FHM3
MCID: MGR031
MIFTS: 47

Migraine, Familial Hemiplegic, 3 (FHM3)

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

Aliases & Classifications for Migraine, Familial Hemiplegic, 3

MalaCards integrated aliases for Migraine, Familial Hemiplegic, 3:

Name: Migraine, Familial Hemiplegic, 3 57 72 13 70
Fhm3 57 12 72
Familial Hemiplegic Migraine Type 3 29 6
Familial Hemiplegic Migraine 3 12 15
Mhp3 12 72
Migraine, Hemiplegic, Familial, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in first 2 decades (range 6 to 15 years)
variable frequency and duration of episodes
blindness episodes are not associated with fhm episodes
genetic heterogeneity, see fhm1
allelic disorder to generalized epilepsy with seizures-plus (gefs+, )


HPO:

31
migraine, familial hemiplegic, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111183
OMIM® 57 609634
OMIM Phenotypic Series 57 PS141500
MeSH 44 D020325
MedGen 41 C1864987
UMLS 70 C1864987

Summaries for Migraine, Familial Hemiplegic, 3

UniProtKB/Swiss-Prot : 72 Migraine, familial hemiplegic, 3: A subtype of migraine associated with transient blindness 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. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine 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, 3, also known as fhm3, is related to hemiplegia and migraine, familial hemiplegic, 1, and has symptoms including photophobia, hemiparesis and hemiplegia. An important gene associated with Migraine, Familial Hemiplegic, 3 is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Related phenotypes are blindness and photophobia

Disease Ontology : 12 A familial hemiplegic migraine that has material basis in heterozygous mutation in SCN1A on 2q24.3.

OMIM® : 57 Familial hemiplegic migraine-3 (FHM3) is a severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks (Dichgans et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of FHM, see FHM1 (141500). (609634) (Updated 05-Apr-2021)

Related Diseases for Migraine, Familial Hemiplegic, 3

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

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 hemiplegia 30.1 SLC1A3 SCN1A CACNA1A ATP1A2
2 migraine, familial hemiplegic, 1 29.5 SLC1A3 SCN1A PRRT2 KCNK18 KCNA1 CACNA1A
3 migraine, familial hemiplegic, 2 29.5 SLC1A3 SCN1A PRRT2 MTDH KCNK18 CACNA1A
4 migraine with aura 29.2 SLC1A3 SCN1A PRRT2 KCNK18 KCNA1 CPQ
5 migraine with or without aura 1 29.1 SLC4A4 SLC1A3 SCN9A SCN4A SCN3A SCN2A
6 familial hemiplegic migraine 29.0 SLC1A3 SCN5A SCN1A PRRT2 LOC102724058 KCNK18
7 megalencephaly, autosomal dominant 10.4 SCN1A LOC102724058
8 myoclonic epilepsy of infancy 10.4 SCN1A LOC102724058
9 scn1a seizure disorders 10.4 SCN1A LOC102724058
10 plagiocephaly 10.3 SCN1A LOC102724058
11 central nervous system origin vertigo 10.3 SCN2A CACNA1A
12 generalized epilepsy with febrile seizures plus, type 1 10.3 SCN1A LOC102724058
13 developmental and epileptic encephalopathy 13 10.3 SCN2A SCN1A
14 seizures, benign familial infantile, 3 10.3 SCN2A ATP1A2
15 febrile seizures, familial, 5 10.3 SCN2A SCN1A
16 reflex epilepsy 10.3 SCN2A SCN1A
17 sporadic hemiplegic migraine 10.3 SCN1A CACNA1A ATP1A2
18 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.3 SCN2A PRRT2
19 febrile seizures, familial, 2 10.3 SCN2A SCN1A
20 neuronal migration disorders 10.3 SCN1A LOC102724058 ATP1A2
21 early onset absence epilepsy 10.3 SCN2A SCN1A
22 torticollis 10.3 PRRT2 CACNA1A
23 adolescence-adult electroclinical syndrome 10.2 SCN2A SCN1A CACNA1A
24 malignant migrating partial seizures of infancy 10.2 SCN2A SCN1A LOC102724058
25 photosensitive epilepsy 10.2 SCN2A SCN1A CACNA1A
26 generalized epilepsy with febrile seizures plus, type 2 10.2 SCN9A SCN1A LOC102724058
27 childhood electroclinical syndrome 10.2 SCN2A SCN1A CACNA1A
28 generalized epilepsy with febrile seizures plus, type 7 10.2 SCN9A SCN1A LOC102724058
29 headache 10.2 SCN1A CACNA1A ATP1A2
30 epilepsy, familial temporal lobe, 5 10.2 SCN9A SCN1A
31 leukoencephalopathy, hereditary diffuse, with spheroids 10.2 SLC1A3 SCN1A LOC102724058
32 febrile seizures, familial, 1 10.2 SCN9A SCN2A SCN1A
33 episodic ataxia, type 6 10.2 SLC1A3 CACNA1A
34 benign neonatal seizures 10.2 SCN2A SCN1A KCNA1
35 epilepsy, nocturnal frontal lobe, 1 10.2 SCN1A KCNA1
36 coffin-siris syndrome 4 10.2 SCN9A SCN2A
37 low-grade astrocytoma 10.2 SCN3A SCN2A SCN1A
38 landau-kleffner syndrome 10.2 SCN2A SCN1A
39 migraine without aura 10.2 SCN1A KCNK18 CACNA1A ATP1A2
40 genetic epilepsy with febrile seizures plus 10.1 SCN9A SCN2A SCN1A LOC102724058
41 spinocerebellar ataxia 6 10.1 SCN1A KCNA1 CACNA1A ATP1A2
42 episodic ataxia, type 2 10.1 SCN1A KCNA1 CACNA1A ATP1A2
43 somatoform disorder 10.1 SCN9A SCN3A SCN1A
44 benign familial neonatal epilepsy 10.1 SCN2A SCN1A PRRT2 KCNA1
45 alzheimer disease 9 10.1 SCN1A KCNA1
46 episodic ataxia, type 3 10.1 CPQ CACNA1A
47 hereditary episodic ataxia 10.1 SLC1A3 SCN2A KCNA1 CACNA1A
48 polymicrogyria 10.1 SCN3A SCN1A LOC102724058 ATP1A2
49 hemimegalencephaly 10.1 SCN1A LOC102724058
50 partial motor epilepsy 10.1 SCN2A SCN1A KCNV2

