Cleft lip/palate

ORPHA:199306Morphological anomalyMultigenic/multifactorialInfancy, Neonatal

Ассоциированные гены13

Ген	Полное название	Тип связи	Тип гена	OMIM
ARHGAP29	Rho GTPase activating protein 29	Major susceptibility factor in	gene with protein product	610496
TP63	tumor protein p63	Major susceptibility factor in	gene with protein product	603273
BMP4	bone morphogenetic protein 4	Major susceptibility factor in	gene with protein product	112262
COBLL1	cordon-bleu WH2 repeat protein like 1	Major susceptibility factor in	gene with protein product	610318
RIC1	RIC1 partner of RAB6A GEF complex	Major susceptibility factor in	gene with protein product	610354
NECTIN1	nectin cell adhesion molecule 1	Major susceptibility factor in	gene with protein product	600644
ARHGEF38	Rho guanine nucleotide exchange factor 38	Major susceptibility factor in	gene with protein product	619919
CDH1	cadherin 1	Major susceptibility factor in	gene with protein product	192090
IRF6	interferon regulatory factor 6	Major susceptibility factor in	gene with protein product	607199
PDGFRA	platelet derived growth factor receptor alpha	Major susceptibility factor in	gene with protein product	173490
MSX1	msh homeobox 1	Major susceptibility factor in	gene with protein product	142983
DLG1	discs large MAGUK scaffold protein 1	Major susceptibility factor in	gene with protein product	601014
DLX4	distal-less homeobox 4	Disease-causing germline mutation(s) in	gene with protein product	601911

Очень частый (80–99%)1

HP:0006292Abnormality of dental eruption

Частый (30–79%)10

HP:0000175Cleft palate

HP:0000202Orofacial cleft

HP:0000220Velopharyngeal insufficiency

HP:0000403Recurrent otitis media

HP:0000750Delayed speech and language development

HP:0002033Poor suck

HP:0008872Feeding difficulties in infancy

HP:0009088Speech articulation difficulties

HP:0100334Unilateral cleft palate

HP:0200136Oral-pharyngeal dysphagia

Периодический (5–29%)9

HP:0000405Conductive hearing impairment

HP:0000689Dental malocclusion

HP:0001611Hypernasal speech

HP:0004395Malnutrition

HP:0006342Peg-shaped maxillary lateral incisors

HP:0010294Palate fistula

HP:0011044Abnormal number of permanent teeth

HP:0100337Bilateral cleft palate

HP:0200153Agenesis of lateral incisor

Очень редкий (1–4%)1

HP:0000327Hypoplasia of the maxilla

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-5 / 10 000	—	Europe	Class only
Prevalence at birth	1-5 / 10 000	56	United States	Value and class
Prevalence at birth	6-9 / 10 000	98	France	Value and class
Prevalence at birth	6-9 / 10 000	80	Worldwide	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)