Menkes disease
ORPHA:565DiseaseX-linked recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)55
Очень частый (80–99%)22
HP:0001382Joint hypermobility
HP:0000023Inguinal hernia
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000767Pectus excavatum
HP:0000958Dry skin
HP:0000974Hyperextensible skin
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001537Umbilical hernia
HP:0002170Intracranial hemorrhage
HP:0002224Woolly hair
HP:0002376Developmental regression
HP:0002617Dilatation
HP:0005599Hypopigmentation of hair
HP:0008070Sparse hair
HP:0008872Feeding difficulties in infancy
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0012378Fatigue
HP:0100790Hernia
Частый (30–79%)19
HP:0000269Prominent occiput
HP:0000293Full cheeks
HP:0000298Mask-like facies
HP:0000347Micrognathia
HP:0000708Atypical behavior
HP:0000774Narrow chest
HP:0000944Abnormal metaphysis morphology
HP:0000987Atypical scarring of skin
HP:0001072Thickened skin
HP:0001249Intellectual disability
HP:0001324Muscle weakness
HP:0002017Nausea and vomiting
HP:0002024Malabsorption
HP:0002645Wormian bones
HP:0005293Venous insufficiency
HP:0005344Abnormality of the carotid arteries
HP:0006579Prolonged neonatal jaundice
HP:0100545Arterial stenosis
HP:0100777Exostoses
Периодический (5–29%)14
HP:0000015Bladder diverticulum
HP:0000934Chondrocalcinosis
HP:0000939Osteoporosis
HP:0001511Intrauterine growth retardation
HP:0001943Hypoglycemia
HP:0002045Hypothermia
HP:0002072Chorea
HP:0002239Gastrointestinal hemorrhage
HP:0002754Osteomyelitis
HP:0002757Recurrent fractures
HP:0006487Bowing of the long bones
HP:0007420Spontaneous hematomas
HP:0008368Tarsal synostosis
HP:0100806Sepsis
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.33 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Australia | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)