FHM1
MCID: MGR032
MIFTS: 54

Migraine, Familial Hemiplegic, 1 (FHM1)

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

Aliases & Classifications for Migraine, Familial Hemiplegic, 1

MalaCards integrated aliases for Migraine, Familial Hemiplegic, 1:

Name: Migraine, Familial Hemiplegic, 1 57 72 13
Fhm1 57 12 72
Mhp1 57 12 72
Familial Hemiplegic Migraine Type 1 29 6
Familial Hemiplegic Migraine 1 12 15
Fhm 57 72
Migraine, Familial Hemiplegic, 1, with Progressive Cerebellar Ataxia 57
Familial Hemiplegic Migraine1 with Progressive Cerebellar Ataxia 12
Migraine Familial Hemiplegic with Progressive Cerebellar Ataxia 72
Migraine, Hemiplegic, Familial, Type 1 39
Hemiplegic Migraine, Familial Type 1 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
subtype of migraine with aura
onset 5-30 years
symptoms usually last 30-60 minutes
pulsatile headache lasts hours to days
in severe attacks, hemiplegia or coma may last days to weeks
triggered by minor head trauma
marked clinical variability within families
allelic disorder to episodic ataxia-2 (ea2, ) and spinocerebellar ataxia-6 (sca6, )


HPO:

31
migraine, familial hemiplegic, 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Migraine, Familial Hemiplegic, 1

UniProtKB/Swiss-Prot : 72 Migraine, familial hemiplegic, 1: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. 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, 1, also known as fhm1, is related to migraine, familial hemiplegic, 3 and hemiplegia, and has symptoms including fever, hemiparesis and hemiplegia. An important gene associated with Migraine, Familial Hemiplegic, 1 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are Transmission across Chemical Synapses and Calcium signaling pathway. The drugs Nitroglycerin and Salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are tremor and seizure

Disease Ontology : 12 A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has material basis in heterozygous mutation in CACNA1A on 19p13.

OMIM® : 57 Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by Ducros et al., 1999). (141500) (Updated 20-May-2021)

