ORPHA:268261
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Synonyms: 21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2) · Monosomy 21q22.13q22.2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | 21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2) · Monosomy 21q22.13q22.2 |
| fr | Syndrome de déficience intellectuelle associé à DYRK1A dû à une microdélétion 21q22.13-q22.2 | Del(21)(q22.13q22.2) · Monosomie 21q22.13q22.2 · Syndrome de microdélétion 21q22.13q22.2 |
| de | Intelligenzminderung-Syndrom, DYRK1A-assoziiertes, durch Mikrodeletion 21q22.13q22.2 | Del(21)(q22.13q22.2) · Mikrodeletionssyndrom 21q22.13q22.2 · Monosomie 21q22.13q22.2 |
| es | Síndrome de discapacidad intelectual asociado a DYRK1A por microdeleción 21q22.13q22.2 | Del(21)(q22.13q22.2) · Monosomía 21q22.13q22.2 · Síndrome de microdeleción 21q22.13q22.2 |
| it | Sindrome da disabilità intellettiva correlata a DYRK1A da microdelezione 21q22.13q22.2 | |
| nl | DYRK1A-gerelateerd intellectuele achterstand-syndroom door 21q22.13q22.2-microdeletie | 21q22.13q22.2-microdeletiesyndroom · Del(21)(q22.13q22.2) · Monosomie 21q22.13q22.2 |
| pt | Síndrome de perturbação do desenvolvimento intelectual DYRK1A-relacionada por microdeleção 21q22.13q22.2 | Del(21)(q22.13q22.2) · Monossomia 21q22.13-q22.2 · Monossomia 21q22.13q22.2 · Síndrome de microdeleção 21q22.13-q22.2 |
| pl | Zespół niepełnosprawności intelektualnej związany z DYRK1A spowodowany mikrodelecją 21q22.13q22.2 | Del(21)(q22.13q22.2) · Monosomia 21q22.13q22.2 · Monosomia 21q22.13-q22.2 · Zespół mikrodelecji 21q22.13q22.2 · Zespół mikrodelecji 21q22.13-q22.2 |
| cs | Syndrom mikrodelece 21q22.13q22.2 | Syndrom mikrodelece 21q22.13-q22.2 · Del(21)(q22.13q22.2) · Monozomie 21q22.13-q22.2 · Monozomie 21q22.13q22.2 |
| uk | DYRK1A-асоційований синдром інтелектуальної недостатності, зумовлений мікроделецією 21q22.13q22.2 | 21q22.13q22.2 синдром мікроделеції · Del(21)(q22.13q22.2) · Моносомія 21q22.13q22.2 |
| zh | 21q22.13q22.2微缺失所致DYRK1A基因相关智力残疾综合征 | 21q22.13q22.2微缺失综合征 |
| tr | 21q22.13q22.2 mikrodelesyonuna bağlı DYRK1A -ilişkili zihinsel yetersizlik sendromu | Del(21)(q22.13q22.2) · Monozomi 21q22.13q22.2 · 21q22.13q22.2 mikrodelesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614104 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.M | NTBT | index | validated |
| MONDO | 0017056 | E | validated | |
| UMLS | C5191008 | 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 (2):
- ORPHA:464306DYRK1A-related intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:262173Partial deletion of the long arm of chromosome 21 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYRK1A | 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] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 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
97 annotations · validated 2020-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0005768 | 2-4 toe cutaneous syndactyly | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0001780 | Abnormality of toe | |
| HP:0001344 | Absent speech | |
| HP:0001251 | Ataxia | |
| HP:0002136 | Broad-based gait | |
| HP:0003429 | CNS hypomyelination | |
| HP:0002019 | Constipation | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0002465 | Poor speech | |
| HP:0011757 | Posterior pituitary hypoplasia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0001182 | Tapered finger | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0025163 | Abnormality of optic chiasm morphology | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0010819 | Atonic seizure | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0011822 | Broad chin | |
| HP:0000455 | Broad nasal tip | |
| HP:0000518 | Cataract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000041 | Chordee | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0010946 | Dilatation of the renal pelvis | |
| HP:0002015 | Dysphagia | |
| HP:0000565 | Esotropia | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002171 | Gliosis | |
| HP:0001822 | Hallux valgus | |
| HP:0000540 | Hypermetropia | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0002808 | Kyphosis | |
| HP:0000545 | Myopia | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0001562 | Oligohydramnios | |
| HP:0000767 | Pectus excavatum | |
| HP:0002033 | Poor suck | |
| HP:0000411 | Protruding ear | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0000049 | Shawl scrotum | |
| HP:0011917 | Short 5th toe | |
| HP:0003196 | Short nose | |
| HP:0002360 | Sleep abnormality | |
| HP:0012171 | Stereotypical hand wringing | |
| HP:0000486 | Strabismus | |
| HP:0011147 | Typical absence seizure | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000582 | Upslanted palpebral fissure | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0001659 | Aortic regurgitation | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0000483 | Astigmatism | |
| HP:0100783 | Breast aplasia | |
| HP:0000185 | Cleft soft palate | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000365 | Hearing impairment | |
| HP:0000821 | Hypothyroidism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000612 | Iris coloboma | |
| HP:0000054 | Micropenis | |
| HP:0040188 | Osteochondrosis | |
| HP:0010442 | Polydactyly | |
| HP:0010314 | Premature thelarche | |
| HP:0000541 | Retinal detachment | |
| HP:0000960 | Sacral dimple | |
| HP:0011069 | Supernumerary tooth | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000687 | Widely spaced teeth | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25944381[PMID]_26677511[PMID]_31263215[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268261
- This record as JSON: /data/d/268261.json