DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
ORPHA:268261Etiological subtypeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)97
Очень частый (80–99%)6
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001999Abnormal facial shape
HP:0011968Feeding difficulties
HP:0410263Brain imaging abnormality
Частый (30–79%)22
HP:0000119Abnormality of the genitourinary system
HP:0000252Microcephaly
HP:0000426Prominent nasal bridge
HP:0000478Abnormality of the eye
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001251Ataxia
HP:0001344Absent speech
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0001531Failure to thrive in infancy
HP:0001760Abnormal foot morphology
HP:0001780Abnormality of toe
HP:0002019Constipation
HP:0002119Ventriculomegaly
HP:0002136Broad-based gait
HP:0002365Hypoplasia of the brainstem
HP:0002465Poor speech
HP:0003429CNS hypomyelination
HP:0004322Short stature
HP:00057682-4 toe cutaneous syndactyly
HP:0011757Posterior pituitary hypoplasia
Периодический (5–29%)48
HP:0000010Recurrent urinary tract infections
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000041Chordee
HP:0000047Hypospadias
HP:0000049Shawl scrotum
HP:0000122Unilateral renal agenesis
HP:0000278Retrognathia
HP:0000411Protruding ear
HP:0000430Underdeveloped nasal alae
HP:0000455Broad nasal tip
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000518Cataract
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000565Esotropia
HP:0000582Upslanted palpebral fissure
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0000767Pectus excavatum
HP:0000818Abnormality of the endocrine system
HP:0001276Hypertonia
HP:0001562Oligohydramnios
HP:0001822Hallux valgus
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002021Pyloric stenosis
HP:0002033Poor suck
HP:0002069Bilateral tonic-clonic seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0002120Cerebral cortical atrophy
HP:0002123Generalized myoclonic seizure
HP:0002171Gliosis
HP:0002360Sleep abnormality
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003196Short nose
HP:0010819Atonic seizure
HP:0010946Dilatation of the renal pelvis
HP:0011147Typical absence seizure
HP:0011470Nasogastric tube feeding in infancy
HP:0011822Broad chin
HP:0011917Short 5th toe
HP:0012171Stereotypical hand wringing
HP:0025163Abnormality of optic chiasm morphology
Очень редкий (1–4%)21
HP:0000054Micropenis
HP:0000185Cleft soft palate
HP:0000365Hearing impairment
HP:0000483Astigmatism
HP:0000541Retinal detachment
HP:0000612Iris coloboma
HP:0000687Widely spaced teeth
HP:0000821Hypothyroidism
HP:0000824Decreased response to growth hormone stimulation test
HP:0000960Sacral dimple
HP:0001256Intellectual disability, mild
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001641Abnormal pulmonary valve morphology
HP:0001650Aortic valve stenosis
HP:0001659Aortic regurgitation
HP:0010314Premature thelarche
HP:0010442Polydactyly
HP:0011069Supernumerary tooth
HP:0040188Osteochondrosis
HP:0100783Breast aplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)