Autosomal dominant cutis laxa
ORPHA:90348DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ALDH18A1 | aldehyde dehydrogenase 18 family member A1 | Disease-causing germline mutation(s) in | gene with protein product | 138250 |
| FBLN5 | fibulin 5 | Disease-causing germline mutation(s) in | gene with protein product | 604580 |
| ELN | elastin | Disease-causing germline mutation(s) in | gene with protein product | 130160 |
Фенотипы (HPO)59
Очень частый (80–99%)6
HP:0000973Cutis laxa
HP:0000974Hyperextensible skin
HP:0001582Redundant skin
HP:0007522Increased number of skin folds
HP:0025167Fragmented elastic fibers in the dermis
HP:0100678Premature skin wrinkling
Частый (30–79%)9
HP:0001382Joint hypermobility
HP:0000023Inguinal hernia
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0001999Abnormal facial shape
HP:0004942Aortic aneurysm
HP:0007495Prematurely aged appearance
HP:0010674Abnormality of the curvature of the vertebral column
HP:0100790Hernia
Периодический (5–29%)34
HP:0000015Bladder diverticulum
HP:0000252Microcephaly
HP:0000270Delayed cranial suture closure
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000519Developmental cataract
HP:0001181Adducted thumb
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001348Brisk reflexes
HP:0001511Intrauterine growth retardation
HP:0001635Congestive heart failure
HP:0001680Coarctation of aorta
HP:0002097Emphysema
HP:0002110Bronchiectasis
HP:0002256Small bowel diverticula
HP:0002650Scoliosis
HP:0002827Hip dislocation
HP:0004969Peripheral pulmonary artery stenosis
HP:0005989Redundant neck skin
HP:0006698Dilatation of the ventricular cavity
HP:0007957Corneal opacity
HP:0008897Postnatal growth retardation
HP:0010648Dermal translucency
HP:0011220Prominent forehead
HP:0011950Bronchiolitis
HP:0011968Feeding difficulties
HP:0012330Pyelonephritis
HP:0100512Low levels of vitamin D
Очень редкий (1–4%)10
HP:0000122Unilateral renal agenesis
HP:0000729Autistic behavior
HP:0000938Osteopenia
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0001884Talipes calcaneovalgus
HP:0002013Vomiting
HP:0002645Wormian bones
HP:0002677Small foramen magnum
HP:0002816Genu recurvatum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)