FHM
MCID: FML023
MIFTS: 53

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 52 25 29 6 15 71
Hemiplegic Migraine, Familial 74 52 25
Hemiplegic-Ophthalmoplegic Migraine 52 25
Hemiplegic Migraine Familial 54
Fhm 52

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
ICD9CM 34 346.8
ICD10 32 G43.8
UMLS 71 C0338484 C0477373

Summaries for Familial Hemiplegic Migraine

NIH Rare Diseases : 52 Familial hemiplegic migraine (FHM) is an inherited form of hemiplegic migraine . Hemiplegic migraine is a type of migraine with aura that causes motor impairment (such as weakness) in addition to at least one visual, sensory, or speech disturbance (aura) that occurs before the migraine headache begins. FHM commonly begins during childhood or adolescence. The symptoms of FHM can be scary and distressing. FHM is currently classified into 4 subtypes, distinguished by their genetic cause: FHM type 1 (the most common type) is caused by mutations in the CACNA1A gene and is commonly associated with cerebellar degeneration . FHM type 2 is caused by mutations in the ATP1A2 gene and may be associated with seizures . FHM type 3 is caused by mutations in the SCN1A gene. FHM type 4 is diagnosed if no mutation currently known to cause FHM can be identified. Inheritance of FHM is autosomal dominant , but not everyone who inherits a mutation responsible for FHM will have symptoms (a phenomenon called reduced penetrance ). The diagnosis of FHM requires that at least one first- or second-degree relative has also been diagnosed with hemiplegic migraine. Tests such as a CT scan or MRI of the brain, cerebrospinal fluid analysis , and EEG may be needed to rule out other potential causes of headache and neurological symptoms. Genetic testing may confirm the subtype of FHM in a family. Treatment of hemiplegic migraine involves medications to alleviate pain, stop the migraines, and prevent future migraines. Severe headache attacks may require hospitalization. In most people with hemiplegic migraines, aura symptoms completely go away in between migraines and the migraines become less frequent with age. Rarely, hemiplegic migraines may cause permanent neurological symptoms, cognitive impairment, stroke, coma, or death.

MalaCards based summary : Familial Hemiplegic Migraine, also known as hemiplegic migraine, familial, is related to sporadic hemiplegic migraine and migraine, familial hemiplegic, 2. An important gene associated with Familial Hemiplegic Migraine is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. The drugs Ethosuximide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased 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. In some types of migraine, including familial hemiplegic migraine, a pattern of neurological symptoms called an aura precedes 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). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour. Unusually severe migraine episodes have been reported in some people with familial hemiplegic migraine. These episodes have included fever, seizures, prolonged weakness, coma, and, rarely, death. Although most people with familial hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. About 20 percent of people with this condition develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus.

