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 58 13
Hereditary Geniospasm 60 74
Familial Trembling of the Chin 60
Hereditary Chin Myoclonus 60
Hereditary Chin-Trembling 60
Trembling Chin 58
Geniospasm 58
Gsm1 58

Characteristics:

Orphanet epidemiological data:

60
hereditary geniospasm
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
geniospasm 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 190100
MESH via Orphanet 46 C537682
ICD10 via Orphanet 35 G25.3
UMLS via Orphanet 75 C2931589
Orphanet 60 ORPHA53372
MedGen 43 C1860972
SNOMED-CT via HPO 70 263681008 48694002
UMLS 74 C2931589

Summaries for Geniospasm 1

OMIM : 58 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)

MalaCards based summary : Geniospasm 1, also known as hereditary geniospasm, is related to cone-rod dystrophy and hearing loss 2 and hereditary geniospasm. An important gene associated with Geniospasm 1 is GSM1 (Geniospasm 1). Affiliated tissues include skin, and 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 cone-rod dystrophy and hearing loss 2 11.1
2 hereditary geniospasm 11.1
3 myoclonus 10.1

Symptoms & Phenotypes for Geniospasm 1

Human phenotypes related to Geniospasm 1:

33
# Description HPO Frequency HPO Source Accession
1 anxiety 33 HP:0000739
2 chin myoclonus 33 HP:0012462

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Geniospasm 1

Search Clinical Trials , NIH Clinical Center for Geniospasm 1

Genetic Tests for Geniospasm 1

Anatomical Context for Geniospasm 1

MalaCards organs/tissues related to Geniospasm 1:

42
Skin

Publications for Geniospasm 1

Articles related to Geniospasm 1:

# Title Authors Year
1
Hereditary geniospasm in a Korean family. ( 25829069 )
2015
2
Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus. ( 30363942 )
2015
3
Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity. ( 9382105 )
1997
4
Hereditary geniospasm: two new families. ( 8914107 )
1996

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
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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