Adiposis dolorosa
ORPHA:36397DiseaseAutosomal dominant, Not applicableAdult
Фенотипы (HPO)40
Очень частый (80–99%)7
HP:0000709Psychosis
HP:0000716Depression
HP:0000739Anxiety
HP:0001482Subcutaneous nodule
HP:0001513Obesity
HP:0002829Arthralgia
HP:0012378Fatigue
Частый (30–79%)13
HP:0001031Subcutaneous lipoma
HP:0002027Abdominal pain
HP:0002215Sparse axillary hair
HP:0002225Sparse pubic hair
HP:0003119Abnormal circulating lipid concentration
HP:0003270Abdominal distention
HP:0003565Elevated erythrocyte sedimentation rate
HP:0007596Painful subcutaneous lipomas
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012532Chronic pain
HP:0025406Asthenia
HP:0025502Overweight
HP:0031905Increased total hemolytic complement activity
Периодический (5–29%)20
HP:0000217Xerostomia
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000822Hypertension
HP:0000958Dry skin
HP:0000978Bruising susceptibility
HP:0001250Seizure
HP:0001369Arthritis
HP:0001581Recurrent skin infections
HP:0002014Diarrhea
HP:0002019Constipation
HP:0002315Headache
HP:0002354Memory impairment
HP:0002360Sleep abnormality
HP:0002376Developmental regression
HP:0002960Autoimmunity
HP:0003401Paresthesia
HP:0009830Peripheral neuropathy
HP:0034265Mastalgia
HP:0100585Telangiectasia of the skin
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)