FAME
MCID: BNG079
MIFTS: 33

Benign Adult Familial Myoclonic Epilepsy (FAME)

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

Aliases & Classifications for Benign Adult Familial Myoclonic Epilepsy

MalaCards integrated aliases for Benign Adult Familial Myoclonic Epilepsy:

Name: Benign Adult Familial Myoclonic Epilepsy 59
Familial Adult Myoclonic Epilepsy 59 37
Autosomal Dominant Cortical Myoclonus and Epilepsy 59
Epilepsy, Myoclonic, Benign Adult Familial, Type 2 73
Familial Cortical Myoclonic Tremor and Epilepsy 59
Benign Adult Familial Myoclonus Epilepsy 59
Epilepsy, Myoclonic, Familial Adult 40
Adcme 59
Bafme 59
Fcmte 59
Fame 59

Characteristics:

Orphanet epidemiological data:

59
benign adult familial myoclonic epilepsy
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: elderly;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA86814
ICD10 via Orphanet 34 G40.3
KEGG 37 H02213
UMLS 73 C1842852

Summaries for Benign Adult Familial Myoclonic Epilepsy

MalaCards based summary : Benign Adult Familial Myoclonic Epilepsy, also known as familial adult myoclonic epilepsy, is related to epilepsy, familial adult myoclonic, 2 and epilepsy, familial adult myoclonic, 1, and has symptoms including myoclonus An important gene associated with Benign Adult Familial Myoclonic Epilepsy is ADRA2B (Adrenoceptor Alpha 2B). Affiliated tissues include lung and heart, and related phenotypes are intellectual disability and eeg abnormality

Related Diseases for Benign Adult Familial Myoclonic Epilepsy

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 Type 3 Progressive Myoclonic Epilepsy Type 5
Myoclonic Epilepsy of Infancy Benign Adult Familial Myoclonic Epilepsy

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial adult myoclonic, 2 11.7
2 epilepsy, familial adult myoclonic, 1 11.6
3 epilepsy, familial adult myoclonic, 6 11.6
4 epilepsy, familial adult myoclonic, 7 11.6
5 epilepsy, familial adult myoclonic, 3 11.5
6 epilepsy, familial adult myoclonic, 4 11.3
7 epilepsy, familial adult myoclonic, 5 11.3
8 epilepsy 10.7
9 myoclonus 10.3
10 ischemic heart disease 10.2
11 heart disease 10.2
12 ischemia 10.2
13 tremor 10.2
14 status epilepticus 10.1
15 early myoclonic encephalopathy 10.1
16 night blindness 10.1
17 aortic aneurysm, familial abdominal, 1 10.1
18 myocardial infarction 10.1
19 aortic aneurysm 10.1
20 aging 10.0
21 epilepsy, idiopathic generalized 10.0
22 diabetes mellitus, noninsulin-dependent 10.0
23 diabetes mellitus 10.0
24 dentatorubral-pallidoluysian atrophy 10.0
25 myoclonus epilepsy 10.0
26 endometrial cancer 9.9
27 acute myocardial infarction 9.9
28 alcohol abuse 9.9
29 hyperlucent lung 9.9
30 bipolar i disorder 9.9
31 coronary stenosis 9.9
32 eosinophilia-myalgia syndrome 9.9
33 perrault syndrome 1 9.8 CTNND2 FCMTE1 FCMTE2

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



Diseases related to Benign Adult Familial Myoclonic Epilepsy

Symptoms & Phenotypes for Benign Adult Familial Myoclonic Epilepsy

Human phenotypes related to Benign Adult Familial Myoclonic Epilepsy:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
3 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
4 amaurosis fugax 59 32 occasional (7.5%) Occasional (29-5%) HP:0100576
5 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
6 hand tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002378
7 generalized seizures 59 Frequent (79-30%)
8 focal seizures 59 Frequent (79-30%)
9 focal-onset seizure 32 frequent (33%) HP:0007359
10 generalized-onset seizure 32 frequent (33%) HP:0002197

UMLS symptoms related to Benign Adult Familial Myoclonic Epilepsy:


myoclonus

Drugs & Therapeutics for Benign Adult Familial Myoclonic Epilepsy

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

Genetic Tests for Benign Adult Familial Myoclonic Epilepsy

Anatomical Context for Benign Adult Familial Myoclonic Epilepsy

MalaCards organs/tissues related to Benign Adult Familial Myoclonic Epilepsy:

41
Lung, Heart

Publications for Benign Adult Familial Myoclonic Epilepsy

Articles related to Benign Adult Familial Myoclonic Epilepsy:

(show all 23)
# Title Authors Year
1
ExpansionsA ofA intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. ( 29507423 )
2018
2
Altered cerebellar-cerebral functional connectivity in benign adult familial myoclonic epilepsy. ( 27037791 )
2016
3
Gray Matter Loss and Related Functional Connectivity Alterations in A Chinese Family With Benign Adult Familial Myoclonic Epilepsy. ( 26496303 )
2015
4
A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy. ( 25750529 )
2015
5
A Chinese benign adult familial myoclonic epilepsy pedigree suggesting linkage to chromosome 5p15.31-p15.1. ( 24549855 )
2014
6
Electroencephalographic features of benign adult familial myoclonic epilepsy. ( 24011985 )
2014
7
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28. ( 22713812 )
2013
8
Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. ( 22491192 )
2012
9
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family. ( 23029623 )
2012
10
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. ( 21850007 )
2011
11
(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. ( 19054410 )
2009
12
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. ( 18231815 )
2008
13
Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy. ( 17645541 )
2007
14
Familial adult myoclonic epilepsy (FAME). ( 15508931 )
2005
15
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. ( 14738428 )
2004
16
Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. ( 12707452 )
2003
17
A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. ( 12943675 )
2003
18
Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy. ( 12383276 )
2002
19
Benign adult familial myoclonic epilepsy (BAFME) with night blindness. ( 12027575 )
2002
20
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). ( 11914412 )
2002
21
Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). ( 12451228 )
2002
22
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. ( 10441581 )
1999
23
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. ( 10522869 )
1999

Variations for Benign Adult Familial Myoclonic Epilepsy

Expression for Benign Adult Familial Myoclonic Epilepsy

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

Pathways for Benign Adult Familial Myoclonic Epilepsy

GO Terms for Benign Adult Familial Myoclonic Epilepsy

Cellular components related to Benign Adult Familial Myoclonic Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 8.62 CNTN2 KCNV1

Sources for Benign Adult Familial Myoclonic Epilepsy

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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