GSM1
MCID: GNS004
MIFTS: 26

Geniospasm 1 (GSM1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Geniospasm 1

MalaCards integrated aliases for Geniospasm 1:

Name: Geniospasm 1 57 12
Hereditary Geniospasm 19 58 71
Trembling Chin 57 19
Geniospasm 57 19
Hereditary Chin Tremor/myoclonus 19
Familial Trembling of the Chin 58
Hereditary Chin Myoclonus 58
Hereditary Chin-Trembling 58
Gsm 1 19
Gsm1 57

Characteristics:


Inheritance:

Geniospasm 1: Autosomal dominant 57
Hereditary Geniospasm: Autosomal dominant 58

Age Of Onset:

Hereditary Geniospasm: Childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 190100
MESH via Orphanet 44 C537682
ICD10 via Orphanet 32 G25.3
UMLS via Orphanet 72 C2931589
Orphanet 58 ORPHA53372
MedGen 40 C1860972
SNOMED-CT via HPO 69 48694002
UMLS 71 C2931589

Summaries for Geniospasm 1

GARD: 19 Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern.

MalaCards based summary: Geniospasm 1, also known as hereditary geniospasm, is related to periodic limb movement disorder and otosclerosis. An important gene associated with Geniospasm 1 is GSM1 (Geniospasm 1). Affiliated tissues include skin, tongue and lung, and related phenotypes are chin myoclonus and abnormality of mentalis muscle

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 24-Oct-2022)

Orphanet: 58 Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.

Related Diseases for Geniospasm 1

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

# Related Disease Score Top Affiliating Genes
1 periodic limb movement disorder 10.2
2 otosclerosis 10.1
3 movement disease 10.1
4 tremor 10.1
5 dystonia 11, myoclonic 10.0
6 seizures, benign familial neonatal, 1 9.9
7 bruxism 9.9
8 essential tremor 9.9
9 sleep disorder 9.9
10 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:

58 30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chin myoclonus 58 30 Obligate (100%) Obligate (100%)
HP:0012462
2 abnormality of mentalis muscle 58 30 Hallmark (90%) Very frequent (99-80%)
HP:3000007
3 abnormal social behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012433
4 abnormality of lower lip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000178
5 eeg abnormality 58 Excluded (0%)
6 anxiety 30 HP:0000739
7 emg abnormality 58 Excluded (0%)
8 intention tremor 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

Drugs & Therapeutics for Geniospasm 1

Search Clinical Trials, NIH Clinical Center for Geniospasm 1

Genetic Tests for Geniospasm 1

Anatomical Context for Geniospasm 1

Organs/tissues related to Geniospasm 1:

MalaCards : Skin, Tongue, Lung

Publications for Geniospasm 1

Articles related to Geniospasm 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Hereditary chin tremor/myoclonus: a report from Latin America. 62 57
9918373 1999
2
Hereditary chin trembling or hereditary chin myoclonus? 62 57
9416823 1997
3
Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity. 62 57
9382105 1997
4
Hereditary geniospasm: two new families. 62 57
8914107 1996
5
Familial trembling of the chin. 62 57
13576383 1958
6
Hereditary quivering of the chin. 57
5645699 1968
7
Trembling of the chin; an inheritable dominant character. 57
13408024 1957
8
Geniospasm: A systematic review on natural history, prognosis, and treatment. 62
35672188 2022
9
A Local Desymmetrization Approach to Piperidinyl Acetic Acid γ-Secretase Modulators. 62
34641679 2021
10
Hereditary geniospasm in a mother and son treated with botulinum toxin injection: A case report. 62
33854777 2021
11
Effective Treatment of Geniospasm: Case Series and Review of the Literature. 62
32874771 2020
12
Effects of Dietary Grape Seed Meal Bioactive Compounds on the Colonic Microbiota of Weaned Piglets With Dextran Sodium Sulfate-Induced Colitis Used as an Inflammatory Model. 62
32161762 2020
13
Hereditary Chin Trembling. 62
32435314 2020
14
TALE homeobox heterodimer GSM1/GSP1 is a molecular switch that prevents unwarranted genetic recombination in Chlamydomonas. 62
31368133 2019
15
Arabidopsis GSM1 is involved in ABI4-regulated ABA signaling under high-glucose condition in early seedling growth. 62
31481206 2019
16
Cross-Comparisons of Gait Speeds by Automatic Sensors and a Stopwatch to Provide Converting Formula Between Measuring Modalities. 62
32743291 2019
17
Teaching Video NeuroImages: Hereditary chin trembling. 62
30126888 2018
18
GSTT1 and GSTM1 null variants in Mestizo and Amerindian populations from northwestern Mexico and a literature review. 62
29111561 2017
19
Gene Regulatory Networks for the Haploid-to-Diploid Transition of Chlamydomonas reinhardtii. 62
28710131 2017
20
A Japanese case of hereditary chin trembling responsive to arotinolol. 62
27117562 2016
21
Identification and Characterization of a cis-Regulatory Element for Zygotic Gene Expression in Chlamydomonas reinhardtii. 62
27172209 2016
22
Vaginal erbium laser: the second-generation thermotherapy for the genitourinary syndrome of menopause. 62
26029987 2015
23
Hereditary chin-trembling. 62
26388646 2015
24
Hereditary geniospasm in a Korean family. 62
25829069 2015
25
Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus. 62
30363942 2015
26
First Report of Grapevine leafroll-associated virus 2 Infecting Muscadine (Vitis rotundifolia) and Summer Grape (Vitis aestivalis) in the United States. 62
30699763 2015
27
Modulation of Aβ42 in vivo by γ-secretase modulator in primates and humans. 62
26244059 2015
28
Tongue biting: a case of sporadic geniospasm during sleep. 62
25325595 2014
29
Polymorphisms in drug-metabolizing enzymes and risk to head and neck cancer: evidence for gene-gene and gene-environment interaction. 62
24519899 2014
30
Evaluation of pesticide-induced oxidative stress from a gene-environment interaction perspective. 62
23032575 2013
31
γ-Secretase modulator (GSM) photoaffinity probes reveal distinct allosteric binding sites on presenilin. 62
23396974 2013
32
Interaction of glucosinolate content of Arabidopsis thaliana mutant lines and feeding and oviposition by generalist and specialist lepidopterans. 62
23218016 2013
33
Piperidine acetic acid based γ-secretase modulators directly bind to Presenilin-1. 62
22229075 2011
34
Phenylpiperidine-type γ-secretase modulators target the transmembrane domain 1 of presenilin 1. 62
22002539 2011
35
Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds. 62
21357415 2011
36
Beta-amyloid precursor protein mutants respond to gamma-secretase modulators. 62
20348104 2010
37
Transition state-finding strategies for use with the growing string method. 62
19566143 2009
38
Facial reflex hyperexcitability in geniospasm suggests a brainstem origin. 62
19191344 2009
39
Effects of weak mobile phone - electromagnetic fields (GSM, UMTS) on event related potentials and cognitive functions. 62
18421712 2008
40
Effects of weak mobile phone - electromagnetic fields (GSM, UMTS) on well-being and resting EEG. 62
18431738 2008
41
First Report of Black raspberry necrosis virus in Rubus canadensis in Tennessee. 62
30769470 2008
42
Early sexual origins of homeoprotein heterodimerization and evolution of the plant KNOX/BELL family. 62
18510927 2008
43
An episode of geniospasm in sleep: toward new insights into pathophysiology? 62
18023028 2008
44
Sporadic geniospasm (chin trembling): report of a case. 62
17133510 2007
45
Recurrent nocturnal tongue biting in a child with hereditary chin trembling. 62
17092470 2006
46
Isolated high-frequency jaw tremor relieved by botulinum toxin injections. 62
16602105 2006
47
Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 Locus. 62
12465093 2002
48
[Polymorphisms of the CYP1A1 and GSTM1 genes and their combined effects on individual susceptibility to lung cancer in a Chinese population]. 62
11295132 2001
49
Study of the role of antimicrobial glucosinolate-derived isothiocyanates in resistance of Arabidopsis to microbial pathogens. 62
11299350 2001
50
Treatment of hereditary trembling chin with botulinum toxin. 62
9756157 1998

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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