FAME7
MCID: EPL228
MIFTS: 25

Epilepsy, Familial Adult Myoclonic, 7 (FAME7)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 7

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 7:

Name: Epilepsy, Familial Adult Myoclonic, 7 57 72 29 6
Bafme7 57 12 72
Fcmte7 57 12 72
Fame7 57 12 72
Cortical Myoclonic Tremor with Epilepsy, Familial, 7 57 72
Benign Adult Familial Myoclonic Epilepsy 7 57 12
Familial Adult Myoclonic Epilepsy 7 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 7; Fcmte7 57
Benign Adult Familial Myoclonic Epilepsy 7; Bafme7 57
Familial Cortical Myoclonic Tremor and Epilepsy 7 12
Benign Adult Familial Myoclonic Epilepsy 27 72
Epilepsy, Myoclonic, Familial Adult, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
nonprogressive or slowly progressive course
one japanese patient has been reported (last curated july 2018)

Inheritance:
autosomal dominant


HPO:

31
epilepsy, familial adult myoclonic, 7:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111694
OMIM® 57 618075
OMIM Phenotypic Series 57 PS601068
MeSH 44 D004831

Summaries for Epilepsy, Familial Adult Myoclonic, 7

UniProtKB/Swiss-Prot : 72 Epilepsy, familial adult myoclonic, 7: 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. FAME7 inheritance is autosomal dominant.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 7, also known as bafme7, is related to spinocerebellar ataxia 37 and epilepsy, familial adult myoclonic, 3. An important gene associated with Epilepsy, Familial Adult Myoclonic, 7 is RAPGEF2 (Rap Guanine Nucleotide Exchange Factor 2). Related phenotypes are seizure and myoclonic tremor

Disease Ontology : 12 A familial adult myoclonic epilepsy that has material basis in a heterozygous 5-bp repeat expansion in RAPGEF2 on chromosome 4q32.1.

More information from OMIM: 618075 PS601068

Related Diseases for Epilepsy, Familial Adult Myoclonic, 7

Diseases in the Epilepsy, Myoclonic Juvenile family:

Epilepsy, Familial Adult Myoclonic, 1 Myoclonic Epilepsy, Familial Infantile
Epilepsy, Familial Adult Myoclonic, 2 Myoclonic Epilepsy, Juvenile 3
Myoclonic Epilepsy, Juvenile 4 Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Progressive Myoclonic, 6
Epilepsy, Juvenile Myoclonic 9 Epilepsy, Familial Adult Myoclonic, 4
Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Progressive Myoclonic 7
Epilepsy, Progressive Myoclonic, 8 Epilepsy, Progressive Myoclonic, 9
Epilepsy, Progressive Myoclonic, 10 Epilepsy, Juvenile Myoclonic 10
Epilepsy, Familial Adult Myoclonic, 6 Epilepsy, Familial Adult Myoclonic, 7
Epilepsy, Progressive Myoclonic, 11 Epilepsy, Progressive Myoclonic, 12
Familial Adult Myoclonic Epilepsy Epilepsy Progressive Myoclonic Type 3
Myoclonic Epilepsy of Infancy

Diseases related to Epilepsy, Familial Adult Myoclonic, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 37 9.7 SAMD12 DAB1
2 epilepsy, familial adult myoclonic, 3 9.6 SAMD12 MARCHF6
3 fuchs' endothelial dystrophy 9.6 SAMD12 DAB1
4 epilepsy 9.3 YEATS2 SAMD12 RAPGEF2 MARCHF6
5 adolescence-adult electroclinical syndrome 9.3 STARD7 SAMD12 RAPGEF2 DAB1
6 epilepsy, familial adult myoclonic, 6 8.9 YEATS2 STARD7 RAPGEF2 MARCHF6 DAB1
7 epilepsy, familial adult myoclonic, 2 8.7 YEATS2 STARD7 SAMD12 RAPGEF2 MARCHF6 DAB1
8 epilepsy, familial adult myoclonic, 1 8.6 YEATS2 STARD7 SAMD12 RAPGEF2 MARCHF6 DAB1
9 familial adult myoclonic epilepsy 8.6 YEATS2 STARD7 SAMD12 RAPGEF2 MARCHF6 DAB1

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 7:



Diseases related to Epilepsy, Familial Adult Myoclonic, 7

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 7

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 7:

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 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)
seizures (infrequent)

Clinical features from OMIM®:

618075 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 7

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 7

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 7

Genetic tests related to Epilepsy, Familial Adult Myoclonic, 7:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Adult Myoclonic, 7 29 RAPGEF2

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 7

Publications for Epilepsy, Familial Adult Myoclonic, 7

Articles related to Epilepsy, Familial Adult Myoclonic, 7:

# 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, 7

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAPGEF2 RAPGEF2, 5-BP INS, TTTCA(n) Insertion Pathogenic 559389 GRCh37:
GRCh38:
2 RAPGEF2 NM_001351724.3(RAPGEF2):c.5033-8A>G SNV Uncertain significance 982725 GRCh37: 4:160279258-160279258
GRCh38: 4:159358106-159358106
3 RAPGEF2 NM_001351724.3(RAPGEF2):c.819G>C (p.Glu273Asp) SNV Uncertain significance 996945 GRCh37: 4:160235886-160235886
GRCh38: 4:159314734-159314734

Expression for Epilepsy, Familial Adult Myoclonic, 7

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 7.

Pathways for Epilepsy, Familial Adult Myoclonic, 7

GO Terms for Epilepsy, Familial Adult Myoclonic, 7

Biological processes related to Epilepsy, Familial Adult Myoclonic, 7 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, 7

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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