ORPHA:464306
DYRK1A-related intellectual disability syndrome
Synonyms: DYRK1A syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, Unknown
- Age of onset
- Infancy
- Status
- active
A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DYRK1A-related intellectual disability syndrome | DYRK1A syndrome |
| fr | Syndrome de déficience intellectuelle associé à DYRK1A | Syndrome de DYRK1A |
| de | Intelligenzminderung-Syndrom, DYRK1A-assoziiertes | DYRK1A-Syndrom |
| es | Síndrome de discapacidad intelectual asociado al gen DYRK1A | Síndrome DYRK1A |
| it | Sindrome da disabilità intellettiva correlata a DYRK1A | Sindrome DYRK1A |
| nl | DYRK1A-gerelateerd intellectuele achterstand-syndroom | DYRK1A-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual DYRK1A-relacionada | Síndrome DYRK1A |
| pl | Zespół niepełnosprawności intelektualnej zależny od DYRK1A | = en |
| cs | DYRK1A-vázaný syndrom s mentální retardací | = en |
| uk | Синдром інтелектуальної недостатності, повязаний з DYRK1A | Синдром DYRK1A |
| zh | DYRK1A相关的智力障碍 | = en |
| tr | DYRK1A-ilişkili zihinsel yetersizlik sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614104 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0013578 | E | validated | |
| UMLS | C5568143 | E | validated | |
| GARD | 13527 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| DYRK1A | ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation | 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] |
| DYRK1A | ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | Role in the phenotype of | Assessed | HGNC:3091 | ENSG00000157540 | 600855 | 21q22.13 | dual specificity tyrosine phosphorylation regulated kinase 1A | 21031080[PMID]_25944381[PMID]_26677511[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 54 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.
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HPO phenotypes
73 annotations · validated 2019-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003086 | Acromesomelia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0001508 | Failure to thrive | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002465 | Poor speech | |
| HP:0011451 | Primary microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001518 | Small for gestational age | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001166 | Arachnodactyly | |
| HP:0000483 | Astigmatism | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0007957 | Corneal opacity | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0000577 | Exotropia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000752 | Hyperactivity | |
| HP:0000540 | Hypermetropia | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000400 | Macrotia | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0011832 | Narrow nasal tip | |
| HP:0000543 | Optic disc pallor | |
| HP:0010442 | Polydactyly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0002719 | Recurrent infections | |
| HP:0000486 | Strabismus | |
| HP:0001770 | Toe syndactyly | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0003187 | Breast hypoplasia | |
| HP:0002247 | Duodenal atresia | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0001822 | Hallux valgus | |
| HP:0000126 | Hydronephrosis | |
| HP:0000047 | Hypospadias | |
| HP:0002808 | Kyphosis | |
| HP:0000054 | Micropenis | |
| HP:0001562 | Oligohydramnios | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000125 | Pelvic kidney | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000107 | Renal cyst | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0010219 | Structural foot deformity | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 26922654[PMID]_26677511[PMID]_23099646[PMID]_21294719[PMID]_18405873[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464306
- This record as JSON: /data/d/464306.json