Incontinentia pigmenti
ORPHA:464Malformation syndromeX-linked dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)67
Очень частый (80–99%)13
HP:0000668Hypodontia
HP:0000988Skin rash
HP:0001000Abnormality of skin pigmentation
HP:0001053Hypopigmented skin patches
HP:0001231Abnormal fingernail morphology
HP:0001595Abnormality of the hair
HP:0001597Abnormality of the nail
HP:0001804Hypoplastic fingernail
HP:0007400Irregular hyperpigmentation
HP:0008066Abnormal blistering of the skin
HP:0010783Erythema
HP:0100585Telangiectasia of the skin
HP:0200043Verrucae
Частый (30–79%)24
HP:0000202Orofacial cleft
HP:0000364Hearing abnormality
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000684Delayed eruption of teeth
HP:0000962Hyperkeratosis
HP:0000975Hyperhidrosis
HP:0001288Gait disturbance
HP:0001596Alopecia
HP:0001880Eosinophilia
HP:0002558Supernumerary nipple
HP:0002650Scoliosis
HP:0002797Osteolysis
HP:0004097Deviation of finger
HP:0004322Short stature
HP:0005815Supernumerary ribs
HP:0005922Abnormal hand morphology
HP:0006482Abnormal dental morphology
HP:0007018Attention deficit hyperactivity disorder
HP:0007957Corneal opacity
HP:0010978Abnormality of immune system physiology
HP:0100490Camptodactyly of finger
HP:0100555Asymmetric growth
HP:0200042Skin ulcer
Периодический (5–29%)30
HP:0000491Keratitis
HP:0000518Cataract
HP:0000532Chorioretinal abnormality
HP:0000541Retinal detachment
HP:0000554Uveitis
HP:0000568Microphthalmia
HP:0000573Retinal hemorrhage
HP:0000592Blue sclerae
HP:0000682Abnormality of dental enamel
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001537Umbilical hernia
HP:0001635Congestive heart failure
HP:0001810Dystrophic toenail
HP:0001821Broad nail
HP:0002092Pulmonary arterial hypertension
HP:0002120Cerebral cortical atrophy
HP:0002383Infectious encephalitis
HP:0002637Cerebral ischemia
HP:0003298Spina bifida occulta
HP:0004050Absent hand
HP:0004374Hemiplegia/hemiparesis
HP:0006101Finger syndactyly
HP:0007850Retinal vascular proliferation
HP:0008388Abnormal toenail morphology
HP:0008402Ridged fingernail
HP:0100543Cognitive impairment
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)