Ulnar-mammary syndrome
ORPHA:3138Malformation syndromeAutosomal dominantAdolescent, Antenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)5
HP:0001167Abnormality of finger
HP:0001231Abnormal fingernail morphology
HP:0002221Absent axillary hair
HP:0004370Abnormality of temperature regulation
HP:0006495Aplasia/Hypoplasia of the ulna
Частый (30–79%)9
HP:0000028Cryptorchidism
HP:0000130Abnormality of the uterus
HP:0000144Decreased fertility
HP:0000823Delayed puberty
HP:0001513Obesity
HP:0002557Hypoplastic nipples
HP:0003019Abnormality of the wrist
HP:0004322Short stature
HP:0008736Hypoplasia of penis
Периодический (5–29%)22
HP:0002818Abnormal morphology of the radius
HP:0004050Absent hand
HP:0004299Hernia of the abdominal wall
HP:0004397Ectopic anus
HP:0005916Abnormal metacarpal morphology
HP:0009751Aplasia of the pectoralis major muscle
HP:0009882Short distal phalanx of finger
HP:0011675Arrhythmia
HP:0100490Camptodactyly of finger
HP:0100783Breast aplasia
HP:0000089Renal hypoplasia
HP:0000668Hypodontia
HP:0000768Pectus carinatum
HP:0000889Abnormality of the clavicle
HP:0000912Sprengel anomaly
HP:0001162Postaxial hand polydactyly
HP:0001601Laryngomalacia
HP:0001629Ventricular septal defect
HP:0001800Hypoplastic toenails
HP:0002021Pyloric stenosis
HP:0002023Anal atresia
HP:0031095Abnormal humerus morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 128 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)