MCID: MRR011
MIFTS: 42

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 57 75 29 13 6
Congenital Mirror Movements 24 53 25 75 37
Congenital Mirror Movement Disorder 12 24 53 25
Bimanual Synergia 57 53 25 75
Hereditary Congenital Controlateral Synkinesia 12 53 59
Familial Congenital Controlateral Synkinesia 12 53 59
Isolated Congenital Controlateral Synkinesia 12 53 59
Hereditary Congenital Mirror Movements 12 53 59
Familial Congenital Mirror Movements 12 53 59
Isolated Congenital Mirror Movements 12 53 59
Mirror Movements 53 25 40
Mirror Movements 1 and/or Agenesis of the Corpus Callosum 57 75
Bimanual Synkinesis 53 25
Mrmv1 57 75
Cmm 53 25
Mirror Movements, Congenital 57
Mirror Movements, Type 1 40

Characteristics:

Orphanet epidemiological data:

59
familial congenital mirror movements
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
mirror movements 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

24
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: 59  
Rare neurological diseases


External Ids:

OMIM 57 157600
Disease Ontology 12 DOID:0111153
Orphanet 59 ORPHA238722
MedGen 42 C1834870
MeSH 44 D020820
KEGG 37 H01287

Summaries for Mirror Movements 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Mirror Movements 1, also known as congenital mirror movements, is related to melanoma, cutaneous malignant 1 and melanoma, cutaneous malignant 4. 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. The drugs Acetylcholine and Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include cortex, and related phenotypes are bimanual synkinesia and clumsiness

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 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.

Disease Ontology : 12 A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.

Wikipedia : 76 Congenital mirror movement disorder (CMM disorder) is a rare genetic neurological disorder which is... more...

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:

# Related Disease Score Top Affiliating Genes
1 melanoma, cutaneous malignant 1 11.6
2 melanoma, cutaneous malignant 4 10.9
3 corpus callosum, agenesis of 10.9
4 mirror movements 2 10.9
5 melanoma 10.1
6 movement disease 10.0
7 dysplastic nevus syndrome 9.9
8 attention deficit-hyperactivity disorder 9.9
9 colpocephaly 9.9

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:

57
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
Muscle Soft Tissue:
pain or cramping during sustained manual activity


Clinical features from OMIM:

157600

Human phenotypes related to Mirror Movements 1:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bimanual synkinesia 59 32 frequent (33%) Frequent (79-30%) HP:0001335
2 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
3 abnormality of the corticospinal tract 59 32 frequent (33%) Frequent (79-30%) HP:0002492
4 easy fatigability 59 32 frequent (33%) Frequent (79-30%) HP:0003388
5 poor fine motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007010
6 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
7 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
8 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
9 dysgenesis of the hippocampus 59 32 occasional (7.5%) Occasional (29-5%) HP:0025101
10 hypogonadotrophic hypogonadism 59 32 very rare (1%) Very rare (<4-1%) HP:0000044
11 intellectual disability, mild 59 32 very rare (1%) Very rare (<4-1%) HP:0001256
12 fused cervical vertebrae 59 32 very rare (1%) Very rare (<4-1%) HP:0002949
13 cerebral palsy 59 32 very rare (1%) Very rare (<4-1%) HP:0100021
14 abnormality of movement 59 Frequent (79-30%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00303-A 8.62 NTN1 RAD51

Drugs & Therapeutics for Mirror Movements 1

Drugs for Mirror Movements 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 1, Phase 2 51-84-3 187
2 Botulinum Toxins Phase 1, Phase 2
3 Cholinergic Agents Phase 1, Phase 2
4 Neurotransmitter Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stimulation for Perinatal Stroke Optimizing Recovery Trajectories Recruiting NCT03216837 Phase 2, Phase 3
2 Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer's Cramp Completed NCT02015039 Phase 1, Phase 2 BoNT Injections
3 Role of the SMA During Unimanual and Bimanual Movements Preparation: the Mirror Movements Paradigm Completed NCT02073604 Not Applicable
4 Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC " Completed NCT01075061 Not Applicable
5 Upper Extremity Selective Voluntary Motor Control in Children With Unilateral Cerebral Palsy Completed NCT03504787
6 Enhanced Reality for Hemiparetic Arm in the Stroke Patients Not yet recruiting NCT03270852 Not Applicable
7 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 29 DCC

Anatomical Context for Mirror Movements 1

MalaCards organs/tissues related to Mirror Movements 1:

41
Cortex

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
Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. ( 25813273 )
2015
3
Attention Deficit Hyperactivity Disorder in a Patient With Congenital Mirror Movement Disorder and Colpocephaly. ( 26495087 )
2015
4
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
5
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. ( 24808016 )
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
Mutations in DCC cause congenital mirror movements. ( 20431009 )
2010
10
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. ( 19372093 )
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:

75
# 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 34)
# 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.1409G> A (p.Gly470Asp) single nucleotide variant Uncertain significance rs141813053 GRCh38 Chromosome 18, 53157503: 53157503
5 DCC NM_005215.3(DCC): c.2000G> A (p.Arg667His) single nucleotide variant Uncertain significance rs200099519 GRCh37 Chromosome 18, 50832036: 50832036
6 DCC NM_005215.3(DCC): c.2407G> A (p.Gly803Arg) single nucleotide variant Uncertain significance rs797044550 GRCh38 Chromosome 18, 53386090: 53386090
7 DCC NM_005215.3(DCC): c.2871_2875dupAGGGA (p.Pro960Glyfs) duplication Pathogenic rs797044555 GRCh37 Chromosome 18, 50929199: 50929203
8 DCC NM_005215.3(DCC): c.3835_3836delCT (p.Leu1279Profs) deletion Pathogenic rs797044556 GRCh38 Chromosome 18, 53486895: 53486896
9 DCC NM_005215.3(DCC): c.3835_3836delCT (p.Leu1279Profs) deletion Pathogenic rs797044556 GRCh37 Chromosome 18, 51013265: 51013266
10 DCC NM_005215.3(DCC): c.698-?_985+?del (p.Asp233_Leu328del) deletion Pathogenic
11 DCC NM_005215.3(DCC): c.1409G> A (p.Gly470Asp) single nucleotide variant Uncertain significance rs141813053 GRCh37 Chromosome 18, 50683873: 50683873
12 DCC NM_005215.3(DCC): c.2000G> A (p.Arg667His) single nucleotide variant Uncertain significance rs200099519 GRCh38 Chromosome 18, 53305666: 53305666
13 DCC NM_005215.3(DCC): c.2105A> G (p.Asn702Ser) single nucleotide variant Uncertain significance rs35691189 GRCh38 Chromosome 18, 53322098: 53322098
14 DCC NM_005215.3(DCC): c.2105A> G (p.Asn702Ser) single nucleotide variant Uncertain significance rs35691189 GRCh37 Chromosome 18, 50848468: 50848468
15 DCC NM_005215.3(DCC): c.2407G> A (p.Gly803Arg) single nucleotide variant Uncertain significance rs797044550 GRCh37 Chromosome 18, 50912460: 50912460
16 DCC NM_005215.3(DCC): c.2871_2875dupAGGGA (p.Pro960Glyfs) duplication Pathogenic rs797044555 GRCh38 Chromosome 18, 53402829: 53402833
17 DCC NM_005215.3(DCC): c.377C> A (p.Ser126Ter) single nucleotide variant Pathogenic rs797044551 GRCh38 Chromosome 18, 52752339: 52752339
18 DCC NM_005215.3(DCC): c.377C> A (p.Ser126Ter) single nucleotide variant Pathogenic rs797044551 GRCh37 Chromosome 18, 50278709: 50278709
19 DCC NM_005215.3(DCC): c.527A> G (p.Asn176Ser) single nucleotide variant Uncertain significance rs138724679 GRCh38 Chromosome 18, 52906158: 52906158
20 DCC NM_005215.3(DCC): c.527A> G (p.Asn176Ser) single nucleotide variant Uncertain significance rs138724679 GRCh37 Chromosome 18, 50432528: 50432528
21 DCC NM_005215.3(DCC): c.571dupG (p.Val191Glyfs) duplication Pathogenic rs797044552 GRCh38 Chromosome 18, 52906202: 52906202
22 DCC NM_005215.3(DCC): c.571dupG (p.Val191Glyfs) duplication Pathogenic rs797044552 GRCh37 Chromosome 18, 50432572: 50432572
23 DCC NM_005215.3(DCC): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs754914260 GRCh38 Chromosome 18, 52923832: 52923832
24 DCC NM_005215.3(DCC): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs754914260 GRCh37 Chromosome 18, 50450202: 50450202
25 DCC NM_005215.3(DCC): c.1140+1G> A (p.V329GfsTer15) single nucleotide variant Pathogenic rs797044553 GRCh38 Chromosome 18, 53063460: 53063460
26 DCC NM_005215.3(DCC): c.1140+1G> A (p.V329GfsTer15) single nucleotide variant Pathogenic rs797044553 GRCh37 Chromosome 18, 50589830: 50589830
27 DCC NM_005215.3(DCC): c.1336_1337insAGCC (p.Arg446Glnfs) insertion Pathogenic rs797044554 GRCh38 Chromosome 18, 53157430: 53157431
28 DCC NM_005215.3(DCC): c.1336_1337insAGCC (p.Arg446Glnfs) insertion Pathogenic rs797044554 GRCh37 Chromosome 18, 50683800: 50683801
29 DCC NM_005215.3(DCC): c.925delA (p.Thr309Profs) deletion Pathogenic rs1057519053 GRCh38 Chromosome 18, 52925310: 52925310
30 DCC NM_005215.3(DCC): c.925delA (p.Thr309Profs) deletion Pathogenic rs1057519053 GRCh37 Chromosome 18, 50451680: 50451680
31 DCC NM_005215.3(DCC): c.2378T> G (p.Val793Gly) single nucleotide variant Pathogenic rs1057519054 GRCh37 Chromosome 18, 50912431: 50912431
32 DCC NM_005215.3(DCC): c.2378T> G (p.Val793Gly) single nucleotide variant Pathogenic rs1057519054 GRCh38 Chromosome 18, 53386061: 53386061
33 DCC NM_005215.3(DCC): c.2414G> A (p.Gly805Glu) single nucleotide variant Pathogenic rs1057519055 GRCh38 Chromosome 18, 53386097: 53386097
34 DCC NM_005215.3(DCC): c.2414G> A (p.Gly805Glu) single nucleotide variant Pathogenic rs1057519055 GRCh37 Chromosome 18, 50912467: 50912467

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:

37
# 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
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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