Graphical network of the top 20 diseases related to Migraine, Familial Hemiplegic, 3:



Diseases related to Migraine, Familial Hemiplegic, 3

Symptoms & Phenotypes for Migraine, Familial Hemiplegic, 3

Human phenotypes related to Migraine, Familial Hemiplegic, 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 photophobia 31 HP:0000613
3 hemiparesis 31 HP:0001269
4 hemiplegia 31 HP:0002301
5 migraine with aura 31 HP:0002077
6 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
elicited repetitive daily blindness (erdb)
transient blindness (elicited by light, sudden standing, or direct pressure on the eyelid) lasting 3 to 10 seconds
absent pupillary reflexes during blindness episodes
normal retinal and pupillary reflexes between episodes

Neurologic Central Nervous System:
migraine
hemiparesis
hemiplegia
migraine with aura
seizure (in a subset of patients in infancy)

Clinical features from OMIM®:

609634 (Updated 05-Apr-2021)

UMLS symptoms related to Migraine, Familial Hemiplegic, 3:


photophobia; hemiparesis; hemiplegia

MGI Mouse Phenotypes related to Migraine, Familial Hemiplegic, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ATP1A2 CACNA1A KCNA1 NAXE PRRT2 SCN1A
2 homeostasis/metabolism MP:0005376 10.07 ATP1A2 CACNA1A KCNA1 KCNV2 MTDH NAXE
3 muscle MP:0005369 9.76 ATP1A2 CACNA1A KCNA1 PRRT2 SCN3B SCN4A
4 nervous system MP:0003631 9.73 ATP1A2 CACNA1A KCNA1 KCNK18 KCNV2 PRRT2
5 normal MP:0002873 9.23 ATP1A2 CACNA1A KCNV2 MTDH SCN1A SCN3A

Drugs & Therapeutics for Migraine, Familial Hemiplegic, 3

Search Clinical Trials , NIH Clinical Center for Migraine, Familial Hemiplegic, 3