Related Diseases for Migraine, Familial Hemiplegic, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 migraine, familial hemiplegic, 3 31.3 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A2
2 hemiplegia 30.1 SLC1A3 SCN1A CACNA1A ATP1A2
3 familial or sporadic hemiplegic migraine 30.1 SCN1A PRRT2 CACNA1A ATP1A2
4 headache 30.1 SLC6A4 SCN1A CACNA1A ATP1A2
5 migraine without aura 29.9 SLC6A4 SCN1A KCNK18 CACNA1A ATP1A2
6 migraine, familial hemiplegic, 2 29.7 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A2
7 migraine with or without aura 1 29.7 TSPAN16 TPM3 SLC6A4 SLC1A3 SCN1A PRRT2
8 episodic ataxia, type 2 29.7 SCN1A CAV2 CACNA1E CACNA1B CACNA1A ATP1A2
9 spinocerebellar ataxia 6 29.5 SCN1A CAV2 CACNA1E CACNA1B CACNA1A ATP1A2
10 familial hemiplegic migraine 29.2 TSPAN16 TPM3 SLC1A3 SCN1A PRRT2 NCS1
11 episodic ataxia 29.1 SLC1A3 SCN1A PRRT2 CAV2 CACNA1E CACNA1B
12 migraine with aura 28.9 TSPAN16 SLC6A4 SLC1A3 SCN1A PRRT2 P2RX3
13 familiar or sporadic hemiplegic migraine 11.1
14 alternating hemiplegia of childhood 1 10.9
15 episodic ataxia, type 5 10.3 CACNA1A ATP1A2
16 sporadic hemiplegic migraine 10.3 SCN1A CACNA1A ATP1A2
17 epilepsy with myoclonic-atonic seizures 10.3 SLC6A1 SCN1A
18 allergic disease 10.3
19 hereditary episodic ataxia 10.3 SLC1A3 CACNA1A
20 torticollis 10.3 PRRT2 CACNA1A
21 cerebellar ataxia type 42 10.3 CACNA1B CACNA1A
22 neonatal period electroclinical syndrome 10.2 SCN1A PRRT2 CACNA1A
23 childhood electroclinical syndrome 10.2 SLC6A1 SCN1A CACNA1A
24 neuronal migration disorders 10.2 SCN1A ATP1A2
25 trigeminal neuralgia 10.2 SLC6A4 SCN1A P2RX3
26 hyperoxaluria, primary, type ii 10.2 TSPAN16 TPM3 SLC1A3
27 infancy electroclinical syndrome 10.2 SCN1A PRRT2 CACNA1A ATP1A2
28 paroxysmal extreme pain disorder 10.2 SCN1A CACNA1B CACNA1A
29 lennox-gastaut syndrome 10.2 SLC6A1 SCN1A CACNA1A
30 benign familial infantile epilepsy 10.2 SCN1A PRRT2 CACNA1A ATP1A2
31 chronic pain 10.2 P2RX3 CACNA1B
32 trigeminal nerve disease 10.2 SCN1A P2RX3 CACNA1B
33 somatoform disorder 10.2 SLC6A4 SCN1A P2RX3
34 episodic ataxia, type 6 10.2 SLC1A7 SLC1A3 CACNA1A
35 generalized epilepsy with febrile seizures plus 10.2 SCN1A PRRT2 CACNA1A ATP1A2
36 paine syndrome 10.2 SLC6A4 SCN1A P2RX3
37 developmental and epileptic encephalopathy 42 10.1
38 parkinsonism 10.1
39 depression 10.1
40 anoxia 10.1
41 encephalopathy 10.1
42 tremor 10.1
43 fleck retina, familial benign 10.1 CACNA1E CACNA1B CACNA1A
44 epilepsy, myoclonic juvenile 10.1 SLC6A1 SCN1A CACNA1A
45 intermittent explosive disorder 10.1 SLC6A4 CTU2
46 stroke, ischemic 10.1
47 hyperekplexia 10.1 SLC6A1 SLC1A7 CACNA1A
48 west syndrome 10.1 SLC6A1 SCN1A PRRT2 CACNA1A
49 dravet syndrome 10.0 SLC6A1 SCN1A PRRT2 CACNA1A ATP1A2
50 epilepsy, idiopathic generalized 10.0 SLC6A1 SCN1A PRRT2 CACNA1A ATP1A2

Graphical network of the top 20 diseases related to Migraine, Familial Hemiplegic, 1:



Diseases related to Migraine, Familial Hemiplegic, 1

Symptoms & Phenotypes for Migraine, Familial Hemiplegic, 1

Human phenotypes related to Migraine, Familial Hemiplegic, 1:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tremor 31 occasional (7.5%) HP:0001337
2 seizure 31 occasional (7.5%) HP:0001250
3 nystagmus 31 HP:0000639
4 ataxia 31 HP:0001251
5 dysphasia 31 HP:0002357
6 fever 31 HP:0001945
7 anxiety 31 HP:0000739
8 migraine 31 HP:0002076
9 psychosis 31 HP:0000709
10 cerebellar atrophy 31 HP:0001272
11 coma 31 HP:0001259
12 hemiparesis 31 HP:0001269
13 hemiplegia 31 HP:0002301
14 confusion 31 HP:0001289
15 auditory hallucinations 31 HP:0008765
16 visual hallucinations 31 HP:0002367
17 drowsiness 31 HP:0002329
18 agitation 31 HP:0000713
19 dyscalculia 31 HP:0002442
20 migraine with aura 31 HP:0002077
21 transient unilateral blurring of vision 31 HP:0001125

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysphasia
migraine
hemiparesis
hemiplegia
confusion
more
Neurologic Behavioral Psychiatric Manifestations:
auditory hallucinations
visual hallucinations
anxiety attacks
paranoid psychosis

Metabolic Features:
fever

Head And Neck Eyes:
hemianopic blurring of vision
nystagmus (may be permanent in 50% of patients)

Clinical features from OMIM®:

141500 (Updated 20-May-2021)

UMLS symptoms related to Migraine, Familial Hemiplegic, 1:


fever; hemiparesis; hemiplegia; cerebellar ataxia; hallucinations, auditory; hallucinations, visual

