McCune-Albright syndrome
Findings
No curated finding names McCune-Albright syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).
Definition from the Mondo Disease Ontology (MONDO:0018919), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
58 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bone painHPOHP:0002653
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HyperthyroidismHPOHP:0000836
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Large cafe-au-lait macules with irregular marginsHPOHP:0005605
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Polyostotic fibrous dysplasiaHPOHP:0010735
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- Sclerotic iliumHPOHP:6000869
- 1 of 1 reported patient
- Abnormal endocrine physiologyHPOHP:0031072
Show the remaining 46
- Abnormality of the thyroid glandHPOHP:0000820
- Frequent (30% to 79% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Frequent (30% to 79% of cases)
- Fibrous dysplasia of boneHPOHP:0010734
- Frequent (30% to 79% of cases)
- Growth abnormalityHPOHP:0001507
- Frequent (30% to 79% of cases)
- Increased serum testosterone levelHPOHP:0030088
- Frequent (30% to 79% of cases)
- MacroorchidismHPOHP:0000053
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:4392HGNC:4392
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Unknown · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Unknown · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: McCune-Albright syndrome
- Also called
- Albright's diseasegonadotropin-independent female-limited sexual precocityMASMcCune Albright Syndromemccune-albright syndrome, somatic, mosaic