Details of Disease

General Information of Disease (ID: DISJLV92)

• Disease Name: Familial congenital mirror movements
• Synonyms: congenital mirror movements; congenital mirror movement disorder; CMM; bimanual synkinesis; familial congenital mirror movements; hereditary congenital controlateral synkinesia; hereditary congenital mirror movements; familial congenital controlateral synkinesia; isolated congenital mirror movements; isolated congenital controlateral synkinesia
• Definition: 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.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISD715V: Hereditary neurological disease
  DISOJJ2D: Movement disorder
  DISJLV92: Familial congenital mirror movements
• Disease Identifiers:
  MONDO ID: MONDO_0016558
  UMLS CUI: C0454455
  MedGen ID: 473166
  HPO ID: HP:0001335
  Orphanet ID: 238722
  SNOMED CT ID: 229247004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NTN1	TT0AH4L	Supportive	Autosomal dominant	[1]
RAD51	TTC0G1L	Supportive	Autosomal dominant	[2]
CDH2	TT1WS0T	moderate	Genetic Variation	[3]
NTN1	TT0AH4L	moderate	Genetic Variation	[1]
RAD51	TTC0G1L	moderate	Genetic Variation	[4]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCC	OT2C1SHW	Supportive	Autosomal dominant	[5]
DNAL4	OTHGA93D	Supportive	Autosomal dominant	[6]
NTN1	OTUQH74P	Supportive	Autosomal dominant	[1]
RAD51	OTNVWGC1	Supportive	Autosomal dominant	[2]
GDF6	OTERXWJU	Strong	Genetic Variation	[7]
NTNG1	OTF48IID	Strong	Genetic Variation	[8]
POMK	OT36HLDO	Strong	Genetic Variation	[9]

References

• [1] Mutations in the netrin-1 gene cause congenital mirror movements. J Clin Invest. 2017 Nov 1;127(11):3923-3936. doi: 10.1172/JCI95442. Epub 2017 Sep 25.
• [2] RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet. 2012 Feb 10;90(2):301-7. doi: 10.1016/j.ajhg.2011.12.002. Epub 2012 Feb 2.
• [3] De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.
• [4] Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation.Diagn Interv Radiol. 2018 Nov;24(6):392-401. doi: 10.5152/dir.2018.18096.
• [5] Mutations in DCC cause congenital mirror movements. Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463.
• [6] 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. Hum Genet. 2014 Nov;133(11):1419-29. doi: 10.1007/s00439-014-1475-8. Epub 2014 Aug 7.
• [7] Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.
• [8] Neural function in DCC mutation carriers with and without mirror movements.Ann Neurol. 2019 Mar;85(3):433-442. doi: 10.1002/ana.25418. Epub 2019 Feb 4.
• [9] Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.Neuromuscul Disord. 2017 Mar;27(3):239-242. doi: 10.1016/j.nmd.2016.12.008. Epub 2016 Dec 23.