GenomeRNAi Phenotypes related to Migraine, Familial Hemiplegic, 1 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.44 ATP1A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.44 SLC6A4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.44 SLC6A4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.44 NCS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.44 ATP1A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.44 SLC6A4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.44 SLC1A7
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.44 ATP1A2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.44 SLC6A4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-51 9.44 SLC1A7
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.44 SLC1A7
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.44 NCS1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 9.44 SLC6A4

MGI Mouse Phenotypes related to Migraine, Familial Hemiplegic, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ATP1A2 CACNA1A CACNA1B CACNA1E CAV2 NCS1
2 mortality/aging MP:0010768 9.97 ATP1A2 CACNA1A CACNA1B CTU2 MPEG1 NCS1
3 muscle MP:0005369 9.5 ATP1A2 CACNA1A CAV2 PRRT2 SLC34A1 SLC6A4
4 nervous system MP:0003631 9.4 ATP1A2 CACNA1A CACNA1B CACNA1E KCNK18 P2RX3

Drugs & Therapeutics for Migraine, Familial Hemiplegic, 1

Drugs for Migraine, Familial Hemiplegic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitroglycerin Approved, Investigational 55-63-0 4510
2
Salmon calcitonin Approved, Investigational 47931-85-1 16129616
3
Calcitonin gene-related peptide Investigational 83652-28-2
4 Katacalcin
5 calcitonin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2 Completed NCT00257985 GTN
2 Calcitonin Gene Related Peptide-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2. Completed NCT00358839 CGRP

Search NIH Clinical Center for Migraine, Familial Hemiplegic, 1

Genetic Tests for Migraine, Familial Hemiplegic, 1

Genetic tests related to Migraine, Familial Hemiplegic, 1:

# Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine Type 1 29 CACNA1A

Anatomical Context for Migraine, Familial Hemiplegic, 1

MalaCards organs/tissues related to Migraine, Familial Hemiplegic, 1:

40
Eye, Brain, Cerebellum, Trigeminal Ganglion, Retina, Skin

Publications for Migraine, Familial Hemiplegic, 1

Articles related to Migraine, Familial Hemiplegic, 1:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. 6 57
12056940 2002
2
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. 6 57
9915947 1999
3
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 6 57
8898206 1996
4
Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG. 57 6
8734765 1996
5
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. 61 6
19586927 2009
6
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. 57 61
19104150 2009
7
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. 6 61
18400034 2008
8
Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. 6 61
15795222 2005
9
De novo mutations in epileptic encephalopathies. 6
23934111 2013
10
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 57
20837964 2010
11
Calcitonin gene-related peptide does not cause the familial hemiplegic migraine phenotype. 57
18779512 2008
12
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. 6
18313928 2008
13
1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1. 57
15728280 2005
14
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. 6
15452324 2004
15
A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. 57
15003170 2004
16
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. 6
12756131 2003
17
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 6
12707077 2003
18
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. 6
11409427 2001
19
Missense CACNA1A mutation causing episodic ataxia type 2. 6
11176968 2001
20
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. 6
11061267 2000
21
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 6
10987655 1999
22
Genetic heterogeneity in Italian families with familial hemiplegic migraine. 6
10408532 1999
23
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. 6
10408534 1999
24
Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis. 57
10202246 1999
25
Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine. 57
9708761 1998
26
Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine. 57
8786108 1996
27
Exocytotic Ca2+ channels in mammalian central neurons. 6
7537420 1995
28
Familial hemiplegic migraine versus migraine with prolonged aura: an uncertain diagnosis in a family report. 57
7824130 1995
29
Genetic heterogeneity of familial hemiplegic migraine. 57
7977376 1994
30
Familial migraine: exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p. 57
7851903 1994
31
Genetic heterogeneity of familial hemiplegic migraine. 57
7959770 1994
32
A gene for familial hemiplegic migraine maps to chromosome 19. 57
8220421 1993
33
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. 57
8485581 1993
34
Prevalence of migraine headache in the United States. Relation to age, income, race, and other sociodemographic factors. 57
1727198 1992
35
Familial migraine coma: a case study. 57
2319269 1990
36
Familial hemiplegic migraine. 57
1127995 1975
37
[Familial hemiplegic migraine associated with nystagmus]. 57
5159359 1971
38
Familial hemiplegic migraine, retinal degeneration, deafness, and nystagmus. 57
5311627 1970
39
Familial occurrence of migraine with a hemiplegic syndrome and cerebellar manifestations. 57
15088544 1967
40
HEMIPLEGIC MIGRAINE, A CLINICAL STUDY. 57
14252427 1965
41
Familial hemiplegic migraine. 57
13854572 1960
42
Familial hemiplegic migraine. 57
13272341 1955
43
On Recurrent Motor Paralysis in Migraine, with Report of a Family in which Recurrent Hemiplegia Accompanied the Attacks. 57
20765161 1910
44
Responsivity to light in familial hemiplegic migraine type 1 mutant mice reveals frequency-dependent enhancement of visual network excitability. 61
33170971 2021
45
The electrophysiological footprint of CACNA1A disorders. 61
33544220 2021
46
From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing. 61
33737904 2021
47
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant. 61
32336275 2020
48
No Gastrointestinal Dysmotility in Transgenic Mouse Models of Migraine. 61
31876298 2020
49
Enhanced Thalamocortical Synaptic Transmission and Dysregulation of the Excitatory-Inhibitory Balance at the Thalamocortical Feedforward Inhibitory Microcircuit in a Genetic Mouse Model of Migraine. 61
31645463 2019
50
Basal astrocyte and microglia activation in the central nervous system of Familial Hemiplegic Migraine Type I mice. 61
31260335 2019

