MCID: MRR014
MIFTS: 27

Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

MalaCards integrated aliases for Mirror Movements 1 and/or Agenesis of the Corpus Callosum:

Name: Mirror Movements 1 and/or Agenesis of the Corpus Callosum 54
Congenital Mirror Movements 23 50 25 71
Mirror Movements 1 24 71 29 13
Bimanual Synergia 50 24 25 71
Congenital Mirror Movement Disorder 23 50 25
Hereditary Congenital Controlateral Synkinesia 50 56
Familial Congenital Controlateral Synkinesia 50 56
Isolated Congenital Controlateral Synkinesia 50 56
Hereditary Congenital Mirror Movements 50 56
Familial Congenital Mirror Movements 50 56
Isolated Congenital Mirror Movements 50 56
Bimanual Synkinesis 50 25
Mirror Movements 50 25
Cmm 50 25
Mirror Movements, Congenital 24
Mrmv1 71

Characteristics:

Orphanet epidemiological data:

56
familial congenital mirror movements
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
mirror movements 1 and/or agenesis of the corpus callosum:
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: 56  
Rare neurological diseases


External Ids:

OMIM 54 157600
Orphanet 56 ORPHA238722
MedGen 40 C1834870
MeSH 42 D020820
SNOMED-CT via HPO 65 263681008 229247004

Summaries for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

NIH Rare Diseases : 50 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 and/or Agenesis of the Corpus Callosum, also known as congenital mirror movements, is related to mirror movements 2 and mirror movements 3, and has symptoms including bimanual synkinesia An important gene associated with Mirror Movements 1 and/or Agenesis of the Corpus Callosum is DCC (DCC Netrin 1 Receptor), and among its related pathways/superpathways is Pathways in cancer. Related phenotype is Synthetic lethal with MLN4924 (a NAE inhibitor).

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.

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.

OMIM : 54
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)

GeneReviews: NBK279760

Related Diseases for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Diseases related to Mirror Movements 1 and/or Agenesis of the Corpus Callosum via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
id Related Disease Score Top Affiliating Genes
1 mirror movements 2 12.4
2 mirror movements 3 12.3
3 malignant melanoma, somatic 10.8
4 klippel-feil syndrome 10.1
5 kallmann syndrome 10.0
6 melanoma 10.0
7 cervicitis 9.9
8 cerebritis 9.9
9 polymicrogyria 9.9
10 cerebral palsy 9.9
11 dysplastic nevus syndrome 9.8
12 porencephaly 9.8
13 spasticity 9.8
14 meningocele 9.7
15 meningitis 9.7
16 attention deficit-hyperactivity disorder 9.7
17 colpocephaly 9.7
18 neurenteric cyst 9.7
19 seckel syndrome 9.7
20 rabson-mendenhall syndrome 9.5 DCC RAD51

Graphical network of the top 20 diseases related to Mirror Movements 1 and/or Agenesis of the Corpus Callosum:



Diseases related to Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Symptoms & Phenotypes for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Symptoms via clinical synopsis from OMIM:

54

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 and/or Agenesis of the Corpus Callosum:

32
id Description HPO Frequency HPO Source Accession
1 bimanual synkinesia 32 HP:0001335

GenomeRNAi Phenotypes related to Mirror Movements 1 and/or Agenesis of the Corpus Callosum according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 8.8 DCC
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.8 DCC RAD51

Drugs & Therapeutics for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Search Clinical Trials , NIH Clinical Center for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Genetic Tests for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Genetic tests related to Mirror Movements 1 and/or Agenesis of the Corpus Callosum:

id Genetic test Affiliating Genes
1 Mirror Movements 1 29 24 DCC

Anatomical Context for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Publications for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Variations for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

ClinVar genetic disease variations for Mirror Movements 1 and/or Agenesis of the Corpus Callosum:

6 (show all 14)
id 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.2871_2875dupAGGGA (p.Pro960Glyfs) duplication Pathogenic rs797044555 GRCh37 Chromosome 18, 50929199: 50929203
5 DCC NM_005215.3(DCC): c.3835_3836delCT (p.Leu1279Profs) deletion Pathogenic rs797044556 GRCh38 Chromosome 18, 53486895: 53486896
6 DCC NM_005215.3(DCC): c.698-?_985+?del (p.Asp233_Leu328del) deletion Pathogenic
7 DCC NM_005215.3(DCC): c.377C> A (p.Ser126Ter) single nucleotide variant Pathogenic rs797044551 GRCh38 Chromosome 18, 52752339: 52752339
8 DCC NM_005215.3(DCC): c.571dupG (p.Val191Glyfs) duplication Pathogenic rs797044552 GRCh38 Chromosome 18, 52906202: 52906202
9 DCC NM_005215.3(DCC): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs754914260 GRCh38 Chromosome 18, 52923832: 52923832
10 DCC NM_005215.3(DCC): c.1140+1G> A (p.V329GfsTer15) single nucleotide variant Pathogenic rs797044553 GRCh38 Chromosome 18, 53063460: 53063460
11 DCC NM_005215.3(DCC): c.1336_1337insAGCC (p.Arg446Glnfs) insertion Pathogenic rs797044554 GRCh38 Chromosome 18, 53157430: 53157431
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 and/or Agenesis of the Corpus Callosum

Search GEO for disease gene expression data for Mirror Movements 1 and/or Agenesis of the Corpus Callosum.

Pathways for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Pathways related to Mirror Movements 1 and/or Agenesis of the Corpus Callosum according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.22 DCC RAD51

GO Terms for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Sources for Mirror Movements 1 and/or Agenesis of the Corpus Callosum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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