Migraine, familial hemiplegic, 1- MedGen UID:
- 331388
- •Concept ID:
- C1832884
- •
- Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.
Migraine with or without aura, susceptibility to, 6- MedGen UID:
- 334829
- •Concept ID:
- C1843765
- •
- Finding
Migraine with or without aura, susceptibility to, 5- MedGen UID:
- 334831
- •Concept ID:
- C1843771
- •
- Finding
For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300).
Migraine with or without aura, susceptibility to, 3- MedGen UID:
- 375283
- •Concept ID:
- C1843782
- •
- Finding
Migraine, familial typical, susceptibility to, 2- MedGen UID:
- 341144
- •Concept ID:
- C1848066
- •
- Finding
Migraine with or without aura, susceptibility to, 11- MedGen UID:
- 387900
- •Concept ID:
- C1857751
- •
- Finding
Migraine with or without aura, susceptibility to, 10- MedGen UID:
- 341839
- •Concept ID:
- C1857752
- •
- Finding
Migraine, familial hemiplegic, 3- MedGen UID:
- 400655
- •Concept ID:
- C1864987
- •
- Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.
Migraine, familial hemiplegic, 2- MedGen UID:
- 355962
- •Concept ID:
- C1865322
- •
- Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.
Familial temporal lobe epilepsy 4- MedGen UID:
- 368897
- •Concept ID:
- C1968847
- •
- Disease or Syndrome
A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.
Advanced sleep phase syndrome 2- MedGen UID:
- 815204
- •Concept ID:
- C3808874
- •
- Disease or Syndrome
Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999).
For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348).
Migraine with or without aura, susceptibility to, 1- MedGen UID:
- 854348
- •Concept ID:
- C3887485
- •
- Finding
Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985).
One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125).
Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656).
See also familial hemiplegic migraine-1 (FHM1; 141500), a subtype of autosomal dominant migraine with aura (MA).
Migraine, with or without aura, susceptibility to, 13- MedGen UID:
- 900808
- •Concept ID:
- C4225479
- •
- Finding
Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.
Brain small vessel disease 1 with or without ocular anomalies- MedGen UID:
- 1647320
- •Concept ID:
- C4551998
- •
- Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.