MRMV1
MCID: MRR011
MIFTS: 51

Mirror Movements 1 (MRMV1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mirror Movements 1

MalaCards integrated aliases for Mirror Movements 1:

Name: Mirror Movements 1 57 72 29 13 6
Congenital Mirror Movement Disorder 12 25 20 43 15
Congenital Mirror Movements 25 20 43 72 36
Bimanual Synergia 57 20 43 72
Mirror Movements 20 43 29 39
Hereditary Congenital Controlateral Synkinesia 12 20 58
Familial Congenital Controlateral Synkinesia 12 20 58
Isolated Congenital Controlateral Synkinesia 12 20 58
Hereditary Congenital Mirror Movements 12 20 58
Familial Congenital Mirror Movements 12 20 58
Isolated Congenital Mirror Movements 12 20 58
Mirror Movements 1 and/or Agenesis of the Corpus Callosum 57 72
Bimanual Synkinesis 20 43
Mrmv1 57 72
Cmm 20 43
Mirror Movements, Congenital 57
Mirror Movements, Type 1 39

Characteristics:

Orphanet epidemiological data:

58
familial congenital mirror movements
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype
onset in infancy or early childhood
disorder usually remains stable over time

Inheritance:
autosomal dominant


HPO:

31
mirror movements 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


GeneReviews:

25
Penetrance Penetrance is incomplete regardless of whether the causative pathogenic variant is in dcc, ntn1, or rad51. penetrance for the cmm phenotype was estimated to be 42% in those with a heterozygous pathogenic dcc variant – the most frequent cause of cmm [marsh et al 2017].

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111153
OMIM® 57 157600
OMIM Phenotypic Series 57 PS157600
KEGG 36 H01287
MeSH 44 D020820
Orphanet 58 ORPHA238722
MedGen 41 C1834870

Summaries for Mirror Movements 1

GARD : 20 Congenital mirror movement disorder (CMM) is a rare disorder characterized by persistent, involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body. Mirroring movements are common in early stages of life during development, but they typically disappear during childhood when neurologic development of motor pathways is complete. Mirror movements that do not disappear and persist into adulthood are considered abnormal. In people with CMM, no other neurologic abnormalities are present, distinguishing CMM from other neurologic disorders that cause abnormal mirror movements. CMM can be caused by mutations in the RAD51 or DCC genes. In some cases, the cause is unknown, but it is likely that mutations in other, unidentified genes are also responsible for CMM. The mutations that cause CMM may be inherited from a parent ( familial CMM) or may occur for the first time in a person with no family history of CMM (sporadic CMM). Inheritance of familial CMM usually is autosomal dominant but may be autosomal recessive in rare cases. Not all people who inherit mutations that cause CMM will have the disorder (a phenomenon known as reduced penetrance ). The diagnosis can be made based on the symptoms (a clinical diagnosis) which may be confirmed with genetic testing if a responsible mutation is found. Management of CMM in childhood may include special accommodations in school (such as allowing extra time to complete work and limiting the amount of handwriting), but it should be made clear to teachers that intellectual disability is not associated with CMM. To reduce the risk of pain or discomfort in the hands and arms, people with CMM may benefit from limiting complex movements involving both hands and sustained or repetitive hand activity.

MalaCards based summary : Mirror Movements 1, also known as congenital mirror movement disorder, is related to kallmann syndrome and seckel syndrome. An important gene associated with Mirror Movements 1 is DCC (DCC Netrin 1 Receptor), and among its related pathways/superpathways are Axon guidance and Homologous recombination. The drugs Aluminum hydroxide, magnesium hydroxide, simethicone drug combination and TEMPO have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and spinal cord, and related phenotypes are easy fatigability and clumsiness

Disease Ontology : 12 A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.

MedlinePlus Genetics : 43 Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.People with congenital mirror movement disorder can have some difficulty with certain activities of daily living, particularly with those requiring different movements in each hand, such as typing on a keyboard. They may experience discomfort or pain in the upper limbs during prolonged use of the hands.The extent of the mirror movements in this disorder can vary, even within the same family. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements. The extent of the movements typically stay the same throughout the lifetime of an affected individual.Mirror movements can also occur in people who do not have congenital mirror movement disorder. Mild mirror movements are common during the normal development of young children and typically disappear before age 7. They can also develop later in life in people with neurodegenerative disorders such as Parkinson disease. Mirror movements may also be present in certain other conditions with a wider range of signs and symptoms (syndromes).

