MCID: MYC066
MIFTS: 21

Myoclonus, Familial Cortical

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonus, Familial Cortical

MalaCards integrated aliases for Myoclonus, Familial Cortical:

Name: Myoclonus, Familial Cortical 57 75 29 13 6 40 73
Fcm 57 75
Familial Cortical Myoclonus 59

Characteristics:

Orphanet epidemiological data:

59
familial cortical myoclonus
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one canadian mennonite family has been reported (last curated november 2012)
adult onset from second to seventh decade
slowly progressive
myoclonus triggered by action, sudden movements, and inadvertent somatosensory stimuli
symptoms aggravated by fatigue, exertion, sleep deprivation, emotion, hunger
older patients become wheelchair-dependent


HPO:

32
myoclonus, familial cortical:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614937
Orphanet 59 ORPHA319189
ICD10 via Orphanet 34 G25.3
MeSH 44 D009207
UMLS 73 C3539916

Summaries for Myoclonus, Familial Cortical

OMIM : 57 Familial cortical myoclonus is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012). (614937)

MalaCards based summary : Myoclonus, Familial Cortical, also known as fcm, is related to foix chavany marie syndrome and uruguay faciocardiomusculoskeletal syndrome. An important gene associated with Myoclonus, Familial Cortical is NOL3 (Nucleolar Protein 3). Related phenotypes are ataxia and myoclonus

UniProtKB/Swiss-Prot : 75 Myoclonus, familial cortical: An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness.

Related Diseases for Myoclonus, Familial Cortical

Diseases related to Myoclonus, Familial Cortical via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 foix chavany marie syndrome 11.3
2 uruguay faciocardiomusculoskeletal syndrome 11.1
3 dystonia 11, myoclonic 11.0
4 leukemia, chronic lymphocytic 2 9.8
5 leukemia, chronic lymphocytic 9.8
6 basal cell carcinoma 1 9.8
7 myelodysplastic syndrome 9.8
8 leukemia 9.8
9 hemorrhagic fever with renal syndrome 9.8
10 basal cell carcinoma 9.8
11 hemorrhagic fever 9.8
12 leukemia, b-cell, chronic 9.8
13 myoclonus 9.7

Graphical network of the top 20 diseases related to Myoclonus, Familial Cortical:



Diseases related to Myoclonus, Familial Cortical

Symptoms & Phenotypes for Myoclonus, Familial Cortical

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial myoclonus

Neurologic Central Nervous System:
myoclonus, cortical, multifocal
frequent falls with preservation of consciousness
cerebellar ataxia, mild, late-onset


Clinical features from OMIM:

614937

Human phenotypes related to Myoclonus, Familial Cortical:

32
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 myoclonus 32 HP:0001336
3 falls 32 HP:0002527

Drugs & Therapeutics for Myoclonus, Familial Cortical

Search Clinical Trials , NIH Clinical Center for Myoclonus, Familial Cortical

Genetic Tests for Myoclonus, Familial Cortical

Genetic tests related to Myoclonus, Familial Cortical:

# Genetic test Affiliating Genes
1 Myoclonus, Familial Cortical 29 NOL3

Anatomical Context for Myoclonus, Familial Cortical

Publications for Myoclonus, Familial Cortical

Articles related to Myoclonus, Familial Cortical:

# Title Authors Year
1
Familial cortical myoclonus with a mutation in NOL3. ( 22926851 )
2012

Variations for Myoclonus, Familial Cortical

UniProtKB/Swiss-Prot genetic disease variations for Myoclonus, Familial Cortical:

75
# Symbol AA change Variation ID SNP ID
1 NOL3 p.Glu21Gln VAR_069731 rs397514600
2 NOL3 p.Ala80Thr VAR_072644 rs780601409

ClinVar genetic disease variations for Myoclonus, Familial Cortical:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOL3 NM_001276312.1(NOL3): c.61G> C (p.Glu21Gln) single nucleotide variant Pathogenic rs397514600 GRCh37 Chromosome 16, 67208133: 67208133
2 NOL3 NM_001276312.1(NOL3): c.61G> C (p.Glu21Gln) single nucleotide variant Pathogenic rs397514600 GRCh38 Chromosome 16, 67174230: 67174230

Expression for Myoclonus, Familial Cortical

Search GEO for disease gene expression data for Myoclonus, Familial Cortical.

Pathways for Myoclonus, Familial Cortical

GO Terms for Myoclonus, Familial Cortical

Sources for Myoclonus, Familial Cortical

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
Content
Loading form....