Wikipedia : 74 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 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 Familial Hemiplegic Migraine via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 sporadic hemiplegic migraine 33.7 SCN1A CACNA1A ATP1A2
2 migraine, familial hemiplegic, 2 33.3 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A3
3 migraine, familial hemiplegic, 3 32.8 SLC1A3 SCN5A SCN1A PRRT2 KCNK18 KCNA1
4 migraine, familial hemiplegic, 1 31.9 TSPAN16 TPM3 SLC1A3 SCN1A PRRT2 KCNK18
5 familial or sporadic hemiplegic migraine 31.4 SCN1A PRRT2 CACNA1A ATP1A2
6 migraine without aura 31.2 SCN1A NOTCH3 KCNK18
7 hemiplegia 31.2 SLC1A3 SCN1A CALCA CACNA1A ATP1A3 ATP1A2
8 headache 31.0 SCN1A NOTCH3 KCNK18 CALCA CACNA1A ATP1A2
9 episodic ataxia, type 2 30.7 SCN1A KCNA1 CACNA1B CACNA1A ATP1A2
10 spinocerebellar ataxia 6 30.6 SCN1A KCNA1 CACNA1B CACNA1A ATP1A2
11 benign familial infantile epilepsy 30.4 SCN1A PRRT2 CACNA1A ATP1A3 ATP1A2
12 episodic ataxia, type 1 30.4 SCN1A KCNA1 CACNA1A
13 epilepsy 30.3 SCN1A PRRT2 KCNA1 CACNA1A ATP1A3 ATP1A2
14 migraine with or without aura 1 30.0 TSPAN16 TPM3 SLC1A3 SCN5A SCN1A PRRT2
15 episodic ataxia 29.8 SLC1A3 SCN1A PRRT2 KCNA1 CACNA1B CACNA1A
16 alternating hemiplegia of childhood 29.8 TSPAN16 SLC1A3 SCN1A PRRT2 CALCA CACNA1A
17 generalized epilepsy with febrile seizures plus 29.6 SCN5A SCN1A PRRT2 LOC102724058 KCNA1 CACNA1A
18 childhood absence epilepsy 29.5 SCN1A PRRT2 OPRM1 KCNA1 CACNA1B CACNA1A
19 migraine with aura 28.8 TSPAN16 TPM3 SLC1A3 SCN1A PRRT2 OPRM1
20 alternating hemiplegia of childhood 1 11.9
21 idiopathic hemiconvulsion-hemiplegia syndrome 11.6
22 alternating hemiplegia of childhood 2 11.4
23 familiar or sporadic hemiplegic migraine 11.4
24 ataxia and polyneuropathy, adult-onset 10.8
25 ocular motor apraxia 10.7
26 aphasia 10.5
27 pathologic nystagmus 10.5
28 plagiocephaly 10.5 SCN1A LOC102724058
29 cluster headache 10.5 CALCA CACNA1A
30 episodic ataxia, type 5 10.5 SCN1A CACNA1A ATP1A2
31 encephalopathy 10.5
32 hemidystonia 10.5 CACNA1A ATP1A3
33 generalized epilepsy with febrile seizures plus, type 2 10.4 SCN1A LOC102724058
34 autosomal dominant cerebellar ataxia 10.4
35 multifocal dystonia 10.4 CACNA1A ATP1A3
36 thyrotoxic periodic paralysis 10.4 ATP1B2 ATP1B1 ATP1A2
37 trigeminal nerve disease 10.4 SCN1A OPRM1 CALCA
38 generalized epilepsy with febrile seizures plus, type 1 10.4 SCN1A LOC102724058
39 autonomic nervous system disease 10.4 SCN1A OPRM1 CALCA
40 paine syndrome 10.4 SCN1A OPRM1 CALCA
41 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.4
42 atp1a3-related neurologic disorders 10.4
43 reflex epilepsy 10.4 SCN1A PRRT2
44 somatoform disorder 10.4 SCN1A OPRM1 CALCA
45 spinocerebellar ataxia, autosomal recessive 14 10.3 CACNA1A ATP1A3
46 cerebellar ataxia type 42 10.3 CACNA1B CACNA1A
47 infancy electroclinical syndrome 10.3 SCN1A PRRT2 ATP1A2
48 episodic ataxia, type 7 10.3 KCNA1 CACNA1A
49 seizure disorder 10.3
50 specific language disorder 10.3

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 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.75 NOTCH3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 9.75 PRKCSH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.75 NOTCH3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.75 TPM3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.75 TPM3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.75 TPM3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.75 TPM3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.75 PRKCSH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 9.75 TPM3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-186 9.75 SCN1A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.75 NOTCH3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.75 TPM3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.75 PRKCSH SCN1A
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.75 TPM3
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.75 NOTCH3
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.75 TPM3
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.75 NOTCH3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.75 NOTCH3
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.75 SCN1A
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.75 TPM3
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.75 SCN1A
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.75 TPM3
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-78 9.75 TPM3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.75 TPM3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 9.75 SCN1A TPM3

MGI Mouse Phenotypes related to Familial Hemiplegic Migraine:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ATP1A2 ATP1A3 ATP1B2 CACNA1A CACNA1B KCNA1
2 mortality/aging MP:0010768 10.1 ATP1A2 ATP1A3 ATP1B1 ATP1B2 CACNA1A CACNA1B
3 nervous system MP:0003631 9.8 ATP1A2 ATP1A3 ATP1B2 CACNA1A CACNA1B KCNA1
4 muscle MP:0005369 9.76 ATP1A2 ATP1A3 ATP1B1 CACNA1A KCNA1 NOTCH3
5 respiratory system MP:0005388 9.17 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
Ethosuximide Approved Phase 1, Phase 2 77-67-8 3291
2 Anticonvulsants Phase 1, Phase 2
3
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
4
Nitroglycerin Approved, Investigational 55-63-0 4510
5
Calcitonin gene-related peptide Investigational 83652-28-2
6 calcitonin
7 Katacalcin
8 Vasodilator Agents
9 Hormones
10 Calcium, Dietary
11
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pharmacologic and Genetic Evaluation of a C. Elegans Model for Migraine Terminated NCT01122381 Phase 1, Phase 2 ethosuximide
2 Identification of Inflammatory Markers in Migraine Patients Unknown status NCT00969995
3 Inflammatory Markers Identification in Migraine Patients Unknown status NCT01618201
4 Calcitonin Gene Related Peptide-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2. Completed NCT00358839 CGRP
5 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Completed NCT00541736 Nitroglycerine
6 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2 Completed NCT00257985 GTN
7 CGRP-induced Headache in Patients With Familial Hemiplegic Migraine, Migraine With Aura and Healthy Controls Completed NCT00687947 CGRP
8 CGRP Induced Migraine Attacks in Patients With High and Low Genetic Load Completed NCT01924052 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:

