FCM
MCID: MYC066
MIFTS: 30

Myoclonus, Familial Cortical (FCM)

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:
slowly progressive
one canadian mennonite family has been reported (last curated november 2012)
adult onset from second to seventh decade
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:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


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 uruguay faciocardiomusculoskeletal syndrome and dystonia 11, myoclonic. An important gene associated with Myoclonus, Familial Cortical is NOL3 (Nucleolar Protein 3). Affiliated tissues include brain, kidney and b cells, and 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

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
4 frequent falls 32 HP:0002359

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

MalaCards organs/tissues related to Myoclonus, Familial Cortical:

41
Brain, Kidney, B Cells, Lymph Node, Testes, Skin, Breast

Publications for Myoclonus, Familial Cortical

Articles related to Myoclonus, Familial Cortical:

(show top 50) (show all 73)
# Title Authors Year
1
Alzheimer disease detection from structural MR images using FCM based weighted probabilistic neural network. ( 29460167 )
2018
2
Fully automated tissue segmentation of the prescription isodose region delineated through the Gamma knife plan for cerebral arteriovenous malformation (AVM) using fuzzy C-means (FCM) clustering. ( 30497981 )
2018
3
Efficacy of ferric carboxymaltose (FCM) 500 mg dose for the treatment of Restless Legs Syndrome. ( 29458749 )
2018
4
Flow Cytometry (FCM) Analysis and Fluorescence-Activated Cell Sorting (FACS) of Erythroid Cells. ( 29076089 )
2018
5
Coastline Detection with Gaofen-3 SAR Images Using an Improved FCM Method. ( 29891809 )
2018
6
Cell Segmentation Based on FOPSO Combined with Shape Information Improved Intuitionistic FCM. ( 29994517 )
2018
7
Similarity Measure-Based Possibilistic FCM With Label Information for Brain MRI Segmentation. ( 29994555 )
2018
8
Intuitionistic Center-Free FCM Clustering for MR Brain Image Segmentation. ( 30507540 )
2018
9
Long-term safety and outcome of fludarabine, cyclophosphamide and mitoxantrone (FCM) regimen in previously untreated patients with advanced follicular lymphoma: 12 years follow-up of a phase 2 trial. ( 28101592 )
2017
10
Comparison of BALB/c and CBA/J mice for the local lymph node assay using bromodeoxyuridine with flow cytometry (LLNA: BrdU-FCM). ( 27816673 )
2017
11
A novel model-based on FCM-LM algorithm for prediction of protein folding rate. ( 28513252 )
2017
12
Predictive capacity of a non-radioisotopic local lymph node assay using flow cytometry, LLNA:BrdU-FCM: Comparison of a cutoff approach and inferential statistics. ( 26654807 )
2016
13
Infrared Ship Target Segmentation Based on Spatial Information Improved FCM. ( 26672055 )
2016
14
Online Fault Diagnosis for Biochemical Process Based on FCM and SVM. ( 27129944 )
2016
15
Classification of Horse Gaits Using FCM-Based Neuro-Fuzzy Classifier from the Transformed Data Information of Inertial Sensor. ( 27171098 )
2016
16
Appraisal of within- and between-laboratory reproducibility of non-radioisotopic local lymph node assay using flow cytometry, LLNA:BrdU-FCM: comparison of OECD TG429 performance standard and statistical evaluation. ( 25732604 )
2015
17
Generation of a Four-Class Attenuation Map for MRI-Based Attenuation Correction of PET Data in the Head Area Using a Novel Combination of STE/Dixon-MRI and FCM Clustering. ( 25917750 )
2015
18
Research on a pulmonary nodule segmentation method combining fast self-adaptive FCM and classification. ( 25945120 )
2015
19
A Spacecraft Electrical Characteristics Multi-Label Classification Method Based on Off-Line FCM Clustering and On-Line WPSVM. ( 26544549 )
2015
20
Establishment and validation of an updated diagnostic FCM scoring system based on pooled immunophenotyping in CD34+ blasts and its clinical significance for myelodysplastic syndromes. ( 24558415 )
2014
21
A simple FCM method to avoid misinterpretation in Saccharomyces cerevisiae cell cycle assessment between G0 and sub-G1. ( 24392149 )
2014
22
An automatic image inpainting algorithm based on FCM. ( 24516358 )
2014
