Kindler epidermolysis bullosa
ORPHA:2908DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)7
HP:0000982Palmoplantar keratoderma
HP:0000992Cutaneous photosensitivity
HP:0001029Poikiloderma
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008066Abnormal blistering of the skin
HP:0010783Erythema
HP:0100825Cheilitis
Частый (30–79%)15
HP:0000230Gingivitis
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000704Periodontitis
HP:0001000Abnormality of skin pigmentation
HP:0001581Recurrent skin infections
HP:0001741Phimosis
HP:0002015Dysphagia
HP:0002043Esophageal stricture
HP:0002583Colitis
HP:0006101Finger syndactyly
HP:0006323Premature loss of primary teeth
HP:0008388Abnormal toenail morphology
HP:0100490Camptodactyly of finger
HP:0100633Esophagitis
Периодический (5–29%)19
HP:0000262Turricephaly
HP:0000509Conjunctivitis
HP:0000656Ectropion
HP:0000772Abnormal rib morphology
HP:0000929Abnormal skull morphology
HP:0000962Hyperkeratosis
HP:0000987Atypical scarring of skin
HP:0001056Milia
HP:0001371Flexion contracture
HP:0001602Laryngeal stenosis
HP:0001903Anemia
HP:0002037Inflammation of the large intestine
HP:0002860Squamous cell carcinoma
HP:0004378Abnormality of the anus
HP:0007957Corneal opacity
HP:0010044Short 4th metacarpal
HP:0010047Short 5th metacarpal
HP:0012227Urethral stricture
HP:0100517Neoplasm of the urethra
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 250 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)