FHM2
MCID: MGR030
MIFTS: 49
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Migraine, Familial Hemiplegic, 2 (FHM2)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Migraine, Familial Hemiplegic, 2:
Characteristics:OMIM:56
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:31
migraine, familial hemiplegic, 2:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
UniProtKB/Swiss-Prot :
73
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.
MalaCards based summary : Migraine, Familial Hemiplegic, 2, also known as migraine, familial basilar, is related to familial or sporadic hemiplegic migraine and episodic ataxia, type 2, 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), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. Affiliated tissues include brain and smooth muscle, and related phenotypes are intellectual disability and fever Disease Ontology : 12 A familial hemiplegic migraine that has material basis in heterozygous mutation in ATP1A2 on 1q23.2. |
Human phenotypes related to Migraine, Familial Hemiplegic, 2:31 (show all 18)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:602481UMLS symptoms related to Migraine, Familial Hemiplegic, 2:fever, hemiparesis, hemiplegia |
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MalaCards organs/tissues related to Migraine, Familial Hemiplegic, 2:40
Brain,
Smooth Muscle
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Articles related to Migraine, Familial Hemiplegic, 2:(show top 50) (show all 88)
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ClinVar genetic disease variations for Migraine, Familial Hemiplegic, 2:6 (show top 50) (show all 148)
UniProtKB/Swiss-Prot genetic disease variations for Migraine, Familial Hemiplegic, 2:73
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Search
GEO
for disease gene expression data for Migraine, Familial Hemiplegic, 2.
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Pathways related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:
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Cellular components related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:(show all 25)
Molecular functions related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:
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