Hereditary coproporphyria
ORPHA:79273DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)3
HP:0002027Abdominal pain
HP:0003163Elevated urinary delta-aminolevulinic acid
HP:0010472Abnormal circulating porphyrin concentration
Частый (30–79%)11
HP:0000987Atypical scarring of skin
HP:0002018Nausea
HP:0002460Distal muscle weakness
HP:0002572Episodic vomiting
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0009763Limb pain
HP:0010473Porphyrinuria
HP:0011121Abnormal skin morphology
HP:0012217Increased urinary porphobilinogen
HP:0040319Dark urine
Периодический (5–29%)17
HP:0000112Nephropathy
HP:0000709Psychosis
HP:0000992Cutaneous photosensitivity
HP:0001030Fragile skin
HP:0001250Seizure
HP:0001402Hepatocellular carcinoma
HP:0001649Tachycardia
HP:0002093Respiratory insufficiency
HP:0002902Hyponatremia
HP:0003418Back pain
HP:0005325Extension of hair growth on temples to lateral eyebrow
HP:0007178Motor polyneuropathy
HP:0008066Abnormal blistering of the skin
HP:0008528Long hairs growing from helix of pinna
HP:0009937Facial hirsutism
HP:0012850Small intestinal dysmotility
HP:0032936Intrusion symptom
Исключён (0%)2
HP:0001903Anemia
HP:0001945Fever
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)