Distal 22q11.2 microdeletion syndrome
ORPHA:261330Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BCR | BCR activator of RhoGEF and GTPase | Role in the phenotype of | gene with protein product | 151410 |
| MAPK1 | mitogen-activated protein kinase 1 | Role in the phenotype of | gene with protein product | 176948 |
| CRKL | CRK like proto-oncogene, adaptor protein | Role in the phenotype of | gene with protein product | 602007 |
Фенотипы (HPO)60
Очень частый (80–99%)7
HP:0000319Smooth philtrum
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001622Premature birth
HP:0002463Language impairment
HP:0002553Highly arched eyebrow
HP:0004322Short stature
Частый (30–79%)13
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000307Pointed chin
HP:0000363Abnormality of earlobe
HP:0000430Underdeveloped nasal alae
HP:0000490Deeply set eye
HP:0001511Intrauterine growth retardation
HP:0001660Truncus arteriosus
HP:0001763Pes planus
HP:0001802Absent toenail
HP:0001817Absent fingernail
HP:0002664Neoplasm
HP:0004209Clinodactyly of the 5th finger
Периодический (5–29%)40
HP:0000010Recurrent urinary tract infections
HP:0000023Inguinal hernia
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000272Malar flattening
HP:0000276Long face
HP:0000324Facial asymmetry
HP:0000407Sensorineural hearing impairment
HP:0000426Prominent nasal bridge
HP:0000453Choanal atresia
HP:0000581Blepharophimosis
HP:0000657Oculomotor apraxia
HP:0000716Depression
HP:0000722Compulsive behaviors
HP:0001166Arachnodactyly
HP:0001250Seizure
HP:0001510Growth delay
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001659Aortic regurgitation
HP:0001770Toe syndactyly
HP:0001852Sandal gap
HP:0002021Pyloric stenosis
HP:0002205Recurrent respiratory infections
HP:0002607Bowel incontinence
HP:0002673Coxa valga
HP:0002705High, narrow palate
HP:0002721Immunodeficiency
HP:0003307Hyperlordosis
HP:0004279Short palm
HP:0004942Aortic aneurysm
HP:0006487Bowing of the long bones
HP:0007018Attention deficit hyperactivity disorder
HP:0009465Ulnar deviation of finger
HP:0009795Branchial fistula
HP:0009882Short distal phalanx of finger
HP:0010296Ankyloglossia
HP:0100033Tics
HP:0100490Camptodactyly of finger
HP:0001382Joint hypermobility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)