Neurocutaneous melanocytosis
ORPHA:2481DiseaseNot applicableChildhood
Фенотипы (HPO)46
Очень частый (80–99%)9
HP:0000995Melanocytic nevus
HP:0001072Thickened skin
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0002230Generalized hirsutism
HP:0002516Increased intracranial pressure
HP:0002922Increased CSF protein concentration
HP:0005603Numerous congenital melanocytic nevi
HP:0007440Generalized hyperpigmentation
Частый (30–79%)2
HP:0000238Hydrocephalus
HP:0001085Papilledema
Периодический (5–29%)34
HP:0002353EEG abnormality
HP:0002381Aphasia
HP:0002383Infectious encephalitis
HP:0002435Meningocele
HP:0002664Neoplasm
HP:0002861Melanoma
HP:0003396Syringomyelia
HP:0004936Venous thrombosis
HP:0006824Cranial nerve paralysis
HP:0006979Sleep-wake cycle disturbance
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007703Abnormality of retinal pigmentation
HP:0008678Renal hypoplasia/aplasia
HP:0011972Hypoglycorrhachia
HP:0012470Setting-sun eye phenomenon
HP:0000009Functional abnormality of the bladder
HP:0000505Visual impairment
HP:0000567Chorioretinal coloboma
HP:0000603Central scotoma
HP:0000648Optic atrophy
HP:0000708Atypical behavior
HP:0000709Psychosis
HP:0000737Irritability
HP:0001268Mental deterioration
HP:0001269Hemiparesis
HP:0001305Dandy-Walker malformation
HP:0001522Death in infancy
HP:0002015Dysphagia
HP:0002119Ventriculomegaly
HP:0002170Intracranial hemorrhage
HP:0002176Spinal cord compression
HP:0002269Abnormality of neuronal migration
HP:0002308Chiari malformation
HP:0002315Headache
Очень редкий (1–4%)1
HP:0000989Pruritus
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.25 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)