40
Brain, Testes, Eye, Trigeminal Ganglion, Cortex, Cerebellum, Spinal Cord

Publications for Familial Hemiplegic Migraine

Articles related to Familial Hemiplegic Migraine:

(show top 50) (show all 693)
# Title Authors PMID Year
1
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 61 54 24
19332696 2009
2
ATP1A2 mutations in 11 families with familial hemiplegic migraine. 61 54 24
16088919 2005
3
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. 54 61 24
16054936 2005
4
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. 61 24 54
12756131 2003
5
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 61 54 24
12707077 2003
6
Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing. 54 61 24
12705332 2003
7
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. 54 24 61
12539047 2003
8
Familial Hemiplegic Migraine 61 6
20301562 2001
9
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. 24 54 61
11061267 2000
10
Genetic heterogeneity in Italian families with familial hemiplegic migraine. 54 61 24
10408532 1999
11
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. 54 61 24
10408534 1999
12
Calcium channelopathies in the central nervous system. 54 24 61
10395579 1999
13
A new locus for hemiplegic migraine maps to chromosome 1q31. 61 24 54
9371899 1997
14
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 61 54 24
9302278 1997
15
Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans. 24 61
25741235 2015
16
Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced excitatory transmission in CaV2.1 knockin migraine mice. 61 24
24907493 2014
17
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. 61 24
24849341 2014
18
Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred. 61 24
19153782 2009
19
Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice. 61 24
19285472 2009
20
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. 61 24
19220312 2009
21
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2. 61 24
18728015 2008
22
A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures. 24 61
18644608 2008
23
Divergent sodium channel defects in familial hemiplegic migraine. 61 24
18621678 2008
24
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. 24 61
18021921 2007
25
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. 61 24
17397047 2007
26
The genetic spectrum of a population-based sample of familial hemiplegic migraine. 24 61
17142831 2007
27
1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1. 61 24
15728280 2005
28
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 61 24
15459825 2004
29
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. 24 61
15174025 2004
30
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. 61 24
15159495 2004
31
A locus for migraine without aura maps on chromosome 14q21.2-q22.3. 61 24
12474141 2003
32
Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. 61 24
12235360 2002
33
A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria. 61 24
12023326 2002
34
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. 24 61
12056940 2002
35
Is the CACNA1A gene involved in familial migraine with aura? 61 24
12111613 2002
36
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. 24 61
11439943 2001
37
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. 24 61
11409427 2001
38
Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1. 24 61
10569214 1999
39
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. 61 24
9915947 1999
40
Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis. 24 61
10202246 1999
41
Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Dutch Migraine Genetics Research Group. 61 24
9566402 1998
42
Familial hemiplegic migraine with irreversible brain damage. 61 24
9550598 1998
43
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 61 24
8898206 1996
44
Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). 24 61
7486874 1995
45
Episodes of acute confusion or psychosis in familial hemiplegic migraine. 24 61
7102264 1982
46
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 24
22842232 2012
47
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 24
20837964 2010
48
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation. 54 61
20071244 2010
49
A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis. 54 61
20080591 2010
50
Parental SCN1A mutation mosaicism in familial Dravet syndrome. 61 54
19673951 2009

Variations for Familial Hemiplegic Migraine

ClinVar genetic disease variations for Familial Hemiplegic Migraine:

6 (show top 50) (show all 193) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A2 NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)SNV Pathogenic 446871 rs1553245857 1:160106160-160106160 1:160136370-160136370
2 ATP1A2 NM_000702.4(ATP1A2):c.1743C>A (p.Cys581Ter)SNV Pathogenic 644202 1:160100303-160100303 1:160130513-160130513
3 ATP1A2 NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)SNV Pathogenic 12930 rs121918620 1:160098551-160098551 1:160128761-160128761
4 ATP1A2 NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter)SNV Pathogenic/Likely pathogenic 444184 rs1165052640 1:160098814-160098814 1:160129024-160129024
5 ATP1A2 NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg)SNV Pathogenic/Likely pathogenic 446869 rs1553245771 1:160105251-160105251 1:160135461-160135461
6 ATP1A2 NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met)SNV Likely pathogenic 460305 rs1226796744 1:160109465-160109465 1:160139675-160139675
7 ATP1A2 NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His)SNV Likely pathogenic 521207 rs1553245943 1:160106791-160106791 1:160137001-160137001
8 ATP1A2 NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His)SNV Likely pathogenic 572285 rs1558008759 1:160105778-160105778 1:160135988-160135988
9 ATP1A2 NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu)SNV Likely pathogenic 68985 rs149144720 1:160106360-160106360 1:160136570-160136570
10 ATP1A2 NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)SNV Likely pathogenic 12925 rs121918615 1:160109525-160109525 1:160139735-160139735
11 ATP1A2 NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)SNV Conflicting interpretations of pathogenicity 194183 rs141467566 1:160100226-160100226 1:160130436-160130436
12 ATP1A2 NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)SNV Conflicting interpretations of pathogenicity 195466 rs146839867 1:160106732-160106732 1:160136942-160136942
13 ATP1A2 NM_000702.4(ATP1A2):c.3034+6C>ASNV Conflicting interpretations of pathogenicity 195658 rs574788908 1:160109780-160109780 1:160139990-160139990
14 ATP1A2 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)SNV Conflicting interpretations of pathogenicity 197162 rs187733403 1:160093019-160093019 1:160123229-160123229
15 ATP1A2 NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln)SNV Conflicting interpretations of pathogenicity 198746 rs373178892 1:160097429-160097429 1:160127639-160127639
16 ATP1A2 NM_000702.4(ATP1A2):c.8G>A (p.Arg3His)SNV Conflicting interpretations of pathogenicity 204902 rs781687346 1:160085659-160085659 1:160115869-160115869
17 ATP1A2 NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=)SNV Conflicting interpretations of pathogenicity 204869 rs55741021 1:160098516-160098516 1:160128726-160128726
18 ATP1A2 NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser)SNV Conflicting interpretations of pathogenicity 204887 rs529607288 1:160099144-160099144 1:160129354-160129354
19 ATP1A2 NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)SNV Conflicting interpretations of pathogenicity 204888 rs142348542 1:160099904-160099904 1:160130114-160130114
20 ATP1A2 NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met)SNV Conflicting interpretations of pathogenicity 204889 rs150465651 1:160099931-160099931 1:160130141-160130141
21 ATP1A2 NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=)SNV Conflicting interpretations of pathogenicity 204892 rs771085157 1:160100381-160100381 1:160130591-160130591
22 ATP1A2 NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala)SNV Conflicting interpretations of pathogenicity 204896 rs147183887 1:160105381-160105381 1:160135591-160135591
23 ATP1A2 NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=)SNV Conflicting interpretations of pathogenicity 698248 1:160098570-160098570 1:160128780-160128780
24 ATP1A2 NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys)SNV Conflicting interpretations of pathogenicity 841998 1:160091015-160091015 1:160121225-160121225
25 ATP1A2 NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn)SNV Conflicting interpretations of pathogenicity 432411 rs374501280 1:160100012-160100012 1:160130222-160130222
26 ATP1A2 NM_000702.4(ATP1A2):c.627T>C (p.Cys209=)SNV Conflicting interpretations of pathogenicity 293129 rs139229302 1:160094217-160094217 1:160124427-160124427
27 ATP1A2 NM_000702.4(ATP1A2):c.152G>A (p.Arg51His)SNV Conflicting interpretations of pathogenicity 372793 rs144106169 1:160091016-160091016 1:160121226-160121226
28 ATP1A2 NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=)SNV Conflicting interpretations of pathogenicity 387509 rs376128790 1:160100008-160100008 1:160130218-160130218
29 ATP1A2 NM_000702.4(ATP1A2):c.1461+5G>ASNV Conflicting interpretations of pathogenicity 385392 rs199906945 1:160099195-160099195 1:160129405-160129405
30 ATP1A2 NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=)SNV Conflicting interpretations of pathogenicity 381991 rs149286529 1:160109713-160109713 1:160139923-160139923
31 ATP1A2 NM_000702.4(ATP1A2):c.1652-8C>TSNV Conflicting interpretations of pathogenicity 381990 rs370023134 1:160100204-160100204 1:160130414-160130414
32 ATP1A2 NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg)SNV Uncertain significance 384176 rs1057521886 1:160104305-160104305 1:160134515-160134515
33 ATP1A2 NM_000702.4(ATP1A2):c.1540C>T (p.Arg514Trp)SNV Uncertain significance 392452 rs781474239 1:160099970-160099970 1:160130180-160130180
34 ATP1A2 NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met)SNV Uncertain significance 390229 rs373276446 1:160106751-160106751 1:160136961-160136961
35 ATP1A2 NM_000702.4(ATP1A2):c.205G>A (p.Val69Ile)SNV Uncertain significance 381935 rs558323868 1:160093030-160093030 1:160123240-160123240
36 ATP1A2 NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile)SNV Uncertain significance 392148 rs28934002 1:160098557-160098557 1:160128767-160128767
37 SCN1A NM_001165963.4(SCN1A):c.*878dupduplication Uncertain significance 331872 rs886055037 2:166846876-166846877 2:165990366-165990367
38 SCN1A NM_001165963.4(SCN1A):c.*672_*675deldeletion Uncertain significance 331874 rs886055038 2:166847080-166847083 2:165990570-165990573
39 ATP1A2 NM_000702.4(ATP1A2):c.*1241deldeletion Uncertain significance 293166 rs886045426 1:160112351-160112351 1:160142561-160142561
40 ATP1A2 NM_000702.4(ATP1A2):c.*1630C>TSNV Uncertain significance 293180 rs886045433 1:160112742-160112742 1:160142952-160142952
41 ATP1A2 NM_000702.4(ATP1A2):c.*1547_*1548delinsTTindel Uncertain significance 293177 rs886045432 1:160112659-160112660 1:160142869-160142870
42 SCN1A NM_001165963.4(SCN1A):c.*1872deldeletion Uncertain significance 331859 rs878898132 2:166845883-166845883 2:165989373-165989373
43 ATP1A2 NM_000702.4(ATP1A2):c.*1643_*1646deldeletion Uncertain significance 293181 rs533473532 1:160112752-160112755 1:160142962-160142965
44 ATP1A2 NM_000702.4(ATP1A2):c.2131G>A (p.Val711Met)SNV Uncertain significance 460299 rs1282248061 1:160105239-160105239 1:160135449-160135449
45 ATP1A2 NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp)SNV Uncertain significance 453128 rs764917849 1:160095031-160095031 1:160125241-160125241
46 ATP1A2 NC_000001.10:g.(?_160011163)_(160111132_?)dupduplication Uncertain significance 470189 1:160011163-160111132
47 ATP1A2 NM_000702.4(ATP1A2):c.1216+5T>CSNV Uncertain significance 460296 rs780155641 1:160098645-160098645 1:160128855-160128855
48 ATP1A2 NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)SNV Uncertain significance 430293 rs181618883 1:160097482-160097482 1:160127692-160127692
49 ATP1A2 NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)SNV Uncertain significance 406194 rs139499540 1:160098815-160098815 1:160129025-160129025
50 ATP1A2 NM_000702.4(ATP1A2):c.1827+3A>GSNV Uncertain significance 406193 rs377238291 1:160100390-160100390 1:160130600-160130600

