MCID: EPL154
MIFTS: 24

Epilepsy, Progressive Myoclonic, 9

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

Aliases & Classifications for Epilepsy, Progressive Myoclonic, 9

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:

Orphanet: 59  
Rare neurological diseases


Summaries for Epilepsy, Progressive Myoclonic, 9

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 microglossia and global developmental delay

Description from OMIM: 616540

Related Diseases for Epilepsy, Progressive Myoclonic, 9

Symptoms & Phenotypes for Epilepsy, Progressive Myoclonic, 9

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 microglossia 32 HP:0000171
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 scoliosis 32 HP:0002650
8 generalized amyotrophy 32 HP:0003700
9 short thumb 32 HP:0009778

Drugs & Therapeutics for Epilepsy, Progressive Myoclonic, 9

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

Genetic Tests for Epilepsy, Progressive Myoclonic, 9

Genetic tests related to Epilepsy, Progressive Myoclonic, 9:

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

Anatomical Context for Epilepsy, Progressive Myoclonic, 9

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

41
Tongue

Publications for Epilepsy, Progressive Myoclonic, 9

Variations for Epilepsy, Progressive Myoclonic, 9

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 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNB2 NM_032737.3(LMNB2): c.469C> T (p.His157Tyr) single nucleotide variant Pathogenic rs797045143 GRCh38 Chromosome 19, 2438464: 2438464
2 LMNB2 NM_032737.3(LMNB2): c.469C> T (p.His157Tyr) single nucleotide variant Pathogenic rs797045143 GRCh37 Chromosome 19, 2438462: 2438462
3 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh38 Chromosome 19, 2435052: 2435052
4 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh37 Chromosome 19, 2435050: 2435050
5 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh38 Chromosome 19, 2438531: 2438531
6 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh37 Chromosome 19, 2438529: 2438529
7 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh37 Chromosome 19, 2434919: 2434919
8 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh38 Chromosome 19, 2434921: 2434921
9 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh38 Chromosome 19, 2431544: 2431544
10 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh37 Chromosome 19, 2431542: 2431542
11 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh38 Chromosome 19, 2431786: 2431786
12 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh37 Chromosome 19, 2431784: 2431784
13 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh38 Chromosome 19, 2431795: 2431795
14 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh37 Chromosome 19, 2431793: 2431793
15 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh38 Chromosome 19, 2435041: 2435041
16 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh37 Chromosome 19, 2435039: 2435039
17 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh38 Chromosome 19, 2438490: 2438490
18 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh37 Chromosome 19, 2438488: 2438488
19 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh38 Chromosome 19, 2444458: 2444458
20 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh37 Chromosome 19, 2444456: 2444456
21 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh38 Chromosome 19, 2432431: 2432431
22 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh37 Chromosome 19, 2432429: 2432429
23 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh38 Chromosome 19, 2433964: 2433964
24 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh37 Chromosome 19, 2433962: 2433962
25 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh38 Chromosome 19, 2433976: 2433976
26 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh37 Chromosome 19, 2433974: 2433974
27 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh38 Chromosome 19, 2434087: 2434087
28 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh37 Chromosome 19, 2434085: 2434085
29 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh37 Chromosome 19, 2438368: 2438368
30 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh38 Chromosome 19, 2438370: 2438370
31 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh37 Chromosome 19, 2438491: 2438491
32 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh38 Chromosome 19, 2438493: 2438493
33 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh38 Chromosome 19, 2438505: 2438505
34 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh37 Chromosome 19, 2438503: 2438503
35 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh38 Chromosome 19, 2432452: 2432452
36 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh37 Chromosome 19, 2432450: 2432450
37 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh38 Chromosome 19, 2433905: 2433905
38 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh37 Chromosome 19, 2433903: 2433903
39 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh38 Chromosome 19, 2433945: 2433945
40 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh37 Chromosome 19, 2433943: 2433943
41 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh38 Chromosome 19, 2434052: 2434052
42 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh37 Chromosome 19, 2434050: 2434050
43 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance GRCh37 Chromosome 19, 2430955: 2430962
44 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance GRCh38 Chromosome 19, 2430957: 2430964
45 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh38 Chromosome 19, 2431811: 2431811
46 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh37 Chromosome 19, 2431809: 2431809
47 LMNB2 NM_032737.3(LMNB2): c.982-4G> A single nucleotide variant Likely benign rs370025312 GRCh38 Chromosome 19, 2434519: 2434519
48 LMNB2 NM_032737.3(LMNB2): c.982-4G> A single nucleotide variant Likely benign rs370025312 GRCh37 Chromosome 19, 2434517: 2434517
49 LMNB2 NM_032737.3(LMNB2): c.1312C> T (p.Arg438Trp) single nucleotide variant Uncertain significance rs780728738 GRCh38 Chromosome 19, 2433996: 2433996
50 LMNB2 NM_032737.3(LMNB2): c.1312C> T (p.Arg438Trp) single nucleotide variant Uncertain significance rs780728738 GRCh37 Chromosome 19, 2433994: 2433994

Expression for Epilepsy, Progressive Myoclonic, 9

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Pathways for Epilepsy, Progressive Myoclonic, 9

GO Terms for Epilepsy, Progressive Myoclonic, 9

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