MCID: MGR030
MIFTS: 32

Migraine, Familial Hemiplegic, 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Migraine, Familial Hemiplegic, 2

MalaCards integrated aliases for Migraine, Familial Hemiplegic, 2:

Name: Migraine, Familial Hemiplegic, 2 57 53 75 73
Migraine, Familial Basilar 57 29 13 6
Familial Hemiplegic Migraine Type 2 53 29 6
Fhm2 57 53 75
Mhp2 57 53 75
Migraine, Hemiplegic, Familial, Type 2 40
Hemiplegic Migraine, Familial Type 2 53
Familiar Basilar Migraine 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
migraine, familial hemiplegic, 2:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Migraine, Familial Hemiplegic, 2

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, 2, also known as migraine, familial basilar, is related to familial hemiplegic migraine and migraine, familial hemiplegic, 1, and has symptoms including fever, hemiparesis and hemiplegia. An important gene associated with Migraine, Familial Hemiplegic, 2 is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2). Affiliated tissues include brain and smooth muscle, and related phenotypes are diplopia and intellectual disability

UniProtKB/Swiss-Prot : 75 Migraine, familial hemiplegic, 2: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.

Description from OMIM: 602481

Related Diseases for Migraine, Familial Hemiplegic, 2

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

# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 11.4
2 migraine, familial hemiplegic, 1 10.9
3 migraine with or without aura 1 10.9
4 migraine, familial hemiplegic, 3 10.9
5 hemiplegic migraine 10.1
6 epilepsy 9.9
7 febrile seizures 9.9

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



Diseases related to Migraine, Familial Hemiplegic, 2

Symptoms & Phenotypes for Migraine, Familial Hemiplegic, 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysphasia
migraine
aphasia
hemiplegia
confusion
more
Head And Neck Eyes:
hemianopic blurring of vision

Metabolic Features:
fever


Clinical features from OMIM:

602481

Human phenotypes related to Migraine, Familial Hemiplegic, 2:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 diplopia 32 HP:0000651
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 dysarthria 32 HP:0001260
5 dysphasia 32 HP:0002357
6 fever 32 HP:0001945
7 aphasia 32 HP:0002381
8 vertigo 32 HP:0002321
9 apraxia 32 HP:0002186
10 coma 32 HP:0001259
11 blurred vision 32 HP:0000622
12 hemiplegia 32 HP:0002301
13 confusion 32 HP:0001289
14 hemiparesis 32 HP:0001269
15 drowsiness 32 HP:0002329
16 episodic ataxia 32 HP:0002131
17 migraine with aura 32 HP:0002077
18 transient unilateral blurring of vision 32 HP:0001125

UMLS symptoms related to Migraine, Familial Hemiplegic, 2:


fever, hemiparesis, hemiplegia

Drugs & Therapeutics for Migraine, Familial Hemiplegic, 2

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

Genetic Tests for Migraine, Familial Hemiplegic, 2

Genetic tests related to Migraine, Familial Hemiplegic, 2:

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

Anatomical Context for Migraine, Familial Hemiplegic, 2

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

41
Brain, Smooth Muscle

Publications for Migraine, Familial Hemiplegic, 2

Articles related to Migraine, Familial Hemiplegic, 2:

(show all 16)
# Title Authors Year
1
Smooth muscle Ca<sup>2+</sup> sensitization causes hypercontractility of middle cerebral arteries in mice bearing the familial hemiplegic migraine type 2 associated mutation. ( 29513112 )
2018
2
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. ( 26911348 )
2016
3
Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation. ( 27226003 )
2016
4
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. ( 27354390 )
2016
5
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. ( 25411546 )
2015
6
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. ( 24096472 )
2013
7
Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2). ( 22661290 )
2012
8
Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2. ( 21731499 )
2011
9
Familial hemiplegic migraine type 2 does not share hypersensitivity to nitric oxide with common types of migraine. ( 18294248 )
2008
10
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2. ( 18728015 )
2008
11
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. ( 16037212 )
2005
12
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. ( 15308625 )
2004
13
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. ( 15133718 )
2004
14
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. ( 15459825 )
2004
15
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. ( 12539047 )
2003
16
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. ( 12601705 )
2003

Variations for Migraine, Familial Hemiplegic, 2

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

75
# Symbol AA change Variation ID SNP ID
1 ATP1A2 p.Arg689Gln VAR_019935 rs28933401
2 ATP1A2 p.Met731Thr VAR_019936 rs28933400
3 ATP1A2 p.Leu764Pro VAR_019937 rs28933398
4 ATP1A2 p.Trp887Arg VAR_019938 rs28933399
5 ATP1A2 p.Gly715Arg VAR_065685
6 ATP1A2 p.Gly874Ser VAR_069991
7 ATP1A2 p.Arg1007Trp VAR_069992

