MCID: MRR010
MIFTS: 15

Mirror Movements 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Mirror Movements 2

MalaCards integrated aliases for Mirror Movements 2:

Name: Mirror Movements 2 57 75 29 13 6 73
Mrmv2 57 75
Mirror Movements, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
disorder usually remains stable over time
incomplete penetrance (50%)


HPO:

32
mirror movements 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 614508
MedGen 42 C3281089
MeSH 44 D020820
SNOMED-CT via HPO 69 263681008 229247004
UMLS 73 C3281089

Summaries for Mirror Movements 2

OMIM : 57 Mirror movements are involuntary movements of a side of the body that mirror intentional movements on the opposite side. Mild mirror movements are physiologic in young children and gradually disappear within the first decade of life, likely due to maturation of the motor network. Mirror movements that persist beyond age 10 years represent a rare disorder usually showing autosomal dominant inheritance with incomplete penetrance (summary by Depienne et al., 2012). For a discussion of genetic heterogeneity of mirror movements, see MRMV1 (157600). (614508)

MalaCards based summary : Mirror Movements 2, is also known as mrmv2. An important gene associated with Mirror Movements 2 is RAD51 (RAD51 Recombinase). Related phenotype is bimanual synkinesia.

UniProtKB/Swiss-Prot : 75 Mirror movements 2: 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.

Related Diseases for Mirror Movements 2

Diseases in the Mirror Movements 1 family:

Mirror Movements 2 Mirror Movements 3

Symptoms & Phenotypes for Mirror Movements 2

Symptoms via clinical synopsis from OMIM:

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

Neurologic Central Nervous System:
mirror movements, involuntary, usually of the upper limb and hand
difficulties in fine bimanual activities
writing fatigability
abnormal corticospinal tract decussation


Clinical features from OMIM:

614508

Human phenotypes related to Mirror Movements 2:

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

Drugs & Therapeutics for Mirror Movements 2

Search Clinical Trials , NIH Clinical Center for Mirror Movements 2

Genetic Tests for Mirror Movements 2

Genetic tests related to Mirror Movements 2:

# Genetic test Affiliating Genes
1 Mirror Movements 2 29 RAD51

Anatomical Context for Mirror Movements 2

Publications for Mirror Movements 2

Variations for Mirror Movements 2

ClinVar genetic disease variations for Mirror Movements 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD51 NM_002875.4(RAD51): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs199925463 GRCh37 Chromosome 15, 41021818: 41021818
2 RAD51 NM_002875.4(RAD51): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs199925463 GRCh38 Chromosome 15, 40729620: 40729620
3 RAD51 NM_002875.4(RAD51): c.855dupA (p.Pro286Thrfs) duplication Pathogenic rs724159986 GRCh38 Chromosome 15, 40729933: 40729933
4 RAD51 NM_002875.4(RAD51): c.855dupA (p.Pro286Thrfs) duplication Pathogenic rs724159986 GRCh37 Chromosome 15, 41022131: 41022131
5 RAD51 NM_002875.4(RAD51): c.140A> G (p.His47Arg) single nucleotide variant Uncertain significance rs768411477 GRCh38 Chromosome 15, 40701116: 40701116
6 RAD51 NM_002875.4(RAD51): c.140A> G (p.His47Arg) single nucleotide variant Uncertain significance rs768411477 GRCh37 Chromosome 15, 40993314: 40993314
7 RAD51 NM_002875.4(RAD51): c.406A> T (p.Ile136Phe) single nucleotide variant Uncertain significance rs797044557 GRCh38 Chromosome 15, 40709087: 40709087
8 RAD51 NM_002875.4(RAD51): c.406A> T (p.Ile136Phe) single nucleotide variant Uncertain significance rs797044557 GRCh37 Chromosome 15, 41001285: 41001285
9 RAD51 NM_002875.4(RAD51): c.749G> A (p.Arg250Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 41021807: 41021807
10 RAD51 NM_002875.4(RAD51): c.749G> A (p.Arg250Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 40729609: 40729609

Expression for Mirror Movements 2

Search GEO for disease gene expression data for Mirror Movements 2.

Pathways for Mirror Movements 2

GO Terms for Mirror Movements 2

Sources for Mirror Movements 2

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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