Autosomal recessive cutis laxa type 1
ORPHA:90349DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| EFEMP2 | EGF-like fibulin extracellular matrix protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 604633 |
| FBLN5 | fibulin 5 | Disease-causing germline mutation(s) in | gene with protein product | 604580 |
| LTBP1 | latent transforming growth factor beta binding protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 150390 |
Фенотипы (HPO)37
Облигатный (100%)1
HP:0000973Cutis laxa
Очень частый (80–99%)5
HP:0001582Redundant skin
HP:0002097Emphysema
HP:0010750Dermatochalasis
HP:0025167Fragmented elastic fibers in the dermis
HP:0100679Lack of skin elasticity
Частый (30–79%)17
HP:0001382Joint hypermobility
HP:0000023Inguinal hernia
HP:0000271Abnormality of the face
HP:0001270Motor delay
HP:0001511Intrauterine growth retardation
HP:0001635Congestive heart failure
HP:0001999Abnormal facial shape
HP:0002093Respiratory insufficiency
HP:0002107Pneumothorax
HP:0002756Pathologic fracture
HP:0004426Abnormality of the cheek
HP:0004969Peripheral pulmonary artery stenosis
HP:0011004Abnormal systemic arterial morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0032153Joint subluxation
HP:0045027Abnormality of the thoracic cavity
HP:0100790Hernia
Периодический (5–29%)14
HP:0000010Recurrent urinary tract infections
HP:0000076Vesicoureteral reflux
HP:0000929Abnormal skull morphology
HP:0002021Pyloric stenosis
HP:0002256Small bowel diverticula
HP:0002617Dilatation
HP:0002827Hip dislocation
HP:0004381Supravalvular aortic stenosis
HP:0006532Recurrent pneumonia
HP:0006698Dilatation of the ventricular cavity
HP:0008722Urethral diverticulum
HP:0012330Pyelonephritis
HP:0012619Multiple bladder diverticula
HP:0030872Abnormal cardiac ventricular function
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)