Variations for Migraine, Familial Hemiplegic, 1

ClinVar genetic disease variations for Migraine, Familial Hemiplegic, 1:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1A NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) SNV Pathogenic 8487 rs121908211 GRCh37: 19:13482558-13482558
GRCh38: 19:13371744-13371744
2 CACNA1A NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) SNV Pathogenic 8489 rs121908213 GRCh37: 19:13414394-13414394
GRCh38: 19:13303580-13303580
3 CACNA1A NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) SNV Pathogenic 8490 rs121908214 GRCh37: 19:13340999-13340999
GRCh38: 19:13230185-13230185
4 CACNA1A NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu) SNV Pathogenic 8497 rs121908218 GRCh37: 19:13414390-13414390
GRCh38: 19:13303576-13303576
5 CACNA1A NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) SNV Pathogenic 8499 rs121908219 GRCh37: 19:13372366-13372366
GRCh38: 19:13261552-13261552
6 CACNA1A NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) SNV Pathogenic 8503 rs121908237 GRCh37: 19:13370403-13370403
GRCh38: 19:13259589-13259589
7 CACNA1A NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) SNV Pathogenic 68433 rs121908220 GRCh37: 19:13346499-13346499
GRCh38: 19:13235685-13235685
8 CACNA1A NM_001127222.2(CACNA1A):c.4494_4496CTT[2] (p.Phe1501del) Microsatellite Pathogenic 279951 rs886041279 GRCh37: 19:13368252-13368254
GRCh38: 19:13257438-13257440
9 CACNA1A NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) SNV Pathogenic 8513 rs121908230 GRCh37: 19:13373603-13373603
GRCh38: 19:13262789-13262789
10 CACNA1A NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) SNV Pathogenic 8488 rs121908212 GRCh37: 19:13414691-13414691
GRCh38: 19:13303877-13303877
11 CACNA1A NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) SNV Pathogenic 8504 rs121908225 GRCh37: 19:13476262-13476262
GRCh38: 19:13365448-13365448
12 CACNA1A NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) SNV Pathogenic 8505 rs121908217 GRCh37: 19:13419266-13419266
GRCh38: 19:13308452-13308452
13 CACNA1A NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) SNV Pathogenic 8505 rs121908217 GRCh37: 19:13419266-13419266
GRCh38: 19:13308452-13308452
14 CACNA1A NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) SNV Pathogenic 8510 rs121909326 GRCh37: 19:13346033-13346033
GRCh38: 19:13235219-13235219
15 CACNA1A NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) SNV Pathogenic 8507 rs121909324 GRCh37: 19:13366031-13366031
GRCh38: 19:13255217-13255217
16 CACNA1A NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) SNV Pathogenic 254268 GRCh37: 19:13414398-13414398
GRCh38: 19:13303584-13303584
17 CACNA1A and overlap with 1 gene(s) NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del Deletion Pathogenic 8520 GRCh37: 19:13317256-13335480
GRCh38: 19:13206442-13224666
18 CACNA1A NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) SNV Pathogenic 995995 GRCh37: 19:13419004-13419004
GRCh38: 19:13308190-13308190
19 CACNA1A NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) SNV Pathogenic 380972 rs1057520918 GRCh37: 19:13373594-13373594
GRCh38: 19:13262780-13262780
20 CACNA1A NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) SNV Likely pathogenic 992630 GRCh37: 19:13373610-13373610
GRCh38: 19:13262796-13262796
21 CACNA1A NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) SNV Likely pathogenic 195935 rs794727411 GRCh37: 19:13372340-13372340
GRCh38: 19:13261526-13261526
22 CACNA1A NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) SNV Likely pathogenic 195935 rs794727411 GRCh37: 19:13372340-13372340
GRCh38: 19:13261526-13261526
23 CACNA1A NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe) SNV Likely pathogenic 437417 rs1555767914 GRCh37: 19:13446642-13446642
GRCh38: 19:13335828-13335828
24 CACNA1A NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) SNV Likely pathogenic 931418 GRCh37: 19:13395943-13395943
GRCh38: 19:13285129-13285129
25 CACNA1A NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) SNV Uncertain significance 931618 GRCh37: 19:13409643-13409643
