembrane transport GO:0071805 9.55 SLC24A3 SLC1A3 KCNK18 ATP1A3 ATP1A2
18 neuromuscular process controlling posture GO:0050884 9.54 SCN1A PRRT2
19 transepithelial transport GO:0070633 9.52 SLC1A3 SLC1A2
20 L-glutamate import across plasma membrane GO:0098712 9.51 SLC1A3 SLC1A2
21 response to glycoside GO:1903416 9.48 ATP1A3 ATP1A2
22 D-aspartate import across plasma membrane GO:0070779 9.46 SLC1A3 SLC1A2
23 sodium ion export across plasma membrane GO:0036376 9.43 SLC4A4 ATP1A3 ATP1A2
24 sodium ion transport GO:0006814 9.35 SLC4A4 SLC24A3 SCN1A ATP1A3 ATP1A2
25 ion transport GO:0006811 9.28 SLC4A4 SLC24A3 SLC1A3 SLC1A2 SCN1A KCNK18

Molecular functions related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anion transmembrane transporter activity GO:0008509 9.43 SLC4A4 SLC1A2
2 L-glutamate transmembrane transporter activity GO:0005313 9.4 SLC1A3 SLC1A2
3 sodium:potassium-exchanging ATPase activity GO:0005391 9.37 ATP1A3 ATP1A2
4 potassium-transporting ATPase activity GO:0008556 9.32 ATP1A3 ATP1A2
5 steroid hormone binding GO:1990239 9.26 ATP1A3 ATP1A2
6 high-affinity glutamate transmembrane transporter activity GO:0005314 9.16 SLC1A3 SLC1A2
7 glutamate:sodium symporter activity GO:0015501 8.96 SLC1A3 SLC1A2
8 symporter activity GO:0015293 8.92 SLC4A4 SLC24A3 SLC1A3 SLC1A2

Sources for Migraine, Familial Hemiplegic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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