Isolated cleft lip
ORPHA:199302Morphological anomalyMultigenic/multifactorialInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TP63 | tumor protein p63 | Major susceptibility factor in | gene with protein product | 603273 |
| IRF6 | interferon regulatory factor 6 | Major susceptibility factor in | gene with protein product | 607199 |
| NECTIN1 | nectin cell adhesion molecule 1 | Major susceptibility factor in | gene with protein product | 600644 |
| MSX1 | msh homeobox 1 | Major susceptibility factor in | gene with protein product | 142983 |
Фенотипы (HPO)19
Частый (30–79%)2
HP:0000389Chronic otitis media
HP:0100335Non-midline cleft of the upper lip
Периодический (5–29%)10
HP:0000220Velopharyngeal insufficiency
HP:0000708Atypical behavior
HP:0001518Small for gestational age
HP:0001572Macrodontia
HP:0006332Supernumerary maxillary incisor
HP:0009088Speech articulation difficulties
HP:0011438Maternal teratogenic exposure
HP:0031469Low self esteem
HP:0040115Abnormality of the Eustachian tube
HP:0100336Bilateral cleft lip
Очень редкий (1–4%)7
HP:0000405Conductive hearing impairment
HP:0000668Hypodontia
HP:0001328Specific learning disability
HP:0001537Umbilical hernia
HP:0001561Polyhydramnios
HP:0001696Situs inversus totalis
HP:0001762Talipes equinovarus
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)