Nail-patella syndrome
ORPHA:2614Malformation syndromeAutosomal dominantAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)72
Очень частый (80–99%)2
HP:0001597Abnormality of the nail
HP:0011297Abnormal digit morphology
Частый (30–79%)15
HP:0000077Abnormality of the kidney
HP:0001369Arthritis
HP:0001371Flexion contracture
HP:0001763Pes planus
HP:0002019Constipation
HP:0002815Abnormality of the knee
HP:0002987Elbow flexion contracture
HP:0003199Decreased muscle mass
HP:0003418Back pain
HP:0008034Abnormal iris pigmentation
HP:0008110Equinovarus deformity
HP:0009780Iliac horns
HP:0009811Abnormality of the elbow
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0100798Fingernail dysplasia
Периодический (5–29%)52
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000123Nephritis
HP:0000348High forehead
HP:0000478Abnormality of the eye
HP:0000767Pectus excavatum
HP:0000790Hematuria
HP:0000939Osteoporosis
HP:0001250Seizure
HP:0001377Limited elbow extension
HP:0001762Talipes equinovarus
HP:0001771Achilles tendon contracture
HP:0001772Talipes equinovalgus
HP:0001884Talipes calcaneovalgus
HP:0002650Scoliosis
HP:0002823Abnormality of femur morphology
HP:0002938Lumbar hyperlordosis
HP:0002967Cubitus valgus
HP:0002992Abnormality of tibia morphology
HP:0002999Patellar dislocation
HP:0003045Abnormal patella morphology
HP:0003065Patellar hypoplasia
HP:0003083Dislocated radial head
HP:0003302Spondylolisthesis
HP:0003304Spondylolysis
HP:0003774Stage 5 chronic kidney disease
HP:0004209Clinodactyly of the 5th finger
HP:0004349Reduced bone mineral density
HP:0004722Thickening of the glomerular basement membrane
HP:0005190Proximal finger joint hyperextensibility
HP:0006297Enamel hypoplasia
HP:0006380Knee flexion contracture
HP:0006394Limited pronation/supination of forearm
HP:0006443Patellar aplasia
HP:0007328Impaired pain sensation
HP:0007906Ocular hypertension
HP:0008007Primary congenital glaucoma
HP:0008124Talipes calcaneovarus
HP:0009697Contracture of the distal interphalangeal joint of the fingers
HP:0009760Antecubital pterygium
HP:0009781Lester's sign
HP:0009890High anterior hairline
HP:0010829Impaired temperature sensition
HP:0010886Osteochondritis Dissecans
HP:0012108Open angle glaucoma
HP:0030051Tip-toe gait
HP:0030839Knee pain
HP:0031006Acroparesthesia
HP:0031910Abnormal cranial nerve physiology
HP:0045086Knee joint hypermobility
HP:0100797Toenail dysplasia
Очень редкий (1–4%)3
HP:0002597Abnormality of the vasculature
HP:0005290Internal carotid artery hypoplasia
HP:0006702Coronary artery dissection
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.2 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)