OMIM® : 57 Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017). (157600) (Updated 05-Apr-2021)

KEGG : 36 Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV.

UniProtKB/Swiss-Prot : 72 Mirror movements 1: 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. Some MRMV1 patients have agenesis of the corpus callosum.

GeneReviews: NBK279760

Related Diseases for Mirror Movements 1

Diseases in the Mirror Movements 1 family:

Mirror Movements 2 Mirror Movements 3
Mirror Movements 4

Diseases related to Mirror Movements 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 kallmann syndrome 29.8 ROBO3 NTN1 DCC
2 seckel syndrome 29.3 RAD51 KNL1 CENPJ
3 melanoma 11.2
4 melanoma, cutaneous malignant 1 11.2
5 corpus callosum, agenesis of 11.1
6 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 11.1
7 dysplastic nevus syndrome 11.0
8 melanoma, cutaneous malignant 4 10.9
9 hereditary melanoma 10.9
10 mirror movements 2 10.9
11 mirror movements 4 10.9
12 cerebral palsy 10.5
13 spastic cerebral palsy 10.3
14 horizontal gaze palsy with progressive scoliosis 10.2 ROBO3 DCC
15 amyotrophic lateral sclerosis 1 10.2
16 parkinsonism 10.2
17 lateral sclerosis 10.2
18 klippel-feil syndrome 10.1
19 hemiplegia 10.1
20 hand skill, relative 10.1
21 neural tube defects 10.1
22 porencephaly 10.1
23 essential tremor 10.1
24 dystonia 10.1
25 hypogonadotropic hypogonadism 10.1
26 hypogonadism 10.1
27 attention deficit-hyperactivity disorder 10.0
28 mirror movements 3 10.0
29 situs inversus 10.0
30 colpocephaly 10.0
31 47,xyy 10.0
32 fanconi anemia, complementation group r 10.0 RAD51C RAD51
33 williams-beuren syndrome 10.0
34 diastematomyelia 10.0
35 focal dystonia 10.0
36 focal hand dystonia 10.0
37 apraxia 10.0
38 movement disease 10.0
39 spasticity 10.0
40 basal cell nevus syndrome 10.0
41 colorectal cancer 10.0
42 moebius syndrome 10.0
43 strabismus 10.0
44 schizencephaly 10.0
45 myelodysplastic syndrome 10.0
46 chorea, childhood-onset, with psychomotor retardation 10.0
47 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
48 ptosis 10.0
49 meningocele 10.0
50 hydrocephalus 10.0

Graphical network of the top 20 diseases related to Mirror Movements 1:



Diseases related to Mirror Movements 1

Symptoms & Phenotypes for Mirror Movements 1

Human phenotypes related to Mirror Movements 1:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
2 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
3 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
4 bimanual synkinesia 58 31 frequent (33%) Frequent (79-30%) HP:0001335
5 morphological abnormality of the corticospinal tract 31 frequent (33%) HP:0002492
6 agenesis of corpus callosum 58 31 very rare (1%) Occasional (29-5%) HP:0001274
7 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
8 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
9 dysgenesis of the hippocampus 58 31 occasional (7.5%) Occasional (29-5%) HP:0025101
10 intellectual disability, mild 58 31 very rare (1%) Very rare (<4-1%) HP:0001256
11 cerebral palsy 58 31 very rare (1%) Very rare (<4-1%) HP:0100021
12 fused cervical vertebrae 58 31 very rare (1%) Very rare (<4-1%) HP:0002949
13 hypogonadotropic hypogonadism 31 very rare (1%) HP:0000044
14 abnormality of movement 58 Frequent (79-30%)
15 hypogonadotrophic hypogonadism 58 Very rare (<4-1%)
16 abnormality of the corticospinal tract 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability, mild (in some patients)
mirror movements, involuntary, usually of the upper limb and hand
difficulties in fine bimanual activities
writing fatigability
abnormal corticospinal tract decussation
more
Muscle Soft Tissue:
pain or cramping during sustained manual activity

Clinical features from OMIM®:

157600 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Mirror Movements 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 CENPJ DCC DNAJC17 DNAL4 KNL1 NTN1

Drugs & Therapeutics for Mirror Movements 1

Drugs for Mirror Movements 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination
2 TEMPO

