MCID: GNS004
MIFTS: 19

Geniospasm 1

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Geniospasm 1

MalaCards integrated aliases for Geniospasm 1:

Name: Geniospasm 1 57
Hereditary Geniospasm 59 73
Geniospasm 57 13
Familial Trembling of the Chin 59
Hereditary Chin Myoclonus 59
Hereditary Chin-Trembling 59
Trembling Chin 57
Gsm1 57

Characteristics:

Orphanet epidemiological data:

59
hereditary geniospasm
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
geniospasm 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 190100
Orphanet 59 ORPHA53372
MESH via Orphanet 45 C537682
UMLS via Orphanet 74 C2931589
ICD10 via Orphanet 34 G25.3
MedGen 42 C1860972
SNOMED-CT via HPO 69 263681008
UMLS 73 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)

MalaCards based summary : Geniospasm 1, also known as hereditary geniospasm, is related to hereditary geniospasm. An important gene associated with Geniospasm 1 is GSM1 (Geniospasm 1). Affiliated tissues include skin, and related phenotype is 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

Symptoms & Phenotypes for Geniospasm 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Geniospasm 1:

32
# Description HPO Frequency HPO Source Accession
1 chin myoclonus 32 HP:0012462

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:

41
Skin

Publications for Geniospasm 1

Articles related to Geniospasm 1:

# Title Authors Year
1
Hereditary geniospasm in a Korean family. ( 25829069 )
2015
2
Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity. ( 9382105 )
1997
3
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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