FAME5
MCID: EPL103
MIFTS: 34

Epilepsy, Familial Adult Myoclonic, 5 (FAME5)

Categories: Genetic diseases, Metabolic diseases, Muscle 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 57 73 29 6 71
Fcmte5 57 12 73
Fame5 57 12 73
Cortical Myoclonic Tremor with Epilepsy, Familial, 5 57 73
Familial Adult Myoclonic Epilepsy 5 12 15
Cortical Myoclonic Tremor with Epilepsy, Familial, 5; Fcmte5 57
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 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 615400
OMIM Phenotypic Series 57 PS601068
MeSH 44 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 epilepsy, familial adult myoclonic, 1 and epilepsy, familial adult myoclonic, 4, 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 is 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® : 57 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) (Updated 05-Mar-2021)

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 Epilepsy, Progressive Myoclonic, 12
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 11)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial adult myoclonic, 1 10.1 CTNND2 ADRA2B
2 epilepsy, familial adult myoclonic, 4 10.0 KCNMB3 HTR3D ADRA2B
3 epilepsy, familial adult myoclonic, 3 10.0 CTNND2 ADRA2B ACMSD
4 epilepsy, familial adult myoclonic, 2 9.9 CTNND2 ADRA2B ACMSD
5 kufor-rakeb syndrome 9.8 SLC6A3 PLA2G6
6 cri-du-chat syndrome 9.8 SEMA5A CTNND2
7 olivopontocerebellar atrophy 9.6 SLC6A3 CACNA1A
8 spinocerebellar ataxia 17 9.6 SLC6A3 CACNA1A
9 movement disease 9.4 SLC6A3 PLA2G6 CACNA1A
10 disease of mental health 8.7 SLC6A3 SEMA5A PLA2G6 CTNND2 CNTN2 CACNA1A
11 familial adult myoclonic epilepsy 8.4 UBR5 PLA2G6 NOL3 KCNMB3 HTR3D CTNND2