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rôle de la SMA Dans la préparation Des Mouvements Uni et Bi-manuels: le Paradigme Des Mouvements en Miroir Completed NCT02073604
2 Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification : MOMIC Completed NCT01075061
3 Investigating the Neurobiologic Basis for Loss of Cortical Laterality in Chronic Stroke Patients Completed NCT03584425 Early Phase 1
4 A Pilot Randomized Controlled Trial (RCT) of Mirror Box Therapy in Upper Limb Rehabilitation With Sub-acute Stroke Patients Completed NCT02276729
5 Mirrored Movement Compared to Cross-education for Recovery After Hand or Wrist Injury: a Pilot Study. Not yet recruiting NCT03937232
6 Effect of Rhythm-based Multitask Training on Fall Rate in Community-dwelling Older Adults: An Assessor-blinded, Randomized, Controlled Trial Suspended NCT04620421

Search NIH Clinical Center for Mirror Movements 1

Genetic Tests for Mirror Movements 1

Genetic tests related to Mirror Movements 1:

# Genetic test Affiliating Genes
1 Mirror Movements 1 29 DCC
2 Mirror Movements 29

Anatomical Context for Mirror Movements 1

MalaCards organs/tissues related to Mirror Movements 1:

40
Cortex, Brain, Spinal Cord, Breast, Prostate

Publications for Mirror Movements 1

Articles related to Mirror Movements 1:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Mutations in DCC cause congenital mirror movements. 20 25 6 61 57
20431009 2010
2
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. 61 25 57 6
24808016 2014
3
RAD51 haploinsufficiency causes congenital mirror movements in humans. 6 57 25 61
22305526 2012
4
A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 25 6 61 57
21242494 2011
5
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. 6 25 57
28250454 2017
6
Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature. 25 61 6
27830107 2016
7
Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. 25 6 61
25813273 2015
8
Familial mirror movements over five generations. 57 6
19127048 2008
9
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. 25 6
25098561 2014
10
Familial congenital mirror movements: report of a large 4-generation family. 61 57
19720981 2009
11
Separate ipsilateral and contralateral corticospinal projections in congenital mirror movements: Neurophysiological evidence and significance for motor rehabilitation. 61 57
14639670 2003
12
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations. 61 25
32060908 2020
13
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants. 61 25
29366874 2018
14
Treating Congenital Mirror Movements with Botulinum Toxin. 25 61
30713984 2017
15
Mutations in the netrin-1 gene cause congenital mirror movements. 61 25
28945198 2017
16
Biallelic mutations in human DCC cause developmental split-brain syndrome. 25 61
28250456 2017
17
A novel role for the DNA repair gene Rad51 in Netrin-1 signalling. 25 61
28057929 2017
18
Congenital Mirror Movements in Gorlin Syndrome: A Case Report With DTI and Functional MRI Features. 61 25
26917672 2016
19
Congenital mirror movements: from piano player to opera singer. 61 25
25713113 2015
20
Congenital mirror movements: no mutation in DNAL4 in 17 index cases. 25 61
25236653 2014
21
Reply: Congenital mirror movements: lack of decussation of pyramids Mirror movement: from physiopathology to treatment perspectives. 61 25
24727566 2014
22
RAD51 deficiency disrupts the corticospinal lateralization of motor control. 25 61
24056534 2013
23
Congenital mirror movements: a clue to understanding bimanual motor control. 61 25
21633904 2011
24
A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 25 61
22006891 2011
25
Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. 25 61
19372093 2010
26
The netrin 1 receptors Unc5h3 and Dcc are necessary at multiple choice points for the guidance of corticospinal tract axons. 57
12451134 2002
27
Hereditary mirror movements. 57
6026070 1967
28
The pan-cancer landscape of netrin family reveals potential oncogenic biomarkers. 25
32251318 2020
29
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature. 25
31697046 2020
30
Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage. 25
30171229 2019
31
The Neuropsychological Syndrome of Agenesis of the Corpus Callosum. 25
30691545 2019
32
Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation. 25
30406765 2018
33
Timing, rates and spectra of human germline mutation. 25
26656846 2016
34
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
35
Brain anatomical substrates of mirror movements in Kallmann syndrome. 25
25300200 2015
36
Genetic unraveling of colorectal cancer. 25
24573608 2014
37
Mirror movements identified in patients with moebius syndrome. 25
25120946 2014
38
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. 25
23290072 2013
39
Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? 25
21947222 2012
40
Mirror movements in movement disorders: a review. 25
23440079 2012
41
Mirror movements in healthy humans across the lifespan: effects of development and ageing. 25
21039436 2010
42
Developmental and benign movement disorders in childhood. 25
20564735 2010
43
Transmembrane receptor DCC associates with protein synthesis machinery and regulates translation. 25
20434207 2010
44
Clinical genetics of Kallmann syndrome. 25
20362962 2010
45
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 25
18425797 2008
46
Identification of a novel human Rad51 variant that promotes DNA strand exchange. 25
18417535 2008
47
The consequences of Rad51 overexpression for normal and tumor cells. 25
18243065 2008
48
Persistent mirror movements for over sixty years: the underlying mechanisms in a cerebral palsy patient. 25
18042427 2008
49
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 25
15322546 2004
50
Identification of Rad51 alteration in patients with bilateral breast cancer. 25
10807537 2000