Genetic Tests for Migraine, Familial Hemiplegic, 3

Genetic tests related to Migraine, Familial Hemiplegic, 3:

# Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine Type 3 29 SCN1A

Anatomical Context for Migraine, Familial Hemiplegic, 3

Publications for Migraine, Familial Hemiplegic, 3

Articles related to Migraine, Familial Hemiplegic, 3:

(show all 29)
# Title Authors PMID Year
1
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 57 6
19332696 2009
2
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. 6 57
16054936 2005
3
Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy. 6 57
15277634 2004
4
Another migraine gene. 57
16054921 2005
5
First FHM3 mouse model shows spontaneous cortical spreading depolarizations. 61
31880072 2020
6
Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene. 61
31730442 2019
7
Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report. 61
30498473 2018
8
A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. 61
27919014 2017
9
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. 61
26763045 2016
10
Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley. 61
24646837 2014
11
Linking a genetic defect in migraine to spreading depression in a computational model. 61
24860703 2014
12
Migraine genetics: Part II. 61
23919895 2013
13
[Genetics of migraine]. 61
23618705 2013
14
Detection of a novel mutation in the CACNA1A gene. 61
22784462 2012
15
Head tremor related to CACNA1A mutations. 61
21768184 2011
16
The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine. 61
21533730 2011
17
Biological science of headache channels. 61
20816411 2010
18
FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2. 61
19007941 2009
19
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism. 61
19154521 2009
20
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. 61
18644040 2008
21
Divergent sodium channel defects in familial hemiplegic migraine. 61
18621678 2008
22
Genetics of migraine: an update with special attention to genetic comorbidity. 61
18451712 2008
23
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. 61
18021921 2007
24
Migraine: gene mutations and functional consequences. 61
17495624 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
17397047 2007
26
Familial hemiplegic migraine. 61
17395138 2007
27
The genetic spectrum of a population-based sample of familial hemiplegic migraine. 61
17142831 2007
28
[Genetics of migraine]. 61
16915377 2006
29
Familial Hemiplegic Migraine 61
20301562 2001

Variations for Migraine, Familial Hemiplegic, 3

ClinVar genetic disease variations for Migraine, Familial Hemiplegic, 3:

6 (show top 50) (show all 152)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys) SNV Pathogenic 12893 rs121918628 GRCh37: 2:166854559-166854559
GRCh38: 2:165998049-165998049
2 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His) SNV Pathogenic 12903 rs121918633 GRCh37: 2:166854557-166854557
GRCh38: 2:165998047-165998047
3 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His) SNV Pathogenic 930321 GRCh37: 2:166848444-166848444
GRCh38: 2:165991934-165991934
4 SCN1A NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter) SNV Pathogenic 930758 GRCh37: 2:166900379-166900379
GRCh38: 2:166043869-166043869
5 SCN1A NM_001165963.4(SCN1A):c.1028+2T>C SNV Pathogenic 932130 GRCh37: 2:166905394-166905394
GRCh38: 2:166048884-166048884
6 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile) SNV Pathogenic 931824 GRCh37: 2:166850736-166850736
GRCh38: 2:165994226-165994226
7 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) SNV Pathogenic 68558 rs121917976 GRCh37: 2:166848851-166848851
GRCh38: 2:165992341-165992341
8 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) SNV Pathogenic 206837 rs139300715 GRCh37: 2:166852557-166852557
GRCh38: 2:165996047-165996047
9 SCN1A NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) SNV Pathogenic 189869 rs794726718 GRCh37: 2:166894440-166894440
GRCh38: 2:166037930-166037930
10 SCN1A NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) SNV Pathogenic 68578 rs121917984 GRCh37: 2:166909379-166909379
GRCh38: 2:166052869-166052869
11 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) SNV Pathogenic 68551 rs121917975 GRCh37: 2:166850875-166850875
GRCh38: 2:165994365-165994365
12 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) SNV Pathogenic 68558 rs121917976 GRCh37: 2:166848851-166848851
GRCh38: 2:165992341-165992341
13 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) SNV Pathogenic 12902 rs121918632 GRCh37: 2:166852609-166852609
GRCh38: 2:165996099-165996099
14 SCN1A NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) SNV Pathogenic 265254 rs886039430 GRCh37: 2:166900520-166900520
GRCh38: 2:166044010-166044010
15 SCN1A NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) SNV Pathogenic 265254 rs886039430 GRCh37: 2:166900520-166900520
GRCh38: 2:166044010-166044010
16 SCN1A NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) SNV Pathogenic 68527 rs121917965 GRCh37: 2:166915162-166915162
GRCh38: 2:166058652-166058652
17 SCN1A NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) SNV Pathogenic 93635 rs398123585 GRCh37: 2:166900385-166900385
GRCh38: 2:166043875-166043875
18 SCN1A NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) SNV Pathogenic 12889 rs121918624 GRCh37: 2:166909392-166909392
GRCh38: 2:166052882-166052882
19 SCN1A NM_006920.6(SCN1A):c.602+1G>A SNV Pathogenic 197187 GRCh37: 2:166911147-166911147
GRCh38: 2:166054637-166054637
20 SCN1A NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) SNV Pathogenic 68528 rs121917918 GRCh37: 2:166915161-166915161
GRCh38: 2:166058651-166058651
21 SCN1A NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) SNV Likely pathogenic 68506 rs121917927 GRCh37: 2:166903479-166903479
GRCh38: 2:166046969-166046969
22 SCN1A NM_006920.6(SCN1A):c.264+5G>A SNV Likely pathogenic 217242 rs794726762 GRCh37: 2:166929863-166929863
GRCh38: 2:166073353-166073353
23 SCN1A NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) SNV Likely pathogenic 265297 rs886039456 GRCh37: 2:166909395-166909395
GRCh38: 2:166052885-166052885
24 SCN1A NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) SNV Likely pathogenic 68520 rs121917964 GRCh37: 2:166929881-166929881
GRCh38: 2:166073371-166073371
25 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro) SNV Likely pathogenic 931957 GRCh37: 2:166859247-166859247
GRCh38: 2:166002737-166002737
26 SCN1A NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter) SNV Likely pathogenic 930959 GRCh37: 2:166908252-166908252
GRCh38: 2:166051742-166051742
27 SCN1A NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs) Indel Likely pathogenic 931239 GRCh37: 2:166900299-166900300
GRCh38: 2:166043789-166043790
28 SCN1A NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr) SNV Likely pathogenic 930374 GRCh37: 2:166909376-166909376
GRCh38: 2:166052866-166052866
29 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser) SNV Likely pathogenic 930731 GRCh37: 2:166848797-166848797
GRCh38: 2:165992287-165992287
30 SCN1A , LOC102724058 NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile) SNV Likely pathogenic 689733 rs1131691775 GRCh37: 2:166859133-166859133
GRCh38: 2:166002623-166002623
31 SCN1A NM_001165963.4(SCN1A):c.602+3_602+6del Deletion Likely pathogenic 931569 GRCh37: 2:166911142-166911145
GRCh38: 2:166054632-166054635
32 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) SNV Conflicting interpretations of pathogenicity 68616 rs121918799 GRCh37: 2:166872146-166872146
GRCh38: 2:166015636-166015636
33 SCN1A NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) SNV Uncertain significance 206777 rs752639991 GRCh37: 2:166900340-166900340
GRCh38: 2:166043830-166043830
34 SCN1A NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) SNV Uncertain significance 448247 rs769582667 GRCh37: 2:166929996-166929996
GRCh38: 2:166073486-166073486
35 SCN1A NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln) SNV Uncertain significance 383462 rs777631884 GRCh37: 2:166911190-166911190
GRCh38: 2:166054680-166054680
36 SCN1A NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) SNV Uncertain significance 331894 rs886055046 GRCh37: 2:166911185-166911185
GRCh38: 2:166054675-166054675
37 SCN1A NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) SNV Uncertain significance 206762 rs774937055 GRCh37: 2:166903464-166903464
GRCh38: 2:166046954-166046954
38 SCN1A NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) SNV Uncertain significance 68675 rs121918771 GRCh37: 2:166908303-166908303
GRCh38: 2:166051793-166051793
39 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) SNV Uncertain significance 206875 rs201905405 GRCh37: 2:166848146-166848146
GRCh38: 2:165991636-165991636
40 SCN1A NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) SNV Uncertain significance 193839 rs145670933 GRCh37: 2:166900333-166900333
GRCh38: 2:166043823-166043823
41 SCN1A NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) SNV Uncertain significance 429403 rs370857858 GRCh37: 2:166892941-166892941
GRCh38: 2:166036431-166036431
42 SCN1A NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu) SNV Uncertain significance 893690 GRCh37: 2:166900216-166900216
GRCh38: 2:166043706-166043706
43 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) SNV Uncertain significance 682297 rs779614747 GRCh37: 2:166848129-166848129
GRCh38: 2:165991619-165991619
44 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) SNV Uncertain significance 68671 rs121918802 GRCh37: 2:166847915-166847915
GRCh38: 2:165991405-165991405
45 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) SNV Uncertain significance 68660 rs121918813 GRCh37: 2:166848402-166848402
GRCh38: 2:165991892-165991892
46 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) SNV Uncertain significance 206796 rs796052992 GRCh37: 2:166892889-166892889
GRCh38: 2:166036379-166036379
47 SCN1A NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) SNV Uncertain significance 195131 rs148442069 GRCh37: 2:166915084-166915084
GRCh38: 2:166058574-166058574
48 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) SNV Uncertain significance 461281 rs149315236 GRCh37: 2:166848568-166848568
GRCh38: 2:165992058-165992058
49 SCN1A NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) SNV Uncertain significance 530625 rs139403702 GRCh37: 2:166900419-166900419
GRCh38: 2:166043909-166043909
50 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) SNV Uncertain significance 194721 rs201079458 GRCh37: 2:166872186-166872186
GRCh38: 2:166015676-166015676

