MCID: MRR011
MIFTS: 35

Mirror Movements 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Mirror Movements 1

MalaCards integrated aliases for Mirror Movements 1:

Name: Mirror Movements 1 53 71 28 13
Congenital Mirror Movements 23 49 24 71 36
Bimanual Synergia 53 49 24 71
Congenital Mirror Movement Disorder 23 49 24
Mirror Movements 1 and/or Agenesis of the Corpus Callosum 53 71
Hereditary Congenital Controlateral Synkinesia 49 55
Familial Congenital Controlateral Synkinesia 49 55
Isolated Congenital Controlateral Synkinesia 49 55
Hereditary Congenital Mirror Movements 49 55
Familial Congenital Mirror Movements 49 55
Isolated Congenital Mirror Movements 49 55
Bimanual Synkinesis 49 24
Mirror Movements 49 24
Mrmv1 53 71
Cmm 49 24
Mirror Movements, Congenital 53

Characteristics:

Orphanet epidemiological data:

55
familial congenital mirror movements
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
disorder usually remains stable over time
highly variable phenotype
incomplete penetrance


HPO:

31
mirror movements 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


GeneReviews:

23
Penetrance Penetrance does not appear to be sex-related or age-related, as mirror movements are present from early childhood in all symptomatic individuals...

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 157600
Orphanet 55 ORPHA238722
MedGen 39 C1834870
MeSH 41 D020820
KEGG 36 H01287
SNOMED-CT via HPO 65 263681008 229247004

Summaries for Mirror Movements 1

NIH Rare Diseases : 49 Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. CMM can be caused by changes (mutations) in the DCC or RAD51 genes and inherited in an autosomal dominant manner. In some families, the exact underlying cause of CMM is unknown. Last updated: 5/4/2015

MalaCards based summary : Mirror Movements 1, also known as congenital mirror movements, is related to melanoma, cutaneous malignant 1 and melanoma, cutaneous malignant 4, and has symptoms including bimanual synkinesia An important gene associated with Mirror Movements 1 is DCC (DCC Netrin 1 Receptor), and among its related pathways/superpathways are Axon guidance and Homologous recombination. Related phenotype is Decreased cell number.

Genetics Home Reference : 24 Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.

OMIM : 53 Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017). (157600)

UniProtKB/Swiss-Prot : 71 Mirror movements 1: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum.

GeneReviews: NBK279760

Related Diseases for Mirror Movements 1

Diseases in the Mirror Movements 1 family:

Mirror Movements 2 Mirror Movements 3

Diseases related to Mirror Movements 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 melanoma, cutaneous malignant 1 11.7
2 melanoma, cutaneous malignant 4 11.0
3 corpus callosum, agenesis of 10.9
4 mirror movements 2 10.9
5 melanoma 10.1
6 cervicitis 10.0
7 dysplastic nevus syndrome 10.0
8 attention deficit-hyperactivity disorder 9.8
9 seckel syndrome 9.8
10 meningocele 9.8
11 meningitis 9.8
12 colpocephaly 9.8
13 neurenteric cyst 9.8
14 esophageal cancer 9.5 DCC RAD51

Graphical network of the top 20 diseases related to Mirror Movements 1:



Diseases related to Mirror Movements 1

Symptoms & Phenotypes for Mirror Movements 1

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
pain or cramping during sustained manual activity

Neurologic Central Nervous System:
intellectual disability, mild (in some patients)
mirror movements, involuntary, usually of the upper limb and hand
difficulties in fine bimanual activities
writing fatigability
abnormal corticospinal tract decussation
more

Clinical features from OMIM:

157600

Human phenotypes related to Mirror Movements 1:

31
# Description HPO Frequency HPO Source Accession
1 bimanual synkinesia 31 HP:0001335

GenomeRNAi Phenotypes related to Mirror Movements 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00303-A 8.62 NTN1 RAD51

Drugs & Therapeutics for Mirror Movements 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stimulation for Perinatal Stroke Optimizing Recovery Trajectories Recruiting NCT03216837 Phase 2, Phase 3
2 Role of the SMA During Unimanual and Bimanual Movements Preparation: the Mirror Movements Paradigm Completed NCT02073604 Not Applicable
3 Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC " Completed NCT01075061 Not Applicable
4 Enhanced Reality for Hemiparetic Arm in the Stroke Patients Not yet recruiting NCT03270852 Not Applicable
5 rTMS Posterior Parietal Cortex Modulation and Upper Limb Movement After Stroke Not yet recruiting NCT03323255 Not Applicable

Search NIH Clinical Center for Mirror Movements 1

Genetic Tests for Mirror Movements 1

Genetic tests related to Mirror Movements 1:

# Genetic test Affiliating Genes
1 Mirror Movements 1 28 DCC

Anatomical Context for Mirror Movements 1

Publications for Mirror Movements 1

Articles related to Mirror Movements 1:

(show all 15)
# Title Authors Year
1
Mutations in the netrin-1 gene cause congenital mirror movements. ( 28945198 )
2017
2
Attention Deficit Hyperactivity Disorder in a Patient With Congenital Mirror Movement Disorder and Colpocephaly. ( 26495087 )
2015
3
Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. ( 25813273 )
2015
4
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. ( 24808016 )
2014
5
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. ( 25098561 )
2014
6
Congenital mirror movements: no mutation in DNAL4 in 17 index cases. ( 25236653 )
2014
7
RAD51 haploinsufficiency causes congenital mirror movements in humans. ( 22305526 )
2012
8
A novel DCC mutation and genetic heterogeneity in congenital mirror movements. ( 21242494 )
2011
9
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
2010
10
Mutations in DCC cause congenital mirror movements. ( 20431009 )
2010
11
Familial congenital mirror movements: report of a large 4-generation family. ( 19720981 )
2009
12
Meningocele with cervical dermoid sinus tract presenting with congenital mirror movement and recurrent meningitis. ( 15227751 )
2004
13
[Congenital mirror movements. Three new cases of a rare condition]. ( 10560107 )
1999
14
High cervical split cord malformation and neurenteric cyst associated with congenital mirror movements: case report. ( 8692403 )
1996
15
Congenital Mirror Movements ( 25763452 )
1993

Variations for Mirror Movements 1

UniProtKB/Swiss-Prot genetic disease variations for Mirror Movements 1:

71
# Symbol AA change Variation ID SNP ID
1 DCC p.Val793Gly VAR_079149 rs1057519054Mirror
2 DCC p.Gly805Glu VAR_079150 rs1057519055Mirror

ClinVar genetic disease variations for Mirror Movements 1:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCC DCC, IVS6DS, G-A, +1 single nucleotide variant Pathogenic
2 DCC DCC, 1-BP INS, 571G insertion Pathogenic
3 DCC DCC, 2-BP DEL, 3835CT deletion Pathogenic
4 DCC NM_005215.3(DCC): c.571dupG (p.Val191Glyfs) duplication Pathogenic rs797044552 GRCh38 Chromosome 18, 52906202: 52906202
5 DCC NM_005215.3(DCC): c.377C> A (p.Ser126Ter) single nucleotide variant Pathogenic rs797044551 GRCh38 Chromosome 18, 52752339: 52752339
6 DCC NM_005215.3(DCC): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs754914260 GRCh38 Chromosome 18, 52923832: 52923832
7 DCC NM_005215.3(DCC): c.1140+1G> A (p.V329GfsTer15) single nucleotide variant Pathogenic rs797044553 GRCh38 Chromosome 18, 53063460: 53063460
8 DCC NM_005215.3(DCC): c.1336_1337insAGCC (p.Arg446Glnfs) insertion Pathogenic rs797044554 GRCh38 Chromosome 18, 53157430: 53157431
9 DCC NM_005215.3(DCC): c.2871_2875dupAGGGA (p.Pro960Glyfs) duplication Pathogenic rs797044555 GRCh38 Chromosome 18, 53402829: 53402833
10 DCC NM_005215.3(DCC): c.3835_3836delCT (p.Leu1279Profs) deletion Pathogenic rs797044556 GRCh38 Chromosome 18, 53486895: 53486896
11 DCC NM_005215.3(DCC): c.698-?_985+?del (p.Asp233_Leu328del) deletion Pathogenic
12 DCC NM_005215.3(DCC): c.925delA (p.Thr309Profs) deletion Pathogenic rs1057519053 GRCh38 Chromosome 18, 52925310: 52925310
13 DCC NM_005215.3(DCC): c.2378T> G (p.Val793Gly) single nucleotide variant Pathogenic rs1057519054 GRCh37 Chromosome 18, 50912431: 50912431
14 DCC NM_005215.3(DCC): c.2414G> A (p.Gly805Glu) single nucleotide variant Pathogenic rs1057519055 GRCh38 Chromosome 18, 53386097: 53386097

Expression for Mirror Movements 1

Search GEO for disease gene expression data for Mirror Movements 1.

Pathways for Mirror Movements 1

Pathways related to Mirror Movements 1 according to KEGG:

36
# Name Kegg Source Accession
1 Axon guidance hsa04360
2 Homologous recombination hsa03440

Pathways related to Mirror Movements 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.5 DCC NTN1
2 11.22 DCC NTN1
3
Show member pathways
10.84 DCC NTN1
4 10.31 DCC NTN1

GO Terms for Mirror Movements 1

Biological processes related to Mirror Movements 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.26 DCC NTN1
2 axonogenesis GO:0007409 9.16 DCC NTN1
3 neuron migration GO:0001764 8.96 DCC NTN1
4 anterior/posterior axon guidance GO:0033564 8.62 DCC NTN1

Sources for Mirror Movements 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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