Porphyria due to ALA dehydratase deficiency
ORPHA:100924DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)1
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)10
HP:0040322Purple urine
HP:0010472Abnormal circulating porphyrin concentration
HP:0000707Abnormality of the nervous system
HP:0009830Peripheral neuropathy
HP:0001324Muscle weakness
HP:0002027Abdominal pain
HP:0012217Increased urinary porphobilinogen
HP:0012187Increased erythrocyte protoporphyrin concentration
HP:0033010Increased fecal coproporphyrin 3
HP:0030272Abnormal erythrocyte enzyme activity
Периодический (5–29%)31
HP:0001288Gait disturbance
HP:0001289Confusion
HP:0000713Agitation
HP:0000739Anxiety
HP:0000711Restlessness
HP:0000738Hallucinations
HP:0031258Delirium
HP:0007159Fluctuations in consciousness
HP:0000741Apathy
HP:0000716Depression
HP:0100852Abnormal fear/anxiety-related behavior
HP:0007178Motor polyneuropathy
HP:0000763Sensory neuropathy
HP:0004302Functional motor deficit
HP:0002018Nausea
HP:0002572Episodic vomiting
HP:0002019Constipation
HP:0003270Abdominal distention
HP:0002014Diarrhea
HP:0001271Polyneuropathy
HP:0002902Hyponatremia
HP:0002086Abnormality of the respiratory system
HP:0005547Myeloproliferative disorder
HP:0003690Limb muscle weakness
HP:0001260Dysarthria
HP:0002093Respiratory insufficiency
HP:0005946Ventilator dependence with inability to wean
HP:0001256Intellectual disability, mild
HP:0000717Autism
HP:0000365Hearing impairment
HP:0006466Ankle flexion contracture
Исключён (0%)1
HP:0011121Abnormal skin morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)