Oculocerebrorenal syndrome of Lowe
ORPHA:534Malformation syndromeX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)120
Очень частый (80–99%)22
HP:0000083Renal insufficiency
HP:0000091Abnormal renal tubule morphology
HP:0000093Proteinuria
HP:0000518Cataract
HP:0000615Abnormal pupil morphology
HP:0000639Nystagmus
HP:0000646Amblyopia
HP:0000716Depression
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0001249Intellectual disability
HP:0001284Areflexia
HP:0001319Neonatal hypotonia
HP:0001608Abnormality of the voice
HP:0001944Dehydration
HP:0002049Proximal renal tubular acidosis
HP:0002150Hypercalciuria
HP:0002381Aphasia
HP:0002902Hyponatremia
HP:0003355Aminoaciduria
HP:0004322Short stature
HP:0100820Glomerulopathy
Частый (30–79%)35
HP:0001382Joint hypermobility
HP:0000358Posteriorly rotated ears
HP:0008872Feeding difficulties in infancy
HP:0008069Neoplasm of the skin
HP:0100512Low levels of vitamin D
HP:0100530Abnormality of calcium-phosphate metabolism
HP:0100716Self-injurious behavior
HP:0100835Benign neoplasm of the central nervous system
HP:0007513Generalized hypopigmentation
HP:0000028Cryptorchidism
HP:0000276Long face
HP:0000293Full cheeks
HP:0000411Protruding ear
HP:0000490Deeply set eye
HP:0000501Glaucoma
HP:0000557Buphthalmos
HP:0000722Compulsive behaviors
HP:0000843Hyperparathyroidism
HP:0001250Seizure
HP:0001369Arthritis
HP:0001386Joint swelling
HP:0001508Failure to thrive
HP:0001873Thrombocytopenia
HP:0002007Frontal bossing
HP:0002019Constipation
HP:0002119Ventriculomegaly
HP:0002169Clonus
HP:0002209Sparse scalp hair
HP:0002213Fine hair
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0002749Osteomalacia
HP:0002757Recurrent fractures
HP:0002900Hypokalemia
HP:0007018Attention deficit hyperactivity disorder
Периодический (5–29%)63
HP:0000023Inguinal hernia
HP:0000027Azoospermia
HP:0000121Nephrocalcinosis
HP:0000164Abnormality of the dentition
HP:0000189Narrow palate
HP:0000194Open mouth
HP:0000219Thin upper lip vermilion
HP:0000230Gingivitis
HP:0000232Everted lower lip vermilion
HP:0000303Mandibular prognathia
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000389Chronic otitis media
HP:0000486Strabismus
HP:0000568Microphthalmia
HP:0000582Upslanted palpebral fissure
HP:0000632Lacrimation abnormality
HP:0000670Carious teeth
HP:0000678Dental crowding
HP:0000679Taurodontia
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000704Periodontitis
HP:0000772Abnormal rib morphology
HP:0000787Nephrolithiasis
HP:0000790Hematuria
HP:0000823Delayed puberty
HP:0000859Hyperaldosteronism
HP:0000873Diabetes insipidus
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0000987Atypical scarring of skin
HP:0001387Joint stiffness
HP:0001522Death in infancy
HP:0001537Umbilical hernia
HP:0001903Anemia
HP:0002002Deep philtrum
HP:0002020Gastroesophageal reflux
HP:0002024Malabsorption
HP:0002093Respiratory insufficiency
HP:0002148Hypophosphatemia
HP:0002151Increased circulating lactate concentration
HP:0002205Recurrent respiratory infections
HP:0002808Kyphosis
HP:0002827Hip dislocation
HP:0002857Genu valgum
HP:0002999Patellar dislocation
HP:0003124Hypercholesterolemia
HP:0005469Flat occiput
HP:0005562Multiple renal cysts
HP:0005930Abnormality of epiphysis morphology
HP:0007731Chorioretinal dysplasia
HP:0007957Corneal opacity
HP:0009804Tooth agenesis
HP:0010471Oligosacchariduria
HP:0010807Open bite
HP:0011527Lentiglobus
HP:0100493Hypoammonemia
HP:0100589Urogenital fistula
HP:0100612Odontogenic neoplasm
HP:0100750Atelectasis
HP:0100825Cheilitis
HP:0200042Skin ulcer
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)