Hepatoerythropoietic porphyria
ORPHA:95159DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)4
HP:0012379Abnormal enzyme/coenzyme activity
HP:0007537Severe photosensitivity
HP:0008066Abnormal blistering of the skin
HP:0001030Fragile skin
Частый (30–79%)12
HP:0040318Red urine
HP:0010472Abnormal circulating porphyrin concentration
HP:0032999Increased fecal porphyrin
HP:0040320Red-brown urine
HP:0100699Scarring
HP:0030756Erythrodontia
HP:0001790Nonimmune hydrops fetalis
HP:0000953Hyperpigmentation of the skin
HP:0001010Hypopigmentation of the skin
HP:0040322Purple urine
HP:0200041Skin erosion
HP:0005406Recurrent bacterial skin infections
Периодический (5–29%)13
HP:0001878Hemolytic anemia
HP:0012804Corneal ulceration
HP:0001072Thickened skin
HP:0002219Facial hypertrichosis
HP:0001744Splenomegaly
HP:0001892Abnormal bleeding
HP:0000656Ectropion
HP:0000938Osteopenia
HP:0001560Abnormality of the amniotic fluid
HP:0011457Loss of eyelashes
HP:0004552Scarring alopecia of scalp
HP:0000939Osteoporosis
HP:0012132Erythroid hyperplasia
Очень редкий (1–4%)8
HP:0003401Paresthesia
HP:0000989Pruritus
HP:0000969Edema
HP:0000618Blindness
HP:0100532Scleritis
HP:0500046Seborrhoeic blepharitis
HP:0001096Keratoconjunctivitis
HP:0002797Osteolysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)