ORPHA:238722
Familial congenital mirror movements
Synonyms: Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia · Hereditary congenital mirror movements · Isolated congenital controlateral synkinesia · Isolated congenital mirror movements
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial congenital mirror movements | Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia · Hereditary congenital mirror movements · Isolated congenital controlateral synkinesia · Isolated congenital mirror movements |
| fr | Mouvements en miroir congénitaux familiaux | Mouvements en miroir congénitaux héréditaires · Mouvements en miroir congénitaux isolés · Syncinésie controlatérale congénitale familiale · Syncinésie controlatérale congénitale héréditaire · Syncinésie controlatérale congénitale isolée |
| de | Spiegelbewegungen, familiäre kongenitale | Kontralaterale Synkinesie, isolierte kongenitale · Spiegelbewegungen, isolierte kongenitale · Synkinesie, kontralaterale, familiäre |
| es | Movimientos en espejo congénitos familiares | Movimientos en espejo congénitos aislados · Movimientos en espejo congénitos hereditarios · Sincinesia contralateral congénita aislada · Sincinesia contralateral congénita familiar · Sincinesia contralateral congénita hereditaria |
| it | Movimenti a specchio congeniti familiari | Movimenti a specchio congeniti ereditari · Movimenti a specchio congeniti isolati · Sincinesia controlaterale congenita ereditaria · Sincinesia controlaterale congenita familiare · Sincinesia controlaterale congenita isolata |
| nl | Familiale congenitale spiegelbewegingen | Erfelijke congenitale controlaterale synkinesie · Erfelijke congenitale spiegelbewegingen · Familiale aangeboren controlaterale synkinesie · Geïsoleerde aangeboren controlaterale synkinesie · Geïsoleerde congenitale spiegelbewegingen |
| pt | Movimentos em espelho congénitos familiares | |
| pl | Rodzinne wrodzone ruchy lustrzane | Dziedziczna wrodzona synkinezja kontrlateralna · Dziedziczne wrodzone ruchy lustrzane · Izolowana wrodzona synkinezja kontrlateralna · Izolowane wrodzone ruchy lustrzane · Rodzinna wrodzona synkinezja kontrlateralna |
| cs | Familiární vrozené zrcadlové pohyby | Familiární vrozená kontralaterální synkineze · Hereditární vrozená kontralaterální synkineze · Hereditární vrozené zrcadlové pohyby · Izolovaná vrozená kontralaterální synkineze · Izolované vrozené zrcadlové pohyby |
| uk | Сімейні вроджені дзеркальні рухи | Сімейна вроджена контрольна латеральна синкинезія · Спадкова вроджена контролатеральна синкинезія · Спадкові вроджені дзеркальні рухи · Ізольована вроджена контролатеральна синкинезія · Ізольовані вроджені дзеркальні рухи |
| zh | 家族性先天性镜像运动 | 遗传性先天性控制侧联带运动 |
| tr | ailesel doğumsal ayna hareketleri | İzole doğumsal ayna hareketleri · Kalıtsal doğumsal ayna hareketleri · Ailesel doğumsal kontrolateral sinkinezi · İzole doğumsal kontrolateral sinkinezi · Kalıtsal doğumsal kontrolateral sinkinezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157600 | BTNT | validated | |
| OMIM | 614508 | BTNT | validated | |
| OMIM | 616059 | BTNT | validated | |
| OMIM | 618264 | BTNT | validated | |
| ICD-10 | G25.8 | NTBT | attributed | validated |
| ICD-11 | 8A0Y | NTBT | index | validated |
| MONDO | 0016558 | E | validated | |
| UMLS | C5191311 | E | validated | |
| GARD | 12551 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183521Rare genetic movement disorder
rare genetic diseases - ORPHA:102003Rare movement disorder
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCC | Disease-causing germline mutation(s) in | Assessed | HGNC:2701 | ENSG00000187323 | 120470 | 18q21.2 | DCC netrin 1 receptor | 20431009[PMID] |
| DNAL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2955 | ENSG00000100246 | 610565 | 22q13.1 | dynein axonemal light chain 4 | 25098561[PMID] |
| NTN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8029 | ENSG00000065320 | 601614 | 17p13.1 | netrin 1 | 28945198[PMID] |
| RAD51 | Disease-causing germline mutation(s) in | Assessed | HGNC:9817 | ENSG00000051180 | 179617 | 15q15.1 | RAD51 recombinase | 22305526[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 75 cases | Worldwide | Case(s) | Validated | 19127048[PMID]_19720981[PMID]_21242494[PMID]_27830107[PMID]_25098561[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19127048[PMID]_19720981[PMID]_21242494[PMID]_27830107[PMID]_25098561[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
14 annotations · validated 2018-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001335 | Bimanual synkinesia | |
| HP:0002312 | Clumsiness | |
| HP:0003388 | Easy fatigability | |
| HP:0002492 | Morphological abnormality of the corticospinal tract | |
| HP:0007010 | Poor fine motor coordination | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0025101 | Dysgenesis of the hippocampus | |
| HP:0003326 | Myalgia | |
| HP:0001328 | Specific learning disability | |
| Very rare (<4-1%) | ||
| HP:0100021 | Cerebral palsy | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
Annotation source: 19127048[PMID]_20431009[PMID]_28250454[PMID]_14639670[PMID]_25098561[PMID]_14639670[PMID]_21242494[PMID]_25813273[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238722
- This record as JSON: /data/d/238722.json