Variegate porphyria
ORPHA:79473DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)48
Очень частый (80–99%)5
HP:0002027Abdominal pain
HP:0010472Abnormal circulating porphyrin concentration
HP:0010473Porphyrinuria
HP:0012217Increased urinary porphobilinogen
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)15
HP:0000707Abnormality of the nervous system
HP:0000708Atypical behavior
HP:0000739Anxiety
HP:0000992Cutaneous photosensitivity
HP:0001324Muscle weakness
HP:0002019Constipation
HP:0002273Tetraparesis
HP:0003163Elevated urinary delta-aminolevulinic acid
HP:0003418Back pain
HP:0007178Motor polyneuropathy
HP:0008066Abnormal blistering of the skin
HP:0008997Proximal muscle weakness in upper limbs
HP:0100749Chest pain
HP:0200037Skin vesicle
HP:0200041Skin erosion
Периодический (5–29%)21
HP:0000011Neurogenic bladder
HP:0000822Hypertension
HP:0000953Hyperpigmentation of the skin
HP:0000998Hypertrichosis
HP:0001010Hypopigmentation of the skin
HP:0001056Milia
HP:0001072Thickened skin
HP:0001250Seizure
HP:0001265Hyporeflexia
HP:0001347Hyperreflexia
HP:0001649Tachycardia
HP:0002018Nausea
HP:0002203Respiratory paralysis
HP:0002595Ileus
HP:0002902Hyponatremia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003474Somatic sensory dysfunction
HP:0011355Localized skin lesion
HP:0012332Abnormal autonomic nervous system physiology
HP:0031218Inappropriate antidiuretic hormone secretion
HP:0100699Scarring
Очень редкий (1–4%)7
HP:0000738Hallucinations
HP:0001259Coma
HP:0001392Abnormality of the liver
HP:0001402Hepatocellular carcinoma
HP:0001903Anemia
HP:0011999Paranoia
HP:0012622Chronic kidney disease
Эпидемиология22
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.008 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.32 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.012 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.48 | France | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.006 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.24 | Finland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.016 | Ireland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.64 | Ireland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.006 | Italy | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.24 | Netherlands | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.24 | Italy | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.006 | Netherlands | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.007 | Norway | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.28 | Norway | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.004 | Spain | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.16 | Spain | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.011 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.44 | Sweden | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.026 | Switzerland | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.04 | Switzerland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.008 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.32 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)