FAME6
MCID: EPL227
MIFTS: 25

Epilepsy, Familial Adult Myoclonic, 6 (FAME6)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 6

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 6:

Name: Epilepsy, Familial Adult Myoclonic, 6 57 72 29 6
Benign Adult Familial Myoclonic Epilepsy 6 57 12 72
Bafme6 57 12 72
Fcmte6 57 12 72
Fame6 57 12 72
Cortical Myoclonic Tremor with Epilepsy, Familial, 6 57 72
Familial Adult Myoclonic Epilepsy 6 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 6; Fcmte6 57
Benign Adult Familial Myoclonic Epilepsy 6; Bafme6 57
Familial Cortical Myoclonic Tremor and Epilepsy 6 12
Epilepsy, Myoclonic, Familial Adult, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
electrophysiologic studies indicate cortical origin of the tremor
nonprogressive or slowly progressive course
one japanese family has been reported (last curated july 2018)

Inheritance:
autosomal dominant


HPO:

31
epilepsy, familial adult myoclonic, 6:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111696
OMIM® 57 618074
OMIM Phenotypic Series 57 PS601068
MeSH 44 D004831
SNOMED-CT via HPO 68 263681008

Summaries for Epilepsy, Familial Adult Myoclonic, 6

UniProtKB/Swiss-Prot : 72 Epilepsy, familial adult myoclonic, 6: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME6 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 6, also known as benign adult familial myoclonic epilepsy 6, is related to epilepsy and adolescence-adult electroclinical syndrome. An important gene associated with Epilepsy, Familial Adult Myoclonic, 6 is TNRC6A (Trinucleotide Repeat Containing Adaptor 6A). Related phenotypes are myoclonic tremor and Decreased human papilloma virus 16 (HPV16) pseudovirus infection

Disease Ontology : 12 A familial adult myoclonic epilepsy that has material basis in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1.

More information from OMIM: 618074 PS601068

Related Diseases for Epilepsy, Familial Adult Myoclonic, 6

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 6:



Diseases related to Epilepsy, Familial Adult Myoclonic, 6

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 6

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 6:

31
# Description HPO Frequency HPO Source Accession
1 myoclonic tremor 31 HP:0033054

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic:
involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers
movements ('tremors') characterized by 8 to 10-hz discharges

Clinical features from OMIM®:

618074 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Epilepsy, Familial Adult Myoclonic, 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 8.8 DAB1 TNRC6A YEATS2

MGI Mouse Phenotypes related to Epilepsy, Familial Adult Myoclonic, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.35 DAB1 MARCHF6 RAPGEF2 STARD7 TNRC6A
2 integument MP:0010771 8.92 RAPGEF2 STARD7 TNRC6A YEATS2

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 6

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 6

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 6

Genetic tests related to Epilepsy, Familial Adult Myoclonic, 6:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Adult Myoclonic, 6 29 TNRC6A

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 6

Publications for Epilepsy, Familial Adult Myoclonic, 6

Articles related to Epilepsy, Familial Adult Myoclonic, 6:

# Title Authors PMID Year
1
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 57 6
29507423 2018

Variations for Epilepsy, Familial Adult Myoclonic, 6

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNRC6A TNRC6A, 5-BP INS, TTTCA(n) Insertion Pathogenic 559390 GRCh37:
GRCh38:

Expression for Epilepsy, Familial Adult Myoclonic, 6

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 6.

Pathways for Epilepsy, Familial Adult Myoclonic, 6

GO Terms for Epilepsy, Familial Adult Myoclonic, 6

Biological processes related to Epilepsy, Familial Adult Myoclonic, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 9.16 RAPGEF2 DAB1
2 neuron migration GO:0001764 8.96 RAPGEF2 DAB1
3 positive regulation of protein kinase activity GO:0045860 8.62 RAPGEF2 DAB1

Sources for Epilepsy, Familial Adult Myoclonic, 6

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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