23
Pairwise FCM based feature weighting for improved classification of vertebral column disorders. ( 24529206 )
2014
24
Signalling protein complexes isolated from primary human skin-resident T cells can be analysed by Multiplex IP-FCM. ( 24588717 )
2014
25
An improved FCM medical image segmentation algorithm based on MMTD. ( 24648852 )
2014
26
Design of hybrid radial basis function neural networks (HRBFNNs) realized with the aid of hybridization of fuzzy clustering method (FCM) and polynomial neural networks (PNNs). ( 25233483 )
2014
27
Assessment of feto-maternal hemorrhage among rhesus D negative pregnant mothers using the kleihauer-betke test (KBT) and flow cytometry (FCM) in Addis Ababa, Ethiopia. ( 25381160 )
2014
28
Effective FCM noise clustering algorithms in medical images. ( 23219569 )
2013
29
Segmentation of brain MRI using SOM-FCM-based method and 3D statistical descriptors. ( 23762192 )
2013
30
Familial cortical myoclonus with a mutation in NOL3. ( 22926851 )
2012
31
Improvement of FISH-FCM enumeration performance in filamentous yeast species in activated sludge by snailase partial digestion. ( 22447540 )
2012
32
IP-FCM measures physiologic protein-protein interactions modulated by signal transduction and small-molecule drug inhibition. ( 23029201 )
2012
33
The old Schilling test as a necessary criterion at present for the diagnosis of food-cobalmin malabsorption (FCM) syndrome. ( 23293799 )
2012
34
A randomized phase II trial of fludarabine, cyclophosphamide and mitoxantrone (FCM) with or without rituximab in previously treated chronic lymphocytic leukaemia. ( 21231927 )
2011
35
A new bias field correction method combining N3 and FCM for improved segmentation of breast density on MRI. ( 21361169 )
2011
36
Quantitative analysis of protein phosphorylations and interactions by multi-colour IP-FCM as an input for kinetic modelling of signalling networks. ( 21829558 )
2011
37
Clinical efficacy and safety of IV ferric carboxymaltose (FCM) treatment of RLS: a multi-centred, placebo-controlled preliminary clinical trial. ( 21978726 )
2011
38
Novel single-platform multiparameter FCM analysis of apoptosis: Significant differences between wash and no-wash procedure. ( 20872888 )
2010
39
IP-FCM: immunoprecipitation detected by flow cytometry. ( 21178959 )
2010
40
Safety and tolerability of ferric carboxymaltose (FCM) for treatment of iron deficiency in patients with chronic kidney disease and in kidney transplant recipients. ( 19203504 )
2009
41
Using conditional FCM to mine event-related brain dynamics. ( 19261268 )
2009
42
A routinely applicable way for using FCM in cell enumeration with CFSE-labeled CellBeads as internal standard. ( 19821513 )
2009
43
Volume and shape in feature space on adaptive FCM in MRI segmentation. ( 18574693 )
2008
44
A modified FCM algorithm for MRI brain image segmentation using both local and non-local spatial constraints. ( 18818051 )
2008
45
Inhomogeneity compensation for MR brain image segmentation using a multi-stage FCM-based approach. ( 19163564 )
2008
46
Maintenance therapy with rituximab leads to a significant prolongation of response duration after salvage therapy with a combination of rituximab, fludarabine, cyclophosphamide, and mitoxantrone (R-FCM) in patients with recurring and refractory follicular and mantle cell lymphomas: Results of a prospective randomized study of the German Low Grade Lymphoma Study Group (GLSG). ( 16946304 )
2006
47
The addition of rituximab to a combination of fludarabine, cyclophosphamide, mitoxantrone (FCM) significantly increases the response rate and prolongs survival as compared with FCM alone in patients with relapsed and refractory follicular and mantle cell lymphomas: results of a prospective randomized study of the German Low-Grade Lymphoma Study Group. ( 15284112 )
2004
48
Analysis of the weighting exponent in the FCM. ( 15369100 )
2004
49
Robust image segmentation using FCM with spatial constraints based on new kernel-induced distance measure. ( 15462455 )
2004
50
Adaptive FCM with contextual constrains for segmentation of multi-spectral MRI. ( 17272021 )
2004

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
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