MIGRAINE, FAMILIAL HEMIPLEGIC, 1

General Information (adopted from Orphanet):

Synonyms, Signs: MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED
MHP1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
FHM1
FHM
Number of Symptoms 24
OrphanetNr:
OMIM Id: 141500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001125) Transient unilateral blurring of vision 4 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0002076) Migraine 41 / 7739
4
(HPO:0001269) Hemiparesis 51 / 7739
5
(HPO:0001289) Confusion 36 / 7739
6
(HPO:0000709) Psychosis 61 / 7739
7
(HPO:0002301) Hemiplegia 42 / 7739
8
(HPO:0001327) Photomyoclonic seizures 125 / 7739
9
(HPO:0008765) Auditory hallucinations 8 / 7739
10
(HPO:0002329) Drowsiness 19 / 7739
11
(HPO:0001251) Ataxia 413 / 7739
12
(HPO:0001259) Coma 65 / 7739
13
(HPO:0000739) Anxiety 67 / 7739
14
(HPO:0002357) Dysphasia 33 / 7739
15
(HPO:0002367) Visual hallucinations 8 / 7739
16
(HPO:0001250) Seizures 1245 / 7739
17
(HPO:0001337) Tremor 200 / 7739
18
(HPO:0002442) Dyscalculia 5 / 7739
19
(HPO:0001272) Cerebellar atrophy 197 / 7739
20
(OMIM) Brain edema following head injury (less common) 1 / 7739
21
(HPO:0001317) Abnormality of the cerebellum 36 / 7739
22
(OMIM) Impaired long-term verbal memory 1 / 7739
23
(OMIM) Attention disturbances 1 / 7739
24
(OMIM) Psychomotor agitation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Familial hemiplegic migraine is a subtype of migraine with aura (see 157300). FHM was first described by Clarke (1910) in a family in which attacks of hemicranial pain and associated hemiparesis occurred in 4 generations. Rosenbaum (1960) described ...
Molecular genetics OMIM Ophoff et al. (1996) demonstrated 4 different missense mutations in conserved functional domains of the CACNL1A4 gene (601011.0001-601011.0004) in 5 unrelated families with familial hemiplegic migraine. Ducros et al. (1999) screened 16 families and 3 nonfamilial cases with ...