MRMV4
MCID: MRR015
MIFTS: 14

Mirror Movements 4 (MRMV4)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mirror Movements 4

MalaCards integrated aliases for Mirror Movements 4:

Name: Mirror Movements 4 58 76 6
Mrmv4 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
three unrelated families have been reported (last curated december 2018)


Classifications:



External Ids:

OMIM 58 618264
MeSH 45 D020820
MedGen 43 CN258051

Summaries for Mirror Movements 4

OMIM : 58 Congenital mirror movements-4 is an autosomal dominant condition characterized by involuntary movements on either side of the body that accompany and mirror intentional movements on the opposite side. Mirror movements usually involve the upper limb and hands, resulting in difficulty performing pure unimanual movements. The pathophysiology is probably related to developmental abnormalities of fiber decussation in the corticospinal tract (summary by Meneret et al., 2017). For a discussion of genetic heterogeneity of mirror movements, see MRMV1 (157600). (618264)

MalaCards based summary : Mirror Movements 4, is also known as mrmv4. An important gene associated with Mirror Movements 4 is NTN1 (Netrin 1).

UniProtKB/Swiss-Prot : 76 Mirror movements 4: 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. MRMV4 inheritance is autosomal dominant.

Related Diseases for Mirror Movements 4

Diseases in the Mirror Movements 1 family:

Mirror Movements 2 Mirror Movements 3
Mirror Movements 4

Symptoms & Phenotypes for Mirror Movements 4

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
mirror movements, involuntary, usually of the upper limb and hand
difficulties in fine bimanual activities
abnormal corticospinal tract decussation

Abdomen Gastrointestinal:
irritable bowel syndrome, constipation-dominant (in some patients)

Clinical features from OMIM:

618264

Drugs & Therapeutics for Mirror Movements 4

Search Clinical Trials , NIH Clinical Center for Mirror Movements 4

Genetic Tests for Mirror Movements 4

Anatomical Context for Mirror Movements 4

Publications for Mirror Movements 4

Articles related to Mirror Movements 4:

# 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

Variations for Mirror Movements 4

ClinVar genetic disease variations for Mirror Movements 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NTN1 NM_004822.3(NTN1): c.1801T> C (p.Cys601Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 9143271: 9143271
2 NTN1 NM_004822.3(NTN1): c.1801T> C (p.Cys601Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 9239954: 9239954
3 NTN1 NM_004822.3(NTN1): c.1552_1554del (p.Ile518del) deletion Pathogenic GRCh38 Chromosome 17, 9239705: 9239707
4 NTN1 NM_004822.3(NTN1): c.1552_1554del (p.Ile518del) deletion Pathogenic GRCh37 Chromosome 17, 9143022: 9143024
5 NTN1 NM_004822.3(NTN1): c.1802G> C (p.Cys601Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 9239955: 9239955
6 NTN1 NM_004822.3(NTN1): c.1802G> C (p.Cys601Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 9143272: 9143272

Expression for Mirror Movements 4

Search GEO for disease gene expression data for Mirror Movements 4.

Pathways for Mirror Movements 4

GO Terms for Mirror Movements 4

Sources for Mirror Movements 4

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