Mandibuloacral dysplasia with type B lipodystrophy
ORPHA:90154Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)11
HP:0000160Narrow mouth
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000924Abnormality of the skeletal system
HP:0000963Thin skin
HP:0001870Acroosteolysis of distal phalanges (feet)
HP:0002797Osteolysis
HP:0004334Dermal atrophy
HP:0006710Aplasia/Hypoplasia of the clavicles
HP:0009839Osteolytic defects of the distal phalanges of the hand
HP:0009882Short distal phalanx of finger
Частый (30–79%)16
HP:0000164Abnormality of the dentition
HP:0000444Convex nasal ridge
HP:0000520Proptosis
HP:0000855Insulin resistance
HP:0000953Hyperpigmentation of the skin
HP:0001211Abnormal fingertip morphology
HP:0001595Abnormality of the hair
HP:0001596Alopecia
HP:0003077Hyperlipidemia
HP:0003196Short nose
HP:0003761Calcinosis
HP:0004322Short stature
HP:0005328Progeroid facial appearance
HP:0007495Prematurely aged appearance
HP:0008404Nail dystrophy
HP:0009064Generalized lipodystrophy
Периодический (5–29%)1
HP:0000823Delayed puberty
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)