FAME5
MCID: EPL103
MIFTS: 37

Epilepsy, Familial Adult Myoclonic, 5 (FAME5)

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

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 5

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 5:

Name: Epilepsy, Familial Adult Myoclonic, 5 56 73 29 6 71
Fcmte5 56 12 73
Fame5 56 12 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 5 56 73
Familial Adult Myoclonic Epilepsy 5 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 5; Fcmte5 56
Familial Cortical Myoclonic Tremor with Epilepsy 5 73
Familial Cortical Myoclonic Tremor and Epilepsy 5 12
Epilepsy, Myoclonic, Familial Adult, Type 5 39
Epilepsy, Myoclonic, Familial Adult, 5 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated september 2013)
onset in the second decade
tremors develop after seizures
good seizure control with medication


HPO:

31
epilepsy, familial adult myoclonic, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111691
OMIM 56 615400
OMIM Phenotypic Series 56 PS601068
MeSH 43 D004831
MedGen 41 C3809374
SNOMED-CT via HPO 68 258211005 26079004 54200006
UMLS 71 C3809374

Summaries for Epilepsy, Familial Adult Myoclonic, 5

UniProtKB/Swiss-Prot : 73 Epilepsy, familial adult myoclonic, 5: 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. FAME5 is characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Inheritance is autosomal recessive.

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 5, also known as fcmte5, is related to mixed cerebral palsy and parkinson disease 14, autosomal recessive, and has symptoms including depressive symptoms and myoclonic seizures. An important gene associated with Epilepsy, Familial Adult Myoclonic, 5 is CNTN2 (Contactin 2), and among its related pathways/superpathways are Alpha-synuclein signaling and Sympathetic Nerve Pathway (Neuroeffector Junction). Related phenotypes are tremor and bilateral tonic-clonic seizure

Disease Ontology : 12 A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has material basis in homozygous or compound heterozygous mutation in CNTN2 on chromosome 1q32.1.

OMIM : 56 Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013). (615400)

Related Diseases for Epilepsy, Familial Adult Myoclonic, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 mixed cerebral palsy 10.2 SLC6A3 ACMSD
2 parkinson disease 14, autosomal recessive 10.1 SNCA PLA2G6
3 epilepsy, familial adult myoclonic, 4 10.1 KCNMB3 HTR3D CTNND2 ACMSD
4 parkinson disease 15, autosomal recessive early-onset 10.0 SNCA PLA2G6
5 von economo's disease 10.0 SNCA SLC6A3
6 epilepsy, familial adult myoclonic, 3 10.0 CTNND2 ADRA2B ACMSD
7 akinetic mutism 10.0 SNCA SLC6A3
8 postencephalitic parkinson disease 10.0 SNCA SLC6A3
9 dopamine beta-hydroxylase deficiency 10.0 SNCA ADRA2B
10 parkinson disease 4, autosomal dominant 10.0 SNCA SLC6A3
11 neurodegeneration with brain iron accumulation 2a 9.9 SNCA PLA2G6
12 neurodegeneration with brain iron accumulation 1 9.9 SNCA PLA2G6
13 communicating hydrocephalus 9.9 SNCA SLC6A3
14 striatonigral degeneration 9.9 SNCA SLC6A3
15 epilepsy, familial adult myoclonic, 2 9.8 CTNND2 ADRA2B ACOT8 ACMSD
16 kufor-rakeb syndrome 9.8 SNCA SLC6A3 PLA2G6
17 neurodegeneration with brain iron accumulation 9.7 SNCA SLC6A3 PLA2G6
18 rem sleep behavior disorder 9.7 SNCA SLC6A3
19 tremor 9.6 SNCA CNTN2 CACNA1A
20 pervasive developmental disorder 9.6 SNCA SLC6A3 SEMA5A CTNND2
21 aceruloplasminemia 9.5 SNCA PLA2G6 CACNA1A
22 olivopontocerebellar atrophy 9.4 SNCA SLC6A3 CACNA1A
23 machado-joseph disease 9.4 SNCA SLC6A3 CACNA1A
24 restless legs syndrome 9.3 SNCA SLC6A3 CACNA1A
25 spinocerebellar ataxia 17 9.2 SLC6A3 CACNA1A
26 movement disease 9.2 SNCA SLC6A3 PLA2G6 CACNA1A
27 parkinson disease, late-onset 8.9 SNCA SLC6A3 PLA2G6 CACNA1A ACMSD
28 familial adult myoclonic epilepsy 8.2 SNCA NOL3 KCNMB3 HTR3D CTNND2 CNTN2