UniProtKB/Swiss-Prot genetic disease variations for Migraine, Familial Hemiplegic, 3:

72
# Symbol AA change Variation ID SNP ID
1 SCN1A p.Gln1489Lys VAR_025281 rs121918628
2 SCN1A p.Gln1489His VAR_057996 rs121918633
3 SCN1A p.Phe1499Leu VAR_057997 rs121918632
4 SCN1A p.Thr1174Ser VAR_064309 rs121918799
5 SCN1A p.Leu1649Gln VAR_064322

Expression for Migraine, Familial Hemiplegic, 3

Search GEO for disease gene expression data for Migraine, Familial Hemiplegic, 3.

Pathways for Migraine, Familial Hemiplegic, 3

Pathways related to Migraine, Familial Hemiplegic, 3 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
2
Show member pathways
13.23 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
3
Show member pathways
12.84 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
4
Show member pathways
12.77 SLC1A3 KCNV2 KCNK18 KCNA1 CACNA1A
5
Show member pathways
12.7 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
6
Show member pathways
12.5 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
7 12.42 SLC1A3 SCN9A SCN5A SCN4A SCN2A SCN1A
8
Show member pathways
11.83 SCN9A SCN3A SCN2A CACNA1A
9
Show member pathways
11.8 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
10
Show member pathways
11.78 SLC1A3 CACNA1A ATP1A2
11
Show member pathways
11.37 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
12 10.87 SLC4A4 ATP1A2
13 10.64 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A

GO Terms for Migraine, Familial Hemiplegic, 3

Cellular components related to Migraine, Familial Hemiplegic, 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 SLC4A4 SLC1A3 SCN9A SCN5A SCN4A SCN3B
2 plasma membrane GO:0005886 10.24 SLC4A4 SLC1A3 SCN9A SCN5A SCN4A SCN3B
3 integral component of membrane GO:0016021 10.06 SLC4A4 SLC1A3 SCN9A SCN5A SCN4A SCN3B
4 integral component of plasma membrane GO:0005887 10.04 SLC4A4 SLC1A3 SCN9A SCN4A SCN2A KCNK18
5 cell projection GO:0042995 10.02 SLC1A3 SCN9A PRRT2 KCNA1 CACNA1A ATP1A2
6 neuronal cell body GO:0043025 9.83 SLC1A3 SCN1A KCNA1 CACNA1A ATP1A2
7 Z disc GO:0030018 9.71 SCN5A SCN3B SCN1A
8 intercalated disc GO:0014704 9.62 SCN5A SCN2A SCN1A ATP1A2
9 T-tubule GO:0030315 9.56 SCN5A SCN2A SCN1A ATP1A2
10 axon initial segment GO:0043194 9.52 SCN1A NAV1
11 node of Ranvier GO:0033268 9.51 SCN2A SCN1A
12 axon GO:0030424 9.5 SCN9A SCN4A SCN3A SCN2A SCN1A PRRT2
13 paranode region of axon GO:0033270 9.48 SCN2A KCNA1
14 sodium channel complex GO:0034706 9.46 SCN2A SCN1A
15 voltage-gated sodium channel complex GO:0001518 9.17 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A

