Biotinidase deficiency
ORPHA:79241DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)3
HP:0001992Organic aciduria
HP:0005979Metabolic ketoacidosis
HP:0410145Decreased biotinidase activity
Частый (30–79%)8
HP:0000407Sensorineural hearing impairment
HP:0000707Abnormality of the nervous system
HP:0000988Skin rash
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001987Hyperammonemia
HP:0002715Abnormality of the immune system
HP:0410263Brain imaging abnormality
Периодический (5–29%)27
HP:0000964Eczematoid dermatitis
HP:0000365Hearing impairment
HP:0000478Abnormality of the eye
HP:0000509Conjunctivitis
HP:0000575Scotoma
HP:0000648Optic atrophy
HP:0001138Optic neuropathy
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001254Lethargy
HP:0001263Global developmental delay
HP:0001596Alopecia
HP:0002069Bilateral tonic-clonic seizure
HP:0002098Respiratory distress
HP:0002104Apnea
HP:0002123Generalized myoclonic seizure
HP:0002196Myelopathy
HP:0002313Spastic paraparesis
HP:0002841Recurrent fungal infections
HP:0002883Hyperventilation
HP:0003690Limb muscle weakness
HP:0004429Recurrent viral infections
HP:0005401Recurrent candida infections
HP:0006511Laryngeal stridor
HP:0011153Focal motor seizure
HP:0012469Infantile spasms
HP:0200068Nonprogressive visual loss
Эпидемиология13
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.5 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Brazil | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.6 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.2 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Italy | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3 | Turkey | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.0069 | China | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.58 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)