Graphical network of the top 20 diseases related to Epilepsy, Familial Adult Myoclonic, 5:



Diseases related to Epilepsy, Familial Adult Myoclonic, 5

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 5

Human phenotypes related to Epilepsy, Familial Adult Myoclonic, 5:

31
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 bilateral tonic-clonic seizure 31 HP:0002069
3 focal sensory seizure with visual features 31 HP:0011165

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
depressive symptoms

Neurologic Central Nervous System:
head nodding
seizures, focal
seizures, myoclonic
generalized tonic-clonic seizures (gtcs)
auditory, olfactory, and visual auras
more

Clinical features from OMIM:

615400

UMLS symptoms related to Epilepsy, Familial Adult Myoclonic, 5:


depressive symptoms, myoclonic seizures

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 5

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 5

Genetic tests related to Epilepsy, Familial Adult Myoclonic, 5:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Adult Myoclonic, 5 29 CNTN2

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 5

Publications for Epilepsy, Familial Adult Myoclonic, 5

Articles related to Epilepsy, Familial Adult Myoclonic, 5:

# Title Authors PMID Year
1
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. 6 56
23518707 2013
2
Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 56
23803302 2013
3
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 56
23803304 2013

Variations for Epilepsy, Familial Adult Myoclonic, 5

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 5:

6 (show top 50) (show all 136) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNTN2 NM_005076.5(CNTN2):c.504del (p.Trp168fs)deletion Pathogenic 64618 rs398122387 1:205028227-205028227 1:205059099-205059099
2 CNTN2 NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu)SNV Conflicting interpretations of pathogenicity 422019 rs145352110 1:205034351-205034351 1:205065223-205065223
3 CNTN2 NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe)SNV Conflicting interpretations of pathogenicity 445932 rs142502980 1:205028229-205028229 1:205059101-205059101
4 CNTN2 NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)SNV Conflicting interpretations of pathogenicity 474462 rs147693556 1:205033764-205033764 1:205064636-205064636
5 CNTN2 NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile)SNV Conflicting interpretations of pathogenicity 474493 rs139732336 1:205030522-205030522 1:205061394-205061394
6 CNTN2 NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)SNV Conflicting interpretations of pathogenicity 522750 rs371816961 1:205031094-205031094 1:205061966-205061966
7 CNTN2 NM_005076.5(CNTN2):c.215+6G>CSNV Uncertain significance 541410 rs370377460 1:205027199-205027199 1:205058071-205058071
8 CNTN2 NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser)SNV Uncertain significance 541411 rs191357187 1:205033770-205033770 1:205064642-205064642
9 CNTN2 NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter)SNV Uncertain significance 541408 rs537026414 1:205028310-205028310 1:205059182-205059182
10 CNTN2 NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn)SNV Uncertain significance 541409 rs201107921 1:205041138-205041138 1:205072010-205072010
11 CNTN2 NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys)SNV Uncertain significance 541413 rs1332074487 1:205031682-205031682 1:205062554-205062554
12 CNTN2 NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys)SNV Uncertain significance 571442 rs763492479 1:205027162-205027162 1:205058034-205058034
13 CNTN2 NM_005076.5(CNTN2):c.635A>T (p.His212Leu)SNV Uncertain significance 579679 rs1558542528 1:205028359-205028359 1:205059231-205059231
14 CNTN2 NM_005076.5(CNTN2):c.1295G>A (p.Arg432His)SNV Uncertain significance 571898 rs200098924 1:205033504-205033504 1:205064376-205064376
15 CNTN2 NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser)SNV Uncertain significance 572166 rs201649365 1:205041216-205041216 1:205072088-205072088
16 CNTN2 NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys)SNV Uncertain significance 567426 rs377098737 1:205027328-205027328 1:205058200-205058200
17 CNTN2 NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser)SNV Uncertain significance 574017 rs143259493 1:205027728-205027728 1:205058600-205058600
18 CNTN2 NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu)SNV Uncertain significance 570380 rs140570612 1:205035572-205035572 1:205066444-205066444
19 CNTN2 NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr)SNV Uncertain significance 569145 rs562711151 1:205035667-205035667 1:205066539-205066539
20 CNTN2 NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln)SNV Uncertain significance 572426 rs373583840 1:205041620-205041620 1:205072492-205072492
21 CNTN2 NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala)SNV Uncertain significance 569022 rs1191773782 1:205028758-205028758 1:205059630-205059630
22 CNTN2 NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly)SNV Uncertain significance 573733 rs1040227835 1:205033854-205033854 1:205064726-205064726
23 CNTN2 NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu)SNV Uncertain significance 572212 rs1262628184 1:205035715-205035715 1:205066587-205066587
24 CNTN2 NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=)SNV Uncertain significance 577894 rs975151766 1:205042836-205042836 1:205073708-205073708
25 CNTN2 NM_005076.5(CNTN2):c.1367C>T (p.Thr456Met)SNV Uncertain significance 578301 rs770143299 1:205033576-205033576 1:205064448-205064448
26 CNTN2 NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met)SNV Uncertain significance 570434 rs752800918 1:205042230-205042230 1:205073102-205073102
27 CNTN2 NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr)SNV Uncertain significance 565414 rs909612337 1:205042808-205042808 1:205073680-205073680
28 CNTN2 NM_005076.5(CNTN2):c.158C>T (p.Thr53Met)SNV Uncertain significance 646247 1:205027136-205027136 1:205058008-205058008
29 CNTN2 NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln)SNV Uncertain significance 657675 1:205030488-205030488 1:205061360-205061360
30 CNTN2 NM_005076.5(CNTN2):c.949G>A (p.Val317Met)SNV Uncertain significance 665352 1:205030524-205030524 1:205061396-205061396
31 CNTN2 NM_005076.5(CNTN2):c.1034G>A (p.Arg345His)SNV Uncertain significance 640931 1:205031053-205031053 1:205061925-205061925
32 CNTN2 NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser)SNV Uncertain significance 662506 1:205031628-205031628 1:205062500-205062500
33 CNTN2 NM_005076.5(CNTN2):c.1290G>A (p.Ala430=)SNV Uncertain significance 646327 1:205033499-205033499 1:205064371-205064371
34 CNTN2 NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp)SNV Uncertain significance 654139 1:205033797-205033797 1:205064669-205064669
35 CNTN2 NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln)SNV Uncertain significance 649086 1:205033798-205033798 1:205064670-205064670
36 CNTN2 NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter)SNV Uncertain significance 659979 1:205033875-205033875 1:205064747-205064747
37 CNTN2 NM_005076.5(CNTN2):c.1555G>A (p.Asp519Asn)SNV Uncertain significance 645327 1:205034250-205034250 1:205065122-205065122
38 CNTN2 NM_005076.5(CNTN2):c.1986C>A (p.Asn662Lys)SNV Uncertain significance 648640 1:205036239-205036239 1:205067111-205067111
39 CNTN2 NM_005076.5(CNTN2):c.2002G>A (p.Glu668Lys)SNV Uncertain significance 641467 1:205036255-205036255 1:205067127-205067127
40 CNTN2 NM_005076.5(CNTN2):c.2026A>G (p.Thr676Ala)SNV Uncertain significance 639668 1:205036279-205036279 1:205067151-205067151
41 CNTN2 NM_005076.5(CNTN2):c.2104A>G (p.Lys702Glu)SNV Uncertain significance 650147 1:205036357-205036357 1:205067229-205067229
42 CNTN2 NM_005076.5(CNTN2):c.2483A>G (p.Glu828Gly)SNV Uncertain significance 664206 1:205039605-205039605 1:205070477-205070477
43 CNTN2 NM_005076.5(CNTN2):c.2506G>A (p.Val836Met)SNV Uncertain significance 643988 1:205039628-205039628 1:205070500-205070500
44 CNTN2 NM_005076.5(CNTN2):c.2514G>C (p.Gln838His)SNV Uncertain significance 665221 1:205039636-205039636 1:205070508-205070508
45 CNTN2 NM_005076.5(CNTN2):c.2629G>A (p.Gly877Ser)SNV Uncertain significance 647798 1:205041159-205041159 1:205072031-205072031
46 CNTN2 NM_005076.5(CNTN2):c.3050C>T (p.Pro1017Leu)SNV Uncertain significance 662176 1:205042820-205042820 1:205073692-205073692
47 CNTN2 NM_005076.5(CNTN2):c.3092T>C (p.Met1031Thr)SNV Uncertain significance 653996 1:205042862-205042862 1:205073734-205073734
48 CNTN2 NM_005076.5(CNTN2):c.3013+6G>CSNV Uncertain significance 649375 1:205042370-205042370 1:205073242-205073242
49 CNTN2 NM_005076.5(CNTN2):c.2544+3G>ASNV Uncertain significance 658932 1:205039669-205039669 1:205070541-205070541
50 CNTN2 NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro)SNV Uncertain significance 474463 rs1362090710 1:205033800-205033800 1:205064672-205064672

