MRMV4
MCID: MRR015
MIFTS: 18

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 57 72 29 6
Mrmv4 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
mirror movements 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618264
OMIM Phenotypic Series 57 PS157600
MeSH 44 D020820
SNOMED-CT via HPO 68 229247004 263681008

Summaries for Mirror Movements 4

OMIM® : 57 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) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Mirror Movements 4:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Mirror Movements 4

Search Clinical Trials , NIH Clinical Center for Mirror Movements 4

Genetic Tests for Mirror Movements 4

Genetic tests related to Mirror Movements 4:

# Genetic test Affiliating Genes
1 Mirror Movements 4 29 NTN1

Anatomical Context for Mirror Movements 4

Publications for Mirror Movements 4

Articles related to Mirror Movements 4:

# Title Authors PMID Year
1
Mutations in the netrin-1 gene cause congenital mirror movements. 57 6
28945198 2017
2
Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. 6
25813273 2015
3
Netrin-1 is required for commissural axon guidance in the developing vertebrate nervous system. 57
8978605 1996

Variations for Mirror Movements 4

ClinVar genetic disease variations for Mirror Movements 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NTN1 NM_004822.3(NTN1):c.1801T>C (p.Cys601Arg) SNV Pathogenic 599324 rs1567750186 GRCh37: 17:9143271-9143271
GRCh38: 17:9239954-9239954
2 NTN1 NM_004822.3(NTN1):c.1549_1551ATC[1] (p.Ile518del) Microsatellite Pathogenic 599325 rs1567749982 GRCh37: 17:9143018-9143020
GRCh38: 17:9239701-9239703
3 NTN1 NM_004822.3(NTN1):c.1802G>C (p.Cys601Ser) SNV Pathogenic 599326 rs1567750187 GRCh37: 17:9143272-9143272
GRCh38: 17:9239955-9239955

UniProtKB/Swiss-Prot genetic disease variations for Mirror Movements 4:

72
# Symbol AA change Variation ID SNP ID
1 NTN1 p.Cys601Arg VAR_082027 rs156775018
2 NTN1 p.Cys601Ser VAR_082028 rs156775018

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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