MIGRAINE, FAMILIAL HEMIPLEGIC, 2

General Information (adopted from Orphanet):

Synonyms, Signs: MHP2 MIGRAINE, FAMILIAL BASILAR, INCLUDED
FHM2
Number of Symptoms 28
OrphanetNr:
OMIM Id: 602481
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000622) Blurred vision 14 / 7739
2
(HPO:0001125) Transient unilateral blurring of vision 4 / 7739
3
(HPO:0000651) Diplopia 37 / 7739
4
(HPO:0002321) Vertigo 58 / 7739
5
(HPO:0002076) Migraine 41 / 7739
6
(HPO:0002329) Drowsiness 19 / 7739
7
(HPO:0002131) Episodic ataxia 16 / 7739
8
(HPO:0001327) Photomyoclonic seizures 125 / 7739
9
(HPO:0002357) Dysphasia 33 / 7739
10
(HPO:0002381) Aphasia 27 / 7739
11
(HPO:0001250) Seizures 1245 / 7739
12
(HPO:0001260) Dysarthria 329 / 7739
13
(HPO:0002077) Migraine with aura 14 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001269) Hemiparesis 51 / 7739
16
(HPO:0002301) Hemiplegia 42 / 7739
17
(HPO:0001259) Coma 65 / 7739
18
(HPO:0002186) Apraxia 22 / 7739
19
(HPO:0001289) Confusion 36 / 7739
20
(HPO:0001945) Fever 218 / 7739
21
(OMIM) Hemihypoasthesia 1 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Cerebellar ataxia during episodes 1 / 7739
24
(OMIM) Cerebellar signs during episodes 1 / 7739
25
(OMIM) Diffuse brain swelling occurs during coma 1 / 7739
26
(OMIM) Ictal EEG shows diffuse slow delta and theta activity 1 / 7739
27
(HPO:0003829) Incomplete penetrance 85 / 7739
28
(OMIM) Unusual aura symptoms include alien limb phenomenon, diplopia, apraxia, dysarthria, impaired hearing, vertigo 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Echenne et al. (1999) reported a boy who experienced recurrent comas precipitated by hemiparesis or paresthesias, aphasia, headaches, and behavioral changes, with subsequent loss of consciousness. A history of migraine or hemiplegic migraine was found in several family ...
Molecular genetics OMIM In a large Italian family with autosomal dominant familial hemiplegic migraine spanning 6 generations, De Fusco et al. (2003) identified a point mutation in the ATP1A2 gene (182340.0001). In a second family with 7 affected members, De Fusco ...