Severe generalized junctional epidermolysis bullosa
ORPHA:79404DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LAMB3 | laminin subunit beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 150310 |
| LAMC2 | laminin subunit gamma 2 | Disease-causing germline mutation(s) in | gene with protein product | 150292 |
| LAMA3 | laminin subunit alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 600805 |
Фенотипы (HPO)61
Очень частый (80–99%)11
HP:0001030Fragile skin
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001581Recurrent skin infections
HP:0001597Abnormality of the nail
HP:0006297Enamel hypoplasia
HP:0008066Abnormal blistering of the skin
HP:0011830Abnormal oral mucosa morphology
HP:0020117Hypoplastic dermoepidermal hemidesmosomes
HP:0200035Skin plaque
HP:0200041Skin erosion
Частый (30–79%)9
HP:0001211Abnormal fingertip morphology
HP:0001609Hoarse voice
HP:0001798Anonychia
HP:0001818Paronychia
HP:0001903Anemia
HP:0002094Dyspnea
HP:0004395Malnutrition
HP:0010307Stridor
HP:0031446Erosion of oral mucosa
Периодический (5–29%)37
HP:0000003Multicystic kidney dysplasia
HP:0000010Recurrent urinary tract infections
HP:0000014Abnormality of the bladder
HP:0000016Urinary retention
HP:0000070Ureterocele
HP:0000072Hydroureter
HP:0000081Duplicated collecting system
HP:0000107Renal cyst
HP:0000126Hydronephrosis
HP:0000481Abnormal cornea morphology
HP:0000939Osteoporosis
HP:0000969Edema
HP:0001057Aplasia cutis congenita
HP:0001596Alopecia
HP:0001602Laryngeal stenosis
HP:0001615Hoarse cry
HP:0001644Dilated cardiomyopathy
HP:0001944Dehydration
HP:0001955Unexplained fevers
HP:0002013Vomiting
HP:0002019Constipation
HP:0002043Esophageal stricture
HP:0002087Abnormality of the upper respiratory tract
HP:0002090Pneumonia
HP:0002098Respiratory distress
HP:0002860Squamous cell carcinoma
HP:0002878Respiratory failure
HP:0003111Abnormal blood ion concentration
HP:0004057Mitten deformity
HP:0004386Gastrointestinal inflammation
HP:0006000Ureteral obstruction
HP:0008404Nail dystrophy
HP:0008682Renal tubular epithelial necrosis
HP:0010476Aplasia/Hypoplasia of the bladder
HP:0012227Urethral stricture
HP:0100518Dysuria
HP:0100806Sepsis
Очень редкий (1–4%)4
HP:0000999Pyoderma
HP:0001250Seizure
HP:0001662Bradycardia
HP:0002107Pneumothorax
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.17 | Worldwide | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.04 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Netherlands | Value and class |
| Prevalence at birth | <1 / 1 000 000 | 0.07 | Italy | Value and class |
| 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)