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EPM9
MCID: EPL154
MIFTS: 24

Epilepsy, Progressive Myoclonic, 9 (EPM9)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes
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Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

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MalaCards integrated aliases for Epilepsy, Progressive Myoclonic, 9:

Name: Epilepsy, Progressive Myoclonic, 9 57 29 6
Epm9 57 59 75
Progressive Myoclonic Epilepsy Due to Lmnb2 Deficiency 59
Progressive Myoclonic Epilepsy Type 9 59
Progressive Myoclonus Epilepsy Type 9 59
Epilepsy, Progressive Myoclonic 9 75
Pme Type 9 59

Characteristics:

Orphanet epidemiological data:

59
progressive myoclonic epilepsy type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the first decade
two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)


HPO:

32
epilepsy, progressive myoclonic, 9:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


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Summaries for Epilepsy, Progressive Myoclonic, 9

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UniProtKB/Swiss-Prot : 75 Epilepsy, progressive myoclonic 9: An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development.

MalaCards based summary : Epilepsy, Progressive Myoclonic, 9, also known as epm9, is related to lipodystrophy, partial, acquired. An important gene associated with Epilepsy, Progressive Myoclonic, 9 is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Gastric Cancer Network 2. Affiliated tissues include tongue, and related phenotypes are scoliosis and global developmental delay

Description from OMIM: 616540
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Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
myoclonus
gait ataxia
status epilepticus
enlarged ventricles (patient a)
more
Muscle Soft Tissue:
muscle atrophy, diffuse
loss of subcutaneous fat, diffuse

Skeletal Hands:
curved digits (patient a)
short thumbs (patient a)

Skeletal Spine:
scoliosis

Head And Neck Mouth:
small tongue (patient a)


Clinical features from OMIM:

616540

Human phenotypes related to Epilepsy, Progressive Myoclonic, 9:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 global developmental delay 32 HP:0001263
3 myoclonus 32 HP:0001336
4 gait ataxia 32 HP:0002066
5 ventriculomegaly 32 HP:0002119
6 status epilepticus 32 HP:0002133
7 generalized amyotrophy 32 HP:0003700
8 short thumb 32 HP:0009778
9 microglossia 32 HP:0000171
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Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

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Search Clinical Trials , NIH Clinical Center for Epilepsy, Progressive Myoclonic, 9

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Genetic Tests for Epilepsy, Progressive Myoclonic, 9

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Genetic tests related to Epilepsy, Progressive Myoclonic, 9:

# Genetic test Affiliating Genes
1 Epilepsy, Progressive Myoclonic, 9 29 LMNB2
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Anatomical Context for Epilepsy, Progressive Myoclonic, 9

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MalaCards organs/tissues related to Epilepsy, Progressive Myoclonic, 9:

41
Tongue
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Publications for Epilepsy, Progressive Myoclonic, 9

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Variations for Epilepsy, Progressive Myoclonic, 9

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

75
# Symbol AA change Variation ID SNP ID
1 LMNB2 p.His157Tyr VAR_074170 rs797045143

ClinVar genetic disease variations for Epilepsy, Progressive Myoclonic, 9:

6 (show top 50) (show all 120)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNB2 NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln) single nucleotide variant Benign rs121912497 GRCh37 Chromosome 19, 2435150: 2435150
2 LMNB2 NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln) single nucleotide variant Benign rs121912497 GRCh38 Chromosome 19, 2435152: 2435152
3 LMNB2 NM_032737.3(LMNB2): c.469C> T (p.His157Tyr) single nucleotide variant Pathogenic rs797045143 GRCh38 Chromosome 19, 2438464: 2438464
4 LMNB2 NM_032737.3(LMNB2): c.469C> T (p.His157Tyr) single nucleotide variant Pathogenic rs797045143 GRCh37 Chromosome 19, 2438462: 2438462
5 LMNB2 NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr) single nucleotide variant Uncertain significance rs760189690 GRCh37 Chromosome 19, 2431792: 2431792
6 LMNB2 NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr) single nucleotide variant Uncertain significance rs760189690 GRCh38 Chromosome 19, 2431794: 2431794
7 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh37 Chromosome 19, 2435050: 2435050
8 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh38 Chromosome 19, 2435052: 2435052
9 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh38 Chromosome 19, 2438531: 2438531
10 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh37 Chromosome 19, 2438529: 2438529
11 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh38 Chromosome 19, 2434921: 2434921
12 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh37 Chromosome 19, 2434919: 2434919
13 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh38 Chromosome 19, 2431544: 2431544
14 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh37 Chromosome 19, 2431542: 2431542
15 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh38 Chromosome 19, 2431786: 2431786
16 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh37 Chromosome 19, 2431784: 2431784
17 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh38 Chromosome 19, 2431795: 2431795
18 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh37 Chromosome 19, 2431793: 2431793
19 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh38 Chromosome 19, 2435041: 2435041
20 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh37 Chromosome 19, 2435039: 2435039
21 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh38 Chromosome 19, 2438490: 2438490
22 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh37 Chromosome 19, 2438488: 2438488
23 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh37 Chromosome 19, 2444456: 2444456
24 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh38 Chromosome 19, 2444458: 2444458
25 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh38 Chromosome 19, 2432431: 2432431
26 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh37 Chromosome 19, 2432429: 2432429
27 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh38 Chromosome 19, 2433964: 2433964
28 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh37 Chromosome 19, 2433962: 2433962
29 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh38 Chromosome 19, 2433976: 2433976
30 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh37 Chromosome 19, 2433974: 2433974
31 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh38 Chromosome 19, 2434087: 2434087
32 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh37 Chromosome 19, 2434085: 2434085
33 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh38 Chromosome 19, 2438370: 2438370
34 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh37 Chromosome 19, 2438368: 2438368
35 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh38 Chromosome 19, 2438493: 2438493
36 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh37 Chromosome 19, 2438491: 2438491
37 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh38 Chromosome 19, 2438505: 2438505
38 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh37 Chromosome 19, 2438503: 2438503
39 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh38 Chromosome 19, 2432452: 2432452
40 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh37 Chromosome 19, 2432450: 2432450
41 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh38 Chromosome 19, 2433905: 2433905
42 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh37 Chromosome 19, 2433903: 2433903
43 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh38 Chromosome 19, 2433945: 2433945
44 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh37 Chromosome 19, 2433943: 2433943
45 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh38 Chromosome 19, 2434052: 2434052
46 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh37 Chromosome 19, 2434050: 2434050
47 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance GRCh38 Chromosome 19, 2430957: 2430964
48 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance GRCh37 Chromosome 19, 2430955: 2430962
49 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh38 Chromosome 19, 2431811: 2431811
50 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh37 Chromosome 19, 2431809: 2431809
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Expression for Epilepsy, Progressive Myoclonic, 9

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Search GEO for disease gene expression data for Epilepsy, Progressive Myoclonic, 9.
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Pathways for Epilepsy, Progressive Myoclonic, 9

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Pathways related to Epilepsy, Progressive Myoclonic, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Apoptosis and survival Caspase cascade 22
Show member pathways
 11.22 LMNB2 MIR7108
2
Gastric Cancer Network 2 1
10.14 LMNB2 MIR7108
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GO Terms for Epilepsy, Progressive Myoclonic, 9

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Sources for Epilepsy, Progressive Myoclonic, 9

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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