Variations for Mirror Movements 1

ClinVar genetic disease variations for Mirror Movements 1:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCC DCC, IVS6DS, G-A, +1 SNV Pathogenic 17076 GRCh37:
GRCh38:
2 DCC DCC, 1-BP INS, 571G Insertion Pathogenic 17077 GRCh37:
GRCh38:
3 RAD51 NM_002875.5(RAD51):c.855dup (p.Pro286fs) Duplication Pathogenic 29869 rs34091239 GRCh37: 15:41022125-41022126
GRCh38: 15:40729927-40729928
4 DNAL4 NM_005740.3(DNAL4):c.153+2T>C SNV Pathogenic 157500 rs606231254 GRCh37: 22:39176929-39176929
GRCh38: 22:38780924-38780924
5 DCC NM_005215.4(DCC):c.571dup (p.Val191fs) Duplication Pathogenic 187795 rs797044552 GRCh37: 18:50432570-50432571
GRCh38: 18:52906200-52906201
6 DCC NM_005215.4(DCC):c.1140+1G>A SNV Pathogenic 187797 rs797044553 GRCh37: 18:50589830-50589830
GRCh38: 18:53063460-53063460
7 DCC NM_005215.4(DCC):c.1336_1337insAGCC (p.Arg446fs) Insertion Pathogenic 187798 rs797044554 GRCh37: 18:50683798-50683799
GRCh38: 18:53157428-53157429
8 DCC NM_005215.4(DCC):c.2868_2872GGAAG[3] (p.Pro960fs) Microsatellite Pathogenic 187799 rs797044555 GRCh37: 18:50929193-50929194
GRCh38: 18:53402823-53402824
9 DCC NM_005215.4(DCC):c.3834_3835TC[1] (p.Leu1279fs) Microsatellite Pathogenic 187800 rs797044556 GRCh37: 18:51013263-51013264
GRCh38: 18:53486893-53486894
10 DCC NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del) Deletion Pathogenic 187801 GRCh37:
GRCh38:
11 DCC NM_005215.4(DCC):c.925del (p.Thr309fs) Deletion Pathogenic 375281 rs1057519053 GRCh37: 18:50451680-50451680
GRCh38: 18:52925310-52925310
12 DCC NM_005215.4(DCC):c.2378T>G (p.Val793Gly) SNV Pathogenic 375282 rs1057519054 GRCh37: 18:50912431-50912431
GRCh38: 18:53386061-53386061
13 DCC NM_005215.4(DCC):c.2414G>A (p.Gly805Glu) SNV Pathogenic 375283 rs1057519055 GRCh37: 18:50912467-50912467
GRCh38: 18:53386097-53386097
14 RAD51 NM_002875.5(RAD51):c.749G>A (p.Arg250Gln) SNV Pathogenic 471141 rs1555429623 GRCh37: 15:41021807-41021807
GRCh38: 15:40729609-40729609
15 RAD51 NM_002875.5(RAD51):c.760C>T (p.Arg254Ter) SNV Pathogenic 29868 rs199925463 GRCh37: 15:41021818-41021818
GRCh38: 15:40729620-40729620
16 DCC NM_005215.4(DCC):c.377C>A (p.Ser126Ter) SNV Pathogenic 187794 rs797044551 GRCh37: 18:50278709-50278709
GRCh38: 18:52752339-52752339
17 DCC NM_005215.4(DCC):c.823C>T (p.Arg275Ter) SNV Pathogenic 187796 rs754914260 GRCh37: 18:50450202-50450202
GRCh38: 18:52923832-52923832
18 RAD51 NM_002875.5(RAD51):c.140A>G (p.His47Arg) SNV Uncertain significance 187802 rs768411477 GRCh37: 15:40993314-40993314
GRCh38: 15:40701116-40701116
19 RAD51 NM_002875.5(RAD51):c.406A>T (p.Ile136Phe) SNV Uncertain significance 187803 rs797044557 GRCh37: 15:41001285-41001285
GRCh38: 15:40709087-40709087
20 DCC NM_005215.4(DCC):c.2316_2317delinsAA (p.Arg773Ser) Indel Uncertain significance 1029949 GRCh37: 18:50866234-50866235
GRCh38: 18:53339864-53339865
21 DCC NM_005215.4(DCC):c.2624C>T (p.Thr875Met) SNV Uncertain significance 1031521 GRCh37: 18:50918193-50918193
GRCh38: 18:53391823-53391823
22 DCC NM_005215.4(DCC):c.527A>G (p.Asn176Ser) SNV Uncertain significance 187789 rs138724679 GRCh37: 18:50432528-50432528
GRCh38: 18:52906158-52906158
23 DCC NM_005215.4(DCC):c.1409G>A (p.Gly470Asp) SNV Uncertain significance 187790 rs141813053 GRCh37: 18:50683873-50683873
GRCh38: 18:53157503-53157503
24 DCC NM_005215.4(DCC):c.2000G>A (p.Arg667His) SNV Uncertain significance 187791 rs200099519 GRCh37: 18:50832036-50832036
GRCh38: 18:53305666-53305666
25 DCC NM_005215.4(DCC):c.2105A>G (p.Asn702Ser) SNV Uncertain significance 187792 rs35691189 GRCh37: 18:50848468-50848468
GRCh38: 18:53322098-53322098
26 DCC NM_005215.4(DCC):c.2407G>A (p.Gly803Arg) SNV Uncertain significance 187793 rs797044550 GRCh37: 18:50912460-50912460
GRCh38: 18:53386090-53386090
27 DCC Duplication Uncertain significance 560075 GRCh37: 18:50907873-51052388
GRCh38:
28 RAD51 NM_002875.5(RAD51):c.1dup (p.Met1fs) Duplication Uncertain significance 803070 rs55714242 GRCh37: 15:40990955-40990956
GRCh38: 15:40698757-40698758
29 RAD51 NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) SNV Uncertain significance 13127 rs121917739 GRCh37: 15:41011016-41011016
GRCh38: 15:40718818-40718818
30 DCC NM_005215.4(DCC):c.601C>G (p.Arg201Gly) SNV Benign 803493 rs2229080 GRCh37: 18:50432602-50432602
GRCh38: 18:52906232-52906232

