Lacrimoauriculodentodigital syndrome
ORPHA:2363Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FGF10 | fibroblast growth factor 10 | Disease-causing germline mutation(s) in | gene with protein product | 602115 |
| FGFR3 | fibroblast growth factor receptor 3 | Disease-causing germline mutation(s) in | gene with protein product | 134934 |
| FGFR2 | fibroblast growth factor receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 176943 |
Фенотипы (HPO)63
Очень частый (80–99%)1
HP:0000164Abnormality of the dentition
Частый (30–79%)11
HP:0000217Xerostomia
HP:0000377Abnormal pinna morphology
HP:0000478Abnormality of the eye
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0001097Keratoconjunctivitis sicca
HP:0009926Epiphora
HP:0010286Abnormal salivary gland morphology
HP:0011297Abnormal digit morphology
HP:0011481Abnormal lacrimal duct morphology
HP:0011482Abnormal lacrimal gland morphology
Периодический (5–29%)29
HP:0000369Low-set ears
HP:0000378Cupped ear
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000410Mixed hearing impairment
HP:0000495Recurrent corneal erosions
HP:0000508Ptosis
HP:0000668Hypodontia
HP:0000691Microdontia
HP:0001092Absent lacrimal punctum
HP:0001096Keratoconjunctivitis
HP:0001159Syndactyly
HP:0001172Abnormal thumb morphology
HP:0001770Toe syndactyly
HP:0001999Abnormal facial shape
HP:0002984Hypoplasia of the radius
HP:0006101Finger syndactyly
HP:0006297Enamel hypoplasia
HP:0007656Lacrimal gland aplasia
HP:0007892Hypoplasia of the lacrimal punctum
HP:0007925Lacrimal duct aplasia
HP:0009777Absent thumb
HP:0009778Short thumb
HP:0009942Duplication of thumb phalanx
HP:0011496Corneal neovascularization
HP:0012155Decreased corneal sensation
HP:0012804Corneal ulceration
HP:0030084Clinodactyly
HP:0032107Limbal stem cell deficiency
Очень редкий (1–4%)22
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000089Renal hypoplasia
HP:0000126Hydronephrosis
HP:0000193Bifid uvula
HP:0000202Orofacial cleft
HP:0000347Micrognathia
HP:0000453Choanal atresia
HP:0000458Anosmia
HP:0000577Exotropia
HP:0000813Bicornuate uterus
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001369Arthritis
HP:0001643Patent ductus arteriosus
HP:0002015Dysphagia
HP:0002164Nail dysplasia
HP:0002650Scoliosis
HP:0005349Hypoplasia of the epiglottis
HP:0008551Microtia
HP:0011487Increased corneal thickness
HP:0012108Open angle glaucoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)