Expression for Epilepsy, Familial Adult Myoclonic, 5

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 5.

Pathways for Epilepsy, Familial Adult Myoclonic, 5

Pathways related to Epilepsy, Familial Adult Myoclonic, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.46 SNCA SLC6A3
2 9.98 CACNA1A ADRA2B

GO Terms for Epilepsy, Familial Adult Myoclonic, 5

Cellular components related to Epilepsy, Familial Adult Myoclonic, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.47 UBR5 SNCA SLC6A3 SLC30A8 SEMA5A PLA2G6
2 neuronal cell body GO:0043025 9.26 SNCA SLC6A3 CNTN2 CACNA1A

Biological processes related to Epilepsy, Familial Adult Myoclonic, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adult walking behavior GO:0007628 9.43 CNTN2 CACNA1A
2 positive regulation of exocytosis GO:0045921 9.4 SNCA PLA2G6
3 response to interferon-gamma GO:0034341 9.37 SNCA SLC30A8
4 regulation of neuronal synaptic plasticity GO:0048168 9.32 SNCA CNTN2
5 axonal fasciculation GO:0007413 9.26 SEMA5A CNTN2
6 protein complex oligomerization GO:0051259 9.16 SNCA NOL3
7 dopamine biosynthetic process GO:0042416 8.96 SNCA SLC6A3
8 dopamine uptake involved in synaptic transmission GO:0051583 8.62 SNCA SLC6A3

Molecular functions related to Epilepsy, Familial Adult Myoclonic, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 YARS1 UBR5 SNCA SLC6A3 SLC30A8 SEMA5A
2 cysteine-type endopeptidase inhibitor activity involved in apoptotic process GO:0043027 9.26 SNCA NOL3
3 palmitoyl-CoA hydrolase activity GO:0016290 9.16 PLA2G6 ACOT8
4 myristoyl-CoA hydrolase activity GO:0102991 8.96 PLA2G6 ACOT8

Sources for Epilepsy, Familial Adult Myoclonic, 5

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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