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

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.2291T> C (p.Leu764Pro) single nucleotide variant Pathogenic rs28933398 GRCh37 Chromosome 1, 160105635: 160105635
2 ATP1A2 NM_000702.3(ATP1A2): c.2291T> C (p.Leu764Pro) single nucleotide variant Pathogenic rs28933398 GRCh38 Chromosome 1, 160135845: 160135845
3 ATP1A2 NM_000702.3(ATP1A2): c.2659T> C (p.Trp887Arg) single nucleotide variant Pathogenic rs28933399 GRCh37 Chromosome 1, 160106455: 160106455
4 ATP1A2 NM_000702.3(ATP1A2): c.2659T> C (p.Trp887Arg) single nucleotide variant Pathogenic rs28933399 GRCh38 Chromosome 1, 160136665: 160136665
5 ATP1A2 NM_000702.3(ATP1A2): c.2192T> C (p.Met731Thr) single nucleotide variant Pathogenic rs28933400 GRCh37 Chromosome 1, 160105300: 160105300
6 ATP1A2 NM_000702.3(ATP1A2): c.2192T> C (p.Met731Thr) single nucleotide variant Pathogenic rs28933400 GRCh38 Chromosome 1, 160135510: 160135510
7 ATP1A2 NM_000702.3(ATP1A2): c.2066G> A (p.Arg689Gln) single nucleotide variant Pathogenic rs28933401 GRCh37 Chromosome 1, 160105036: 160105036
8 ATP1A2 NM_000702.3(ATP1A2): c.2066G> A (p.Arg689Gln) single nucleotide variant Pathogenic rs28933401 GRCh38 Chromosome 1, 160135246: 160135246
9 ATP1A2 NM_000702.3(ATP1A2): c.901G> A (p.Gly301Arg) single nucleotide variant Pathogenic rs121918612 GRCh37 Chromosome 1, 160097494: 160097494
10 ATP1A2 NM_000702.3(ATP1A2): c.901G> A (p.Gly301Arg) single nucleotide variant Pathogenic rs121918612 GRCh38 Chromosome 1, 160127704: 160127704
11 ATP1A2 NM_000702.3(ATP1A2): c.1033A> G (p.Thr345Ala) single nucleotide variant Pathogenic rs121918613 GRCh37 Chromosome 1, 160098457: 160098457
12 ATP1A2 NM_000702.3(ATP1A2): c.1033A> G (p.Thr345Ala) single nucleotide variant Pathogenic rs121918613 GRCh38 Chromosome 1, 160128667: 160128667
13 ATP1A2 NM_000702.3(ATP1A2): c.2152G> A (p.Asp718Asn) single nucleotide variant Pathogenic rs121918614 GRCh37 Chromosome 1, 160105260: 160105260
14 ATP1A2 NM_000702.3(ATP1A2): c.2152G> A (p.Asp718Asn) single nucleotide variant Pathogenic rs121918614 GRCh38 Chromosome 1, 160135470: 160135470
15 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh37 Chromosome 1, 160109525: 160109525
16 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh38 Chromosome 1, 160139735: 160139735
17 ATP1A2 NM_000702.3(ATP1A2): c.1643G> A (p.Arg548His) single nucleotide variant Pathogenic rs121918616 GRCh37 Chromosome 1, 160100073: 160100073
18 ATP1A2 NM_000702.3(ATP1A2): c.1643G> A (p.Arg548His) single nucleotide variant Pathogenic rs121918616 GRCh38 Chromosome 1, 160130283: 160130283
19 ATP1A2 NM_000702.3(ATP1A2): c.857T> C (p.Ile286Thr) single nucleotide variant Pathogenic rs121918617 GRCh37 Chromosome 1, 160097450: 160097450
20 ATP1A2 NM_000702.3(ATP1A2): c.857T> C (p.Ile286Thr) single nucleotide variant Pathogenic rs121918617 GRCh38 Chromosome 1, 160127660: 160127660
21 ATP1A2 NM_000702.3(ATP1A2): c.1127C> T (p.Thr376Met) single nucleotide variant Pathogenic rs121918620 GRCh37 Chromosome 1, 160098551: 160098551
22 ATP1A2 NM_000702.3(ATP1A2): c.1127C> T (p.Thr376Met) single nucleotide variant Pathogenic rs121918620 GRCh38 Chromosome 1, 160128761: 160128761
23 ATP1A2 NM_000702.3(ATP1A2): c.571G> A (p.Val191Met) single nucleotide variant Pathogenic rs869025341 GRCh37 Chromosome 1, 160094161: 160094161
24 ATP1A2 NM_000702.3(ATP1A2): c.571G> A (p.Val191Met) single nucleotide variant Pathogenic rs869025341 GRCh38 Chromosome 1, 160124371: 160124371

Expression for Migraine, Familial Hemiplegic, 2

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

Pathways for Migraine, Familial Hemiplegic, 2

GO Terms for Migraine, Familial Hemiplegic, 2

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