GRCh38: 19:13298829-13298829
26 CACNA1A NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro) SNV Uncertain significance 931816 GRCh37: 19:13319703-13319703
GRCh38: 19:13208889-13208889
27 CACNA1A NM_001127222.2(CACNA1A):c.4089+18T>G SNV Uncertain significance 931950 GRCh37: 19:13373530-13373530
GRCh38: 19:13262716-13262716
28 CACNA1A NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) SNV Uncertain significance 931951 GRCh37: 19:13445224-13445224
GRCh38: 19:13334410-13334410
29 CACNA1A NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) SNV Uncertain significance 383881 rs1057521770 GRCh37: 19:13319742-13319742
GRCh38: 19:13208928-13208928
30 CACNA1A NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) SNV Uncertain significance 421988 rs375354077 GRCh37: 19:13320147-13320147
GRCh38: 19:13209333-13209333
31 CACNA1A NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) SNV Uncertain significance 421928 rs554393704 GRCh37: 19:13320186-13320186
GRCh38: 19:13209372-13209372
32 CACNA1A NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) SNV Uncertain significance 446939 rs750077868 GRCh37: 19:13320221-13320221
GRCh38: 19:13209407-13209407
33 CACNA1A NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) SNV Uncertain significance 386521 rs563345694 GRCh37: 19:13323262-13323262
GRCh38: 19:13212448-13212448
34 CACNA1A NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) SNV Uncertain significance 432567 rs201269793 GRCh37: 19:13395940-13395940
GRCh38: 19:13285126-13285126
35 CACNA1A NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) SNV Uncertain significance 430288 rs200333359 GRCh37: 19:13397460-13397460
GRCh38: 19:13286646-13286646
36 CACNA1A NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) SNV Uncertain significance 453002 rs748418783 GRCh37: 19:13409523-13409523
GRCh38: 19:13298709-13298709
37 CACNA1A NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) SNV Uncertain significance 446913 rs1383144531 GRCh37: 19:13409557-13409557
GRCh38: 19:13298743-13298743
38 CACNA1A NM_001127222.2(CACNA1A):c.2105-15C>T SNV Uncertain significance 451872 rs190471428 GRCh37: 19:13414442-13414442
GRCh38: 19:13303628-13303628
39 CACNA1A NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) SNV Uncertain significance 210556 rs797045424 GRCh37: 19:13482540-13482540
GRCh38: 19:13371726-13371726
40 CACNA1A NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val) SNV Uncertain significance 560966 rs1568574634 GRCh37: 19:13476226-13476226
GRCh38: 19:13365412-13365412
41 CACNA1A NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile) SNV Uncertain significance 930351 GRCh37: 19:13386752-13386752
GRCh38: 19:13275938-13275938
42 CACNA1A NM_001127222.2(CACNA1A):c.1555+3_1555+6del Deletion Uncertain significance 931379 GRCh37: 19:13427920-13427923
GRCh38: 19:13317106-13317109
43 CACNA1A NM_001127222.2(CACNA1A):c.4103G>C (p.Cys1368Ser) SNV Uncertain significance 976099 GRCh37: 19:13372411-13372411
GRCh38: 19:13261597-13261597
44 CACNA1A NM_001127222.2(CACNA1A):c.3692+1G>A SNV Uncertain significance 585567 rs1315533129 GRCh37: 19:13395881-13395881
GRCh38: 19:13285067-13285067
45 CACNA1A NM_001127222.2(CACNA1A):c.3989+11T>C SNV Likely benign 388053 rs762686149 GRCh37: 19:13386653-13386653
GRCh38: 19:13275839-13275839
46 CACNA1A NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) SNV Benign 68426 rs16022 GRCh37: 19:13409696-13409696
GRCh38: 19:13298882-13298882
47 CACNA1A NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) SNV Benign 128556 rs41276894 GRCh37: 19:13482554-13482554
GRCh38: 19:13371740-13371740
48 CACNA1A NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) SNV Benign 128554 rs1800039 GRCh37: 19:13563767-13563767
GRCh38: 19:13452953-13452953
49 CACNA1A NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) SNV Benign 128560 rs16006 GRCh37: 19:13470522-13470522
GRCh38: 19:13359708-13359708
50 CACNA1A NM_001127222.2(CACNA1A):c.1345+7C>T SNV Benign 257507 rs192536793 GRCh37: 19:13441051-13441051
GRCh38: 19:13330237-13330237

