Familial or sporadic hemiplegic migraine
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 29 |
| OrphanetNr: | 569 |
| OMIM Id: |
141500
602481 607516 609634 |
| ICD-10: |
G43.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 10 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Benign partial infantile seizures
-Rare genetic disease -Rare neurologic disease Genetic central nervous system and retinal vascular disease -Rare genetic disease Rare central nervous system and retinal vascular disease -Rare neurologic disease Rare genetic headache -Rare genetic disease Rare headache -Rare neurologic disease |
Symptom Information:
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0001125) | Transient unilateral blurring of vision | 4 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | Occasional [Orphanet] | 266 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001337) | Tremor | rare [HPO:skoehler] | 200 / 7739 | |||
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(HPO:0002077) | Migraine with aura | 14 / 7739 | ||||
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(HPO:0000713) | Agitation | 18 / 7739 | ||||
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(HPO:0000739) | Anxiety | 67 / 7739 | ||||
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(HPO:0001269) | Hemiparesis | 51 / 7739 | ||||
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(HPO:0002357) | Dysphasia | 33 / 7739 | ||||
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(HPO:0002301) | Hemiplegia | 42 / 7739 | ||||
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(HPO:0001259) | Coma | 65 / 7739 | ||||
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(HPO:0008765) | Auditory hallucinations | 8 / 7739 | ||||
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(HPO:0000709) | Psychosis | 61 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0002367) | Visual hallucinations | 8 / 7739 | ||||
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(HPO:0002442) | Dyscalculia | 5 / 7739 | ||||
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(HPO:0002353) | EEG abnormality | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0002329) | Drowsiness | 19 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001289) | Confusion | 36 / 7739 | ||||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0001945) | Fever | 218 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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