GSM1
MCID: GNS004
MIFTS: 20

Geniospasm 1 (GSM1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Geniospasm 1

MalaCards integrated aliases for Geniospasm 1:

Name: Geniospasm 1 57 13
Hereditary Geniospasm 58 70
Familial Trembling of the Chin 58
Hereditary Chin Myoclonus 58
Hereditary Chin-Trembling 58
Trembling Chin 57
Geniospasm 57
Gsm1 57

Characteristics:

Orphanet epidemiological data:

58
hereditary geniospasm
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
geniospasm 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 190100
MESH via Orphanet 45 C537682
ICD10 via Orphanet 33 G25.3
UMLS via Orphanet 71 C2931589
Orphanet 58 ORPHA53372
MedGen 41 C1860972
SNOMED-CT via HPO 68 263681008 48694002
UMLS 70 C2931589

Summaries for Geniospasm 1

OMIM® : 57 Geniospasm is characterized by spontaneous intermittent involuntary quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood (Wadlington, 1958; Danek et al., 1991). (190100) (Updated 20-May-2021)

MalaCards based summary : Geniospasm 1, also known as hereditary geniospasm, is related to hereditary geniospasm and otosclerosis. An important gene associated with Geniospasm 1 is GSM1 (Geniospasm 1). Related phenotypes are anxiety and chin myoclonus

Related Diseases for Geniospasm 1

Diseases in the Hereditary Geniospasm family:

Geniospasm 1

Diseases related to Geniospasm 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary geniospasm 10.9
2 otosclerosis 10.1
3 tremor 10.1
4 seizures, benign familial neonatal, 1 9.9
5 bruxism 9.9
6 movement disease 9.9
7 essential tremor 9.9
8 sleep disorder 9.9
9 myoclonus 9.9

Graphical network of the top 20 diseases related to Geniospasm 1:



Diseases related to Geniospasm 1

Symptoms & Phenotypes for Geniospasm 1

Human phenotypes related to Geniospasm 1:

31
# Description HPO Frequency HPO Source Accession
1 anxiety 31 HP:0000739
2 chin myoclonus 31 HP:0012462

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
trembling chin
geniospasm
intermittent quivering of skin over the chin

Misc:
triggered by anxiety or emotional upset
tranquilizers and anticonvulsants reduce the attacks
ameliorates with age

Clinical features from OMIM®:

190100 (Updated 20-May-2021)

Drugs & Therapeutics for Geniospasm 1

Search Clinical Trials , NIH Clinical Center for Geniospasm 1

Genetic Tests for Geniospasm 1

Anatomical Context for Geniospasm 1

Publications for Geniospasm 1

Articles related to Geniospasm 1:

(show all 11)
# Title Authors PMID Year
1
Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity. 57 61
9382105 1997
2
Hereditary geniospasm: two new families. 57 61
8914107 1996
3
Hereditary chin tremor/myoclonus: a report from Latin America. 57
9918373 1999
4
Hereditary chin trembling or hereditary chin myoclonus? 57
9416823 1997
5
Hereditary quivering of the chin. 57
5645699 1968
6
Familial trembling of the chin. 57
13576383 1958
7
Trembling of the chin; an inheritable dominant character. 57
13408024 1957
8
Hereditary geniospasm in a Korean family. 61
25829069 2015
9
Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus. 61
30363942 2015
10
An episode of geniospasm in sleep: toward new insights into pathophysiology? 61
18023028 2008
11
Isolated high-frequency jaw tremor relieved by botulinum toxin injections. 61
16602105 2006

Variations for Geniospasm 1

Expression for Geniospasm 1

Search GEO for disease gene expression data for Geniospasm 1.

Pathways for Geniospasm 1

GO Terms for Geniospasm 1

Sources for Geniospasm 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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