Migraine, Familial Hemiplegic, 2 (FHM2)

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OMIM 57 602481 MedGen 42 C1865322 C1865323 MeSH 44 D020325

SNOMED-CT via HPO 69 263681008 111516008 246636008 24982008 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 371632003 8011004 127377003 20022000 286933003 386661006 50177009 4473006 421455009 68345001 6950007 50582007 271789005 399090003 399153001 404640003 271782001 79519003 20301004 87486003 more UMLS 73 C1865322

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, hemiplegia and hemiparesis. An important gene associated with Migraine, Familial Hemiplegic, 2 is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2). Affiliated tissues include brain, eye 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

Clinical features from OMIM:

602481

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