Biological processes related to Migraine, Familial Hemiplegic, 3 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.17 SLC4A4 SLC1A3 SCN9A SCN5A SCN4A SCN3A
2 ion transmembrane transport GO:0034220 10.06 SCN9A SCN5A SCN3B SCN3A SCN2A SCN1A
3 sodium ion transport GO:0006814 10.02 SLC4A4 SCN9A SCN5A SCN4A SCN3B SCN3A
4 cation transmembrane transport GO:0098655 9.95 SCN9A SCN5A SCN3A SCN2A SCN1A CACNA1A
5 potassium ion transmembrane transport GO:0071805 9.88 SLC1A3 KCNV2 KCNK18 KCNA1 ATP1A2
6 neuronal action potential GO:0019228 9.87 SCN9A SCN5A SCN4A SCN3A SCN2A SCN1A
7 potassium ion transport GO:0006813 9.84 KCNV2 KCNK18 KCNA1 ATP1A2
8 sodium ion transmembrane transport GO:0035725 9.81 SLC4A4 SCN9A SCN5A SCN4A SCN3B SCN3A
9 regulation of membrane potential GO:0042391 9.8 SLC4A4 SCN1A KCNA1
10 membrane depolarization during action potential GO:0086010 9.8 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
11 cardiac muscle contraction GO:0060048 9.72 SCN5A SCN3B ATP1A2
12 membrane depolarization GO:0051899 9.7 SCN5A SCN3B CACNA1A
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.69 SCN5A SCN3B SCN1A
14 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 SCN5A SCN3B ATP1A2
15 regulation of ion transmembrane transport GO:0034765 9.65 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
16 cellular sodium ion homeostasis GO:0006883 9.64 SLC1A3 ATP1A2
17 regulation of muscle contraction GO:0006937 9.64 KCNA1 ATP1A2
18 ventricular cardiac muscle cell action potential GO:0086005 9.63 SCN5A SCN3B
19 positive regulation of sodium ion transport GO:0010765 9.62 SCN5A SCN3B
20 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.62 SCN1A KCNA1
21 sodium ion export across plasma membrane GO:0036376 9.61 SLC4A4 ATP1A2
22 regulation of cardiac muscle cell contraction GO:0086004 9.61 SCN5A ATP1A2
23 neuromuscular process controlling posture GO:0050884 9.6 SCN1A PRRT2
24 neurotransmitter uptake GO:0001504 9.59 SLC1A3 ATP1A2
25 atrial cardiac muscle cell action potential GO:0086014 9.58 SCN5A SCN3B
26 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.58 SCN5A SCN3B
27 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.57 SCN5A SCN3B
28 SA node cell action potential GO:0086015 9.56 SCN5A SCN3B
29 ion transport GO:0006811 9.47 SLC4A4 SLC1A3 SCN9A SCN5A SCN4A SCN3B

Molecular functions related to Migraine, Familial Hemiplegic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.87 SCN9A SCN5A SCN4A SCN3A SCN2A SCN1A
2 ion channel activity GO:0005216 9.81 SCN9A SCN5A SCN4A SCN3A SCN2A SCN1A
3 voltage-gated sodium channel activity GO:0005248 9.73 SCN9A SCN5A SCN4A SCN3A SCN2A SCN1A
4 potassium channel activity GO:0005267 9.61 KCNV2 KCNK18 KCNA1
5 sodium channel activity GO:0005272 9.5 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A
6 sodium ion binding GO:0031402 9.4 SCN9A ATP1A2
7 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.37 SCN5A SCN3B
8 voltage-gated ion channel activity GO:0005244 9.32 SCN9A SCN5A SCN4A SCN3B SCN3A SCN2A

Sources for Migraine, Familial Hemiplegic, 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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