UniProtKB/Swiss-Prot genetic disease variations for Mirror Movements 1:

72
# Symbol AA change Variation ID SNP ID
1 DCC p.Val793Gly VAR_079149 rs105751905
2 DCC p.Gly805Glu VAR_079150 rs105751905

Expression for Mirror Movements 1

Search GEO for disease gene expression data for Mirror Movements 1.

Pathways for Mirror Movements 1

Pathways related to Mirror Movements 1 according to KEGG:

36
# Name Kegg Source Accession
1 Axon guidance hsa04360
2 Homologous recombination hsa03440

GO Terms for Mirror Movements 1

Cellular components related to Mirror Movements 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 replication fork GO:0005657 8.96 RAD51C RAD51B
2 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 8.62 RAD51C RAD51B

Biological processes related to Mirror Movements 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.61 ROBO3 NTN1 DCC
2 DNA recombination GO:0006310 9.54 RAD51C RAD51B RAD51
3 double-strand break repair via homologous recombination GO:0000724 9.43 RAD51C RAD51B RAD51
4 positive regulation of G2/M transition of mitotic cell cycle GO:0010971 9.4 RAD51C RAD51B
5 telomere maintenance via recombination GO:0000722 9.32 RAD51C RAD51
6 anterior/posterior axon guidance GO:0033564 9.16 NTN1 DCC
7 negative regulation of netrin-activated signaling pathway GO:1902842 8.96 NTN1 DCC
8 reciprocal meiotic recombination GO:0007131 8.8 RAD51C RAD51B RAD51

Molecular functions related to Mirror Movements 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 four-way junction DNA binding GO:0000400 8.96 RAD51C RAD51B
2 DNA-dependent ATPase activity GO:0008094 8.8 RAD51C RAD51B RAD51

Sources for Mirror Movements 1

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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