Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | |
| fr | Syndrome de déficience intellectuelle-mouvements hyperkinétiques-ataxie tronculaire | |
| de | Intelligenzminderung-Hyperkinetische Bewegungsstörungen-Trunkale Ataxie-Syndrom | |
| es | Síndrome de discapacidad intelectual-movimiento hipercinético-ataxia troncal | |
| it | Sindrome da disabilità intellettiva, ipercinesia e atassia del tronco | |
| nl | Intellectuele achterstand - hyperkinetische beweging - rompataxie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-movimentos hipercinéticos-ataxia do tronco | |
| pl | Zespół niepełnosprawność intelektualna-ruchy hiperkinetyczne-ataksja tułowia | |
| cs | Syndrom zahrnující mentální retardaci, hyperkinetické pohyby a trunkální ataxii | |
| uk | Синдром інтелектуальної недостатності-гіперкінетичної рухової атаксії | |
| zh | 智力障碍-多动-躯干共济失调综合征 | |
| tr | Zihinsel yetersizlik-hiperkinetik hareket-trunkal ataksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G25.5 | NTBT | attributed | validated |
| MONDO | 0018243 | E | validated | |
| UMLS | C5192595 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:306715Rare choreic movement disorder
rare neurological diseases - ORPHA:183521Rare genetic movement disorder
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRAPPC11 | Disease-causing germline mutation(s) in | Assessed | HGNC:25751 | ENSG00000168538 | 614138 | 4q35.1 | trafficking protein particle complex subunit 11 | 23830518[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 23830518[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2018-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0002072 | Chorea | |
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001249 | Intellectual disability | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0002650 | Scoliosis | |
| HP:0002078 | Truncal ataxia | |
| Occasional (29-5%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0008947 | Floppy infant | |
| HP:0000545 | Myopia | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0005133 | Right ventricular dilatation | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Annotation source: 23830518[PMID]_26322222[PMID]_27862579[PMID]_27707803[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369847
- This record as JSON: /data/d/369847.json