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 SCN5A SCN1A ATP1B2 ATP1B1 ATP1A3 ATP1A2
2 12.51 SLC1A3 SCN5A SCN1A OPRM1 NOTCH3 CALCA
3
Show member pathways
12.45 CALCA CACNA1B CACNA1A ATP1B2 ATP1B1
4
Show member pathways
12.43 TPM3 SCN5A ATP1B2 ATP1B1 ATP1A3 ATP1A2
5
Show member pathways
12.39 ATP1B2 ATP1B1 ATP1A3 ATP1A2
6
Show member pathways
12.29 TPM3 SCN5A SCN1A KCNK18 ATP1B2 ATP1B1
7 12.21 ATP1B2 ATP1B1 ATP1A3 ATP1A2
8
Show member pathways
12.09 ATP1B2 ATP1B1 ATP1A3 ATP1A2
9
Show member pathways
11.96 SLC1A3 CACNA1B CACNA1A ATP1A2
10
Show member pathways
11.86 CACNA1B ATP1B2 ATP1B1 ATP1A3 ATP1A2
11 11.85 ATP1B2 ATP1B1 ATP1A3 ATP1A2
12 11.8 NOTCH3 ATP1B2 ATP1B1 ATP1A3 ATP1A2
13 11.78 ATP1B2 ATP1B1 ATP1A3 ATP1A2
14 11.54 ATP1B2 ATP1B1 ATP1A3 ATP1A2
15 11.49 TPM3 ATP1B2 ATP1B1 ATP1A3 ATP1A2
16 11.46 ATP1B2 ATP1B1 ATP1A3 ATP1A2
17 11.38 ATP1B2 ATP1B1 ATP1A3 ATP1A2
18 11.13 ATP1B2 ATP1B1 ATP1A3 ATP1A2
19 10.66 CACNA1B CACNA1A
20 10.29 ATP1B2 ATP1B1 ATP1A3 ATP1A2