UniProtKB/Swiss-Prot genetic disease variations for Migraine, Familial Hemiplegic, 1:

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Arg192Gln VAR_001491 rs121908211
2 CACNA1A p.Thr665Met VAR_001492 rs121908212
3 CACNA1A p.Val713Ala VAR_001493 rs121908213
4 CACNA1A p.Ile1809Leu VAR_001494 rs121908214
5 CACNA1A p.Arg195Lys VAR_043820 rs121908222
6 CACNA1A p.Ser218Leu VAR_043821 rs121908225
7 CACNA1A p.Arg582Gln VAR_043826 rs121908217
8 CACNA1A p.Asp714Glu VAR_043827 rs121908218
9 CACNA1A p.Lys1334Glu VAR_043829 rs121908223
10 CACNA1A p.Arg1345Gln VAR_043830 rs121908230
11 CACNA1A p.Tyr1383Cys VAR_043831 rs121908219
12 CACNA1A p.Val1455Leu VAR_043833 rs121908237
13 CACNA1A p.Arg1666Trp VAR_043838 rs121908220
14 CACNA1A p.Trp1682Arg VAR_043839 rs121908221
15 CACNA1A p.Val1694Ile VAR_063706 rs121908224

Expression for Migraine, Familial Hemiplegic, 1

Search GEO for disease gene expression data for Migraine, Familial Hemiplegic, 1.

Pathways for Migraine, Familial Hemiplegic, 1

GO Terms for Migraine, Familial Hemiplegic, 1

Cellular components related to Migraine, Familial Hemiplegic, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 TSPAN16 SLC6A4 SLC6A1 SLC5A1 SLC34A1 SLC1A7
2 plasma membrane GO:0005886 10.16 SLC6A4 SLC6A1 SLC5A1 SLC34A1 SLC1A7 SLC1A3
3 integral component of plasma membrane GO:0005887 10.02 TSPAN16 SLC6A4 SLC6A1 SLC5A1 SLC34A1 SLC1A3
4 neuron projection GO:0043005 9.89 SLC6A4 SLC6A1 SLC1A3 P2RX3 ATP1A2
5 axon GO:0030424 9.88 SLC6A1 SCN1A PRRT2 P2RX3 NCS1
6 neuronal cell body GO:0043025 9.88 SLC6A1 SLC1A3 SCN1A P2RX3 CACNA1A ATP1A2
7 membrane raft GO:0045121 9.81 SLC6A4 SLC34A1 P2RX3 CAV2
8 synapse GO:0045202 9.81 SLC6A4 SLC6A1 SLC1A3 PRRT2 NCS1 CACNA1E
9 integral component of presynaptic membrane GO:0099056 9.63 SLC6A4 SLC6A1 P2RX3
10 voltage-gated calcium channel complex GO:0005891 9.61 CACNA1E CACNA1B CACNA1A
11 integral component of membrane GO:0016021 9.55 TSPAN16 SLC6A4 SLC6A1 SLC5A1 SLC34A1 SLC1A7
12 presynapse GO:0098793 9.43 SLC6A4 SLC6A1 SLC1A7 PRRT2 CACNA1B CACNA1A

