MRMV2
MCID: MRR010
MIFTS: 20

Mirror Movements 2 (MRMV2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mirror Movements 2

MalaCards integrated aliases for Mirror Movements 2:

Name: Mirror Movements 2 57 72 29 13 6 70
Mrmv2 57 72
Mirror Movements, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
mirror movements 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 614508
OMIM Phenotypic Series 57 PS157600
MeSH 44 D020820
MedGen 41 C3281089
SNOMED-CT via HPO 68 229247004 263681008
UMLS 70 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) (Updated 05-Apr-2021)

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 : 72 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
Mirror Movements 4

Symptoms & Phenotypes for Mirror Movements 2

Human phenotypes related to Mirror Movements 2:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Articles related to Mirror Movements 2:

# Title Authors PMID Year
1
Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature. 57 6
27830107 2016
2
Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. 57 6
25813273 2015
3
RAD51 haploinsufficiency causes congenital mirror movements in humans. 6 57
22305526 2012
4
A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 6 57
21242494 2011
5
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. 57
24808016 2014
6
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. 61
25098561 2014

Variations for Mirror Movements 2

ClinVar genetic disease variations for Mirror Movements 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAD51 NM_002875.5(RAD51):c.855dup (p.Pro286fs) Duplication Pathogenic 29869 rs34091239 GRCh37: 15:41022125-41022126
GRCh38: 15:40729927-40729928
2 RAD51 NM_002875.5(RAD51):c.749G>A (p.Arg250Gln) SNV Pathogenic 471141 rs1555429623 GRCh37: 15:41021807-41021807
GRCh38: 15:40729609-40729609
3 RAD51 NM_002875.5(RAD51):c.760C>T (p.Arg254Ter) SNV Pathogenic 29868 rs199925463 GRCh37: 15:41021818-41021818
GRCh38: 15:40729620-40729620
4 RAD51 NM_002875.5(RAD51):c.140A>G (p.His47Arg) SNV Uncertain significance 187802 rs768411477 GRCh37: 15:40993314-40993314
GRCh38: 15:40701116-40701116
5 RAD51 NM_002875.5(RAD51):c.406A>T (p.Ile136Phe) SNV Uncertain significance 187803 rs797044557 GRCh37: 15:41001285-41001285
GRCh38: 15:40709087-40709087
6 RAD51 NM_002875.5(RAD51):c.1dup (p.Met1fs) Duplication Uncertain significance 803070 rs55714242 GRCh37: 15:40990955-40990956
GRCh38: 15:40698757-40698758
7 RAD51 NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) SNV Uncertain significance 13127 rs121917739 GRCh37: 15:41011016-41011016
GRCh38: 15:40718818-40718818

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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