GO Terms for Familial Hemiplegic Migraine

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.45 TSPAN16 SLC1A3 SCN5A SCN1A PRRT2 OPRM1
2 plasma membrane GO:0005886 10.3 SLC1A3 SCN5A SCN1A PRRT2 OPRM1 NOTCH3
3 integral component of membrane GO:0016021 10.24 TSPAN16 SLC1A3 SCN5A SCN1A PRRT2 OPRM1
4 cell projection GO:0042995 10.06 SLC1A3 PRRT2 OPRM1 KCNA1 CACNA1A ATP1A2
5 synapse GO:0045202 9.98 SLC1A3 PRRT2 KCNA1 CACNA1B CACNA1A ATP1A3
6 neuron projection GO:0043005 9.93 SLC1A3 PRRT2 OPRM1 CALCA ATP1A2
7 presynapse GO:0098793 9.8 PRRT2 KCNA1 CACNA1B CACNA1A
8 axon GO:0030424 9.8 SCN1A PRRT2 OPRM1 KCNA1 CALCA ATP1A3
9 organelle membrane GO:0031090 9.73 ATP1B1 ATP1A3 ATP1A2
10 caveola GO:0005901 9.72 SCN5A ATP1B1 ATP1A2
11 sarcolemma GO:0042383 9.71 SCN5A OPRM1 ATP1B1 ATP1A2
12 lateral plasma membrane GO:0016328 9.7 SCN5A ATP1B2 ATP1B1
13 integral component of presynaptic membrane GO:0099056 9.69 PRRT2 OPRM1 KCNA1
14 voltage-gated sodium channel complex GO:0001518 9.57 SCN5A SCN1A
15 T-tubule GO:0030315 9.56 SCN5A SCN1A ATP1B1 ATP1A2
16 neuronal cell body GO:0043025 9.56 SLC1A3 SCN1A KCNA1 CALCA CACNA1B CACNA1A
17 neuron to neuron synapse GO:0098984 9.48 ATP1B2 ATP1A3
18 intercalated disc GO:0014704 9.46 SCN5A SCN1A ATP1B1 ATP1A2
19 sodium:potassium-exchanging ATPase complex GO:0005890 8.92 ATP1B2 ATP1B1 ATP1A3 ATP1A2

