ORPHA:464311
Intellectual disability syndrome due to a DYRK1A point mutation
Synonyms: DYRK1A-related intellectual disability syndrome due to a point mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under DYRK1A-related intellectual disability syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability syndrome due to a DYRK1A point mutation | DYRK1A-related intellectual disability syndrome due to a point mutation |
| fr | Syndrome de déficience intellectuelle dû à une mutation ponctuelle de DYRK1A | |
| de | Intelligenzminderung durch Punktmutationen im DYRK1A-Gen | |
| es | Síndrome de discapacidad intelectual por una mutación puntual en el gen DYRK1A | Síndrome de discapacidad intelectual asociado a DYRK1A por una mutación puntual · Síndrome de discapacidad intelectual asociado al gen DYRK1A por una mutación puntual |
| it | Sindrome disabilità intellettiva da mutazione puntiforme in DYRK1A | Disabilità intellettiva sindromica correlata a DYRK1A da mutazione puntiforme |
| nl | Intellectuele achterstand-syndroom door puntmutatie in DYRK1A | DYRK1A-gerelateerd intellectuele achterstand-syndroom door puntmutatie |
| pt | Síndrome de perturbação do desenvolvimento intelectual devida a mutação pontual DYRK1A | Síndrome de perturbação do desenvolvimento intelectual devida a mutação pontual DYRK1A-relacionada |
| pl | Zespół niepełnosprawności intelektualnej spowodowany mutacją punktową DYRK1A | Zespół niepełnosprawności intelektualnej zależny od DYRK1A spowodowany mutacją punktową |
| cs | Syndrom s mentální retardací způsobený bodovou mutací DYRK1A | DYRK1A-related intellectual disability syndrome due to a point mutation · Syndrom mentálního postižení souvisejícího s DYRK1A způsobený bodovou mutací |
| uk | Синдром інтелектуальної недостатності, зумовлений точковою мутацією DYRK1A | Синдром інтелектуальної недостатності, повязаний з DYRK1A, внаслідок точкової мутації |
| zh | DYRK1A点突变相关的智力障碍 | DYRK1A点突变相关的智力障碍综合症 |
| tr | DYRK1A nokta mutasyonuna bağlı zihinsel yetersizlik sendromu | Nokta mutasyonuna bağlı DYRK1A-ilişkili zihinsel yetersizlik sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614104 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0018733 | E | validated | |
| UMLS | C5679991 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:464306DYRK1A-related intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYRK1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3091 | ENSG00000157540 | 600855 | 21q22.13 | dual specificity tyrosine phosphorylation regulated kinase 1A | 25944381[PMID]_25641759[PMID]_26677511[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 26922654[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26922654[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.
6
HPO phenotypes
68 annotations · validated 2020-09-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000708 | Atypical behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0009121 | Abnormal axial skeleton morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000504 | Abnormality of vision | |
| HP:0001344 | Absent speech | |
| HP:0000739 | Anxiety | |
| HP:0000729 | Autistic behavior | |
| HP:0003561 | Birth length less than 3rd percentile | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001270 | Motor delay | |
| HP:0001250 | Seizure | |
| HP:0001518 | Small for gestational age | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0000646 | Amblyopia | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0000483 | Astigmatism | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0007957 | Corneal opacity | |
| HP:0000490 | Deeply set eye | |
| HP:0000577 | Exotropia | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002808 | Kyphosis | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0000543 | Optic disc pallor | |
| HP:0000767 | Pectus excavatum | |
| HP:0011757 | Posterior pituitary hypoplasia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0002719 | Recurrent infections | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0001831 | Short toe | |
| HP:0011171 | Simple febrile seizure | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0002247 | Duodenal atresia | |
| HP:0000126 | Hydronephrosis | |
| HP:0000047 | Hypospadias | |
| HP:0000054 | Micropenis | |
| HP:0001562 | Oligohydramnios | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000125 | Pelvic kidney | |
| HP:0001561 | Polyhydramnios | |
| HP:0000107 | Renal cyst | |
| HP:0000541 | Retinal detachment | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 26922654[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464311
- This record as JSON: /data/d/464311.json