Biological processes related to Migraine, Familial Hemiplegic, 1 according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.91 SCN1A P2RX3 CACNA1A ATP1A2
2 regulation of ion transmembrane transport GO:0034765 9.83 SCN1A CACNA1E CACNA1B CACNA1A
3 calcium ion transmembrane transport GO:0070588 9.81 NCS1 CACNA1E CACNA1B CACNA1A
4 sodium ion transport GO:0006814 9.8 SLC5A1 SLC34A1 SCN1A ATP1A2
5 response to estradiol GO:0032355 9.79 SLC6A4 SLC6A1 SLC34A1
6 chloride transmembrane transport GO:1902476 9.75 SLC6A1 SLC5A1 SLC1A3
7 chemical synaptic transmission GO:0007268 9.73 SLC6A1 SLC1A3 P2RX3 CACNA1E CACNA1B CACNA1A
8 response to organic substance GO:0010033 9.72 SLC6A4 SLC6A1 P2RX3
9 modulation of chemical synaptic transmission GO:0050804 9.71 P2RX3 CACNA1B CACNA1A
10 cation transmembrane transport GO:0098655 9.71 SCN1A P2RX3 CACNA1A ATP1A2
11 calcium ion import GO:0070509 9.65 CACNA1E CACNA1B CACNA1A
12 membrane depolarization GO:0051899 9.63 CACNA1E CACNA1B CACNA1A
13 response to lead ion GO:0010288 9.62 SLC6A1 SLC34A1
14 cellular sodium ion homeostasis GO:0006883 9.62 SLC1A3 ATP1A2
15 sodium ion import across plasma membrane GO:0098719 9.61 SLC6A1 SLC5A1 SLC34A1
16 transmembrane transport GO:0055085 9.61 SLC6A4 SLC6A1 SLC5A1 SLC1A7 SLC1A3 SCN1A
17 L-glutamate transmembrane transport GO:0015813 9.6 SLC1A7 SLC1A3
18 response to amyloid-beta GO:1904645 9.59 CACNA1B CACNA1A
19 response to inorganic substance GO:0010035 9.58 SLC6A1 SLC5A1
20 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 9.57 NCS1 CACNA1A
21 neuromuscular process controlling posture GO:0050884 9.56 SCN1A PRRT2
22 sodium ion transmembrane transport GO:0035725 9.55 SLC6A4 SLC6A1 SLC34A1 SCN1A ATP1A2
23 neurotransmitter uptake GO:0001504 9.54 SLC1A7 SLC1A3 ATP1A2
24 neurotransmitter reuptake GO:0098810 9.5 SLC6A4 SLC6A1 SLC1A7
25 ion transport GO:0006811 9.36 SLC5A1 SLC34A1 SLC1A7 SLC1A3 SCN1A P2RX3

Molecular functions related to Migraine, Familial Hemiplegic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.61 CACNA1E CACNA1B CACNA1A
2 voltage-gated ion channel activity GO:0005244 9.56 SCN1A CACNA1E CACNA1B CACNA1A
3 ion channel activity GO:0005216 9.55 SCN1A P2RX3 CACNA1E CACNA1B CACNA1A
4 cation channel activity GO:0005261 9.5 SCN1A CACNA1B CACNA1A
5 L-glutamate transmembrane transporter activity GO:0005313 9.4 SLC1A7 SLC1A3
6 high voltage-gated calcium channel activity GO:0008331 9.37 CACNA1B CACNA1A
7 voltage-gated calcium channel activity GO:0005245 9.26 NCS1 CACNA1E CACNA1B CACNA1A
8 symporter activity GO:0015293 9.1 SLC6A4 SLC6A1 SLC5A1 SLC34A1 SLC1A7 SLC1A3

Sources for Migraine, Familial Hemiplegic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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