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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. 57 6
23518707 2013
2
Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 57
23803302 2013
3
Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. 57
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 156)
# 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.1405C>A (p.Pro469Thr) SNV Conflicting interpretations of pathogenicity 474462 rs147693556 1:205033764-205033764 1:205064636-205064636
3 CNTN2 NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) SNV Conflicting interpretations of pathogenicity 522750 rs371816961 1:205031094-205031094 1:205061966-205061966
4 CNTN2 NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) SNV Uncertain significance 541408 rs537026414 1:205028310-205028310 1:205059182-205059182
5 CNTN2 NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn) SNV Uncertain significance 541409 rs201107921 1:205041138-205041138 1:205072010-205072010
6 CNTN2 NM_005076.5(CNTN2):c.215+6G>C SNV Uncertain significance 541410 rs370377460 1:205027199-205027199 1:205058071-205058071
7 CNTN2 NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser) SNV Uncertain significance 541411 rs191357187 1:205033770-205033770 1:205064642-205064642
8 CNTN2 NM_005076.5(CNTN2):c.2677C>T (p.Arg893Trp) SNV Uncertain significance 541412 rs149814483 1:205041207-205041207 1:205072079-205072079
9 CNTN2 NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys) SNV Uncertain significance 541413 rs1332074487 1:205031682-205031682 1:205062554-205062554
10 CNTN2 NM_005076.5(CNTN2):c.2162G>A (p.Gly721Asp) SNV Uncertain significance 834729 1:205038655-205038655 1:205069527-205069527
11 CNTN2 NM_005076.5(CNTN2):c.1141C>T (p.Arg381Trp) SNV Uncertain significance 836800 1:205031598-205031598 1:205062470-205062470
12 CNTN2 NM_005076.5(CNTN2):c.1507C>G (p.Leu503Val) SNV Uncertain significance 836973 1:205033866-205033866 1:205064738-205064738
13 CNTN2 NM_005076.5(CNTN2):c.2886C>G (p.His962Gln) SNV Uncertain significance 837129 1:205042237-205042237 1:205073109-205073109
14 CNTN2 NM_005076.5(CNTN2):c.850T>C (p.Trp284Arg) SNV Uncertain significance 842886 1:205030425-205030425 1:205061297-205061297
15 CNTN2 NM_005076.5(CNTN2):c.2273_2274delinsAT (p.Trp758Tyr) Indel Uncertain significance 423039 rs1064796187 1:205039031-205039032 1:205069903-205069904
16 CNTN2 NM_005076.5(CNTN2):c.383G>A (p.Arg128His) SNV Uncertain significance 846016 1:205027476-205027476 1:205058348-205058348
17 CNTN2 NM_005076.5(CNTN2):c.1970G>A (p.Arg657Gln) SNV Uncertain significance 847474 1:205035722-205035722 1:205066594-205066594
18 CNTN2 NM_005076.5(CNTN2):c.1888C>T (p.Arg630Cys) SNV Uncertain significance 847875 1:205035640-205035640 1:205066512-205066512
19 CNTN2 NM_005076.5(CNTN2):c.215+6G>A SNV Uncertain significance 848625 1:205027199-205027199 1:205058071-205058071
20 CNTN2 NM_005076.5(CNTN2):c.731G>A (p.Arg244Gln) SNV Uncertain significance 848975 1:205028744-205028744 1:205059616-205059616
21 CNTN2 NM_005076.5(CNTN2):c.967G>A (p.Val323Met) SNV Uncertain significance 851108 1:205030542-205030542 1:205061414-205061414
22 CNTN2 NM_005076.5(CNTN2):c.305A>C (p.Lys102Thr) SNV Uncertain significance 853752 1:205027398-205027398 1:205058270-205058270
23 CNTN2 NM_005076.5(CNTN2):c.1739G>A (p.Arg580His) SNV Uncertain significance 854708 1:205034960-205034960 1:205065832-205065832
24 CNTN2 NM_005076.5(CNTN2):c.545G>A (p.Arg182His) SNV Uncertain significance 855428 1:205028269-205028269 1:205059141-205059141
25 CNTN2 NM_005076.5(CNTN2):c.1277G>A (p.Arg426His) SNV Uncertain significance 855593 1:205033486-205033486 1:205064358-205064358
26 CNTN2 NM_005076.5(CNTN2):c.1028A>G (p.Asn343Ser) SNV Uncertain significance 855756 1:205031047-205031047 1:205061919-205061919
27 CNTN2 NM_005076.5(CNTN2):c.3122G>A (p.Ter1041=) SNV Uncertain significance 855857 1:205042892-205042892 1:205073764-205073764
28 CNTN2 NM_005076.5(CNTN2):c.2037G>A (p.Met679Ile) SNV Uncertain significance 856105 1:205036290-205036290 1:205067162-205067162
29 CNTN2 NM_005076.5(CNTN2):c.2380C>T (p.Arg794Cys) SNV Uncertain significance 856226 1:205039138-205039138 1:205070010-205070010
30 CNTN2 NM_005076.5(CNTN2):c.1289C>T (p.Ala430Val) SNV Uncertain significance 856704 1:205033498-205033498 1:205064370-205064370
31 CNTN2 NM_005076.5(CNTN2):c.3001G>A (p.Val1001Met) SNV Uncertain significance 863662 1:205042352-205042352 1:205073224-205073224
32 CNTN2 NM_005076.5(CNTN2):c.854C>T (p.Thr285Ile) SNV Uncertain significance 864153 1:205030429-205030429 1:205061301-205061301
33 CNTN2 NM_005076.5(CNTN2):c.973+5A>G SNV Uncertain significance 935442 1:205030553-205030553 1:205061425-205061425
34 CNTN2 NM_005076.5(CNTN2):c.2196+5G>A SNV Uncertain significance 936462 1:205038694-205038694 1:205069566-205069566
35 CNTN2 NM_005076.5(CNTN2):c.2893G>A (p.Gly965Ser) SNV Uncertain significance 939281 1:205042244-205042244 1:205073116-205073116
36 CNTN2 NM_005076.5(CNTN2):c.2711A>G (p.Asn904Ser) SNV Uncertain significance 807905 rs149058423 1:205041241-205041241 1:205072113-205072113
37 CNTN2 NM_005076.5(CNTN2):c.886G>A (p.Val296Ile) SNV Uncertain significance 942325 1:205030461-205030461 1:205061333-205061333
38 CNTN2 NM_005076.5(CNTN2):c.1414A>T (p.Thr472Ser) SNV Uncertain significance 942732 1:205033773-205033773 1:205064645-205064645
39 CNTN2 NM_005076.5(CNTN2):c.2050C>T (p.Arg684Trp) SNV Uncertain significance 942851 1:205036303-205036303 1:205067175-205067175
40 CNTN2 NM_005076.5(CNTN2):c.2549G>A (p.Arg850His) SNV Uncertain significance 944465 1:205041079-205041079 1:205071951-205071951
41 CNTN2 NM_005076.5(CNTN2):c.2923G>A (p.Glu975Lys) SNV Uncertain significance 946764 1:205042274-205042274 1:205073146-205073146
42 CNTN2 NM_005076.5(CNTN2):c.541G>A (p.Gly181Arg) SNV Uncertain significance 947619 1:205028265-205028265 1:205059137-205059137
43 CNTN2 NM_005076.5(CNTN2):c.415G>A (p.Glu139Lys) SNV Uncertain significance 949410 1:205027719-205027719 1:205058591-205058591
44 CNTN2 NM_005076.5(CNTN2):c.2688T>A (p.Thr896=) SNV Uncertain significance 951762 1:205041218-205041218 1:205072090-205072090
45 CNTN2 NM_005076.5(CNTN2):c.1706T>C (p.Ile569Thr) SNV Uncertain significance 953750 1:205034927-205034927 1:205065799-205065799
46 CNTN2 NM_005076.5(CNTN2):c.1425A>G (p.Ile475Met) SNV Uncertain significance 955936 1:205033784-205033784 1:205064656-205064656
47 CNTN2 NM_005076.5(CNTN2):c.2513A>C (p.Gln838Pro) SNV Uncertain significance 957284 1:205039635-205039635 1:205070507-205070507
48 CNTN2 NM_005076.5(CNTN2):c.1517G>A (p.Arg506Gln) SNV Uncertain significance 958017 1:205033876-205033876 1:205064748-205064748
49 CNTN2 NM_005076.5(CNTN2):c.1861G>A (p.Asp621Asn) SNV Uncertain significance 962948 1:205035613-205035613 1:205066485-205066485
50 CNTN2 NM_005076.5(CNTN2):c.256T>C (p.Ser86Pro) SNV Uncertain significance 966634 1:205027349-205027349 1:205058221-205058221

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 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 integral component of membrane GO:0016021 9.81 SLC6A3 SLC30A8 SEMA5A PLA2G6 KCNMB3 HTR3D
2 plasma membrane GO:0005886 9.65 SLC6A3 SLC30A8 SEMA5A PLA2G6 KCNMB3 HTR3D
3 membrane GO:0016020 9.4 UBR5 SLC6A3 SLC30A8 SEMA5A PLA2G6 NOL3

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.26 SLC30A8 KCNMB3 HTR3D CACNA1A
2 axonal fasciculation GO:0007413 8.62 SEMA5A CNTN2

Sources for Epilepsy, Familial Adult Myoclonic, 5

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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