MIGRAINE, FAMILIAL HEMIPLEGIC, 3

General Information (adopted from Orphanet):

Synonyms, Signs: FHM3
Number of Symptoms 13
OrphanetNr:
OMIM Id: 609634
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:0000618) Blindness 124 / 7739
2
(HPO:0000613) Photophobia 158 / 7739
3
(HPO:0002076) Migraine 41 / 7739
4
(HPO:0001269) Hemiparesis 51 / 7739
5
(HPO:0002301) Hemiplegia 42 / 7739
6
(HPO:0001327) Photomyoclonic seizures 125 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0002077) Migraine with aura 14 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Transient blindness (elicited by light, sudden standing, or direct pressure on the eyelid) lasting 3 to 10 seconds 1 / 7739
11
(OMIM) Absent pupillary reflexes during blindness episodes 1 / 7739
12
(OMIM) Normal retinal and pupillary reflexes between episodes 1 / 7739
13
(OMIM) Elicited repetitive daily blindness (ERDB) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dichgans et al. (2005) reported 3 unrelated families of European origin with a form of autosomal dominant FHM. Age at onset ranged from 6 to 15 years, and the episodes were associated with variable features of nausea, vomiting, ...
Molecular genetics OMIM In affected members of 3 European families with FHM3, Dichgans et al. (2005) identified a heterozygous mutation in the SCN1A gene (182389.0012).

In affected members of 2 unrelated families with FHM3 associated with elicited repetitive daily ...