MCID: MRR012
MIFTS: 14

Mirror Movements 3

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Mirror Movements 3

MalaCards integrated aliases for Mirror Movements 3:

Name: Mirror Movements 3 57 75 29 6 73
Mrmv3 57 75
Mirror Movements, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mirror movements 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616059
MeSH 44 D020820
SNOMED-CT via HPO 69 258211005 229247004
UMLS 73 C4015124

Summaries for Mirror Movements 3

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 616059

Related Diseases for Mirror Movements 3

Diseases in the Mirror Movements 1 family:

Mirror Movements 2 Mirror Movements 3

Symptoms & Phenotypes for Mirror Movements 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
difficulties in fine bimanual activities
mirror movements, involuntary, affecting the hand and fingers


Clinical features from OMIM:

616059

Human phenotypes related to Mirror Movements 3:

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

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

Variations for Mirror Movements 3

ClinVar genetic disease variations for Mirror Movements 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAL4 NM_005740.2(DNAL4): c.153+2T> C single nucleotide variant Pathogenic rs606231254 GRCh38 Chromosome 22, 38780924: 38780924
2 DNAL4 NM_005740.2(DNAL4): c.153+2T> C single nucleotide variant Pathogenic rs606231254 GRCh37 Chromosome 22, 39176929: 39176929

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 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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