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McCune-Albright syndrome
ORPHA:562 · Disease · Disorder
HPO 表現型（共 53 項）
Very frequent (99-80%)(4)
- Abnormal endocrine physiologyHP:0031072
- Large cafe-au-lait macules with irregular marginsHP:0005605
- Ovarian cystHP:0000138
- Precocious pubertyHP:0000826
Frequent (79-30%)(14)
- Abnormal facial skeleton morphologyHP:0011821
- Abnormal femur morphologyHP:0002823
- Abnormal skull base morphologyHP:0002693
- Abnormal testis morphologyHP:0000035
- Abnormality of the thyroid glandHP:0000820
- Accelerated skeletal maturationHP:0005616
- Fibrous dysplasia of the bonesHP:0010734
- Growth abnormalityHP:0001507
- HyperthyroidismHP:0000836
- Increased serum testosterone levelHP:0030088
- MacroorchidismHP:0000053
- Monostotic fibrous dysplasiaHP:0010736
- Renal tubular dysfunctionHP:0000124
- ScoliosisHP:0002650
Occasional (29-5%)(23)
- Abnormal sexual behaviorHP:0008768
- Abnormality of the faceHP:0000271
- Benign gastrointestinal tract tumorsHP:0006719
- Bone fractureHP:0020110
- Bone painHP:0002653
- Decreased fertilityHP:0000144
- Dental malocclusionHP:0000689
- Elevated circulating growth hormone concentrationHP:0000845
- Facial asymmetryHP:0000324
- Gastroesophageal refluxHP:0002020
- GoiterHP:0000853
- Hearing impairmentHP:0000365
- Hepatocellular adenomaHP:0012028
- Hyperplasia of the Leydig cellsHP:0010791
- Increased circulating prolactin concentrationHP:0000870
- Irregular menstruationHP:0000858
- Nasal congestionHP:0001742
- OsteomalaciaHP:0002749
- PancreatitisHP:0001733
- ParesthesiaHP:0003401
- Polyostotic fibrous dysplasiaHP:0010735
- Recurrent fracturesHP:0002757
- Renal phosphate wastingHP:0000117
Very rare (<4-1%)(12)
- Aneurysmal bone cystHP:0012063
- Bone marrow hypocellularityHP:0005528
- Breast carcinomaHP:0003002
- CholestasisHP:0001396
- Cutaneous myxomaHP:0030428
- HepatitisHP:0012115
- HyperphosphaturiaHP:0003109
- HypophosphatemiaHP:0002148
- Increased circulating cortisol levelHP:0003118
- PancytopeniaHP:0001876
- Primary hypercortisolismHP:0001579
- Visual lossHP:0000572