Mandibuloacral dysplasia with type A lipodystrophy
ORPHA:90153Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)14
HP:0000239Large fontanelles
HP:0000963Thin skin
HP:0001376Limitation of joint mobility
HP:0001596Alopecia
HP:0001870Acroosteolysis of distal phalanges (feet)
HP:0002645Wormian bones
HP:0002797Osteolysis
HP:0004322Short stature
HP:0004334Dermal atrophy
HP:0005328Progeroid facial appearance
HP:0006710Aplasia/Hypoplasia of the clavicles
HP:0007495Prematurely aged appearance
HP:0009839Osteolytic defects of the distal phalanges of the hand
HP:0009882Short distal phalanx of finger
Частый (30–79%)4
HP:0000520Proptosis
HP:0000534Abnormal eyebrow morphology
HP:0000855Insulin resistance
HP:0003077Hyperlipidemia
Периодический (5–29%)12
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0000561Absent eyelashes
HP:0000953Hyperpigmentation of the skin
HP:0001252Hypotonia
HP:0001371Flexion contracture
HP:0002829Arthralgia
HP:0003011Abnormality of the musculature
HP:0100679Lack of skin elasticity
HP:0100783Breast aplasia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)