Ellis Van Creveld syndrome
ORPHA:289Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 617083 |
| GLI1 | GLI family zinc finger 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 165220 |
| EVC2 | EvC ciliary complex subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 607261 |
| EVC | EvC ciliary complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 604831 |
| PRKACA | protein kinase cAMP-activated catalytic subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 601639 |
| PRKACB | protein kinase cAMP-activated catalytic subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 176892 |
Фенотипы (HPO)51
Очень частый (80–99%)19
HP:0000164Abnormality of the dentition
HP:0000774Narrow chest
HP:0001161Hand polydactyly
HP:0001231Abnormal fingernail morphology
HP:0001508Failure to thrive
HP:0001595Abnormality of the hair
HP:0001597Abnormality of the nail
HP:0001654Abnormal heart valve morphology
HP:0001800Hypoplastic toenails
HP:0001829Foot polydactyly
HP:0002164Nail dysplasia
HP:0002857Genu valgum
HP:0002983Micromelia
HP:0006695Atrioventricular canal defect
HP:0008921Neonatal short-limb short stature
HP:0009882Short distal phalanx of finger
HP:0010306Short thorax
HP:0011830Abnormal oral mucosa morphology
HP:0030680Abnormal cardiovascular system morphology
Частый (30–79%)18
HP:0000028Cryptorchidism
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000069Abnormality of the ureter
HP:0000077Abnormality of the kidney
HP:0000190Abnormal oral frenulum morphology
HP:0000486Strabismus
HP:0000668Hypodontia
HP:0000691Microdontia
HP:0001241Capitate-hamate fusion
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001651Dextrocardia
HP:0001696Situs inversus totalis
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0011065Conical incisor
Периодический (5–29%)14
HP:0000008Abnormal morphology of female internal genitalia
HP:0000072Hydroureter
HP:0000233Thin vermilion border
HP:0000684Delayed eruption of teeth
HP:0000924Abnormality of the skeletal system
HP:0001249Intellectual disability
HP:0002097Emphysema
HP:0002488Acute leukemia
HP:0002750Delayed skeletal maturation
HP:0002967Cubitus valgus
HP:0005048Synostosis of carpal bones
HP:0005561Abnormality of bone marrow cell morphology
HP:0008678Renal hypoplasia/aplasia
HP:0011362Abnormal hair quantity
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 500 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)