MCID: HMF011
MIFTS: 24

Hemifacial Spasm, Familial

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemifacial Spasm, Familial

MalaCards integrated aliases for Hemifacial Spasm, Familial:

Name: Hemifacial Spasm, Familial 58
Focal Myoclonus of Face 60
Hemifacial Spasm 60
Facial Hemispasm 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hemifacial spasm, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 141405
ICD10 via Orphanet 35 G51.3
Orphanet 60 ORPHA221083
MedGen 43 C1841639
SNOMED-CT via HPO 70 13753008 263681008 88425004

Summaries for Hemifacial Spasm, Familial

OMIM : 58 Hemifacial spasm is usually diagnosed in persons in their mid-forties. It often begins with involuntary clonic contractions or twitching of the orbicularis oculi muscle and progresses to involve the entire musculature innervated by the facial nerve (summary by Coad et al., 1991 and Miwa et al., 2002). (141405)

MalaCards based summary : Hemifacial Spasm, Familial, also known as focal myoclonus of face, is related to blepharospasm and trigeminal neuralgia. Affiliated tissues include bone, brain and heart, and related phenotypes are abnormality of the nervous system and hemifacial spasm

Related Diseases for Hemifacial Spasm, Familial

Diseases in the Hemifacial Spasm family:

Hemifacial Spasm, Familial

Diseases related to Hemifacial Spasm, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 blepharospasm 10.9
2 trigeminal neuralgia 10.8
3 dystonia 10.5
4 facial paralysis 10.5
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
6 blepharospasm, benign essential 10.5
7 glossopharyngeal neuralgia 10.4
8 cervical dystonia 10.4
9 arteriovenous malformation 10.4
10 bell's palsy 10.4
11 hemifacial spasm 10.4
12 torticollis 10.3
13 seizures, benign familial neonatal, 1 10.3
14 focal dystonia 10.3
15 multiple sclerosis 10.2
16 lipomatosis, multiple 10.2
17 pleomorphic lipoma 10.2
18 astrocytoma 10.2
19 arachnoid cysts 10.2
20 headache 10.2
21 lymphatic malformation 5 10.2
22 meningioma, familial 10.2
23 anxiety 10.2
24 spinal meningioma 10.2
25 mammary paget's disease 10.2
26 secretory meningioma 10.2
27 intracranial hypertension 10.2
28 chiari malformation 10.2
29 glioma 10.2
30 tremor 10.2
31 arteriovenous malformations of the brain 10.1
32 epidermoid cysts 10.1
33 neurofibromatosis, type iv, of riccardi 10.1
34 tetralogy of fallot 10.1
35 arteriovenous fistula 10.1
36 oromandibular dystonia 10.1
37 cysticercosis 10.1
38 cholesteatoma of middle ear 10.1
39 entropion 10.1
40 acoustic neuroma 10.1
41 cranial nerve palsy 10.1
42 movement disease 10.1
43 paget's disease of bone 10.1
44 cluster headache 10.1
45 pilocytic astrocytoma 10.1
46 achondroplasia 9.9
47 atherosclerosis susceptibility 9.9
48 diabetes insipidus, nephrogenic, autosomal 9.9
49 hemifacial atrophy, progressive 9.9
50 hypertension, essential 9.9

Graphical network of the top 20 diseases related to Hemifacial Spasm, Familial:



Diseases related to Hemifacial Spasm, Familial

Symptoms & Phenotypes for Hemifacial Spasm, Familial

Human phenotypes related to Hemifacial Spasm, Familial:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 33 HP:0000707
2 hemifacial spasm 33 HP:0010828

Symptoms via clinical synopsis from OMIM:

58
Neuro:
hemifacial spasm
orbicularis oculi muscle twitching

Misc:
onset usually in the mid-forties

Clinical features from OMIM:

141405

Drugs & Therapeutics for Hemifacial Spasm, Familial

Search Clinical Trials , NIH Clinical Center for Hemifacial Spasm, Familial

Genetic Tests for Hemifacial Spasm, Familial

Anatomical Context for Hemifacial Spasm, Familial

MalaCards organs/tissues related to Hemifacial Spasm, Familial:

42
Bone, Brain, Heart, Tongue

Publications for Hemifacial Spasm, Familial

Articles related to Hemifacial Spasm, Familial:

# Title Authors Year
1
Long-term therapy of benign essential blepharospasm and facial hemispasm with botulinum toxin A: retrospective assessment of the clinical and quality of life impact in patients treated for more than 15 years. ( 24604684 )
2014
2
Low-dose treatment of cervical dystonia, blepharospasm and facial hemispasm with albumin-diluted botulinum toxin type A under EMG guidance. An open label study. ( 10601802 )
2000
3
[Therapeutic trial in facial hemispasm. Initial results (author's transl)]. ( 7436237 )
1980

Variations for Hemifacial Spasm, Familial

Expression for Hemifacial Spasm, Familial

Search GEO for disease gene expression data for Hemifacial Spasm, Familial.

Pathways for Hemifacial Spasm, Familial

GO Terms for Hemifacial Spasm, Familial

Sources for Hemifacial Spasm, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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