MCID: HRD194
MIFTS: 11

Hereditary Geniospasm

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Hereditary Geniospasm

MalaCards integrated aliases for Hereditary Geniospasm:

Name: Hereditary Geniospasm 53 73
Hereditary Chin Tremor/myoclonus 53
Trembling Chin 53
Geniospasm 53
Gsm 1 53

Classifications:



External Ids:

UMLS 73 C2931589

Summaries for Hereditary Geniospasm

NIH Rare Diseases : 53 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. Although the exact gene(s) that cause the condition are unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families.

MalaCards based summary : Hereditary Geniospasm, also known as hereditary chin tremor/myoclonus, is related to geniospasm 1. An important gene associated with Hereditary Geniospasm is GSM1 (Geniospasm 1).

Related Diseases for Hereditary Geniospasm

Diseases in the Hereditary Geniospasm family:

Geniospasm 1

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

# Related Disease Score Top Affiliating Genes
1 geniospasm 1 11.5

Symptoms & Phenotypes for Hereditary Geniospasm

Drugs & Therapeutics for Hereditary Geniospasm

Search Clinical Trials , NIH Clinical Center for Hereditary Geniospasm

Genetic Tests for Hereditary Geniospasm

Anatomical Context for Hereditary Geniospasm

Publications for Hereditary Geniospasm

Articles related to Hereditary Geniospasm:

# 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 Hereditary Geniospasm

Expression for Hereditary Geniospasm

Search GEO for disease gene expression data for Hereditary Geniospasm.

Pathways for Hereditary Geniospasm

GO Terms for Hereditary Geniospasm

Sources for Hereditary Geniospasm

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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