FAME3
MCID: EPL053
MIFTS: 27

Epilepsy, Familial Adult Myoclonic, 3 (FAME3)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 3

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 3:

Name: Epilepsy, Familial Adult Myoclonic, 3 56 73 6 71
Fcmte3 56 12 73
Fame3 56 12 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 3 56 73
Familial Adult Myoclonic Epilepsy 3 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 3; Fcmte3 56
Familial Cortical Myoclonic Tremor and Epilepsy 3 12
Epilepsy, Myoclonic, Familial Adult, Type 3 39
Epilepsy, Myoclonic, Familial Adult, 3 13

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
childhood onset has been reported
movements ('tremors') characterized by 8 to 10-hz discharges
nonprogressive course
tremor may be elicited by movement or postural maintenance
anticonvulsants are effective (phenobarbital, valproic acid, benzodiazepines)
tremor is aggravated by low glucose or light

Inheritance:
autosomal dominant


HPO:

31
epilepsy, familial adult myoclonic, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset nonprogressive childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111695
OMIM 56 613608
OMIM Phenotypic Series 56 PS601068
MeSH 43 D004831
MedGen 41 C3150860
UMLS 71 C3150860

Summaries for Epilepsy, Familial Adult Myoclonic, 3

OMIM : 56 Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068). (613608)

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 3, also known as fcmte3, is related to epilepsy, familial adult myoclonic, 1 and epilepsy, familial adult myoclonic, 2. An important gene associated with Epilepsy, Familial Adult Myoclonic, 3 is FAME3 (Epilepsy, Familial Adult Myoclonic, 3). Related phenotypes are myoclonus and tremor

Disease Ontology : 12 A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has material basis in a heterozygous 5-bp repeat expansion in MARCHF6 on chromosome 5p15.2.

UniProtKB/Swiss-Prot : 73 Epilepsy, familial adult myoclonic, 3: 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. FAME3 inheritance is autosomal dominant.

Related Diseases for Epilepsy, Familial Adult Myoclonic, 3

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

Diseases related to Epilepsy, Familial Adult Myoclonic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial adult myoclonic, 1 30.1 SAMD12 MARCHF6 CTNND2
2 epilepsy, familial adult myoclonic, 2 27.7 SAMD12 PPP1R3F MTARC2 MARCHF6 CTNND2 ADRA2B
3 familial adult myoclonic epilepsy 27.0 TBC1D24 SAMD12 PPP1R3F MTARC2 MARCHF6 CTNND2
4 myoclonic epilepsy of unverricht and lundborg 10.2
5 epilepsy, progressive myoclonic, 4, with or without renal failure 10.2
6 myoclonus 10.2
7 tremor 10.2
8 epilepsy, familial adult myoclonic, 7 10.1 SAMD12 MARCHF6
9 cri-du-chat syndrome 10.1 MARCHF6 CTNND2
10 epilepsy, familial adult myoclonic, 6 10.1 SAMD12 MARCHF6
11 epilepsy, familial adult myoclonic, 4 10.1 CTNND2 ACMSD
12 chromosomal deletion syndrome 9.8 H2AC18 CTNND2
13 sexual disorder 9.7 H2AC18 ADRA2B
14 epilepsy, familial adult myoclonic, 5 9.6 CTNND2 ADRA2B ACMSD
15 learning disability 9.5 TBC1D24 H2AC18
16 epilepsy 9.3 TBC1D24 SAMD12 MARCHF6 ADRA2B

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 3:



Diseases related to Epilepsy, Familial Adult Myoclonic, 3

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 3

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 myoclonus 31 HP:0001336
2 tremor 31 HP:0001337
3 focal-onset seizure 31 HP:0007359
4 difficulty walking 31 HP:0002355
5 giant somatosensory evoked potentials 31 HP:0001312
6 bilateral tonic-clonic seizure 31 HP:0002069
7 eeg with photoparoxysmal response 31 HP:0010852
8 enhancement of the c-reflex 31 HP:0001340
9 jerk-locked premyoclonus spikes 31 HP:0001351

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
enhancement of the c-reflex
jerk-locked premyoclonus spikes
generalized and focal spike and wave complexes seen on eeg
electrophysiologic studies indicate cortical origin
partial seizures
more

Clinical features from OMIM:

613608

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 3

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 3

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 3

Publications for Epilepsy, Familial Adult Myoclonic, 3

Articles related to Epilepsy, Familial Adult Myoclonic, 3:

# Title Authors PMID Year
1
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. 61 6 56
31664039 2019
2
Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. 56 6
19616813 2009
3
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 56
29127138 2017
4
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. 56
20548044 2010
5
Familial cortical tremor with epilepsy and cerebellar pathological findings. 56
14978679 2004
6
A Dutch family with 'familial cortical tremor with epilepsy'. Clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1. 56
12140665 2002
7
Fractional flow reserve in 2017: current data and everyday practice. 61
28475383 2017
8
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. 61
21850007 2011
9
A comparative clinical assessment of combination chemotherapy in the management of advanced gastric carcinoma: The Gastrointestinal Tumor study Group. 61
7037163 1982

Variations for Epilepsy, Familial Adult Myoclonic, 3

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 3:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MARCHF6 NM_005885.4(MARCHF6):c.19+2427TTTAT[641]short repeat Pathogenic 635281 5:10356455-10356456 5:10356343-10356344
2 MARCHF6 MARCHF6, TTTCA(n) REPEAT EXPANSION, IVS1NT expansion Pathogenic 694446

Expression for Epilepsy, Familial Adult Myoclonic, 3

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 3.

Pathways for Epilepsy, Familial Adult Myoclonic, 3

GO Terms for Epilepsy, Familial Adult Myoclonic, 3

Sources for Epilepsy, Familial Adult Myoclonic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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