Hereditary sensory and autonomic neuropathy type 4
ORPHA:642DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)56
Очень частый (80–99%)9
HP:0000742Self-mutilation
HP:0000970Anhidrosis
HP:0001249Intellectual disability
HP:0002726Recurrent Staphylococcus aureus infections
HP:0002754Osteomyelitis
HP:0003134Abnormality of peripheral nerve conduction
HP:0007021Pain insensitivity
HP:0010829Impaired temperature sensition
HP:0011136Aplasia of the sweat glands
Частый (30–79%)15
HP:0000958Dry skin
HP:0000987Atypical scarring of skin
HP:0001328Specific learning disability
HP:0001954Recurrent fever
HP:0002661Painless fractures due to injury
HP:0002821Neuropathic arthropathy
HP:0003091Trophic limb changes
HP:0005368Abnormality of humoral immunity
HP:0006480Premature loss of teeth
HP:0012170Nail-biting
HP:0025615Abscess
HP:0100491Abnormality of lower limb joint
HP:0100537Fasciitis
HP:0100725Lichenification
HP:0001288Gait disturbance
Периодический (5–29%)26
HP:0000736Short attention span
HP:0000752Hyperactivity
HP:0000978Bruising susceptibility
HP:0001279Syncope
HP:0001510Growth delay
HP:0001903Anemia
HP:0001955Unexplained fevers
HP:0002015Dysphagia
HP:0002100Recurrent aspiration pneumonia
HP:0002270Abnormality of the autonomic nervous system
HP:0002936Distal sensory impairment
HP:0003028Abnormality of the ankles
HP:0003095Septic arthritis
HP:0003272Abnormality of the hip bone
HP:0003474Somatic sensory dysfunction
HP:0004302Functional motor deficit
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0008000Decreased corneal reflex
HP:0009085Alveolar ridge overgrowth
HP:0010885Avascular necrosis
HP:0011968Feeding difficulties
HP:0030757Tooth abscess
HP:0030811Tongue pain
HP:0100710Impulsivity
HP:0100712Abnormal lumbar spine morphology
HP:0100851Abnormal emotion/affect behavior
Очень редкий (1–4%)6
HP:0000559Corneal scarring
HP:0000975Hyperhidrosis
HP:0002045Hypothermia
HP:0012622Chronic kidney disease
HP:0012804Corneal ulceration
HP:0100963Hyperesthesia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.14 | Japan | 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)