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.08 SLC1A3 SCN5A SCN1A KCNA1 CACNA1B CACNA1A
2 ion transmembrane transport GO:0034220 10.02 SCN5A SCN1A CACNA1A ATP1B2 ATP1B1 ATP1A3
3 chemical synaptic transmission GO:0007268 9.94 SLC1A3 KCNA1 CACNA1B CACNA1A
4 regulation of ion transmembrane transport GO:0034765 9.93 SCN5A SCN1A KCNA1 CACNA1B CACNA1A
5 potassium ion transport GO:0006813 9.93 KCNK18 KCNA1 ATP1B2 ATP1B1 ATP1A3 ATP1A2
6 potassium ion transmembrane transport GO:0071805 9.88 SLC1A3 KCNK18 KCNA1 ATP1B1 ATP1A3 ATP1A2
7 sodium ion transmembrane transport GO:0035725 9.86 SCN5A SCN1A ATP1B1 ATP1A2
8 regulation of membrane potential GO:0042391 9.85 SCN1A KCNA1 CACNA1A
9 sodium ion transport GO:0006814 9.85 SCN5A SCN1A ATP1B2 ATP1B1 ATP1A3 ATP1A2
10 regulation of cardiac conduction GO:1903779 9.83 ATP1B2 ATP1B1 ATP1A3 ATP1A2
11 regulation of blood pressure GO:0008217 9.8 CALCA CACNA1B ATP1A2
12 potassium ion import across plasma membrane GO:1990573 9.8 ATP1B2 ATP1B1 ATP1A3 ATP1A2
13 cardiac muscle contraction GO:0060048 9.77 SCN5A ATP1B1 ATP1A2
14 neuronal action potential GO:0019228 9.75 SCN5A SCN1A KCNA1
15 membrane depolarization GO:0051899 9.74 SCN5A CACNA1B CACNA1A
16 cellular sodium ion homeostasis GO:0006883 9.73 ATP1B2 ATP1B1 ATP1A3 ATP1A2
17 response to pain GO:0048265 9.72 CALCA CACNA1B CACNA1A
18 membrane repolarization GO:0086009 9.69 ATP1B2 ATP1B1 ATP1A2
19 regulation of muscle contraction GO:0006937 9.68 KCNA1 ATP1A2
20 membrane depolarization during action potential GO:0086010 9.67 SCN5A SCN1A
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.67 SCN5A SCN1A
22 response to amyloid-beta GO:1904645 9.66 CACNA1B CACNA1A
23 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.66 SCN1A KCNA1
24 neurotransmitter uptake GO:0001504 9.65 SLC1A3 ATP1A2
25 regulation of cardiac muscle cell contraction GO:0086004 9.65 SCN5A ATP1A2
26 cellular response to steroid hormone stimulus GO:0071383 9.65 ATP1A3 ATP1A2
27 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.64 SCN5A ATP1A2
28 relaxation of cardiac muscle GO:0055119 9.63 ATP1B1 ATP1A2
29 neuromuscular process controlling posture GO:0050884 9.63 SCN1A PRRT2
30 positive regulation of potassium ion import GO:1903288 9.62 ATP1B2 ATP1B1
31 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.62 ATP1B2 ATP1B1 ATP1A3 ATP1A2
32 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.61 ATP1B2 ATP1B1
33 response to glycoside GO:1903416 9.59 ATP1A3 ATP1A2
34 positive regulation of sodium ion export across plasma membrane GO:1903278 9.58 ATP1B2 ATP1B1
35 sodium ion export across plasma membrane GO:0036376 9.56 ATP1B2 ATP1B1 ATP1A3 ATP1A2
36 cellular potassium ion homeostasis GO:0030007 9.46 ATP1B2 ATP1B1 ATP1A3 ATP1A2
37 ion transport GO:0006811 9.36 SLC1A3 SCN5A SCN1A KCNK18 KCNA1 CACNA1B
38 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.26 ATP1B2 ATP1B1 ATP1A3 ATP1A2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.63 CACNA1B CACNA1A ATP1A3
2 ion channel activity GO:0005216 9.55 SCN5A SCN1A KCNA1 CACNA1B CACNA1A
3 cation-transporting ATPase activity GO:0019829 9.49 ATP1B1 ATP1A2
4 potassium ion binding GO:0030955 9.48 ATP1B1 ATP1A2
5 high voltage-gated calcium channel activity GO:0008331 9.43 CACNA1B CACNA1A
6 voltage-gated calcium channel activity GO:0005245 9.43 OPRM1 CACNA1B CACNA1A
7 sodium ion binding GO:0031402 9.4 ATP1B1 ATP1A2
8 potassium-transporting ATPase activity GO:0008556 9.37 ATP1A3 ATP1A2
9 voltage-gated ion channel activity GO:0005244 9.35 SCN5A SCN1A KCNA1 CACNA1B CACNA1A
10 steroid hormone binding GO:1990239 9.32 ATP1A3 ATP1A2
11 sodium:potassium-exchanging ATPase activity GO:0005391 8.92 ATP1B2 ATP1B1 ATP1A3 ATP1A2

Sources for Familial Hemiplegic Migraine

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
Content
Loading form....