KEGG DISEASE: Congenital mirror movements

DISEASE: Congenital mirror movements

Entry

H01287                      Disease

Name

Congenital mirror movements

Description

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.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A07  Certain specified movement disorder
    H01287  Congenital mirror movements
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H01287  Congenital mirror movements
  nt06546  IgSF CAM signaling
   H01287  Congenital mirror movements

Pathway

hsa04360

Axon guidance

hsa03440

Homologous recombination

hsa04517

IGSF CAM signaling

Network

nt06541 Cytoskeleton in neurons
nt06546 IgSF CAM signaling

Gene

(MRMV1) DCC [HSA:1630] [KO:K06765]
(MRMV2) RAD51A [HSA:5888] [KO:K04482]
(MRMV3) DNAL4 [HSA:10126] [KO:K10412]
(MRMV4) NTN1 [HSA:9423] [KO:K06843]

Other DBs

ICD-11:

8A07.Y

OMIM:

157600 614508 616059 618264

Reference

PMID:20431009

Authors

Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA

Title

Mutations in DCC cause congenital mirror movements.

Journal

Science 328:592 (2010)
DOI:10.1126/science.1186463

Reference

PMID:22305526

Authors

Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E

Title

RAD51 haploinsufficiency causes congenital mirror movements in humans.

Journal

Am J Hum Genet 90:301-7 (2012)
DOI:10.1016/j.ajhg.2011.12.002

Reference

PMID:25098561

Authors

Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB

Title

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.

Journal

Hum Genet 133:1419-29 (2014)
DOI:10.1007/s00439-014-1475-8

Reference

PMID:28945198

Authors

Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D

Title

Mutations in the netrin-1 gene cause congenital mirror movements.

Journal

J Clin Invest 127:3923-3936 (2017)
DOI:10.1172/JCI95442

LinkDB

» Japanese version

DISEASE: Horizontal gaze palsy with progressive scoliosis

Entry

H02450                      Disease

Name

Horizontal gaze palsy with progressive scoliosis

Description

Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.