MRMV3
MCID: MRR012
MIFTS: 15

Mirror Movements 3 (MRMV3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mirror Movements 3

MalaCards integrated aliases for Mirror Movements 3:

Name: Mirror Movements 3 57 72 29 6 70
Mrmv3 57 72
Mirror Movements, Type 3 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy or early childhood
one consanguineous pakistani family has been reported (last curated october 2014)


HPO:

31
mirror movements 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616059
OMIM Phenotypic Series 57 PS157600
MeSH 44 D020820
SNOMED-CT via HPO 68 229247004 258211005
UMLS 70 C4015124

Summaries for Mirror Movements 3

UniProtKB/Swiss-Prot : 72 Mirror movements 3: 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.

MalaCards based summary : Mirror Movements 3, is also known as mrmv3. An important gene associated with Mirror Movements 3 is DNAL4 (Dynein Axonemal Light Chain 4). Related phenotype is bimanual synkinesia.

More information from OMIM: 616059 PS157600

Related Diseases for Mirror Movements 3

Diseases in the Mirror Movements 1 family:

Mirror Movements 2 Mirror Movements 3
Mirror Movements 4

Symptoms & Phenotypes for Mirror Movements 3

Human phenotypes related to Mirror Movements 3:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
difficulties in fine bimanual activities
mirror movements, involuntary, affecting the hand and fingers

Clinical features from OMIM®:

616059 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mirror Movements 3

Search Clinical Trials , NIH Clinical Center for Mirror Movements 3

Genetic Tests for Mirror Movements 3

Genetic tests related to Mirror Movements 3:

# Genetic test Affiliating Genes
1 Mirror Movements 3 29 DNAL4

Anatomical Context for Mirror Movements 3

Publications for Mirror Movements 3

Articles related to Mirror Movements 3:

# Title Authors PMID Year
1
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. 57 6
25098561 2014

Variations for Mirror Movements 3

ClinVar genetic disease variations for Mirror Movements 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAL4 NM_005740.3(DNAL4):c.153+2T>C SNV Pathogenic 157500 rs606231254 GRCh37: 22:39176929-39176929
GRCh38: 22:38780924-38780924

Expression for Mirror Movements 3

Search GEO for disease gene expression data for Mirror Movements 3.

Pathways for Mirror Movements 3

GO Terms for Mirror Movements 3

Sources for Mirror Movements 3

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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