Acute intermittent porphyria
ORPHA:79276DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)5
HP:0002027Abdominal pain
HP:0003163Elevated urinary delta-aminolevulinic acid
HP:0010473Porphyrinuria
HP:0012217Increased urinary porphobilinogen
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)11
HP:0000083Renal insufficiency
HP:0000822Hypertension
HP:0001268Mental deterioration
HP:0001649Tachycardia
HP:0002017Nausea and vomiting
HP:0002019Constipation
HP:0003418Back pain
HP:0006824Cranial nerve paralysis
HP:0009763Limb pain
HP:0009830Peripheral neuropathy
HP:0030833Neck pain
Периодический (5–29%)28
HP:0000711Restlessness
HP:0000716Depression
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0001250Seizure
HP:0001262Excessive daytime somnolence
HP:0001289Confusion
HP:0001402Hepatocellular carcinoma
HP:0001945Fever
HP:0002014Diarrhea
HP:0002093Respiratory insufficiency
HP:0002203Respiratory paralysis
HP:0002354Memory impairment
HP:0002460Distal muscle weakness
HP:0002595Ileus
HP:0002902Hyponatremia
HP:0003270Abdominal distention
HP:0003474Somatic sensory dysfunction
HP:0004347Weakness of muscles of respiration
HP:0007002Motor axonal neuropathy
HP:0007024Pseudobulbar paralysis
HP:0007178Motor polyneuropathy
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
HP:0011999Paranoia
HP:0040319Dark urine
HP:0100785Insomnia
HP:0410263Brain imaging abnormality
Очень редкий (1–4%)6
HP:0000016Urinary retention
HP:0000020Urinary incontinence
HP:0000975Hyperhidrosis
HP:0001259Coma
HP:0001337Tremor
HP:0100518Dysuria
Исключён (0%)1
HP:0011121Abnormal skin morphology
Эпидемиология22
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.013 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.54 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.012 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.55 | France | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.011 | Italy | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Italy | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.013 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.59 | Finland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.018 | Netherlands | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.81 | Netherlands | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.014 | Norway | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.63 | Norway | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.016 | Poland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.72 | Poland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.014 | Spain | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.63 | Spain | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.051 | Sweden | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Sweden | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.022 | Switzerland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.99 | Switzerland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.016 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.72 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)