FHM3
MCID: MGR031
MIFTS: 24

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 53 75 13 73
Familial Hemiplegic Migraine Type 3 53 29 6
Fhm3 57 53 75
Mhp3 53 75
Migraine, Hemiplegic, Familial, Type 3 40
Hemiplegic Migraine, Familial Type 3 53

Characteristics:

OMIM:

57
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:

32
migraine, familial hemiplegic, 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Migraine, Familial Hemiplegic, 3

NIH Rare Diseases : 53 Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. Treatment varies depending on signs and symptoms and may include use of anti migraine or anti seizure medications.

MalaCards based summary : Migraine, Familial Hemiplegic, 3, also known as familial hemiplegic migraine type 3, is related to familial hemiplegic migraine and migraine with or without aura 1, and has symptoms including photophobia, hemiplegia and hemiparesis. An important gene associated with Migraine, Familial Hemiplegic, 3 is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). Affiliated tissues include eye, and related phenotypes are seizures and blindness

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 609634

Related Diseases for Migraine, Familial Hemiplegic, 3

Diseases in the Hemiplegic Migraine family:

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

Diseases related to Migraine, Familial Hemiplegic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 11.4
2 migraine with or without aura 1 11.4
3 migraine, familial hemiplegic, 1 11.0
4 migraine, familial hemiplegic, 2 11.0
5 hemiplegic migraine 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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
hemiplegia
hemiparesis
migraine with aura
seizure (in a subset of patients in infancy)


Clinical features from OMIM:

609634

Human phenotypes related to Migraine, Familial Hemiplegic, 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 blindness 32 HP:0000618
3 photophobia 32 HP:0000613
4 hemiplegia 32 HP:0002301
5 hemiparesis 32 HP:0001269
6 migraine with aura 32 HP:0002077

UMLS symptoms related to Migraine, Familial Hemiplegic, 3:


photophobia, hemiplegia, hemiparesis

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

MalaCards organs/tissues related to Migraine, Familial Hemiplegic, 3:

41
Eye

Publications for Migraine, Familial Hemiplegic, 3

Articles related to Migraine, Familial Hemiplegic, 3:

# Title Authors Year
1
Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report. ( 30498473 )
2018

Variations for Migraine, Familial Hemiplegic, 3

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

75
# 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

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_006920.4(SCN1A): c.4432C> A (p.Gln1478Lys) single nucleotide variant Pathogenic rs121918628 GRCh37 Chromosome 2, 166854559: 166854559
2 SCN1A NM_006920.4(SCN1A): c.4432C> A (p.Gln1478Lys) single nucleotide variant Pathogenic rs121918628 GRCh38 Chromosome 2, 165998049: 165998049
3 SCN1A NM_006920.4(SCN1A): c.4462T> C (p.Phe1488Leu) single nucleotide variant Pathogenic rs121918632 GRCh37 Chromosome 2, 166852609: 166852609
4 SCN1A NM_006920.4(SCN1A): c.4462T> C (p.Phe1488Leu) single nucleotide variant Pathogenic rs121918632 GRCh38 Chromosome 2, 165996099: 165996099
5 SCN1A NM_006920.4(SCN1A): c.4434G> C (p.Gln1478His) single nucleotide variant Pathogenic rs121918633 GRCh37 Chromosome 2, 166854557: 166854557
6 SCN1A NM_006920.4(SCN1A): c.4434G> C (p.Gln1478His) single nucleotide variant Pathogenic rs121918633 GRCh38 Chromosome 2, 165998047: 165998047
7 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh37 Chromosome 2, 166903445: 166903445
8 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh38 Chromosome 2, 166046935: 166046935
9 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh37 Chromosome 2, 166897864: 166897864
10 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh38 Chromosome 2, 166041354: 166041354
11 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh37 Chromosome 2, 166868775: 166868775
12 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh38 Chromosome 2, 166012265: 166012265
13 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh37 Chromosome 2, 166872146: 166872146
14 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh38 Chromosome 2, 166015636: 166015636
15 SCN1A NM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter) single nucleotide variant Pathogenic rs398123585 GRCh37 Chromosome 2, 166900385: 166900385
16 SCN1A NM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter) single nucleotide variant Pathogenic rs398123585 GRCh38 Chromosome 2, 166043875: 166043875
17 SCN1A NM_001165963.1(SCN1A): c.345T> C (p.Asn115=) single nucleotide variant Benign/Likely benign rs61741123 GRCh37 Chromosome 2, 166915118: 166915118
18 SCN1A NM_001165963.1(SCN1A): c.345T> C (p.Asn115=) single nucleotide variant Benign/Likely benign rs61741123 GRCh38 Chromosome 2, 166058608: 166058608
19 SCN1A NM_001165963.1(SCN1A): c.1739G> A (p.Arg580Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs544692790 GRCh37 Chromosome 2, 166900483: 166900483
20 SCN1A NM_001165963.1(SCN1A): c.1739G> A (p.Arg580Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs544692790 GRCh38 Chromosome 2, 166043973: 166043973
21 SCN1A NM_001165963.1(SCN1A): c.3481G> A (p.Ala1161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201079458 GRCh37 Chromosome 2, 166872186: 166872186
22 SCN1A NM_001165963.1(SCN1A): c.3481G> A (p.Ala1161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201079458 GRCh38 Chromosome 2, 166015676: 166015676
23 SCN1A NM_001165963.2(SCN1A): c.2947-41C> T single nucleotide variant Benign rs7601520 GRCh37 Chromosome 2, 166893081: 166893081
24 SCN1A NM_001165963.2(SCN1A): c.2947-41C> T single nucleotide variant Benign rs7601520 GRCh38 Chromosome 2, 166036571: 166036571

Expression for Migraine, Familial Hemiplegic, 3

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

Pathways for Migraine, Familial Hemiplegic, 3

GO Terms for Migraine, Familial Hemiplegic, 3

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