Linear nevus sebaceus syndrome
ORPHA:2612DiseaseNot applicableChildhood, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HRAS | HRas proto-oncogene, GTPase | Disease-causing somatic mutation(s) in | gene with protein product | 190020 |
| KRAS | KRAS proto-oncogene, GTPase | Disease-causing somatic mutation(s) in | gene with protein product | 190070 |
| NRAS | NRAS proto-oncogene, GTPase | Candidate gene tested in | gene with protein product | 164790 |
Фенотипы (HPO)31
Очень частый (80–99%)21
HP:0000269Prominent occiput
HP:0000506Telecanthus
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000995Melanocytic nevus
HP:0001048Cavernous hemangioma
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001315Reduced tendon reflexes
HP:0001347Hyperreflexia
HP:0001596Alopecia
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0002353EEG abnormality
HP:0002816Genu recurvatum
HP:0003422Vertebral segmentation defect
HP:0004422Biparietal narrowing
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0009720Adenoma sebaceum
HP:0100555Asymmetric growth
Частый (30–79%)6
HP:0000324Facial asymmetry
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0001357Plagiocephaly
HP:0002132Porencephaly
HP:0007400Irregular hyperpigmentation
Периодический (5–29%)4
HP:0001305Dandy-Walker malformation
HP:0001510Growth delay
HP:0002514Cerebral calcification
HP:0007370Aplasia/Hypoplasia of the corpus callosum
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)